{"id":"DOID:0050430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple endocrine neoplasia type 2A","equivalent_identifiers":["DOID:0050430","DOID:0050547","OMIM:155240","OMIM:171400","EFO:1001957","UMLS:C0025268","UMLS:C1833921","MESH:C536911","MESH:D018813","MEDDRA:10056427","MEDDRA:10073148","MEDDRA:10073153","MEDDRA:10073154","NCIT:C3226","NCIT:C46099","SNOMEDCT:721188000","ICD10:E31.22","ICD9:258.02"],"information_content":88.2}
{"id":"DOID:0050465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Muir-Torre syndrome","equivalent_identifiers":["DOID:0050465","OMIM:158320","UMLS:C1321489","MESH:D055653","MEDDRA:10063042","NCIT:C84905","SNOMEDCT:403824007"],"information_content":100.0}
{"id":"DOID:0050693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brooke-Spiegler syndrome","equivalent_identifiers":["DOID:0050693","OMIM:605041","UMLS:C1857941","MEDDRA:10087912","NCIT:C43352","SNOMEDCT:703531009"],"information_content":95.4}
{"id":"DOID:0050769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"N syndrome","equivalent_identifiers":["DOID:0050769","OMIM:310465","UMLS:C2936859","MESH:C536108","SNOMEDCT:723410002"]}
{"id":"DOID:0070271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lynch syndrome 1","equivalent_identifiers":["DOID:0070271","OMIM:120435","UMLS:C2936783","NCIT:C6725"],"information_content":92.8}
{"id":"DOID:0070648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cherubism","equivalent_identifiers":["DOID:0070648","DOID:1856","OMIM:118400","UMLS:C0008029","MESH:D002636","MEDDRA:10070535","MEDDRA:10070536","NCIT:C84630","SNOMEDCT:76098004"],"information_content":92.8}
{"id":"DOID:0080137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple endocrine neoplasia type 4","equivalent_identifiers":["DOID:0080137","OMIM:610755","UMLS:C1970712","MESH:C567059","NCIT:C157449","SNOMEDCT:715907003"],"information_content":92.8}
{"id":"DOID:0080325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tuberous sclerosis 2","equivalent_identifiers":["DOID:0080325","OMIM:613254","UMLS:C1860707","UMLS:C2750460","MESH:C566021","MESH:C567682","NCIT:C75331"],"information_content":92.8}
{"id":"DOID:0080533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carney-Stratakis syndrome","equivalent_identifiers":["DOID:0080533","OMIM:606864","UMLS:C1847319","MESH:C564650","NCIT:C94831","SNOMEDCT:722377004"],"information_content":100.0}
{"id":"DOID:0080688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic variegated aneuploidy syndrome","equivalent_identifiers":["DOID:0080688","OMIM:257300","UMLS:C1850343","MESH:C536987","NCIT:C128192"],"information_content":100.0}
{"id":"DOID:0080839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked warfarin sensitivity","equivalent_identifiers":["DOID:0080839","OMIM:301052","EFO:0021801","UMLS:C5393318"]}
{"id":"DOID:0111252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vestibular schwannomatosis","equivalent_identifiers":["DOID:0111252","OMIM:101000","UMLS:C0027832","MESH:D016518","MEDDRA:10029271","NCIT:C3274","SNOMEDCT:92503002","ICD10:Q85.02","ICD9:237.72"],"information_content":90.9}
{"id":"DOID:0111253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurofibromatosis 1","equivalent_identifiers":["DOID:0111253","OMIM:162200","UMLS:C0027831","MESH:D009456","MEDDRA:10029270","MEDDRA:10047712","NCIT:C3273","SNOMEDCT:92824003","ICD10:Q85.01","ICD9:237.71"],"information_content":77.6}
{"id":"DOID:0111511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melanoma and neural system tumor syndrome","equivalent_identifiers":["DOID:0111511","OMIM:155755","UMLS:C1835042","MESH:C536149","NCIT:C176905","SNOMEDCT:717968005"],"information_content":100.0}
{"id":"DOID:0111683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurofibromatosis-Noonan syndrome","equivalent_identifiers":["DOID:0111683","OMIM:601321","UMLS:C2931482","MESH:C537393","SNOMEDCT:715344006"]}
{"id":"DOID:10016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple endocrine neoplasia type 2B","equivalent_identifiers":["DOID:10016","OMIM:162300","UMLS:C0025269","MESH:D018814","MEDDRA:10052342","MEDDRA:10056420","MEDDRA:10073151","MEDDRA:10073155","NCIT:C3227","SNOMEDCT:61530001","ICD10:E31.23","ICD9:258.03"],"information_content":90.9}
{"id":"DOID:14515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"WAGR syndrome","equivalent_identifiers":["DOID:14515","OMIM:194072","UMLS:C0206115","MESH:D017624","NCIT:C3718","SNOMEDCT:4135001","SNOMEDCT:715215007"],"information_content":92.8}
{"id":"DOID:2512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nevoid basal cell carcinoma syndrome","equivalent_identifiers":["DOID:2512","OMIM:109400","UMLS:C0004779","MESH:D001478","MEDDRA:10004151","MEDDRA:10062804","MEDDRA:10078877","MEDDRA:10078878","NCIT:C2892","SNOMEDCT:69408002"],"information_content":86.3}
{"id":"DOID:3012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Li-Fraumeni syndrome","equivalent_identifiers":["DOID:3012","OMIM:151623","UMLS:C0085390","UMLS:C2675080","MESH:C567189","MESH:D016864","MEDDRA:10066795","NCIT:C3476","SNOMEDCT:428850001"],"information_content":89.4}
{"id":"DOID:5585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ferguson-Smith tumor","equivalent_identifiers":["DOID:5585","OMIM:132800","UMLS:C0345982","UMLS:C0546476","UMLS:C4083047","MESH:C536150","NCIT:C4461","SNOMEDCT:254659009"],"information_content":100.0}
{"id":"DOID:9007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sudden infant death syndrome","equivalent_identifiers":["DOID:9007","OMIM:272120","EFO:0005303","UMLS:C0038644","MESH:D013398","MEDDRA:10011220","MEDDRA:10011910","MEDDRA:10040666","MEDDRA:10040667","MEDDRA:10042439","MEDDRA:10042440","MEDDRA:10069606","NCIT:C85173","SNOMEDCT:51178009","ICD9:798.0"],"information_content":100.0}
{"id":"DOID:9169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wiskott-Aldrich syndrome","equivalent_identifiers":["DOID:9169","OMIM:301000","UMLS:C0043194","MESH:D014923","MEDDRA:10001659","MEDDRA:10047992","NCIT:C3448","SNOMEDCT:36070007","ICD10:D82.0","ICD9:279.12"],"information_content":92.8}
{"id":"HP:0000002","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of body height","equivalent_identifiers":["HP:0000002","UMLS:C4025901"],"information_content":67.2}
{"id":"HP:0000007","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Autosomal recessive inheritance","equivalent_identifiers":["HP:0000007","UMLS:C4020899"],"information_content":55.0}
{"id":"HP:0000008","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal morphology of female internal genitalia","equivalent_identifiers":["HP:0000008","UMLS:C4025900"],"information_content":60.6}
{"id":"HP:0000009","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Functional abnormality of the bladder","equivalent_identifiers":["HP:0000009","UMLS:C3806583"],"information_content":76.2}
{"id":"HP:0000010","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Recurrent urinary tract infections","equivalent_identifiers":["HP:0000010","UMLS:C0262655","MEDDRA:10038140","MEDDRA:10038141","SNOMEDCT:197927001"],"information_content":92.8}
{"id":"HP:0000011","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neurogenic bladder","equivalent_identifiers":["HP:0000011","NCIT:C79696","UMLS:C0005697","UMLS:C5848144","MEDDRA:10005059","MEDDRA:10029279","MEDDRA:10029327","SNOMEDCT:397732007","SNOMEDCT:398064005","MESH:D001750"],"information_content":90.9}
{"id":"HP:0000014","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of the bladder","equivalent_identifiers":["HP:0000014","UMLS:C0149632"],"information_content":69.5}
{"id":"HP:0000016","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urinary retention","equivalent_identifiers":["HP:0000016","UMLS:C0080274","SNOMEDCT:130951007","SNOMEDCT:267064002","SNOMEDCT:449491000124101"],"information_content":100.0}
{"id":"HP:0000017","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nocturia","equivalent_identifiers":["HP:0000017","NCIT:C82673","UMLS:C0028734","MEDDRA:10029446","MEDDRA:10029454","MEDDRA:10054791","SNOMEDCT:139394000","MESH:D053158"],"information_content":100.0}
{"id":"HP:0000019","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urinary hesitancy","equivalent_identifiers":["HP:0000019","NCIT:C123246","UMLS:C0152032","MEDDRA:10020009","MEDDRA:10020010","MEDDRA:10046541","MEDDRA:10046542","SNOMEDCT:5972002"],"information_content":100.0}
{"id":"HP:0000020","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urinary incontinence","equivalent_identifiers":["HP:0000020","NCIT:C78497","UMLS:C0042024","MEDDRA:10005046","MEDDRA:10021642","MEDDRA:10021643","MEDDRA:10027563","MEDDRA:10046218","MEDDRA:10046543","MEDDRA:10046602","MEDDRA:10046645","SNOMEDCT:165232002","MESH:D014549"],"information_content":95.4}
{"id":"HP:0000021","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Megacystis","equivalent_identifiers":["HP:0000021","UMLS:C1855311"],"information_content":100.0}
{"id":"HP:0000022","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal male internal genitalia morphology","equivalent_identifiers":["HP:0000022","UMLS:C4025899","UMLS:C5706136"],"information_content":63.4}
{"id":"HP:0000023","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Inguinal hernia","equivalent_identifiers":["HP:0000023","NCIT:C34690","NCIT:C34691","NCIT:C34692","UMLS:C0019294","UMLS:C0019295","UMLS:C0019296","MEDDRA:10013046","MEDDRA:10019917","MEDDRA:10021715","MEDDRA:10022016","MEDDRA:10022017","MEDDRA:10022019","MEDDRA:10029887","MEDDRA:10082132","SNOMEDCT:396232000","SNOMEDCT:65626001","SNOMEDCT:73147001","MESH:D006552"],"information_content":74.7}
{"id":"HP:0000025","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Functional abnormality of male internal genitalia","equivalent_identifiers":["HP:0000025","UMLS:C4025898"],"information_content":77.1}
{"id":"HP:0000032","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal male external genitalia morphology","equivalent_identifiers":["HP:0000032","UMLS:C4025897"],"information_content":65.2}
{"id":"HP:0000033","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ambiguous genitalia, male","equivalent_identifiers":["HP:0000033","UMLS:C4021823"],"information_content":100.0}
{"id":"HP:0000035","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal testis morphology","equivalent_identifiers":["HP:0000035","UMLS:C0266423","UMLS:C4759656","SNOMEDCT:55631001"],"information_content":70.1}
{"id":"HP:0000036","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal penis morphology","equivalent_identifiers":["HP:0000036","UMLS:C4025896"],"information_content":73.0}
{"id":"HP:0000037","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Male pseudohermaphroditism","equivalent_identifiers":["HP:0000037","UMLS:C0238395","MEDDRA:10025515","MEDDRA:10037124","SNOMEDCT:111332007"],"information_content":90.9}
{"id":"HP:0000039","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Epispadias","equivalent_identifiers":["HP:0000039","UMLS:C0563449","SNOMEDCT:406477003"],"information_content":100.0}
{"id":"HP:0000040","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Long penis","equivalent_identifiers":["HP:0000040","UMLS:C0269011","MEDDRA:10034337","SNOMEDCT:88673001"],"information_content":100.0}
{"id":"HP:0000041","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chordee","equivalent_identifiers":["HP:0000041","UMLS:C0221182","MEDDRA:10008746","SNOMEDCT:4287008"],"information_content":100.0}
{"id":"HP:0000042","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent external genitalia","equivalent_identifiers":["HP:0000042","UMLS:C1848869"],"information_content":92.8}
{"id":"HP:0000045","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal scrotum morphology","equivalent_identifiers":["HP:0000045","UMLS:C4025895"],"information_content":78.3}
{"id":"HP:0000046","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Small scrotum","equivalent_identifiers":["HP:0000046","UMLS:C0431659","UMLS:C0455792","MEDDRA:10057861","SNOMEDCT:204912007","SNOMEDCT:276332008"],"information_content":95.4}
{"id":"HP:0000048","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bifid scrotum","equivalent_identifiers":["HP:0000048","UMLS:C0341787","SNOMEDCT:236780002"],"information_content":95.4}
{"id":"HP:0000049","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shawl scrotum","equivalent_identifiers":["HP:0000049","UMLS:C1858539","MEDDRA:10080319"],"information_content":100.0}
{"id":"HP:0000050","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoplastic male external genitalia","equivalent_identifiers":["HP:0000050","UMLS:C1852534"],"information_content":80.9}
{"id":"HP:0000051","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perineal hypospadias","equivalent_identifiers":["HP:0000051","UMLS:C0452148","SNOMEDCT:204890004"],"information_content":100.0}
{"id":"HP:0000052","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urethral atresia, male","equivalent_identifiers":["HP:0000052","UMLS:C4025894"],"information_content":100.0}
{"id":"HP:0000053","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Macroorchidism","equivalent_identifiers":["HP:0000053","UMLS:C1263023","MEDDRA:10081860","SNOMEDCT:276412008"],"information_content":83.1}
{"id":"HP:0000055","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal female external genitalia morphology","equivalent_identifiers":["HP:0000055","UMLS:C4021822"],"information_content":72.4}
{"id":"HP:0000056","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal clitoris morphology","equivalent_identifiers":["HP:0000056","UMLS:C4025893"],"information_content":81.3}
{"id":"HP:0000058","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal labia morphology","equivalent_identifiers":["HP:0000058","UMLS:C4025892"],"information_content":77.6}
{"id":"HP:0000059","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoplastic labia majora","equivalent_identifiers":["HP:0000059","UMLS:C0566899","SNOMEDCT:289469003"],"information_content":100.0}
{"id":"HP:0000060","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Clitoral hypoplasia","equivalent_identifiers":["HP:0000060","UMLS:C1844527"],"information_content":95.4}
{"id":"HP:0000061","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ambiguous genitalia, female","equivalent_identifiers":["HP:0000061","UMLS:C1859980","UMLS:C4025891"],"information_content":100.0}
{"id":"HP:0000062","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ambiguous genitalia","equivalent_identifiers":["HP:0000062","NCIT:C98810","UMLS:C0266362","MEDDRA:10001904","MEDDRA:10018183","SNOMEDCT:21321009"],"information_content":88.2}
{"id":"HP:0000063","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fused labia minora","equivalent_identifiers":["HP:0000063","UMLS:C1837532"],"information_content":100.0}
{"id":"HP:0000064","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoplastic labia minora","equivalent_identifiers":["HP:0000064","UMLS:C1849295"],"information_content":100.0}
{"id":"HP:0000065","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Labial hypertrophy","equivalent_identifiers":["HP:0000065","UMLS:C0156395","UMLS:C0404531","MEDDRA:10020889","MEDDRA:10023527","SNOMEDCT:16924008","SNOMEDCT:3751000119101"],"information_content":90.9}
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{"id":"HP:0000205","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pursed lips","equivalent_identifiers":["HP:0000205","UMLS:C1832130"],"information_content":95.4}
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{"id":"HP:0000215","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thick upper lip vermilion","equivalent_identifiers":["HP:0000215","UMLS:C1846423"],"information_content":100.0}
{"id":"HP:0000216","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Broad secondary alveolar ridge","equivalent_identifiers":["HP:0000216","UMLS:C1839276"],"information_content":100.0}
{"id":"HP:0000217","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Xerostomia","equivalent_identifiers":["HP:0000217","EFO:0009869","NCIT:C26917","UMLS:C0043352","MEDDRA:10003068","MEDDRA:10013781","MEDDRA:10013794","MEDDRA:10028016","MEDDRA:10028021","MEDDRA:10030974","MEDDRA:10039380","MEDDRA:10039425","MEDDRA:10048223","MEDDRA:10050239","MEDDRA:10050240","MP:0000624","SNOMEDCT:300268000","SNOMEDCT:56893005","SNOMEDCT:87715008","MESH:D014987"],"information_content":95.4}
{"id":"HP:0000218","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"High palate","equivalent_identifiers":["HP:0000218","UMLS:C0240635","MEDDRA:10020046","SNOMEDCT:27272007"],"information_content":92.8}
{"id":"HP:0000219","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thin upper lip vermilion","equivalent_identifiers":["HP:0000219","UMLS:C1865017"],"information_content":92.8}
{"id":"HP:0000222","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gingival hyperkeratosis","equivalent_identifiers":["HP:0000222","UMLS:C1857013"],"information_content":100.0}
{"id":"HP:0000223","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of taste sensation","equivalent_identifiers":["HP:0000223","UMLS:C4025879"],"information_content":88.2}
{"id":"HP:0000224","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypogeusia","equivalent_identifiers":["HP:0000224","NCIT:C116373","UMLS:C0151934","MEDDRA:10018795","MEDDRA:10020989","MEDDRA:10043130","SNOMEDCT:697990000"],"information_content":100.0}
{"id":"HP:0000225","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gingival bleeding","equivalent_identifiers":["HP:0000225","UMLS:C0017565","UMLS:C1533849","MEDDRA:10005118","MEDDRA:10018276","MEDDRA:10018293","MEDDRA:10018771","MEDDRA:10018778","MEDDRA:10018779","MEDDRA:10019544","MEDDRA:10019545","MEDDRA:10055796","MEDDRA:10055797","MEDDRA:10055810","MEDDRA:10055811","MEDDRA:10072705","MEDDRA:10072706","MEDDRA:10087488","MEDDRA:10087489","MEDDRA:10087530","SNOMEDCT:86276007","MESH:D005884"],"information_content":100.0}
{"id":"HP:0000227","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tongue telangiectasia","equivalent_identifiers":["HP:0000227","UMLS:C4025878","UMLS:C4280668"],"information_content":100.0}
{"id":"HP:0000228","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oral cavity telangiectasia","equivalent_identifiers":["HP:0000228","UMLS:C4025877","UMLS:C4280667"],"information_content":87.2}
{"id":"HP:0000232","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Everted lower lip vermilion","equivalent_identifiers":["HP:0000232","UMLS:C1853246","UMLS:C1866234","SNOMEDCT:767502001"],"information_content":100.0}
{"id":"HP:0000233","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thin lips","equivalent_identifiers":["HP:0000233","UMLS:C0578038","SNOMEDCT:301348000"],"information_content":88.2}
{"id":"HP:0000234","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of the head","equivalent_identifiers":["HP:0000234","UMLS:C4021812"],"information_content":42.3}
{"id":"HP:0000235","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal cranial suture/fontanelle morphology","equivalent_identifiers":["HP:0000235","UMLS:C4025876"],"information_content":69.3}
{"id":"HP:0000236","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal anterior fontanelle morphology","equivalent_identifiers":["HP:0000236","UMLS:C4025875"],"information_content":84.8}
{"id":"HP:0000237","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Small anterior fontanelle","equivalent_identifiers":["HP:0000237","UMLS:C1859455"],"information_content":100.0}
{"id":"HP:0000239","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Large fontanelles","equivalent_identifiers":["HP:0000239","UMLS:C0456132","UMLS:C4072820","UMLS:C4072821","UMLS:C4072822","MEDDRA:10054068","SNOMEDCT:276709006"],"information_content":87.2}
{"id":"HP:0000240","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of skull size","equivalent_identifiers":["HP:0000240","UMLS:C4025874"],"information_content":69.5}
{"id":"HP:0000242","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parietal bossing","equivalent_identifiers":["HP:0000242","UMLS:C1857126"],"information_content":100.0}
{"id":"HP:0000244","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brachyturricephaly","equivalent_identifiers":["HP:0000244","UMLS:C1857484"],"information_content":100.0}
{"id":"HP:0000245","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal paranasal sinus morphology","equivalent_identifiers":["HP:0000245","UMLS:C4025873"],"information_content":78.0}
{"id":"HP:0000248","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brachycephaly","equivalent_identifiers":["HP:0000248","UMLS:C0221356","UMLS:C4072823","UMLS:C4072824","MEDDRA:10053682","SNOMEDCT:13649004"],"information_content":90.9}
{"id":"HP:0000250","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dense calvaria","equivalent_identifiers":["HP:0000250","UMLS:C1854834"],"information_content":100.0}
{"id":"HP:0000253","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Progressive microcephaly","equivalent_identifiers":["HP:0000253","UMLS:C1850456"],"information_content":100.0}
{"id":"HP:0000256","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Macrocephaly","equivalent_identifiers":["HP:0000256","UMLS:C2243051","UMLS:C4255213","UMLS:C4280663","UMLS:C4280664","SNOMEDCT:1145403003"],"information_content":71.2}
{"id":"HP:0000260","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wide anterior fontanel","equivalent_identifiers":["HP:0000260","UMLS:C1866134"],"information_content":100.0}
{"id":"HP:0000263","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oxycephaly","equivalent_identifiers":["HP:0000263","UMLS:C4551646","MEDDRA:10080833"],"information_content":100.0}
{"id":"HP:0000264","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal mastoid morphology","equivalent_identifiers":["HP:0000264","UMLS:C4025872"],"information_content":89.4}
{"id":"HP:0000267","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cranial asymmetry","equivalent_identifiers":["HP:0000267","UMLS:C1860245","UMLS:C4280258","UMLS:C4280657","UMLS:C4280658","UMLS:C4280659","UMLS:C4280660","UMLS:C4280661","UMLS:C4280662","MEDDRA:10081295"],"information_content":88.2}
{"id":"HP:0000268","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dolichocephaly","equivalent_identifiers":["HP:0000268","UMLS:C0221358","UMLS:C4280653","UMLS:C4280654","UMLS:C4280655","UMLS:C4280656","MEDDRA:10085104","SNOMEDCT:72239002"],"information_content":95.4}
{"id":"HP:0000269","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prominent occiput","equivalent_identifiers":["HP:0000269","UMLS:C1853737","UMLS:C4280652"],"information_content":100.0}
{"id":"HP:0000270","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Delayed cranial suture closure","equivalent_identifiers":["HP:0000270","UMLS:C0277828","MEDDRA:10054008","MEDDRA:10054034","SNOMEDCT:82779003"],"information_content":90.9}
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{"id":"HP:0000272","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Malar flattening","equivalent_identifiers":["HP:0000272","UMLS:C1858085","UMLS:C4280651","MESH:C000721289"],"information_content":92.8}
{"id":"HP:0000273","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Facial grimacing","equivalent_identifiers":["HP:0000273","UMLS:C0234853","SNOMEDCT:37126005"],"information_content":100.0}
{"id":"HP:0000274","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Small face","equivalent_identifiers":["HP:0000274","UMLS:C1855538"],"information_content":82.1}
{"id":"HP:0000275","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Narrow face","equivalent_identifiers":["HP:0000275","UMLS:C1837463","UMLS:C1849121"],"information_content":87.2}
{"id":"HP:0000276","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Long face","equivalent_identifiers":["HP:0000276","UMLS:C1836047"],"information_content":95.4}
{"id":"HP:0000277","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal mandible morphology","equivalent_identifiers":["HP:0000277","UMLS:C4025870"],"information_content":69.8}
{"id":"HP:0000278","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retrognathia","equivalent_identifiers":["HP:0000278","UMLS:C0035353","UMLS:C3494422","MEDDRA:10051821","SNOMEDCT:109515000","MESH:D063173"],"information_content":89.4}
{"id":"HP:0000280","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coarse facial features","equivalent_identifiers":["HP:0000280","UMLS:C1845847","UMLS:C4072825","MESH:C000721322"],"information_content":92.8}
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{"id":"HP:0000286","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Epicanthus","equivalent_identifiers":["HP:0000286","UMLS:C0678230"],"information_content":89.4}
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{"id":"HP:0000289","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Broad philtrum","equivalent_identifiers":["HP:0000289","UMLS:C1854111"],"information_content":100.0}
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{"id":"HP:0000292","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Loss of facial adipose tissue","equivalent_identifiers":["HP:0000292","UMLS:C1837767"],"information_content":95.4}
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{"id":"HP:0000294","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Low anterior hairline","equivalent_identifiers":["HP:0000294","UMLS:C1842366"],"information_content":100.0}
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{"id":"HP:0000297","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Facial hypotonia","equivalent_identifiers":["HP:0000297","UMLS:C1845251","UMLS:C4029280","UMLS:C4280646"],"information_content":89.4}
{"id":"HP:0000298","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mask-like facies","equivalent_identifiers":["HP:0000298","UMLS:C0424448","MEDDRA:10016066","MEDDRA:10026860","MEDDRA:10026861","MEDDRA:10026862","MEDDRA:10026863","SNOMEDCT:103606006"],"information_content":100.0}
{"id":"HP:0000300","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oval face","equivalent_identifiers":["HP:0000300","UMLS:C1849025"],"information_content":100.0}
{"id":"HP:0000301","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of facial musculature","equivalent_identifiers":["HP:0000301","UMLS:C4025865"],"information_content":70.7}
{"id":"HP:0000306","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of the chin","equivalent_identifiers":["HP:0000306","UMLS:C4025864"],"information_content":80.9}
{"id":"HP:0000307","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pointed chin","equivalent_identifiers":["HP:0000307","UMLS:C1844505"],"information_content":100.0}
{"id":"HP:0000308","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Microretrognathia","equivalent_identifiers":["HP:0000308","UMLS:C1839546"],"information_content":100.0}
{"id":"HP:0000309","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal midface morphology","equivalent_identifiers":["HP:0000309","UMLS:C4021811"],"information_content":61.2}
{"id":"HP:0000311","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Round face","equivalent_identifiers":["HP:0000311","UMLS:C0239479","UMLS:C1856468"],"information_content":95.4}
{"id":"HP:0000315","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of the orbital region","equivalent_identifiers":["HP:0000315","UMLS:C4025863"],"information_content":47.7}
{"id":"HP:0000316","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypertelorism","equivalent_identifiers":["HP:0000316","NCIT:C34715","UMLS:C0020534","MEDDRA:10020771","MEDDRA:10057862","SNOMEDCT:194021007","SNOMEDCT:22006008","MESH:D006972"],"information_content":92.8}
{"id":"HP:0000319","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Smooth philtrum","equivalent_identifiers":["HP:0000319","UMLS:C1142533","MEDDRA:10058844"],"information_content":100.0}
{"id":"HP:0000320","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bird-like facies","equivalent_identifiers":["HP:0000320","UMLS:C1837758"],"information_content":100.0}
{"id":"HP:0000321","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Square face","equivalent_identifiers":["HP:0000321","UMLS:C1832127"],"information_content":95.4}
{"id":"HP:0000322","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short philtrum","equivalent_identifiers":["HP:0000322","UMLS:C1861324"],"information_content":95.4}
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{"id":"HP:0000433","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal nasal mucosa morphology","equivalent_identifiers":["HP:0000433","UMLS:C4025854"],"information_content":78.0}
{"id":"HP:0000434","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nasal mucosa telangiectasia","equivalent_identifiers":["HP:0000434","UMLS:C4025853","MEDDRA:10084636"],"information_content":100.0}
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{"id":"HP:0000447","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pear-shaped nose","equivalent_identifiers":["HP:0000447","UMLS:C1853482"],"information_content":100.0}
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{"id":"HP:0000451","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Triangular nasal tip","equivalent_identifiers":["HP:0000451","UMLS:C1839765"],"information_content":100.0}
{"id":"HP:0000452","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Choanal stenosis","equivalent_identifiers":["HP:0000452","UMLS:C0584837","MEDDRA:10074053","SNOMEDCT:306963008"],"information_content":95.4}
{"id":"HP:0000454","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Flared nostrils","equivalent_identifiers":["HP:0000454","UMLS:C4551517"],"information_content":100.0}
{"id":"HP:0000455","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Broad nasal tip","equivalent_identifiers":["HP:0000455","UMLS:C0426429","SNOMEDCT:249327002"],"information_content":100.0}
{"id":"HP:0000456","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bifid nasal tip","equivalent_identifiers":["HP:0000456","UMLS:C0426428","UMLS:C4020890","SNOMEDCT:249326006"],"information_content":95.4}
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{"id":"HP:0000593","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal anterior chamber morphology","equivalent_identifiers":["HP:0000593","UMLS:C3152182","SNOMEDCT:204142009"],"information_content":72.8}
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{"id":"HP:0001005","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dermatological manifestations of systemic disorders","equivalent_identifiers":["HP:0001005","UMLS:C4025812"],"information_content":80.2}
{"id":"HP:0001007","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirsutism","equivalent_identifiers":["HP:0001007","NCIT:C61444","UMLS:C0019572","MEDDRA:10019052","MEDDRA:10020112","SNOMEDCT:399939002","MESH:D006628"],"information_content":81.7}
{"id":"HP:0001008","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Accumulation of melanosomes in melanocytes","equivalent_identifiers":["HP:0001008","UMLS:C1843389"],"information_content":100.0}
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{"id":"HP:0001024","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin dimple over apex of long bone angulation","equivalent_identifiers":["HP:0001024","UMLS:C1855815"],"information_content":100.0}
{"id":"HP:0001026","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Penetrating foot ulcers","equivalent_identifiers":["HP:0001026","UMLS:C4025809"],"information_content":100.0}
{"id":"HP:0001027","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Soft, doughy skin","equivalent_identifiers":["HP:0001027","UMLS:C1849043"],"information_content":100.0}
{"id":"HP:0001029","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Poikiloderma","equivalent_identifiers":["HP:0001029","NCIT:C53975","UMLS:C0392777","MEDDRA:10057041","SNOMEDCT:402685001","SNOMEDCT:70114006"],"information_content":90.9}
{"id":"HP:0001030","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fragile skin","equivalent_identifiers":["HP:0001030","UMLS:C0241181","MEDDRA:10040851","SNOMEDCT:247427007"],"information_content":95.4}
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{"id":"HP:0001032","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent distal interphalangeal creases","equivalent_identifiers":["HP:0001032","UMLS:C1861349"],"information_content":95.4}
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{"id":"HP:0001050","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Plethora","equivalent_identifiers":["HP:0001050","UMLS:C0232370","SNOMEDCT:75246004"],"information_content":100.0}
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{"id":"HP:0001088","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Speckled iris","equivalent_identifiers":["HP:0001088","UMLS:C1303007","UMLS:C4280604","SNOMEDCT:400960002"],"information_content":100.0}
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{"id":"HP:0001093","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Optic nerve dysplasia","equivalent_identifiers":["HP:0001093","UMLS:C2676026"],"information_content":100.0}
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{"id":"HP:0001105","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinal atrophy","equivalent_identifiers":["HP:0001105","UMLS:C0521694","MEDDRA:10038832","SNOMEDCT:405722004"],"information_content":81.7}
{"id":"HP:0001106","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Periorbital hyperpigmentation","equivalent_identifiers":["HP:0001106","UMLS:C1844606","MEDDRA:10084812"],"information_content":100.0}
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{"id":"HP:0001119","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Keratoglobus","equivalent_identifiers":["HP:0001119","UMLS:C3887531","SNOMEDCT:388840007"],"information_content":100.0}
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{"id":"HP:0001125","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Transient unilateral blurring of vision","equivalent_identifiers":["HP:0001125","UMLS:C1865332"],"information_content":100.0}
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{"id":"HP:0001133","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Constriction of peripheral visual field","equivalent_identifiers":["HP:0001133","UMLS:C0235095","UMLS:C5574726","MEDDRA:10047554","SNOMEDCT:1151008","SNOMEDCT:267628004"],"information_content":88.2}
{"id":"HP:0001135","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chorioretinal dystrophy","equivalent_identifiers":["HP:0001135","UMLS:C1857627"],"information_content":100.0}
{"id":"HP:0001136","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinal arteriolar tortuosity","equivalent_identifiers":["HP:0001136","UMLS:C1843517","UMLS:C5779554"],"information_content":100.0}
{"id":"HP:0001141","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Severely reduced visual acuity","equivalent_identifiers":["HP:0001141","UMLS:C1301509","SNOMEDCT:397541004"],"information_content":100.0}
{"id":"HP:0001142","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lenticonus","equivalent_identifiers":["HP:0001142","UMLS:C0239119","SNOMEDCT:253221000"],"information_content":92.8}
{"id":"HP:0001147","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinal exudate","equivalent_identifiers":["HP:0001147","UMLS:C0240897","UMLS:C0271053","MEDDRA:10011222","MEDDRA:10038862","MEDDRA:10038865","MEDDRA:10041287","SNOMEDCT:39832008"],"information_content":88.2}
{"id":"HP:0001151","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Impaired horizontal smooth pursuit","equivalent_identifiers":["HP:0001151","UMLS:C1866753"],"information_content":100.0}
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{"id":"HP:0001522","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Infant Death","equivalent_identifiers":["HP:0001522","UMLS:C0549159","UMLS:C1844947","SNOMEDCT:240297000","MESH:D066088"],"information_content":100.0}
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{"id":"HP:0001572","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Macrodontia","equivalent_identifiers":["HP:0001572","UMLS:C0266036","UMLS:C4280590","UMLS:C4280591","UMLS:C4280592","MEDDRA:10088214","SNOMEDCT:71485000"],"information_content":86.3}
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{"id":"HP:0001580","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pigmented micronodular adrenocortical disease","equivalent_identifiers":["HP:0001580","UMLS:C1968851"],"information_content":100.0}
{"id":"HP:0001581","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Recurrent skin infections","equivalent_identifiers":["HP:0001581","UMLS:C1853193","SNOMEDCT:736979001"],"information_content":79.3}
{"id":"HP:0001582","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Redundant skin","equivalent_identifiers":["HP:0001582","UMLS:C0581342","SNOMEDCT:201093004"],"information_content":90.9}
{"id":"HP:0001583","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rotary nystagmus","equivalent_identifiers":["HP:0001583","UMLS:C0240595","MEDDRA:10078756","SNOMEDCT:44526006","SNOMEDCT:95783006"],"information_content":100.0}
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{"id":"HP:0001593","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Maxillary lateral incisor microdontia","equivalent_identifiers":["HP:0001593","UMLS:C1845111","UMLS:C4280588","UMLS:C4280589"],"information_content":100.0}
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{"id":"HP:0001608","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of the voice","equivalent_identifiers":["HP:0001608","UMLS:C4021776"],"information_content":75.7}
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{"id":"HP:0001611","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nasal voice","equivalent_identifiers":["HP:0001611","UMLS:C0454555","UMLS:C0566620","SNOMEDCT:229645001","SNOMEDCT:289190003"],"information_content":100.0}
{"id":"HP:0001612","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weak cry","equivalent_identifiers":["HP:0001612","UMLS:C0234860","SNOMEDCT:2120003"],"information_content":100.0}
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{"id":"HP:0001623","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Breech presentation","equivalent_identifiers":["HP:0001623","NCIT:C34438","UMLS:C0006157","MEDDRA:10006356","SNOMEDCT:249101006","SNOMEDCT:6096002","MESH:D001946"],"information_content":90.9}
{"id":"HP:0001633","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal mitral valve morphology","equivalent_identifiers":["HP:0001633","UMLS:C4025759"],"information_content":74.7}
{"id":"HP:0001637","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal myocardium morphology","equivalent_identifiers":["HP:0001637","UMLS:C4025758"],"information_content":65.8}
{"id":"HP:0001640","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cardiomegaly","equivalent_identifiers":["HP:0001640","EFO:0002503","NCIT:C61453","UMLS:C0018800","UMLS:C1383860","MEDDRA:10007572","MEDDRA:10007632","MEDDRA:10007634","MEDDRA:10014846","MEDDRA:10019278","MP:0001625","SNOMEDCT:8186001","MESH:D006332"],"information_content":81.7}
{"id":"HP:0001641","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal pulmonary valve morphology","equivalent_identifiers":["HP:0001641","UMLS:C3164374","SNOMEDCT:448643005"],"information_content":76.0}
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{"id":"HP:0001780","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal toe morphology","equivalent_identifiers":["HP:0001780","UMLS:C2674738"],"information_content":56.2}
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{"id":"HP:0001787","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal delivery","equivalent_identifiers":["HP:0001787","UMLS:C0549629","UMLS:C0852962","MEDDRA:10010150","MEDDRA:10061781","SNOMEDCT:274127000"],"information_content":77.6}
{"id":"HP:0001788","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Premature rupture of membranes","equivalent_identifiers":["HP:0001788","NCIT:C87113","UMLS:C0015944","MEDDRA:10036603","SNOMEDCT:237266003","SNOMEDCT:44223004","MESH:D005322"],"information_content":92.8}
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{"id":"HP:0001795","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperconvex nail","equivalent_identifiers":["HP:0001795","UMLS:C0423807","SNOMEDCT:247487009"],"information_content":90.9}
{"id":"HP:0001799","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short nail","equivalent_identifiers":["HP:0001799","UMLS:C0423808","SNOMEDCT:247488004"],"information_content":95.4}
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{"id":"HP:0001802","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent toenail","equivalent_identifiers":["HP:0001802","UMLS:C1844555"],"information_content":92.8}
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{"id":"HP:0001816","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thin nail","equivalent_identifiers":["HP:0001816","UMLS:C0423823","MEDDRA:10060901","SNOMEDCT:63829008"],"information_content":92.8}
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{"id":"HP:0001824","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weight loss","equivalent_identifiers":["HP:0001824","NCIT:C3445","UMLS:C1262477","MEDDRA:10024849","MEDDRA:10024883","MEDDRA:10024886","MEDDRA:10047900","MEDDRA:10048061","SNOMEDCT:262285001","MESH:D015431"],"information_content":58.1}
{"id":"HP:0001829","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Foot polydactyly","equivalent_identifiers":["HP:0001829","UMLS:C0158734","MEDDRA:10036065","SNOMEDCT:62218008"],"information_content":84.2}
{"id":"HP:0001830","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Postaxial foot polydactyly","equivalent_identifiers":["HP:0001830","UMLS:C2112129","UMLS:C4020865","MEDDRA:10089195"],"information_content":95.4}
{"id":"HP:0001831","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short toe","equivalent_identifiers":["HP:0001831","UMLS:C1836195"],"information_content":76.9}
{"id":"HP:0001832","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal metatarsal morphology","equivalent_identifiers":["HP:0001832","UMLS:C4025745"],"information_content":71.5}
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{"id":"HP:0001836","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Camptodactyly of toe","equivalent_identifiers":["HP:0001836","UMLS:C4021774"],"information_content":85.5}
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{"id":"HP:0001840","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Toeing-in","equivalent_identifiers":["HP:0001840","UMLS:C0231791","UMLS:C4082169","MEDDRA:10066313","MEDDRA:10066803","SNOMEDCT:77599005","MESH:D000070592"],"information_content":100.0}
{"id":"HP:0001842","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Foot acroosteolysis","equivalent_identifiers":["HP:0001842","UMLS:C4025744"],"information_content":95.4}
{"id":"HP:0001844","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal hallux morphology","equivalent_identifiers":["HP:0001844","UMLS:C4021773"],"information_content":68.1}
{"id":"HP:0001845","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Overlapping toe","equivalent_identifiers":["HP:0001845","UMLS:C0920299","SNOMEDCT:203541003"],"information_content":100.0}
{"id":"HP:0001847","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Long hallux","equivalent_identifiers":["HP:0001847","UMLS:C1864375"],"information_content":100.0}
{"id":"HP:0001848","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Calcaneovalgus deformity","equivalent_identifiers":["HP:0001848","UMLS:C1860450","UMLS:C4732736"],"information_content":100.0}
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{"id":"HP:0001852","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sandal gap","equivalent_identifiers":["HP:0001852","UMLS:C1840069"],"information_content":100.0}
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{"id":"HP:0001859","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Distal foot symphalangism","equivalent_identifiers":["HP:0001859","UMLS:C4025743"],"information_content":88.2}
{"id":"HP:0001863","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Toe curvature","equivalent_identifiers":["HP:0001863","UMLS:C4021770","UMLS:C4280587","SNOMEDCT:723888006"],"information_content":88.2}
{"id":"HP:0001864","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Clinodactyly of the 5th toe","equivalent_identifiers":["HP:0001864","UMLS:C4025741","UMLS:C4280586"],"information_content":100.0}
{"id":"HP:0001868","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Autoamputation of foot","equivalent_identifiers":["HP:0001868","UMLS:C4025740"],"information_content":100.0}
{"id":"HP:0001869","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Deep plantar creases","equivalent_identifiers":["HP:0001869","UMLS:C1857953"],"information_content":92.8}
{"id":"HP:0001870","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acroosteolysis of distal phalanges (feet)","equivalent_identifiers":["HP:0001870","UMLS:C4025739"],"information_content":100.0}
{"id":"HP:0001874","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of neutrophils","equivalent_identifiers":["HP:0001874","UMLS:C0427515","SNOMEDCT:250274006"],"information_content":73.9}
{"id":"HP:0001877","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal erythrocyte morphology","equivalent_identifiers":["HP:0001877","UMLS:C0391870","MEDDRA:10000202","MEDDRA:10015253","MEDDRA:10015268","MEDDRA:10015269","MEDDRA:10037921","MEDDRA:10038146","MEDDRA:10061548","SNOMEDCT:12222001"],"information_content":60.1}
{"id":"HP:0001879","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal eosinophil morphology","equivalent_identifiers":["HP:0001879","UMLS:C0855999","UMLS:C4025738","MEDDRA:10014948","MEDDRA:10061843"],"information_content":76.2}
{"id":"HP:0001881","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal leukocyte morphology","equivalent_identifiers":["HP:0001881","UMLS:C0152009","MEDDRA:10024376","MEDDRA:10047855","MEDDRA:10047856","MEDDRA:10047935","SNOMEDCT:134199001","SNOMEDCT:24827003"],"information_content":55.7}
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{"id":"HP:0001885","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short 2nd toe","equivalent_identifiers":["HP:0001885","UMLS:C4021769"],"information_content":100.0}
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{"id":"HP:0001892","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal bleeding","equivalent_identifiers":["HP:0001892","UMLS:C1458140","MEDDRA:10005133","MEDDRA:10005134","MEDDRA:10018967","MEDDRA:10055261","SNOMEDCT:248250000"],"information_content":66.9}
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{"id":"HP:0001899","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased hematocrit","equivalent_identifiers":["HP:0001899","UMLS:C0239935","MEDDRA:10018839","MEDDRA:10018840","MEDDRA:10018844","MEDDRA:10019424","MEDDRA:10033357","MEDDRA:10034187","MEDDRA:10060545","MEDDRA:10060600","SNOMEDCT:165413005"],"information_content":100.0}
{"id":"HP:0001900","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased circulating hemoglobin concentration","equivalent_identifiers":["HP:0001900","NCIT:C78333","UMLS:C0549448","MEDDRA:10018887","MEDDRA:10018888","MEDDRA:10055598","MEDDRA:10055599","SNOMEDCT:131141003"],"information_content":84.8}
{"id":"HP:0001902","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Giant platelets","equivalent_identifiers":["HP:0001902","UMLS:C0333864","SNOMEDCT:44687006"],"information_content":95.4}
{"id":"HP:0001904","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Autoimmune neutropenia","equivalent_identifiers":["HP:0001904","NCIT:C176730","UMLS:C0340971","MEDDRA:10055128","SNOMEDCT:234425008"],"information_content":100.0}
{"id":"HP:0001905","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital thrombocytopenia","equivalent_identifiers":["HP:0001905","UMLS:C0272278","MEDDRA:10077833","SNOMEDCT:737221003"],"information_content":100.0}
{"id":"HP:0001907","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thromboembolism","equivalent_identifiers":["HP:0001907","NCIT:C28195","UMLS:C0040038","UMLS:C0085307","MEDDRA:10014523","MEDDRA:10043565","MEDDRA:10043566","MEDDRA:10043567","SNOMEDCT:13713005","SNOMEDCT:371039008","MESH:D013923","MESH:D016769"],"information_content":86.3}
{"id":"HP:0001908","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoplastic anemia","equivalent_identifiers":["HP:0001908","UMLS:C0178416","MEDDRA:10002061","MEDDRA:10002294","MEDDRA:10021074","MEDDRA:10021075","SNOMEDCT:167923006","SNOMEDCT:41614006"],"information_content":92.8}
{"id":"HP:0001911","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal granulocyte morphology","equivalent_identifiers":["HP:0001911","UMLS:C4551567"],"information_content":67.3}
{"id":"HP:0001912","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal basophil morphology","equivalent_identifiers":["HP:0001912","UMLS:C0855997","UMLS:C4025736","MEDDRA:10004171","MEDDRA:10061689"],"information_content":85.5}
{"id":"HP:0001917","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Renal amyloidosis","equivalent_identifiers":["HP:0001917","UMLS:C0268382","MEDDRA:10038357","SNOMEDCT:48713002"],"information_content":92.8}
{"id":"HP:0001920","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Renal artery stenosis","equivalent_identifiers":["HP:0001920","NCIT:C123221","UMLS:C0035067","MEDDRA:10038378","MEDDRA:10038379","SNOMEDCT:282664001","SNOMEDCT:302233006"],"information_content":89.4}
{"id":"HP:0001922","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vacuolated lymphocytes","equivalent_identifiers":["HP:0001922","UMLS:C1836855"],"information_content":95.4}
{"id":"HP:0001923","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reticulocytosis","equivalent_identifiers":["HP:0001923","NCIT:C153333","UMLS:C0206160","MEDDRA:10038796","SNOMEDCT:46049004","MESH:D045262"],"information_content":95.4}
{"id":"HP:0001927","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acanthocytosis","equivalent_identifiers":["HP:0001927","UMLS:C0687751","MEDDRA:10052483","MEDDRA:10052512","MEDDRA:10064504","SNOMEDCT:250249008"],"information_content":100.0}
{"id":"HP:0001933","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Subcutaneous hemorrhage","equivalent_identifiers":["HP:0001933","UMLS:C0854107","MEDDRA:10018999","MEDDRA:10055274"],"information_content":83.6}
{"id":"HP:0001934","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Persistent bleeding after trauma","equivalent_identifiers":["HP:0001934","UMLS:C1844374"],"information_content":100.0}
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{"id":"HP:0001963","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal speech discrimination","equivalent_identifiers":["HP:0001963","UMLS:C1836752"],"information_content":100.0}
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{"id":"HP:0001965","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal scalp morphology","equivalent_identifiers":["HP:0001965","UMLS:C4025734"],"information_content":78.5}
{"id":"HP:0001966","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal glomerular mesangium morphology","equivalent_identifiers":["HP:0001966","UMLS:C4025733"],"information_content":77.6}
{"id":"HP:0001969","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal tubulointerstitial morphology","equivalent_identifiers":["HP:0001969","UMLS:C4025732"],"information_content":84.8}
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{"id":"HP:0001977","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal thrombosis","equivalent_identifiers":["HP:0001977","UMLS:C4025731"],"information_content":76.2}
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{"id":"HP:0001980","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Megaloblastic bone marrow","equivalent_identifiers":["HP:0001980","UMLS:C0238801","SNOMEDCT:167921008"],"information_content":100.0}
{"id":"HP:0001981","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schistocytosis","equivalent_identifiers":["HP:0001981","UMLS:C0344386","MEDDRA:10051835","MEDDRA:10076534","SNOMEDCT:385472000"],"information_content":100.0}
{"id":"HP:0001983","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reduced lymphocyte surface expression of CD43","equivalent_identifiers":["HP:0001983","UMLS:C4021766"],"information_content":100.0}
{"id":"HP:0001984","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Intolerance to protein","equivalent_identifiers":["HP:0001984","UMLS:C1396243","MEDDRA:10082917"],"information_content":95.4}
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{"id":"HP:0001987","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperammonemia","equivalent_identifiers":["HP:0001987","NCIT:C98950","UMLS:C0220994","UMLS:C5574662","MEDDRA:10020575","MEDDRA:10020576","SNOMEDCT:9360008","MESH:D022124"],"information_content":80.2}
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{"id":"HP:0001993","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ketoacidosis","equivalent_identifiers":["HP:0001993","UMLS:C0220982","MEDDRA:10023379","SNOMEDCT:56051008","MESH:D007662"],"information_content":90.9}
{"id":"HP:0001995","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperchloremic acidosis","equivalent_identifiers":["HP:0001995","UMLS:C0085569","MEDDRA:10000489","MEDDRA:10000490","MEDDRA:10020598","MEDDRA:10020600","SNOMEDCT:18104000"],"information_content":95.4}
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{"id":"HP:0002000","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short columella","equivalent_identifiers":["HP:0002000","UMLS:C1857479","UMLS:C4280585"],"information_content":100.0}
{"id":"HP:0002002","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Deep philtrum","equivalent_identifiers":["HP:0002002","UMLS:C1839797","UMLS:C4020861"],"information_content":100.0}
{"id":"HP:0002003","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Large forehead","equivalent_identifiers":["HP:0002003","UMLS:C1839783","UMLS:C4280583","UMLS:C4280584"],"information_content":89.4}
{"id":"HP:0002007","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Frontal bossing","equivalent_identifiers":["HP:0002007","NCIT:C98242","UMLS:C0221354","MEDDRA:10073035","SNOMEDCT:90145001"],"information_content":95.4}
{"id":"HP:0002009","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Potter facies","equivalent_identifiers":["HP:0002009","UMLS:C0266619","SNOMEDCT:24814002"],"information_content":100.0}
{"id":"HP:0002010","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Narrow maxilla","equivalent_identifiers":["HP:0002010","UMLS:C1851835"],"information_content":95.4}
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{"id":"HP:0002013","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vomiting","equivalent_identifiers":["HP:0002013","NCIT:C3442","UMLS:C0042963","MEDDRA:10014542","MEDDRA:10047699","MEDDRA:10047700","MEDDRA:10047706","SNOMEDCT:249497008","SNOMEDCT:300359004","SNOMEDCT:422400008","MESH:D014839"],"information_content":67.2}
{"id":"HP:0002015","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dysphagia","equivalent_identifiers":["HP:0002015","NCIT:C2980","UMLS:C0011168","MEDDRA:10012173","MEDDRA:10013213","MEDDRA:10013950","MEDDRA:10042645","MEDDRA:10042646","SNOMEDCT:288939007","SNOMEDCT:40739000","MESH:D003680"],"information_content":71.6}
{"id":"HP:0002017","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nausea and vomiting","equivalent_identifiers":["HP:0002017","NCIT:C3259","UMLS:C0027498","MEDDRA:10028817","SNOMEDCT:16932000"],"information_content":66.9}
{"id":"HP:0002018","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nausea","equivalent_identifiers":["HP:0002018","NCIT:C3258","UMLS:C0027497","MEDDRA:10016361","MEDDRA:10028813","MEDDRA:10028822","MEDDRA:10028823","MEDDRA:10037730","SNOMEDCT:422587007","MESH:D009325"],"information_content":71.8}
{"id":"HP:0002024","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Malabsorption","equivalent_identifiers":["HP:0002024","NCIT:C113483","UMLS:C3714745"],"information_content":84.2}
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{"id":"HP:0002031","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal esophagus morphology","equivalent_identifiers":["HP:0002031","UMLS:C0266126","MEDDRA:10010563","MEDDRA:10055452","MEDDRA:10061069","SNOMEDCT:69771008"],"information_content":73.8}
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{"id":"HP:0002034","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal rectum morphology","equivalent_identifiers":["HP:0002034","UMLS:C0266210","UMLS:C5399764","SNOMEDCT:86993003"],"information_content":77.3}
{"id":"HP:0002038","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Protein avoidance","equivalent_identifiers":["HP:0002038","UMLS:C1839531"],"information_content":100.0}
{"id":"HP:0002041","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Intractable diarrhea","equivalent_identifiers":["HP:0002041","UMLS:C0743178"],"information_content":100.0}
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{"id":"HP:0002045","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypothermia","equivalent_identifiers":["HP:0002045","NCIT:C50523","NCIT:C78351","UMLS:C0020672","MEDDRA:10005909","MEDDRA:10005910","MEDDRA:10043202","SNOMEDCT:386689009","MESH:D007035"],"information_content":95.4}
{"id":"HP:0002046","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heat intolerance","equivalent_identifiers":["HP:0002046","UMLS:C0231274","MEDDRA:10019339","MEDDRA:10056596","SNOMEDCT:69215007"],"information_content":100.0}
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{"id":"HP:0002055","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Curved linear dimple below the lower lip","equivalent_identifiers":["HP:0002055","UMLS:C1844572"],"information_content":100.0}
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{"id":"HP:0002062","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal pyramidal tract morphology","equivalent_identifiers":["HP:0002062","UMLS:C4020859","UMLS:C4021761"],"information_content":81.3}
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{"id":"HP:0002067","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bradykinesia","equivalent_identifiers":["HP:0002067","NCIT:C116707","UMLS:C0233565","UMLS:C0920289","MEDDRA:10006100","MEDDRA:10041052","MEDDRA:10083339","SNOMEDCT:399317006"],"information_content":100.0}
{"id":"HP:0002068","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neuromuscular dysphagia","equivalent_identifiers":["HP:0002068","UMLS:C4025729"],"information_content":100.0}
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{"id":"HP:0002071","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of extrapyramidal motor function","equivalent_identifiers":["HP:0002071","NCIT:C79593","UMLS:C0015371","UMLS:C0234133","MEDDRA:10015832","MEDDRA:10015835","MEDDRA:10015836","MEDDRA:10042804","SNOMEDCT:43378000","SNOMEDCT:76349003"],"information_content":77.1}
{"id":"HP:0002073","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Progressive cerebellar ataxia","equivalent_identifiers":["HP:0002073","UMLS:C0393525","SNOMEDCT:230233000"],"information_content":100.0}
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{"id":"HP:0002078","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Truncal ataxia","equivalent_identifiers":["HP:0002078","UMLS:C0427190","SNOMEDCT:250067008"],"information_content":95.4}
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{"id":"HP:0002100","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Recurrent aspiration pneumonia","equivalent_identifiers":["HP:0002100","UMLS:C0747651","SNOMEDCT:430969000"],"information_content":100.0}
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{"id":"HP:0002157","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Azotemia","equivalent_identifiers":["HP:0002157","UMLS:C0242528","MEDDRA:10003885","MEDDRA:10003886","SNOMEDCT:445009001","MESH:D053099"],"information_content":64.3}
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{"id":"HP:0002174","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Postural tremor","equivalent_identifiers":["HP:0002174","UMLS:C0234378","MEDDRA:10073211","SNOMEDCT:56610005"],"information_content":95.4}
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{"id":"HP:0002332","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lack of peer relationships","equivalent_identifiers":["HP:0002332","UMLS:C1845337"],"information_content":100.0}
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{"id":"HP:0002339","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal caudate nucleus morphology","equivalent_identifiers":["HP:0002339","UMLS:C4025711"],"information_content":87.2}
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{"id":"HP:0002367","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Visual hallucination","equivalent_identifiers":["HP:0002367","NCIT:C118179","UMLS:C0233763","MEDDRA:10019068","MEDDRA:10019075","MEDDRA:10047570","SNOMEDCT:64269007"],"information_content":95.4}
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{"id":"HP:0002396","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cogwheel rigidity","equivalent_identifiers":["HP:0002396","NCIT:C182451","UMLS:C0151564","MEDDRA:10009848","MEDDRA:10039170","SNOMEDCT:55630000"],"information_content":100.0}
{"id":"HP:0002398","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Degeneration of anterior horn cells","equivalent_identifiers":["HP:0002398","UMLS:C1843505"],"information_content":95.4}
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{"id":"HP:0002418","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal midbrain morphology","equivalent_identifiers":["HP:0002418","UMLS:C4021755"],"information_content":69.5}
{"id":"HP:0002419","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Molar tooth sign on MRI","equivalent_identifiers":["HP:0002419","UMLS:C1865060"],"information_content":100.0}
{"id":"HP:0002421","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Poor head control","equivalent_identifiers":["HP:0002421","UMLS:C1836038"],"information_content":100.0}
{"id":"HP:0002423","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Long-tract sign","equivalent_identifiers":["HP:0002423","UMLS:C1865903"],"information_content":87.2}
{"id":"HP:0002425","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anarthria","equivalent_identifiers":["HP:0002425","UMLS:C0234517","MEDDRA:10086957","SNOMEDCT:48257004"],"information_content":100.0}
{"id":"HP:0002427","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Broca's Aphasia","equivalent_identifiers":["HP:0002427","NCIT:C34394","UMLS:C0003550","UMLS:C0917814","MEDDRA:10002949","MEDDRA:10006378","MEDDRA:10015713","MEDDRA:10015714","SNOMEDCT:229654003","SNOMEDCT:229665008","SNOMEDCT:328681008","MESH:D001039"],"information_content":100.0}
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{"id":"HP:0002439","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Frontolimbic dementia","equivalent_identifiers":["HP:0002439","UMLS:C1836151"],"information_content":100.0}
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{"id":"HP:0003167","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carnosinuria","equivalent_identifiers":["HP:0003167","UMLS:C3495558","SNOMEDCT:410051001"],"information_content":100.0}
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{"id":"HP:0005259","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal facility in opposing the shoulders","equivalent_identifiers":["HP:0005259","UMLS:C1861517"],"information_content":100.0}
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{"id":"HP:0009717","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cortical tubers","equivalent_identifiers":["HP:0009717","UMLS:C1968959","MEDDRA:10080647"],"information_content":100.0}
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{"id":"HP:0009721","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shagreen patch","equivalent_identifiers":["HP:0009721","UMLS:C0432363","SNOMEDCT:254244007"],"information_content":100.0}
{"id":"HP:0009722","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dental enamel pits","equivalent_identifiers":["HP:0009722","UMLS:C1860711"],"information_content":100.0}
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{"id":"HP:0009724","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Subungual fibromas","equivalent_identifiers":["HP:0009724","UMLS:C0266003","SNOMEDCT:39295002"],"information_content":100.0}
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{"id":"HP:0009738","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal antihelix morphology","equivalent_identifiers":["HP:0009738","UMLS:C4021395"],"information_content":80.6}
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{"id":"HP:0009813","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Upper limb phocomelia","equivalent_identifiers":["HP:0009813","NCIT:C35322","UMLS:C0265573","SNOMEDCT:253926000"],"information_content":100.0}
{"id":"HP:0009814","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Upper limb peromelia","equivalent_identifiers":["HP:0009814","UMLS:C4024199"],"information_content":100.0}
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{"id":"HP:0009816","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lower limb undergrowth","equivalent_identifiers":["HP:0009816","UMLS:C0345371","SNOMEDCT:253959002"],"information_content":74.3}
{"id":"HP:0009818","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Amelia involving the lower limbs","equivalent_identifiers":["HP:0009818","UMLS:C4024197"],"information_content":100.0}
{"id":"HP:0009820","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lower limb peromelia","equivalent_identifiers":["HP:0009820","UMLS:C4024196"],"information_content":100.0}
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{"id":"HP:0010519","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased fetal movement","equivalent_identifiers":["HP:0010519","UMLS:C4021256","MEDDRA:10086915","MEDDRA:10086921"],"information_content":100.0}
{"id":"HP:0010530","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Palatal tremor","equivalent_identifiers":["HP:0010530","UMLS:C0030214","MEDDRA:10051575","SNOMEDCT:9366002"],"information_content":100.0}
{"id":"HP:0010531","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spinal myoclonus","equivalent_identifiers":["HP:0010531","UMLS:C3697670","SNOMEDCT:698836007"],"information_content":100.0}
{"id":"HP:0010532","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paroxysmal vertigo","equivalent_identifiers":["HP:0010532","UMLS:C0522357","SNOMEDCT:103290003"],"information_content":100.0}
{"id":"HP:0010537","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wide cranial sutures","equivalent_identifiers":["HP:0010537","UMLS:C0410935","SNOMEDCT:268855009"],"information_content":86.3}
{"id":"HP:0010538","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Small sella turcica","equivalent_identifiers":["HP:0010538","UMLS:C4023794","UMLS:C4072875","UMLS:C4072876"],"information_content":100.0}
{"id":"HP:0010539","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thin calvarium","equivalent_identifiers":["HP:0010539","UMLS:C1856231","UMLS:C4280379"],"information_content":100.0}
{"id":"HP:0010540","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Advanced pneumatization of cranial sinuses","equivalent_identifiers":["HP:0010540","UMLS:C4023793"],"information_content":100.0}
{"id":"HP:0010542","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vestibular nystagmus","equivalent_identifiers":["HP:0010542","UMLS:C0155379","MEDDRA:10068101","SNOMEDCT:46888001"],"information_content":100.0}
{"id":"HP:0010543","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Opsoclonus","equivalent_identifiers":["HP:0010543","NCIT:C118720","UMLS:C0242567","MEDDRA:10090043","SNOMEDCT:194177006"],"information_content":100.0}
{"id":"HP:0010544","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vertical nystagmus","equivalent_identifiers":["HP:0010544","UMLS:C0271386","SNOMEDCT:111533001"],"information_content":92.8}
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{"id":"HP:0010547","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Flaccidity","equivalent_identifiers":["HP:0010547","NCIT:C34828","UMLS:C0026825","MEDDRA:10016745","MEDDRA:10016746","MEDDRA:10028308","MEDDRA:10028345","SNOMEDCT:186611004","SNOMEDCT:397488002"],"information_content":95.4}
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{"id":"HP:0010549","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weakness due to upper motor neuron dysfunction","equivalent_identifiers":["HP:0010549","UMLS:C4021255"],"information_content":66.9}
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{"id":"HP:0010557","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Overlapping fingers","equivalent_identifiers":["HP:0010557","UMLS:C1446712"],"information_content":100.0}
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{"id":"HP:0010567","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Y-shaped metatarsals","equivalent_identifiers":["HP:0010567","UMLS:C4023789"],"information_content":100.0}
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{"id":"HP:0010588","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Premature epimetaphyseal fusion","equivalent_identifiers":["HP:0010588","UMLS:C0151628","MEDDRA:10009666","MEDDRA:10015073","MEDDRA:10015078","MEDDRA:10015081","MEDDRA:10036598","MEDDRA:10083849","SNOMEDCT:89493005"],"information_content":87.2}
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{"id":"HP:0010593","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal fibular epiphysis morphology","equivalent_identifiers":["HP:0010593","UMLS:C4023780"],"information_content":88.2}
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{"id":"HP:0010612","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Plantar pits","equivalent_identifiers":["HP:0010612","UMLS:C1852301"],"information_content":100.0}
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{"id":"HP:0010620","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Malar prominence","equivalent_identifiers":["HP:0010620","UMLS:C1858732","UMLS:C4280374","MESH:C000721290"],"information_content":100.0}
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{"id":"HP:0010626","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anterior pituitary agenesis","equivalent_identifiers":["HP:0010626","UMLS:C4021249"],"information_content":100.0}
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{"id":"HP:0010632","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Total anosmia","equivalent_identifiers":["HP:0010632","UMLS:C4023768"],"information_content":100.0}
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{"id":"HP:0010637","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Conjunctival amyloidosis","equivalent_identifiers":["HP:0010637","UMLS:C0268402","SNOMEDCT:59017008"],"information_content":100.0}
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{"id":"HP:0010644","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Midnasal stenosis","equivalent_identifiers":["HP:0010644","UMLS:C1840238"],"information_content":95.4}
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{"id":"HP:0010646","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cervical spine instability","equivalent_identifiers":["HP:0010646","UMLS:C0410652","SNOMEDCT:202821008"],"information_content":100.0}
{"id":"HP:0010647","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal elasticity of skin","equivalent_identifiers":["HP:0010647","UMLS:C4023760"],"information_content":79.6}
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{"id":"HP:0011451","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Primary microcephaly","equivalent_identifiers":["HP:0011451","NCIT:C128732","UMLS:C2677180","UMLS:C4020749","SNOMEDCT:1148758003"],"information_content":100.0}
{"id":"HP:0011452","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Functional abnormality of the middle ear","equivalent_identifiers":["HP:0011452","UMLS:C4021846"],"information_content":80.6}
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{"id":"HP:0011469","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nasal regurgitation","equivalent_identifiers":["HP:0011469","UMLS:C0232608","SNOMEDCT:85023004"],"information_content":100.0}
{"id":"HP:0011470","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nasogastric tube feeding in infancy","equivalent_identifiers":["HP:0011470","UMLS:C4023343"],"information_content":100.0}
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{"id":"HP:0011488","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal corneal endothelium morphology","equivalent_identifiers":["HP:0011488","UMLS:C4023332"],"information_content":82.6}
{"id":"HP:0011489","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal migration of corneal endothelium","equivalent_identifiers":["HP:0011489","UMLS:C4023331"],"information_content":95.4}
{"id":"HP:0011490","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal Descemet membrane morphology","equivalent_identifiers":["HP:0011490","UMLS:C4023330"],"information_content":85.5}
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{"id":"HP:0011499","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mydriasis","equivalent_identifiers":["HP:0011499","NCIT:C193441","UMLS:C0026961","MEDDRA:10013007","MEDDRA:10013014","MEDDRA:10028521","MEDDRA:10037535","SNOMEDCT:37125009","MESH:D015878"],"information_content":95.4}
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{"id":"HP:0011510","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Drusen","equivalent_identifiers":["HP:0011510","NCIT:C161546","UMLS:C0333440","UMLS:C1260959","SNOMEDCT:18695008"],"information_content":92.8}
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{"id":"HP:0011520","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Deuteranomaly","equivalent_identifiers":["HP:0011520","UMLS:C3887938"],"information_content":100.0}
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{"id":"HP:0011525","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Iris nevus","equivalent_identifiers":["HP:0011525","NCIT:C4556","UMLS:C0346376","MEDDRA:10051044","MEDDRA:10062795","SNOMEDCT:95711003"],"information_content":100.0}
{"id":"HP:0011527","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lentiglobus","equivalent_identifiers":["HP:0011527","UMLS:C1622439","UMLS:C4280322","SNOMEDCT:419281007"],"information_content":100.0}
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{"id":"HP:0011537","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Left atrial isomerism","equivalent_identifiers":["HP:0011537","UMLS:C3178807","MEDDRA:10080600"],"information_content":100.0}
{"id":"HP:0011538","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Atrial situs inversus","equivalent_identifiers":["HP:0011538","UMLS:C4023312","SNOMEDCT:871616009"],"information_content":100.0}
{"id":"HP:0011539","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Atrial situs ambiguous","equivalent_identifiers":["HP:0011539","UMLS:C3164429","SNOMEDCT:448681000"],"information_content":100.0}
{"id":"HP:0011546","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal atrioventricular connection","equivalent_identifiers":["HP:0011546","UMLS:C0344612","SNOMEDCT:253274005"],"information_content":80.9}
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{"id":"HP:0011553","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Discordant atrioventricular connection","equivalent_identifiers":["HP:0011553","UMLS:C0344615","MEDDRA:10087159","SNOMEDCT:253277003"],"information_content":100.0}
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{"id":"HP:0011563","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal ventriculoarterial connection","equivalent_identifiers":["HP:0011563","UMLS:C2959359","UMLS:C4023296","SNOMEDCT:253295000"],"information_content":78.5}
{"id":"HP:0011565","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Common atrium","equivalent_identifiers":["HP:0011565","UMLS:C0392482","MEDDRA:10083205","SNOMEDCT:253276007"],"information_content":100.0}
{"id":"HP:0011569","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cleft anterior mitral valve leaflet","equivalent_identifiers":["HP:0011569","UMLS:C4023295"],"information_content":100.0}
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{"id":"HP:0012100","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal circulating creatinine concentration","equivalent_identifiers":["HP:0012100","UMLS:C4021101"],"information_content":88.2}
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{"id":"HP:0012127","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Uraciluria","equivalent_identifiers":["HP:0012127","UMLS:C4021833"],"information_content":100.0}
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{"id":"HP:0012208","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Immotile sperm","equivalent_identifiers":["HP:0012208","UMLS:C1278278","UMLS:C4023001","SNOMEDCT:315220002"],"information_content":100.0}
{"id":"HP:0012210","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal renal morphology","equivalent_identifiers":["HP:0012210","UMLS:C4551596"],"information_content":55.7}
{"id":"HP:0012211","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal renal physiology","equivalent_identifiers":["HP:0012211","UMLS:C0151746","MEDDRA:10013902","MEDDRA:10017473","MEDDRA:10023417","MEDDRA:10023422","MEDDRA:10038451","SNOMEDCT:39539005"],"information_content":65.6}
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{"id":"HP:0012216","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Entrapment neuropathy of suprascapular nerve","equivalent_identifiers":["HP:0012216","UMLS:C0393890","SNOMEDCT:230635000"],"information_content":100.0}
{"id":"HP:0012217","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased urinary porphobilinogen","equivalent_identifiers":["HP:0012217","UMLS:C4023000"],"information_content":100.0}
{"id":"HP:0012220","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Non-caseating epithelioid cell granulomatosis","equivalent_identifiers":["HP:0012220","UMLS:C4022999"],"information_content":100.0}
{"id":"HP:0012222","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Arachnoid hemangiomatosis","equivalent_identifiers":["HP:0012222","UMLS:C4022998"],"information_content":100.0}
{"id":"HP:0012223","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Splenic rupture","equivalent_identifiers":["HP:0012223","NCIT:C35032","UMLS:C0038000","MEDDRA:10039310","MEDDRA:10039325","MEDDRA:10041638","MEDDRA:10041658","SNOMEDCT:234506007","MESH:D013161"],"information_content":95.4}
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{"id":"HP:0012231","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Exudative retinal detachment","equivalent_identifiers":["HP:0012231","NCIT:C118756","UMLS:C0154822","MEDDRA:10040114","MEDDRA:10089651","SNOMEDCT:38599001"],"information_content":100.0}
{"id":"HP:0012232","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shortened QT interval","equivalent_identifiers":["HP:0012232","UMLS:C0151879","MEDDRA:10014388","MEDDRA:10037704","MEDDRA:10037706","MEDDRA:10040598","SNOMEDCT:77867006"],"information_content":100.0}
{"id":"HP:0012233","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Muscle hematoma","equivalent_identifiers":["HP:0012233","UMLS:C0240412","MEDDRA:10019433","MEDDRA:10055890","SNOMEDCT:262969000"],"information_content":100.0}
{"id":"HP:0012234","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Agranulocytosis","equivalent_identifiers":["HP:0012234","NCIT:C107102","UMLS:C0702094"],"information_content":89.4}
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{"id":"HP:0012236","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Elevated sweat chloride","equivalent_identifiers":["HP:0012236","UMLS:C1856646"],"information_content":100.0}
{"id":"HP:0012238","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased circulating chylomicron concentration","equivalent_identifiers":["HP:0012238","UMLS:C1535978","MEDDRA:10020606","MEDDRA:10020607","MEDDRA:10064233"],"information_content":95.4}
{"id":"HP:0012240","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased intramyocellular lipid droplets","equivalent_identifiers":["HP:0012240","UMLS:C4020730"],"information_content":100.0}
{"id":"HP:0012241","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Levator palpebrae superioris atrophy","equivalent_identifiers":["HP:0012241","UMLS:C1851107"],"information_content":100.0}
{"id":"HP:0012242","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Superior rectus atrophy","equivalent_identifiers":["HP:0012242","UMLS:C1851108"],"information_content":100.0}
{"id":"HP:0012243","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal reproductive system morphology","equivalent_identifiers":["HP:0012243","UMLS:C4021096"],"information_content":52.4}
{"id":"HP:0012244","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal sex determination","equivalent_identifiers":["HP:0012244","UMLS:C4022996"],"information_content":95.4}
{"id":"HP:0012245","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sex reversal","equivalent_identifiers":["HP:0012245","UMLS:C4022995"],"information_content":100.0}
{"id":"HP:0012248","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prolonged PR interval","equivalent_identifiers":["HP:0012248","EFO:0020929","NCIT:C62247","UMLS:C0600125","MEDDRA:10036471","MEDDRA:10036473","MEDDRA:10053655","MEDDRA:10053657","SNOMEDCT:164947007"],"information_content":100.0}
{"id":"HP:0012249","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal ST segment","equivalent_identifiers":["HP:0012249","UMLS:C4022993"],"information_content":86.3}
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{"id":"HP:0012251","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ST segment elevation","equivalent_identifiers":["HP:0012251","NCIT:C50540","UMLS:C0520886","MEDDRA:10014392","MEDDRA:10041887","MEDDRA:10041893","MEDDRA:10041894","SNOMEDCT:164931005","SNOMEDCT:76388001"],"information_content":92.8}
{"id":"HP:0012252","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal respiratory system morphology","equivalent_identifiers":["HP:0012252","UMLS:C4022992"],"information_content":55.1}
{"id":"HP:0012255","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dynein arm defect of respiratory motile cilia","equivalent_identifiers":["HP:0012255","UMLS:C4022990"],"information_content":86.3}
{"id":"HP:0012256","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent outer dynein arms","equivalent_identifiers":["HP:0012256","UMLS:C4022989"],"information_content":95.4}
{"id":"HP:0012257","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent inner dynein arms","equivalent_identifiers":["HP:0012257","UMLS:C4022988"],"information_content":95.4}
{"id":"HP:0012258","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal axonemal organization of respiratory motile cilia","equivalent_identifiers":["HP:0012258","UMLS:C4022987"],"information_content":100.0}
{"id":"HP:0012259","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent inner and outer dynein arms","equivalent_identifiers":["HP:0012259","UMLS:C4022986"],"information_content":100.0}
{"id":"HP:0012260","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal central microtubular pair morphology of respiratory motile cilia","equivalent_identifiers":["HP:0012260","UMLS:C4022985"],"information_content":100.0}
{"id":"HP:0012262","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal ciliary motility","equivalent_identifiers":["HP:0012262","UMLS:C4022983"],"information_content":92.8}
{"id":"HP:0012263","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Immotile cilia","equivalent_identifiers":["HP:0012263","UMLS:C1855672"],"information_content":100.0}
{"id":"HP:0012264","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent central microtubular pair morphology of respiratory motile cilia","equivalent_identifiers":["HP:0012264","UMLS:C4022982"],"information_content":100.0}
{"id":"HP:0012266","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-wave alternans","equivalent_identifiers":["HP:0012266","NCIT:C102718","UMLS:C1998313","SNOMEDCT:428550008"],"information_content":100.0}
{"id":"HP:0012267","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent respiratory ciliary axoneme radial spokes","equivalent_identifiers":["HP:0012267","UMLS:C4022981"],"information_content":100.0}
{"id":"HP:0012269","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal muscle glycogen content","equivalent_identifiers":["HP:0012269","UMLS:C4022980"],"information_content":87.2}
{"id":"HP:0012270","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Decreased muscle glycogen content","equivalent_identifiers":["HP:0012270","UMLS:C4022979"],"information_content":95.4}
{"id":"HP:0012271","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Episodic upper airway obstruction","equivalent_identifiers":["HP:0012271","UMLS:C4022978"],"information_content":100.0}
{"id":"HP:0012272","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"J wave","equivalent_identifiers":["HP:0012272","UMLS:C4018858"],"information_content":100.0}
{"id":"HP:0012273","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased carotid artery intimal medial thickness","equivalent_identifiers":["HP:0012273","UMLS:C4022977"],"information_content":100.0}
{"id":"HP:0012277","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoglycinemia","equivalent_identifiers":["HP:0012277","UMLS:C4022973"],"information_content":95.4}
{"id":"HP:0012278","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal circulating serine concentration","equivalent_identifiers":["HP:0012278","UMLS:C4022972","UMLS:C5139064"],"information_content":88.2}
{"id":"HP:0012279","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyposerinemia","equivalent_identifiers":["HP:0012279","UMLS:C4022971"],"information_content":95.4}
{"id":"HP:0012280","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hepatic amyloidosis","equivalent_identifiers":["HP:0012280","UMLS:C0267839","MEDDRA:10075251","SNOMEDCT:9551004"],"information_content":100.0}
{"id":"HP:0012282","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Morbilliform rash","equivalent_identifiers":["HP:0012282","UMLS:C0234918","MEDDRA:10027022","MEDDRA:10027023","MEDDRA:10027967","MEDDRA:10027970","MEDDRA:10037869","MEDDRA:10037870","SNOMEDCT:247470007","SNOMEDCT:50495000"],"information_content":100.0}
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{"id":"HP:0012289","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Facial neoplasm","equivalent_identifiers":["HP:0012289","UMLS:C0015461","SNOMEDCT:126632002","MESH:D005153"],"information_content":90.9}
{"id":"HP:0012292","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fusion of gums","equivalent_identifiers":["HP:0012292","UMLS:C4022966"],"information_content":100.0}
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{"id":"HP:0012301","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Type II transferrin isoform profile","equivalent_identifiers":["HP:0012301","UMLS:C4021094"],"information_content":100.0}
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{"id":"HP:0012305","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coarctation of the descending aortic arch","equivalent_identifiers":["HP:0012305","UMLS:C4022958"],"information_content":90.9}
{"id":"HP:0012307","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spatulate ribs","equivalent_identifiers":["HP:0012307","UMLS:C1856637"],"information_content":100.0}
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{"id":"HP:0012309","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cutaneous amyloidosis","equivalent_identifiers":["HP:0012309","UMLS:C5779562","SNOMEDCT:201337008","SNOMEDCT:281882003"],"information_content":90.9}
{"id":"HP:0012311","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Monocytosis","equivalent_identifiers":["HP:0012311","NCIT:C35147","UMLS:C0085702","MEDDRA:10027906","SNOMEDCT:19636003"],"information_content":80.9}
{"id":"HP:0012312","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Monocytopenia","equivalent_identifiers":["HP:0012312","NCIT:C113714","UMLS:C0427544","MEDDRA:10027905","SNOMEDCT:165539005"],"information_content":90.9}
{"id":"HP:0012318","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Occipital neuralgia","equivalent_identifiers":["HP:0012318","UMLS:C0007863","MEDDRA:10068106","SNOMEDCT:71760005"],"information_content":100.0}
{"id":"HP:0012322","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perifolliculitis","equivalent_identifiers":["HP:0012322","UMLS:C0263006","SNOMEDCT:83341004"],"information_content":100.0}
{"id":"HP:0012328","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cementoma","equivalent_identifiers":["HP:0012328","NCIT:C4308","UMLS:C0007659","MEDDRA:10062564","SNOMEDCT:23255001","SNOMEDCT:37258009","MESH:D002485"],"information_content":100.0}
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{"id":"HP:0012335","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of folate metabolism","equivalent_identifiers":["HP:0012335","UMLS:C4022951"],"information_content":85.5}
{"id":"HP:0012339","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased resting energy expenditure","equivalent_identifiers":["HP:0012339","UMLS:C4022948"],"information_content":100.0}
{"id":"HP:0012340","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Decreased resting energy expenditure","equivalent_identifiers":["HP:0012340","UMLS:C4022947"],"information_content":100.0}
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{"id":"HP:0012344","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Morphea","equivalent_identifiers":["HP:0012344","UMLS:C1527383","MEDDRA:10027979","MEDDRA:10027982","SNOMEDCT:201049004"],"information_content":100.0}
{"id":"HP:0012345","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal glycosylation","equivalent_identifiers":["HP:0012345","UMLS:C4022946"],"information_content":75.7}
{"id":"HP:0012347","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal protein N-linked glycosylation","equivalent_identifiers":["HP:0012347","UMLS:C4022944"],"information_content":79.6}
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{"id":"HP:0012569","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Delayed menarche","equivalent_identifiers":["HP:0012569","UMLS:C0949173","MEDDRA:10063961","SNOMEDCT:455761000124103"],"information_content":95.4}
{"id":"HP:0012572","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ureter duplex","equivalent_identifiers":["HP:0012572","UMLS:C4551489"],"information_content":100.0}
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{"id":"HP:0012802","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Broad jaw","equivalent_identifiers":["HP:0012802","UMLS:C3281059"],"information_content":100.0}
{"id":"HP:0012805","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Iris transillumination defect","equivalent_identifiers":["HP:0012805","UMLS:C1096099","MEDDRA:10053677"],"information_content":100.0}
{"id":"HP:0012806","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Proboscis","equivalent_identifiers":["HP:0012806","UMLS:C0687082","UMLS:C5194070"],"information_content":100.0}
{"id":"HP:0012808","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal nasal base norphology","equivalent_identifiers":["HP:0012808","UMLS:C4022718"],"information_content":92.8}
{"id":"HP:0012809","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Narrow nasal base","equivalent_identifiers":["HP:0012809","UMLS:C4022717"],"information_content":100.0}
{"id":"HP:0012810","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wide nasal base","equivalent_identifiers":["HP:0012810","UMLS:C1849667"],"information_content":100.0}
{"id":"HP:0012811","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wide nasal ridge","equivalent_identifiers":["HP:0012811","UMLS:C4020718"],"information_content":100.0}
{"id":"HP:0012813","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Unilateral breast hypoplasia","equivalent_identifiers":["HP:0012813","UMLS:C1844722"],"information_content":100.0}
{"id":"HP:0012814","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bilateral breast hypoplasia","equivalent_identifiers":["HP:0012814","UMLS:C4022716"],"information_content":100.0}
{"id":"HP:0012815","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoplastic female external genitalia","equivalent_identifiers":["HP:0012815","UMLS:C4022715"],"information_content":88.2}
{"id":"HP:0012817","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noncompaction cardiomyopathy","equivalent_identifiers":["HP:0012817","UMLS:C1839832","MEDDRA:10077217"],"information_content":90.9}
{"id":"HP:0012821","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Unilateral vocal cord paresis","equivalent_identifiers":["HP:0012821","UMLS:C0751577"],"information_content":100.0}
{"id":"HP:0012822","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bilateral vocal cord paresis","equivalent_identifiers":["HP:0012822","UMLS:C0751574"],"information_content":100.0}
{"id":"HP:0012841","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinal vascular tortuosity","equivalent_identifiers":["HP:0012841","UMLS:C1860475","MEDDRA:10088004"],"information_content":90.9}
{"id":"HP:0012844","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Trichilemmoma","equivalent_identifiers":["HP:0012844","NCIT:C4113","UMLS:C0334263","MEDDRA:10044612","MEDDRA:10057991","SNOMEDCT:274900003","SNOMEDCT:46199002"],"information_content":90.9}
{"id":"HP:0012847","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Epilepsia partialis continua","equivalent_identifiers":["HP:0012847","EFO:1000924","UMLS:C0085543","MEDDRA:10015034","SNOMEDCT:241006","MESH:D017036"],"information_content":100.0}
{"id":"HP:0012850","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Small intestinal dysmotility","equivalent_identifiers":["HP:0012850","UMLS:C0345200","SNOMEDCT:253768006"],"information_content":92.8}
{"id":"HP:0012851","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Colonic stenosis","equivalent_identifiers":["HP:0012851","NCIT:C78243","UMLS:C0267466","MEDDRA:10009981","MEDDRA:10010004","MEDDRA:10010005","MEDDRA:10041977","MEDDRA:10041983","MEDDRA:10042234","SNOMEDCT:19132000","SNOMEDCT:8543007"],"information_content":100.0}
{"id":"HP:0012852","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hepatic bridging fibrosis","equivalent_identifiers":["HP:0012852","UMLS:C4022709"],"information_content":100.0}
{"id":"HP:0012853","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scrotal hypospadias","equivalent_identifiers":["HP:0012853","UMLS:C2197691","SNOMEDCT:702462000"],"information_content":100.0}
{"id":"HP:0012854","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Midshaft hypospadias","equivalent_identifiers":["HP:0012854","UMLS:C4022708"],"information_content":100.0}
{"id":"HP:0012855","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scrotal hyperpigmentation","equivalent_identifiers":["HP:0012855","UMLS:C4021062"],"information_content":100.0}
{"id":"HP:0012856","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal scrotal rugation","equivalent_identifiers":["HP:0012856","UMLS:C4022707"],"information_content":92.8}
{"id":"HP:0012858","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Decreased scrotal rugation","equivalent_identifiers":["HP:0012858","UMLS:C4022705"],"information_content":100.0}
{"id":"HP:0012860","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Testicular fibrosis","equivalent_identifiers":["HP:0012860","UMLS:C4021061"],"information_content":100.0}
{"id":"HP:0012861","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ovotestis","equivalent_identifiers":["HP:0012861","UMLS:C4551490","SNOMEDCT:1017223006"],"information_content":100.0}
{"id":"HP:0012863","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal male germ cell morphology","equivalent_identifiers":["HP:0012863","UMLS:C4022703"],"information_content":68.2}
{"id":"HP:0012864","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal sperm morphology","equivalent_identifiers":["HP:0012864","UMLS:C0403824","MEDDRA:10050208","SNOMEDCT:236817003","MESH:D000072660"],"information_content":70.8}
{"id":"HP:0012865","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal sperm head morphology","equivalent_identifiers":["HP:0012865","UMLS:C4022702"],"information_content":82.1}
{"id":"HP:0012867","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal sperm mid-piece morphology","equivalent_identifiers":["HP:0012867","UMLS:C4022700"],"information_content":90.9}
{"id":"HP:0012868","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal sperm tail morphology","equivalent_identifiers":["HP:0012868","UMLS:C4022699"],"information_content":85.5}
{"id":"HP:0012869","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acephalic spermatozoa","equivalent_identifiers":["HP:0012869","UMLS:C4022698"],"information_content":100.0}
{"id":"HP:0012872","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal vas deferens morphology","equivalent_identifiers":["HP:0012872","UMLS:C4022697"],"information_content":90.9}
{"id":"HP:0012873","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent vas deferens","equivalent_identifiers":["HP:0012873","UMLS:C0266444","MEDDRA:10010670","SNOMEDCT:300506000","SNOMEDCT:5286009","SNOMEDCT:702610009"],"information_content":100.0}
{"id":"HP:0012877","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dry Orgasm","equivalent_identifiers":["HP:0012877","NCIT:C4698","UMLS:C0403673","MEDDRA:10038967","SNOMEDCT:50112006","MESH:D000097908"],"information_content":100.0}
{"id":"HP:0012881","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal labia majora morphology","equivalent_identifiers":["HP:0012881","UMLS:C4022695"],"information_content":83.1}
{"id":"HP:0012882","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperplastic labia majora","equivalent_identifiers":["HP:0012882","UMLS:C4021060"],"information_content":100.0}
{"id":"HP:0012886","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hemorrhagic ovarian cyst","equivalent_identifiers":["HP:0012886","UMLS:C0473311","MEDDRA:10018983","MEDDRA:10055267","MEDDRA:10060781","MEDDRA:10060783","SNOMEDCT:119420007"],"information_content":100.0}
{"id":"HP:0012887","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ovarian serous cystadenoma","equivalent_identifiers":["HP:0012887","NCIT:C4511","UMLS:C0346170","UMLS:C4020715","SNOMEDCT:119421006"],"information_content":95.4}
{"id":"HP:0012888","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal uterine cervix morphology","equivalent_identifiers":["HP:0012888","UMLS:C4022694"],"information_content":78.3}
{"id":"HP:0012890","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Posteriorly placed anus","equivalent_identifiers":["HP:0012890","UMLS:C4022693"],"information_content":100.0}
{"id":"HP:0012892","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Facial muscle hypertrophy","equivalent_identifiers":["HP:0012892","UMLS:C4022691","UMLS:C4280307"],"information_content":100.0}
{"id":"HP:0012893","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neck muscle hypertrophy","equivalent_identifiers":["HP:0012893","UMLS:C4022690","UMLS:C4280306"],"information_content":100.0}
{"id":"HP:0012894","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paraspinal muscle hypertrophy","equivalent_identifiers":["HP:0012894","UMLS:C4022689"],"information_content":100.0}
{"id":"HP:0012896","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal motor evoked potentials","equivalent_identifiers":["HP:0012896","UMLS:C4022687"],"information_content":92.8}
{"id":"HP:0012898","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal lower-limb motor evoked potentials","equivalent_identifiers":["HP:0012898","UMLS:C4021058"],"information_content":100.0}
{"id":"HP:0012899","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Handgrip myotonia","equivalent_identifiers":["HP:0012899","UMLS:C1868623"],"information_content":100.0}
{"id":"HP:0012900","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myotonia of the face","equivalent_identifiers":["HP:0012900","UMLS:C4022686"],"information_content":100.0}
{"id":"HP:0012901","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myotonia of the jaw","equivalent_identifiers":["HP:0012901","UMLS:C4022685"],"information_content":100.0}
{"id":"HP:0012902","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myotonia of the lower limb","equivalent_identifiers":["HP:0012902","UMLS:C4022684"],"information_content":100.0}
{"id":"HP:0012903","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myotonia of the upper limb","equivalent_identifiers":["HP:0012903","UMLS:C4022683"],"information_content":100.0}
{"id":"HP:0012904","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cold-sensitive myotonia","equivalent_identifiers":["HP:0012904","UMLS:C4022682"],"information_content":100.0}
{"id":"HP:0020006","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ciliary body coloboma","equivalent_identifiers":["HP:0020006","UMLS:C4072884"],"information_content":100.0}
{"id":"HP:0020035","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lower limb dysmetria","equivalent_identifiers":["HP:0020035","UMLS:C4703378"],"information_content":100.0}
{"id":"HP:0020036","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Upper limb dysmetria","equivalent_identifiers":["HP:0020036","UMLS:C3280708"],"information_content":100.0}
{"id":"HP:0020037","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Astasia","equivalent_identifiers":["HP:0020037","UMLS:C0234966","MEDDRA:10003545"],"information_content":100.0}
{"id":"HP:0020038","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vertebrobasilar dolichoectasia","equivalent_identifiers":["HP:0020038","UMLS:C0751572","MEDDRA:10071505"],"information_content":100.0}
{"id":"HP:0020041","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Double elevator palsy","equivalent_identifiers":["HP:0020041","UMLS:C0339643","SNOMEDCT:232109006","MESH:C000721287"],"information_content":100.0}
{"id":"HP:0020045","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Esodeviation","equivalent_identifiers":["HP:0020045","UMLS:C4551734"],"information_content":81.7}
{"id":"HP:0020049","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Exodeviation","equivalent_identifiers":["HP:0020049","UMLS:C4551670"],"information_content":82.6}
{"id":"HP:0020050","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anti-granulocyte-macrophage colony stimulating factor antibody positivity","equivalent_identifiers":["HP:0020050","UMLS:C4703382"],"information_content":100.0}
{"id":"HP:0020059","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased red blood cell count","equivalent_identifiers":["HP:0020059","UMLS:C0427458","MEDDRA:10037924","MEDDRA:10038154","MEDDRA:10038155","MEDDRA:10050783","SNOMEDCT:165424007"],"information_content":100.0}
{"id":"HP:0020061","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal hemoglobin concentration","equivalent_identifiers":["HP:0020061","UMLS:C4732749"],"information_content":89.4}
{"id":"HP:0020062","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Decreased hemoglobin concentration","equivalent_identifiers":["HP:0020062","UMLS:C4732750"],"information_content":100.0}
{"id":"HP:0020064","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal total eosinophil count","equivalent_identifiers":["HP:0020064","UMLS:C0853644","MEDDRA:10014942","MEDDRA:10061125"],"information_content":78.5}
{"id":"HP:0020071","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Viremia","equivalent_identifiers":["HP:0020071","UMLS:C0042749","MEDDRA:10046231","MEDDRA:10046237","MEDDRA:10047431","MEDDRA:10047434","MEDDRA:10054688","MEDDRA:10054691","MEDDRA:10058874","MEDDRA:10071362","SNOMEDCT:2528003","SNOMEDCT:770349000","MESH:D014766"],"information_content":90.9}
{"id":"HP:0020072","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Persistent EBV viremia","equivalent_identifiers":["HP:0020072","UMLS:C3554552"],"information_content":100.0}
{"id":"HP:0020073","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypopigmented macule","equivalent_identifiers":["HP:0020073","UMLS:C2047793"],"information_content":90.9}
{"id":"HP:0020074","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crystalluria","equivalent_identifiers":["HP:0020074","UMLS:C0151579","MEDDRA:10011509","MEDDRA:10046536","MEDDRA:10053114","SNOMEDCT:46784006","MESH:D000092162"],"information_content":83.6}
{"id":"HP:0020078","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alaninuria","equivalent_identifiers":["HP:0020078","UMLS:C5139067"],"information_content":100.0}
{"id":"HP:0020079","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Beta-alaninuria","equivalent_identifiers":["HP:0020079","UMLS:C5139068"],"information_content":100.0}
{"id":"HP:0020080","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Erythrocyte inclusion bodies","equivalent_identifiers":["HP:0020080"],"information_content":90.9}
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{"id":"HP:0025031","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of the digestive system","equivalent_identifiers":["HP:0025031","UMLS:C0266015","SNOMEDCT:69518005","MESH:D004065"],"information_content":45.8}
{"id":"HP:0025035","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal proerythroblast morphology","equivalent_identifiers":["HP:0025035","UMLS:C4293689"],"information_content":86.3}
{"id":"HP:0025040","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thalamic edema","equivalent_identifiers":["HP:0025040","UMLS:C4476560"],"information_content":100.0}
{"id":"HP:0025041","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thalamic calcification","equivalent_identifiers":["HP:0025041","UMLS:C4476561"],"information_content":100.0}
{"id":"HP:0025043","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Enlarged mesenteric lymph node","equivalent_identifiers":["HP:0025043","UMLS:C4476563"],"information_content":100.0}
{"id":"HP:0025045","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal brain lactate level by MRS","equivalent_identifiers":["HP:0025045","UMLS:C4476564"],"information_content":92.8}
{"id":"HP:0025051","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reduced brain creatine level by MRS","equivalent_identifiers":["HP:0025051","UMLS:C4476570"],"information_content":100.0}
{"id":"HP:0025053","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Elevated brain N-acetyl aspartate level by MRS","equivalent_identifiers":["HP:0025053","UMLS:C4476572"],"information_content":100.0}
{"id":"HP:0025058","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypothalamic atrophy","equivalent_identifiers":["HP:0025058","UMLS:C4476574"],"information_content":100.0}
{"id":"HP:0025062","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Geophagia","equivalent_identifiers":["HP:0025062","UMLS:C0232480","MEDDRA:10018202","SNOMEDCT:5917004"],"information_content":100.0}
{"id":"HP:0025064","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thalamic hemorrhage","equivalent_identifiers":["HP:0025064","UMLS:C0472376","MEDDRA:10058939","MEDDRA:10058964","MEDDRA:10071896","SNOMEDCT:230711001"],"information_content":100.0}
{"id":"HP:0025065","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal mean corpuscular volume","equivalent_identifiers":["HP:0025065","UMLS:C0853655","MEDDRA:10026977","MEDDRA:10027000","MEDDRA:10027001","MEDDRA:10027009"],"information_content":92.8}
{"id":"HP:0025066","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Microcytosis","equivalent_identifiers":["HP:0025066","UMLS:C0221265","UMLS:C0302844","UMLS:C0855790","MEDDRA:10027002","MEDDRA:10027005","MEDDRA:10027540","MEDDRA:10051858","SNOMEDCT:165455001","SNOMEDCT:165474009"],"information_content":100.0}
{"id":"HP:0025070","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal U wave","equivalent_identifiers":["HP:0025070","NCIT:C106579","UMLS:C3827674"],"information_content":90.9}
{"id":"HP:0025072","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prominent U wave","equivalent_identifiers":["HP:0025072","UMLS:C1969408"],"information_content":100.0}
{"id":"HP:0025074","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal QRS complex","equivalent_identifiers":["HP:0025074","UMLS:C4476580"],"information_content":88.2}
{"id":"HP:0025075","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased QRS voltage","equivalent_identifiers":["HP:0025075","UMLS:C1112650","MEDDRA:10057506"],"information_content":100.0}
{"id":"HP:0025077","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Decreased QRS voltage","equivalent_identifiers":["HP:0025077","NCIT:C71078","UMLS:C2349945","MEDDRA:10057505","SNOMEDCT:251146004"],"information_content":100.0}
{"id":"HP:0025080","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Orthokeratotic hyperkeratosis","equivalent_identifiers":["HP:0025080","UMLS:C3670629"],"information_content":100.0}
{"id":"HP:0025081","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Darier's sign","equivalent_identifiers":["HP:0025081","UMLS:C0878658"],"information_content":100.0}
{"id":"HP:0025082","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal cutaneous elastic fiber morphology","equivalent_identifiers":["HP:0025082","UMLS:C4476582"],"information_content":88.2}
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{"id":"HP:0025086","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bloody mucoid diarrhea","equivalent_identifiers":["HP:0025086","UMLS:C4476583"],"information_content":100.0}
{"id":"HP:0025088","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Onychomadesis","equivalent_identifiers":["HP:0025088","NCIT:C78494","UMLS:C0263540","MEDDRA:10049274","MEDDRA:10049281","MEDDRA:10091272","SNOMEDCT:22743000"],"information_content":95.4}
{"id":"HP:0025090","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal large intestinal mucosa morphology","equivalent_identifiers":["HP:0025090","UMLS:C4476585"],"information_content":95.4}
{"id":"HP:0025092","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acanthosis","equivalent_identifiers":["HP:0025092","NCIT:C35265","NCIT:C53296","UMLS:C0221270","UMLS:C0263641","MEDDRA:10000349","SNOMEDCT:23620008","SNOMEDCT:75307004"],"information_content":72.1}
{"id":"HP:0025096","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paroxysmal sneezing","equivalent_identifiers":["HP:0025096","UMLS:C0858634","MEDDRA:10034043"],"information_content":100.0}
{"id":"HP:0025097","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eyelid myoclonus","equivalent_identifiers":["HP:0025097","UMLS:C0751349","MEDDRA:10076060"],"information_content":100.0}
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{"id":"HP:0025100","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal hippocampus morphology","equivalent_identifiers":["HP:0025100","UMLS:C4476590"],"information_content":81.7}
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{"id":"HP:0025103","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Umbilicated nodule","equivalent_identifiers":["HP:0025103","UMLS:C4476593"],"information_content":100.0}
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{"id":"HP:0025112","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Auditory sensitivity","equivalent_identifiers":["HP:0025112","UMLS:C5848378"],"information_content":100.0}
{"id":"HP:0025114","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypergranulosis","equivalent_identifiers":["HP:0025114","UMLS:C3279547"],"information_content":100.0}
{"id":"HP:0025115","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Civatte bodies","equivalent_identifiers":["HP:0025115"],"information_content":100.0}
{"id":"HP:0025116","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fetal distress","equivalent_identifiers":["HP:0025116","NCIT:C50563","UMLS:C0015930","MEDDRA:10016486","MEDDRA:10016492","MEDDRA:10016854","MEDDRA:10016855","MEDDRA:10042806","MEDDRA:10055709","SNOMEDCT:130955003","MESH:D005316"],"information_content":100.0}
{"id":"HP:0025118","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lip discoloration","equivalent_identifiers":["HP:0025118","UMLS:C0854373","MEDDRA:10024548","MEDDRA:10024549","MEDDRA:10055531","MEDDRA:10055532"],"information_content":95.4}
{"id":"HP:0025124","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fragile teeth","equivalent_identifiers":["HP:0025124","UMLS:C2674620"],"information_content":100.0}
{"id":"HP:0025128","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reduced intraabdominal adipose tissue","equivalent_identifiers":["HP:0025128","UMLS:C4476602"],"information_content":100.0}
{"id":"HP:0025129","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal small intestinal mucosa morphology","equivalent_identifiers":["HP:0025129","UMLS:C4476603"],"information_content":81.3}
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{"id":"HP:0025131","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Finger swelling","equivalent_identifiers":["HP:0025131","UMLS:C0239598","MEDDRA:10042694","SNOMEDCT:299060006"],"information_content":100.0}
{"id":"HP:0025132","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal circulating estrogen level","equivalent_identifiers":["HP:0025132","UMLS:C4476605"],"information_content":84.2}
{"id":"HP:0025133","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal serum estradiol","equivalent_identifiers":["HP:0025133","UMLS:C0857963","MEDDRA:10040350","MEDDRA:10054622"],"information_content":92.8}
{"id":"HP:0025134","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased serum estradiol","equivalent_identifiers":["HP:0025134","UMLS:C1295643","SNOMEDCT:131065003"],"information_content":100.0}
{"id":"HP:0025142","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Constitutional symptom","equivalent_identifiers":["HP:0025142","NCIT:C38469","UMLS:C0009812"],"information_content":57.2}
{"id":"HP:0025143","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chills","equivalent_identifiers":["HP:0025143","NCIT:C35143","UMLS:C0085593","MEDDRA:10008531","MESH:D023341"],"information_content":76.5}
{"id":"HP:0025144","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shivering","equivalent_identifiers":["HP:0025144","NCIT:C35015","UMLS:C0036973","MEDDRA:10040558","MEDDRA:10040559","SNOMEDCT:248456009","SNOMEDCT:43724002","MESH:D012768"],"information_content":95.4}
{"id":"HP:0025145","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rigors","equivalent_identifiers":["HP:0025145","NCIT:C111658","UMLS:C0424790","MEDDRA:10039176","MEDDRA:10039177","MEDDRA:10076336","MEDDRA:10076459","SNOMEDCT:38880002"],"information_content":100.0}
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{"id":"HP:0025148","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dark choroid","equivalent_identifiers":["HP:0025148","UMLS:C4476615"],"information_content":100.0}
{"id":"HP:0025149","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Atrophic muscularis propria","equivalent_identifiers":["HP:0025149","UMLS:C4476616","UMLS:C4476617","UMLS:C4476618"],"information_content":100.0}
{"id":"HP:0025151","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ganglioneuromatosis","equivalent_identifiers":["HP:0025151","NCIT:C66804","UMLS:C0334595","SNOMEDCT:12060004"],"information_content":100.0}
{"id":"HP:0025152","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Poor visual behavior for age","equivalent_identifiers":["HP:0025152","UMLS:C4476619"],"information_content":100.0}
{"id":"HP:0025155","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal hepatobiliary system physiology","equivalent_identifiers":["HP:0025155","UMLS:C4476621"],"information_content":72.4}
{"id":"HP:0025156","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dependency on intravenous nutrition","equivalent_identifiers":["HP:0025156","UMLS:C4476622"],"information_content":100.0}
{"id":"HP:0025157","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased urinary sedoheptulose","equivalent_identifiers":["HP:0025157","UMLS:C4313432"],"information_content":100.0}
{"id":"HP:0025158","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperautofluorescent retinal lesion","equivalent_identifiers":["HP:0025158","UMLS:C4476623","UMLS:C5936774"],"information_content":95.4}
{"id":"HP:0025159","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoautofluorescent retinal lesion","equivalent_identifiers":["HP:0025159","UMLS:C4476624"],"information_content":92.8}
{"id":"HP:0025160","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal temper tantrums","equivalent_identifiers":["HP:0025160","UMLS:C4476625"],"information_content":92.8}
{"id":"HP:0025161","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Frequent temper tantrums","equivalent_identifiers":["HP:0025161","UMLS:C4476626"],"information_content":100.0}
{"id":"HP:0025162","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Severe temper tantrums","equivalent_identifiers":["HP:0025162","UMLS:C4476627"],"information_content":100.0}
{"id":"HP:0025163","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal optic chiasm morphology","equivalent_identifiers":["HP:0025163","UMLS:C4476628"],"information_content":80.2}
{"id":"HP:0025164","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased number of elastic fibers in the dermis","equivalent_identifiers":["HP:0025164","UMLS:C4476629"],"information_content":100.0}
{"id":"HP:0025167","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fragmented elastic fibers in the dermis","equivalent_identifiers":["HP:0025167","UMLS:C4476632"],"information_content":100.0}
{"id":"HP:0025168","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Left ventricular diastolic dysfunction","equivalent_identifiers":["HP:0025168","UMLS:C1273070","MEDDRA:10074568","SNOMEDCT:395704004"],"information_content":100.0}
{"id":"HP:0025169","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Left ventricular systolic dysfunction","equivalent_identifiers":["HP:0025169","NCIT:C64251","UMLS:C1277187","MEDDRA:10069501","SNOMEDCT:134401001"],"information_content":87.2}
{"id":"HP:0025174","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Irregular septal thickening on pulmonary HRCT","equivalent_identifiers":["HP:0025174","UMLS:C4476635"],"information_content":100.0}
{"id":"HP:0025175","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Honeycomb lung","equivalent_identifiers":["HP:0025175","UMLS:C0241984"],"information_content":100.0}
{"id":"HP:0025177","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Peribronchovascular interstitial thickening","equivalent_identifiers":["HP:0025177","UMLS:C4476637"],"information_content":100.0}
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{"id":"HP:0030307","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Flared lower limb metaphysis","equivalent_identifiers":["HP:0030307","UMLS:C4022520"],"information_content":89.4}
{"id":"HP:0030311","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lower extremity joint dislocation","equivalent_identifiers":["HP:0030311","UMLS:C4022516"],"information_content":83.6}
{"id":"HP:0030312","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Obliteration of the calvarial diploe","equivalent_identifiers":["HP:0030312","UMLS:C1860855"],"information_content":100.0}
{"id":"HP:0030313","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal periosteum morphology","equivalent_identifiers":["HP:0030313","UMLS:C4022515"],"information_content":82.1}
{"id":"HP:0030314","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Periostosis","equivalent_identifiers":["HP:0030314","UMLS:C1409412","MEDDRA:10077565"],"information_content":92.8}
{"id":"HP:0030319","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weakness of facial musculature","equivalent_identifiers":["HP:0030319","UMLS:C4022514"],"information_content":82.6}
{"id":"HP:0030320","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased intervertebral space","equivalent_identifiers":["HP:0030320","UMLS:C4022513"],"information_content":100.0}
{"id":"HP:0030321","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal vertebral artery morphology","equivalent_identifiers":["HP:0030321","UMLS:C4022512"],"information_content":86.3}
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{"id":"HP:0030325","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cervicomedullary schisis","equivalent_identifiers":["HP:0030325","UMLS:C4022510"],"information_content":100.0}
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{"id":"HP:0030412","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ileal adenocarcinoma","equivalent_identifiers":["HP:0030412","UMLS:C4072936"],"information_content":100.0}
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{"id":"HP:0030431","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Osteochondroma","equivalent_identifiers":["HP:0030431","EFO:1000411","NCIT:C3295","UMLS:C0029423","MEDDRA:10059587","MEDDRA:10086259","SNOMEDCT:307573009","SNOMEDCT:443093007","SNOMEDCT:52299001","MESH:D015831"],"information_content":81.7}
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{"id":"HP:0030468","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal multifocal electroretinogram","equivalent_identifiers":["HP:0030468","UMLS:C4072958"],"information_content":92.8}
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{"id":"HP:0030718","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Right atrial enlargement","equivalent_identifiers":["HP:0030718","UMLS:C0344709","UMLS:C0748427","MEDDRA:10058227","MEDDRA:10067282","SNOMEDCT:67751000119106"],"information_content":89.4}
{"id":"HP:0030720","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Subchorionic septal cyst","equivalent_identifiers":["HP:0030720","UMLS:C4280801"],"information_content":100.0}
{"id":"HP:0030721","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tetraphocomelia","equivalent_identifiers":["HP:0030721","UMLS:C1849370"],"information_content":100.0}
{"id":"HP:0030732","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dysplastic tricuspid valve","equivalent_identifiers":["HP:0030732","UMLS:C4255215","SNOMEDCT:762254000"],"information_content":100.0}
{"id":"HP:0030735","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ureterovesical junction obstruction","equivalent_identifiers":["HP:0030735","UMLS:C2609249","MEDDRA:10068806","SNOMEDCT:1259363003"],"information_content":95.4}
{"id":"HP:0030743","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glial remnants anterior to the optic disc","equivalent_identifiers":["HP:0030743","UMLS:C4280791","MEDDRA:10081443"],"information_content":100.0}
{"id":"HP:0030744","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyaloid vascular remnant and retrolental mass","equivalent_identifiers":["HP:0030744","UMLS:C4280790"],"information_content":100.0}
{"id":"HP:0030745","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dilatation of the ductus arteriosus","equivalent_identifiers":["HP:0030745","UMLS:C0398357","UMLS:C4476845","SNOMEDCT:233990006"],"information_content":100.0}
{"id":"HP:0030746","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Intraventricular hemorrhage","equivalent_identifiers":["HP:0030746","NCIT:C50896","UMLS:C0240059","MEDDRA:10022840","MEDDRA:10022842","MEDDRA:10055299","MEDDRA:10071830","SNOMEDCT:23276006"],"information_content":85.5}
{"id":"HP:0030756","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Erythrodontia","equivalent_identifiers":["HP:0030756","UMLS:C4280783"],"information_content":100.0}
{"id":"HP:0030758","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Periapical tooth abscess","equivalent_identifiers":["HP:0030758","UMLS:C4280782"],"information_content":100.0}
{"id":"HP:0030765","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sleep terror","equivalent_identifiers":["HP:0030765","NCIT:C117287","NCIT:C95077","UMLS:C0037320","MEDDRA:10029411","MEDDRA:10041010","SNOMEDCT:89675003","MESH:D020184"],"information_content":100.0}
{"id":"HP:0030766","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ear pain","equivalent_identifiers":["HP:0030766","NCIT:C37944","UMLS:C0013456","MEDDRA:10013992","MEDDRA:10014020","MEDDRA:10014037","MEDDRA:10031304","MEDDRA:10031305","MEDDRA:10033393","MEDDRA:10033423","SNOMEDCT:16001004","SNOMEDCT:162356005","SNOMEDCT:301354004","MESH:D004433"],"information_content":95.4}
{"id":"HP:0030769","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Exencephaly","equivalent_identifiers":["HP:0030769","NCIT:C124531","UMLS:C0266453","MEDDRA:10015633","SNOMEDCT:84461004"],"information_content":100.0}
{"id":"HP:0030771","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mallet finger","equivalent_identifiers":["HP:0030771","UMLS:C0158473","MEDDRA:10026710","SNOMEDCT:64298006"],"information_content":100.0}
{"id":"HP:0030774","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mitochondrial swelling","equivalent_identifiers":["HP:0030774","UMLS:C0026244","SNOMEDCT:125429001","MESH:D008933"],"information_content":100.0}
{"id":"HP:0030779","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ethmocephaly","equivalent_identifiers":["HP:0030779","NCIT:C124529","UMLS:C0266680","SNOMEDCT:55709000"],"information_content":100.0}
{"id":"HP:0030781","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased circulating free fatty acid level","equivalent_identifiers":["HP:0030781","UMLS:C4280773"],"information_content":100.0}
{"id":"HP:0030783","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased circulating interleukin 6 concentration","equivalent_identifiers":["HP:0030783","UMLS:C4280771"],"information_content":100.0}
{"id":"HP:0030786","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Photopsia","equivalent_identifiers":["HP:0030786","UMLS:C0085635","MEDDRA:10016757","MEDDRA:10034962","MEDDRA:10047569","SNOMEDCT:56170001","MESH:C000726607"],"information_content":100.0}
{"id":"HP:0030788","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Impacted cerumen","equivalent_identifiers":["HP:0030788","UMLS:C0021092","UMLS:C0259769","MEDDRA:10021511","MEDDRA:10021513","MEDDRA:10050337","SNOMEDCT:18070006"],"information_content":100.0}
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{"id":"HP:0030793","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jaw swelling","equivalent_identifiers":["HP:0030793","UMLS:C4280766","MEDDRA:10085235"],"information_content":100.0}
{"id":"HP:0030794","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal circulating C-peptide concentration","equivalent_identifiers":["HP:0030794","UMLS:C4280765"],"information_content":92.8}
{"id":"HP:0030795","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reduced C-peptide level","equivalent_identifiers":["HP:0030795","UMLS:C4280764"],"information_content":100.0}
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{"id":"HP:0030797","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reduced volume of central subdivision of bed nucleus of stria terminalis","equivalent_identifiers":["HP:0030797","UMLS:C4280762"],"information_content":100.0}
{"id":"HP:0030799","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scaphocephaly","equivalent_identifiers":["HP:0030799","UMLS:C0265534","MEDDRA:10049426","SNOMEDCT:4191007"],"information_content":100.0}
{"id":"HP:0030800","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal visual accommodation","equivalent_identifiers":["HP:0030800","UMLS:C4280760"],"information_content":95.4}
{"id":"HP:0030802","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lower eyelid retraction","equivalent_identifiers":["HP:0030802","UMLS:C0578686","UMLS:C1861656","SNOMEDCT:302015009","SNOMEDCT:700264006"],"information_content":100.0}
{"id":"HP:0030803","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Platonychia","equivalent_identifiers":["HP:0030803","UMLS:C1853986","MEDDRA:10072590"],"information_content":100.0}
{"id":"HP:0030804","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Trachyonychia","equivalent_identifiers":["HP:0030804","UMLS:C0546956","MEDDRA:10082641","SNOMEDCT:69192004"],"information_content":100.0}
{"id":"HP:0030805","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent lunula","equivalent_identifiers":["HP:0030805","UMLS:C4280758"],"information_content":100.0}
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{"id":"HP:0030810","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal tongue physiology","equivalent_identifiers":["HP:0030810","UMLS:C4280754"],"information_content":83.1}
{"id":"HP:0030812","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Enlarged tonsils","equivalent_identifiers":["HP:0030812","UMLS:C0272386","MEDDRA:10044003","SNOMEDCT:46689006"],"information_content":95.4}
{"id":"HP:0030813","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent tonsils","equivalent_identifiers":["HP:0030813","UMLS:C0576999","SNOMEDCT:249393008","SNOMEDCT:300277007"],"information_content":100.0}
{"id":"HP:0030814","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Orange discolored tonsils","equivalent_identifiers":["HP:0030814","UMLS:C4280753"],"information_content":100.0}
{"id":"HP:0030820","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hooded eyelid","equivalent_identifiers":["HP:0030820","UMLS:C3277348"],"information_content":92.8}
{"id":"HP:0030822","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hooded upper eyelid","equivalent_identifiers":["HP:0030822","UMLS:C4280749"],"information_content":100.0}
{"id":"HP:0030823","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scleral thickening","equivalent_identifiers":["HP:0030823","UMLS:C2674403"],"information_content":100.0}
{"id":"HP:0030824","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mizuo phenomenon","equivalent_identifiers":["HP:0030824","UMLS:C4280748"],"information_content":90.9}
{"id":"HP:0030825","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent foveal reflex","equivalent_identifiers":["HP:0030825","UMLS:C0423420","SNOMEDCT:247144003"],"information_content":100.0}
{"id":"HP:0030826","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eyelid fasciculation","equivalent_identifiers":["HP:0030826","UMLS:C4280682"],"information_content":100.0}
{"id":"HP:0030828","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wheezing","equivalent_identifiers":["HP:0030828","EFO:0009715","NCIT:C78718","UMLS:C0043144","UMLS:C0392681","MEDDRA:10047921","MEDDRA:10047923","MEDDRA:10047924","MEDDRA:10047927","MEDDRA:10049200","SNOMEDCT:272040008","SNOMEDCT:56018004"],"information_content":70.9}
{"id":"HP:0030829","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal breath sound","equivalent_identifiers":["HP:0030829","UMLS:C0231856","MEDDRA:10064780","SNOMEDCT:301273002"],"information_content":69.7}
{"id":"HP:0030830","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crackles","equivalent_identifiers":["HP:0030830","NCIT:C119216","UMLS:C0034642","MEDDRA:10011283","MEDDRA:10011376","MEDDRA:10037832","MEDDRA:10037833","MEDDRA:10049154","MEDDRA:10050052","MEDDRA:10054910","SNOMEDCT:48409008"],"information_content":89.4}
{"id":"HP:0030831","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rhonchi","equivalent_identifiers":["HP:0030831","NCIT:C87116","UMLS:C0035508","MEDDRA:10039109","MEDDRA:10039110","SNOMEDCT:24612001"],"information_content":100.0}
{"id":"HP:0030833","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neck pain","equivalent_identifiers":["HP:0030833","NCIT:C50663","UMLS:C0007859","MEDDRA:10008296","MEDDRA:10008322","MEDDRA:10028836","MEDDRA:10033467","MEDDRA:10049860","MEDDRA:10087882","SNOMEDCT:81680005","MESH:D019547"],"information_content":100.0}
{"id":"HP:0030834","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shoulder pain","equivalent_identifiers":["HP:0030834","NCIT:C35022","UMLS:C0037011","MEDDRA:10040617","SNOMEDCT:45326000","MESH:D020069"],"information_content":89.4}
{"id":"HP:0030835","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Elbow pain","equivalent_identifiers":["HP:0030835","UMLS:C0239266","MEDDRA:10033424","SNOMEDCT:74323005"],"information_content":89.4}
{"id":"HP:0030836","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wrist pain","equivalent_identifiers":["HP:0030836","UMLS:C0221785","UMLS:C5970507","MEDDRA:10000430","MEDDRA:10048692","SNOMEDCT:202482009","SNOMEDCT:56608008"],"information_content":95.4}
{"id":"HP:0030838","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hip pain","equivalent_identifiers":["HP:0030838","NCIT:C34699","UMLS:C4551516","MEDDRA:10011249","MEDDRA:10033432","MEDDRA:10033509","SNOMEDCT:49218002"],"information_content":95.4}
{"id":"HP:0030839","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Knee pain","equivalent_identifiers":["HP:0030839","UMLS:C0231749","UMLS:C4476846","MEDDRA:10000447","MEDDRA:10023477","MEDDRA:10033445","MEDDRA:10033458","MEDDRA:10033512","MEDDRA:10064238","SNOMEDCT:1003721002","SNOMEDCT:1003722009","SNOMEDCT:30989003"],"information_content":88.2}
{"id":"HP:0030840","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ankle pain","equivalent_identifiers":["HP:0030840","UMLS:C0238656","MEDDRA:10033379","MEDDRA:10033420","MEDDRA:10033501","SNOMEDCT:202490009","SNOMEDCT:247373008"],"information_content":100.0}
{"id":"HP:0030842","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Choking episodes","equivalent_identifiers":["HP:0030842","UMLS:C4280747"],"information_content":100.0}
{"id":"HP:0030843","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cardiac amyloidosis","equivalent_identifiers":["HP:0030843","EFO:1001984","NCIT:C153217","UMLS:C0268407","MEDDRA:10002020","MEDDRA:10007509","SNOMEDCT:16573007"],"information_content":92.8}
{"id":"HP:0030844","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Undetectable pattern electroretinogram","equivalent_identifiers":["HP:0030844","UMLS:C4280746"],"information_content":100.0}
{"id":"HP:0030846","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormality of venous physiology","equivalent_identifiers":["HP:0030846","UMLS:C4280744"],"information_content":79.3}
{"id":"HP:0030848","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Elevated jugular venous pressure","equivalent_identifiers":["HP:0030848","NCIT:C119206","UMLS:C0520861","MEDDRA:10020079","MEDDRA:10023240","MEDDRA:10023242","MEDDRA:10037820","MEDDRA:10047240","SNOMEDCT:22447003"],"information_content":100.0}
{"id":"HP:0030849","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hepatojugular reflux","equivalent_identifiers":["HP:0030849","UMLS:C0239949","MEDDRA:10051448","SNOMEDCT:72196001"],"information_content":100.0}
{"id":"HP:0030850","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal pulse pressure","equivalent_identifiers":["HP:0030850","UMLS:C0855322","MEDDRA:10037478","MEDDRA:10037479"],"information_content":83.1}
{"id":"HP:0030851","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Low pulse pressure","equivalent_identifiers":["HP:0030851","UMLS:C4280743"],"information_content":100.0}
{"id":"HP:0030854","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scleral staphyloma","equivalent_identifiers":["HP:0030854","UMLS:C0155359","MEDDRA:10041951","SNOMEDCT:111534007"],"information_content":92.8}
{"id":"HP:0030857","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eye movement-induced pain","equivalent_identifiers":["HP:0030857","UMLS:C4280742"],"information_content":100.0}
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{"id":"HP:0031291","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ichthyosis follicularis","equivalent_identifiers":["HP:0031291","UMLS:C4531223"],"information_content":100.0}
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{"id":"HP:0031304","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Iliac arterial calcification","equivalent_identifiers":["HP:0031304","UMLS:C4531214"],"information_content":100.0}
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{"id":"HP:0031434","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal prosody","equivalent_identifiers":["HP:0031434","UMLS:C5826362"],"information_content":85.5}
{"id":"HP:0031435","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Monotonic speech","equivalent_identifiers":["HP:0031435","UMLS:C4531121"],"information_content":100.0}
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{"id":"HP:0031447","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Penile freckling","equivalent_identifiers":["HP:0031447","UMLS:C4531112"],"information_content":100.0}
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{"id":"HP:0031452","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lichenoid skin lesion","equivalent_identifiers":["HP:0031452","UMLS:C4531107"],"information_content":100.0}
{"id":"HP:0031454","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Apocrine hidrocystoma","equivalent_identifiers":["HP:0031454","NCIT:C43342","UMLS:C5848312","SNOMEDCT:1296890008","SNOMEDCT:1296969001"],"information_content":100.0}
{"id":"HP:0031457","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pulmonary opacity","equivalent_identifiers":["HP:0031457","UMLS:C4531104"],"information_content":84.8}
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{"id":"HP:0031491","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Continuous spike and waves during slow sleep","equivalent_identifiers":["HP:0031491","UMLS:C3806403"],"information_content":100.0}
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{"id":"HP:0031506","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased circulating T4 concentration","equivalent_identifiers":["HP:0031506","UMLS:C4531079"],"information_content":100.0}
{"id":"HP:0031507","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Decreased circulating T4 concentration","equivalent_identifiers":["HP:0031507","UMLS:C4531078"],"information_content":100.0}
{"id":"HP:0031508","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal circulating thyroid hormone concentration","equivalent_identifiers":["HP:0031508","UMLS:C4531077"],"information_content":79.3}
{"id":"HP:0031510","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Linear earlobe crease","equivalent_identifiers":["HP:0031510","UMLS:C4531075"],"information_content":100.0}
{"id":"HP:0031512","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal cutaneous collagen fibril morphology","equivalent_identifiers":["HP:0031512","UMLS:C4531073"],"information_content":86.3}
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{"id":"HP:0031539","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Linear IgA deposits along the epidermal basement membrane zone","equivalent_identifiers":["HP:0031539","UMLS:C4531057"],"information_content":100.0}
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{"id":"HP:0031606","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinal cotton wool spot","equivalent_identifiers":["HP:0031606"],"information_content":95.4}
{"id":"HP:0031609","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Geographic atrophy","equivalent_identifiers":["HP:0031609","EFO:1001492","UMLS:C1536085","MEDDRA:10063947","MEDDRA:10067792","MESH:D057092"],"information_content":100.0}
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{"id":"HP:0031618","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anterior chamber flare grade 1+","equivalent_identifiers":["HP:0031618","UMLS:C4703443"],"information_content":100.0}
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{"id":"HP:0031653","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal heart valve physiology","equivalent_identifiers":["HP:0031653","UMLS:C4703465"],"information_content":73.1}
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{"id":"HP:0031865","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal liver physiology","equivalent_identifiers":["HP:0031865","UMLS:C4703582"],"information_content":89.4}
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{"id":"HP:0034011","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reduced progressive sperm motility","equivalent_identifiers":["HP:0034011","UMLS:C5436680"],"information_content":100.0}
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{"id":"HP:0034029","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hepatic foam cells","equivalent_identifiers":["HP:0034029","UMLS:C5558397"],"information_content":100.0}
{"id":"HP:0034032","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Central cyanosis","equivalent_identifiers":["HP:0034032","UMLS:C0521800","MEDDRA:10011704","SNOMEDCT:95837007"],"information_content":100.0}
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{"id":"HP:0040132","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal sensory nerve conduction velocity","equivalent_identifiers":["HP:0040132","UMLS:C4022421"],"information_content":95.4}
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{"id":"HP:0040134","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal hepatic iron concentration","equivalent_identifiers":["HP:0040134","UMLS:C4022420","MEDDRA:10074352"],"information_content":88.2}
{"id":"HP:0040135","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal transferrin saturation","equivalent_identifiers":["HP:0040135","UMLS:C4022419","MEDDRA:10079855"],"information_content":92.8}
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{"id":"HP:0100673","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vaginal hydrocele","equivalent_identifiers":["HP:0100673"],"information_content":100.0}
{"id":"HP:0100674","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vaginal hematocele","equivalent_identifiers":["HP:0100674","UMLS:C1456401"],"information_content":100.0}
{"id":"HP:0100678","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin Wrinkling","equivalent_identifiers":["HP:0100678","NCIT:C50435","UMLS:C0037301","MEDDRA:10040954","MEDDRA:10048042","MEDDRA:10048043","MEDDRA:10085737","SNOMEDCT:247434009"],"information_content":85.5}
{"id":"HP:0100679","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stretched skin","equivalent_identifiers":["HP:0100679","UMLS:C0558242","UMLS:C4021998","SNOMEDCT:297957009"],"information_content":95.4}
{"id":"HP:0100682","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tracheal atresia","equivalent_identifiers":["HP:0100682","NCIT:C35754","UMLS:C0265766","MEDDRA:10054955","SNOMEDCT:53189005"],"information_content":100.0}
{"id":"HP:0100689","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Decreased corneal thickness","equivalent_identifiers":["HP:0100689","NCIT:C187287","UMLS:C1096274","MEDDRA:10054760","SNOMEDCT:423459005"],"information_content":88.2}
{"id":"HP:0100692","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased corneal curvature","equivalent_identifiers":["HP:0100692","UMLS:C4020956"],"information_content":92.8}
{"id":"HP:0100693","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Iridodonesis","equivalent_identifiers":["HP:0100693","UMLS:C0423320","MEDDRA:10058357","SNOMEDCT:118166004"],"information_content":100.0}
{"id":"HP:0100694","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tibial torsion","equivalent_identifiers":["HP:0100694","UMLS:C0426900","MEDDRA:10064515","SNOMEDCT:249785006"],"information_content":92.8}
{"id":"HP:0100698","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Subcutaneous neurofibroma","equivalent_identifiers":["HP:0100698","UMLS:C1827970","SNOMEDCT:425327002"],"information_content":100.0}
{"id":"HP:0100703","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tongue thrusting","equivalent_identifiers":["HP:0100703","UMLS:C1829460","MEDDRA:10082545","SNOMEDCT:110343009","SNOMEDCT:424583005"],"information_content":100.0}
{"id":"HP:0100704","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cerebral visual impairment","equivalent_identifiers":["HP:0100704","NCIT:C118710","UMLS:C3810365","UMLS:C4048268","MEDDRA:10076660","SNOMEDCT:413924001","SNOMEDCT:432141000124105"],"information_content":100.0}
{"id":"HP:0100706","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal oligodendroglia morphology","equivalent_identifiers":["HP:0100706","UMLS:C4021992"],"information_content":88.2}
{"id":"HP:0100707","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal astrocyte morphology","equivalent_identifiers":["HP:0100707","UMLS:C4021991"],"information_content":81.3}
{"id":"HP:0100709","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reduction of oligodendroglia","equivalent_identifiers":["HP:0100709","UMLS:C4021852"],"information_content":100.0}
{"id":"HP:0100710","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Impulsivity","equivalent_identifiers":["HP:0100710","NCIT:C93213","UMLS:C0021125","MEDDRA:10021567","MEDDRA:10021568","MEDDRA:10060909","MESH:D007175"],"information_content":100.0}
{"id":"HP:0100711","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal thoracic spine morphology","equivalent_identifiers":["HP:0100711","UMLS:C4021989"],"information_content":80.9}
{"id":"HP:0100712","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal lumbar spine morphology","equivalent_identifiers":["HP:0100712","UMLS:C4021988"],"information_content":78.3}
{"id":"HP:0100716","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Self-injurious behavior","equivalent_identifiers":["HP:0100716","UMLS:C0085271","SNOMEDCT:248062006"],"information_content":82.1}
{"id":"HP:0100717","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal cementum morphology","equivalent_identifiers":["HP:0100717","UMLS:C4021987"],"information_content":80.6}
{"id":"HP:0100718","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Uterine rupture","equivalent_identifiers":["HP:0100718","NCIT:C128716","UMLS:C0042143","MEDDRA:10039327","MEDDRA:10039335","MEDDRA:10046820","MEDDRA:10046845","MEDDRA:10046846","SNOMEDCT:34430009","MESH:D014597"],"information_content":100.0}
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{"id":"HP:0100721","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mediastinal lymphadenopathy","equivalent_identifiers":["HP:0100721","UMLS:C0520743","MEDDRA:10025205","MEDDRA:10027075","SNOMEDCT:52324001"],"information_content":100.0}
{"id":"HP:0100725","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lichenification","equivalent_identifiers":["HP:0100725","NCIT:C111974","UMLS:C0023653","MEDDRA:10024438","SNOMEDCT:19940005","SNOMEDCT:402237006"],"information_content":95.4}
{"id":"HP:0100728","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Germ cell neoplasia","equivalent_identifiers":["HP:0100728","UMLS:C4021985"],"information_content":78.5}
{"id":"HP:0100729","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Large face","equivalent_identifiers":["HP:0100729","UMLS:C2748652"],"information_content":88.2}
{"id":"HP:0100731","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Transverse facial cleft","equivalent_identifiers":["HP:0100731","UMLS:C4020954"],"information_content":90.9}
{"id":"HP:0100732","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pancreatic fibrosis","equivalent_identifiers":["HP:0100732","UMLS:C0267952","MEDDRA:10074857","SNOMEDCT:25942009"],"information_content":100.0}
{"id":"HP:0100734","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal vertebral epiphysis morphology","equivalent_identifiers":["HP:0100734","UMLS:C4020953"],"information_content":100.0}
{"id":"HP:0100735","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypertensive crisis","equivalent_identifiers":["HP:0100735","NCIT:C3122","UMLS:C0020546","MEDDRA:10011395","MEDDRA:10020802","SNOMEDCT:706882009","MESH:D000096003"],"information_content":90.9}
{"id":"HP:0100736","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal soft palate morphology","equivalent_identifiers":["HP:0100736","UMLS:C4021984"],"information_content":78.3}
{"id":"HP:0100737","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal hard palate morphology","equivalent_identifiers":["HP:0100737","UMLS:C4021983"],"information_content":84.8}
{"id":"HP:0100738","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal eating behavior","equivalent_identifiers":["HP:0100738","UMLS:C4021982"],"information_content":73.3}
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{"id":"HP:0100748","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Muscular edema","equivalent_identifiers":["HP:0100748","UMLS:C4021979"],"information_content":100.0}
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{"id":"HP:0100750","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Atelectasis","equivalent_identifiers":["HP:0100750","NCIT:C2888","UMLS:C0004144","MEDDRA:10003598","MEDDRA:10009913","MEDDRA:10024737","MEDDRA:10037360","SNOMEDCT:46621007","MESH:D001261"],"information_content":92.8}
{"id":"HP:0100752","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal liver lobulation","equivalent_identifiers":["HP:0100752","UMLS:C0345286","SNOMEDCT:253811003"],"information_content":100.0}
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{"id":"HP:0100758","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gangrene","equivalent_identifiers":["HP:0100758","EFO:0008574","NCIT:C50573","UMLS:C0017086","MEDDRA:10017711","MEDDRA:10017718","SNOMEDCT:36024000","SNOMEDCT:372070002","MESH:D005734"],"information_content":100.0}
{"id":"HP:0100759","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Clubbed Fingers","equivalent_identifiers":["HP:0100759","NCIT:C34491","UMLS:C0009080","MEDDRA:10009692","MEDDRA:10016680","MEDDRA:10090112","SNOMEDCT:30760008"],"information_content":100.0}
{"id":"HP:0100760","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Clubbing of toes","equivalent_identifiers":["HP:0100760","UMLS:C3887489","MEDDRA:10052071","SNOMEDCT:53148007"],"information_content":100.0}
{"id":"HP:0100761","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Visceral angiomatosis","equivalent_identifiers":["HP:0100761","UMLS:C4021977"],"information_content":100.0}
{"id":"HP:0100762","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hemobilia","equivalent_identifiers":["HP:0100762","UMLS:C0018994","MEDDRA:10058947","MEDDRA:10058962","SNOMEDCT:66556007","MESH:D006431"],"information_content":100.0}
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{"id":"HP:0100766","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal lymphatic vessel morphology","equivalent_identifiers":["HP:0100766","UMLS:C4021974"],"information_content":80.2}
{"id":"HP:0100767","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal placenta morphology","equivalent_identifiers":["HP:0100767","UMLS:C0266746","UMLS:C1306893","SNOMEDCT:169957005","SNOMEDCT:33552005"],"information_content":69.2}
{"id":"HP:0100771","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoperistalsis","equivalent_identifiers":["HP:0100771","UMLS:C0232475","UMLS:C4020700","SNOMEDCT:77853002"],"information_content":92.8}
{"id":"HP:0100773","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cartilage destruction","equivalent_identifiers":["HP:0100773","UMLS:C4021973"],"information_content":100.0}
{"id":"HP:0100775","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dural ectasia","equivalent_identifiers":["HP:0100775","UMLS:C1851712","MEDDRA:10089442"],"information_content":100.0}
{"id":"HP:0100776","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Recurrent pharyngitis","equivalent_identifiers":["HP:0100776","UMLS:C0747556"],"information_content":100.0}
{"id":"HP:0100779","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urogenital sinus anomaly","equivalent_identifiers":["HP:0100779","UMLS:C4021972"],"information_content":100.0}
{"id":"HP:0100780","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Conjunctival hamartoma","equivalent_identifiers":["HP:0100780","UMLS:C4021849"],"information_content":100.0}
{"id":"HP:0100781","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal sacroiliac joint morphology","equivalent_identifiers":["HP:0100781","UMLS:C0262621"],"information_content":89.4}
{"id":"HP:0100783","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Breast aplasia","equivalent_identifiers":["HP:0100783","UMLS:C0266009","UMLS:C5967362","SNOMEDCT:111324004","SNOMEDCT:1144551004"],"information_content":100.0}
{"id":"HP:0100784","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Peripheral arteriovenous fistula","equivalent_identifiers":["HP:0100784","UMLS:C4021971"],"information_content":100.0}
{"id":"HP:0100789","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Torus palatinus","equivalent_identifiers":["HP:0100789","UMLS:C0266981","UMLS:C0447996","UMLS:C1840236","MEDDRA:10052508","SNOMEDCT:244683008","SNOMEDCT:46752004","SNOMEDCT:697945009"],"information_content":100.0}
{"id":"HP:0100790","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hernia","equivalent_identifiers":["HP:0100790","EFO:0020006","NCIT:C34685","UMLS:C0019270","UMLS:C0178282","UMLS:C0205792","MEDDRA:10000068","MEDDRA:10000074","MEDDRA:10014884","MEDDRA:10019909","MEDDRA:10019918","MEDDRA:10036371","MEDDRA:10051989","MEDDRA:10060954","SNOMEDCT:30477007","SNOMEDCT:398061002","SNOMEDCT:414403008","SNOMEDCT:47671001","SNOMEDCT:52515009","MESH:D006547"],"information_content":72.4}
{"id":"HP:0100792","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acantholysis","equivalent_identifiers":["HP:0100792","NCIT:C54252","UMLS:C0000887","UMLS:C0241128","MEDDRA:10058820","SNOMEDCT:43327007","SNOMEDCT:441837004","MESH:D000051"],"information_content":86.3}
{"id":"HP:0100795","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormally straight spine","equivalent_identifiers":["HP:0100795","UMLS:C4021969"],"information_content":100.0}
{"id":"HP:0100797","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Toenail dysplasia","equivalent_identifiers":["HP:0100797","UMLS:C3276623"],"information_content":100.0}
{"id":"HP:0100798","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fingernail dysplasia","equivalent_identifiers":["HP:0100798","UMLS:C4020952"],"information_content":100.0}
{"id":"HP:0100800","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aplasia/Hypoplasia of the pancreas","equivalent_identifiers":["HP:0100800","UMLS:C4021968"],"information_content":87.2}
{"id":"HP:0100801","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pancreatic aplasia","equivalent_identifiers":["HP:0100801","UMLS:C4021967","SNOMEDCT:1144555008"],"information_content":100.0}
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{"id":"HP:0100810","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pointed helix","equivalent_identifiers":["HP:0100810","UMLS:C4020951"],"information_content":100.0}
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{"id":"HP:0200037","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin vesicle","equivalent_identifiers":["HP:0200037","NCIT:C111969","UMLS:C3814530","SNOMEDCT:827008005"],"information_content":95.4}
{"id":"HP:0200039","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pustule","equivalent_identifiers":["HP:0200039","NCIT:C78582","UMLS:C0241157","UMLS:C0542346","MEDDRA:10035048","MEDDRA:10035049","MEDDRA:10037578","SNOMEDCT:103605005","SNOMEDCT:271760008","SNOMEDCT:285305004","SNOMEDCT:47002008"],"information_content":95.4}
{"id":"HP:0200041","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin erosion","equivalent_identifiers":["HP:0200041","NCIT:C50845","UMLS:C0241069","UMLS:C3887524","MEDDRA:10040840","SNOMEDCT:93448009"],"information_content":83.1}
{"id":"HP:0200042","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin ulcer","equivalent_identifiers":["HP:0200042","NCIT:C54247","UMLS:C0037299","MEDDRA:10040943","MEDDRA:10040945","MEDDRA:10040947","MEDDRA:10045334","SNOMEDCT:46742003","MESH:D012883"],"information_content":83.6}
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{"id":"HP:0200048","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cyanotic attack","equivalent_identifiers":["HP:0200048","UMLS:C0578475","SNOMEDCT:301795004"],"information_content":100.0}
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{"id":"HP:0200055","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Small hand","equivalent_identifiers":["HP:0200055","UMLS:C0575802","SNOMEDCT:299032009"],"information_content":100.0}
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{"id":"HP:0200057","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marcus Gunn pupil","equivalent_identifiers":["HP:0200057","UMLS:C0549122","MEDDRA:10063705","SNOMEDCT:232122003","SNOMEDCT:247015002"],"information_content":100.0}
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{"id":"HP:0200065","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chorioretinal degeneration","equivalent_identifiers":["HP:0200065","UMLS:C0521683","MEDDRA:10081167","SNOMEDCT:247177004"],"information_content":88.2}
{"id":"HP:0200068","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nonprogressive visual loss","equivalent_identifiers":["HP:0200068","UMLS:C3553696","UMLS:C4021893"],"information_content":100.0}
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{"id":"HP:0500239","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Increased CSF albumin concentration","equivalent_identifiers":["HP:0500239","UMLS:C5139624"],"information_content":100.0}
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{"id":"HP:0500251","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abnormal urine sebacic acid concentration","equivalent_identifiers":["HP:0500251","UMLS:C5139636"],"information_content":95.4}
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{"id":"HP:4000027","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anti-LAD-1 antibody positivity","equivalent_identifiers":["HP:4000027","UMLS:C5539876"],"information_content":100.0}
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{"id":"HP:4000037","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital hydrocele","equivalent_identifiers":["HP:4000037","UMLS:C0159015","MEDDRA:10010505","SNOMEDCT:82062003"],"information_content":100.0}
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{"id":"HP:4000054","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Exanthem","equivalent_identifiers":["HP:4000054"],"information_content":92.8}
{"id":"HP:4000055","category":["biolink:PhenotypicFeature","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Intestinal inflammation","equivalent_identifiers":["HP:4000055","UMLS:C3889047","MEDDRA:10076319"],"information_content":100.0}
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{"id":"MONDO:0000208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly, short stature, and impaired glucose metabolism 1","equivalent_identifiers":["MONDO:0000208","OMIM:616033","UMLS:C4014997","medgen:863434"],"information_content":100.0}
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{"id":"MONDO:0000261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenoiditis","equivalent_identifiers":["MONDO:0000261","DOID:0050145","UMLS:C0001427","UMLS:C0396023","MEDDRA:10051223","SNOMEDCT:232420002","SNOMEDCT:70020005","medgen:507401","ICD10:J35.02","ICD9:474.01","HP:0031458"],"information_content":100.0}
{"id":"MONDO:0000265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aspiration pneumonia","equivalent_identifiers":["MONDO:0000265","DOID:0050152","UMLS:C0032290","MESH:D011015","MEDDRA:10003525","MEDDRA:10022026","MEDDRA:10022027","MEDDRA:10035669","SNOMEDCT:422588002","medgen:10814","ICD10:J69.0","HP:0011951"],"information_content":92.8}
{"id":"MONDO:0000313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemia","equivalent_identifiers":["MONDO:0000313","DOID:0050336","UMLS:C0085682","UMLS:C0595888","MESH:D017674","MEDDRA:10021058","MEDDRA:10021059","MEDDRA:10040370","NCIT:C37977","SNOMEDCT:4996001","medgen:39327","HP:0002148"],"information_content":80.2}
{"id":"MONDO:0000328","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperphosphatemia","equivalent_identifiers":["MONDO:0000328","DOID:0050459","UMLS:C0085681","UMLS:C0553706","MESH:D054559","MEDDRA:10020711","MEDDRA:10020712","MEDDRA:10040371","NCIT:C113750","SNOMEDCT:20165001","medgen:39326","icd11.foundation:1745515193","HP:0002905"],"information_content":83.6}
{"id":"MONDO:0000334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multinodular goiter","equivalent_identifiers":["MONDO:0000334","DOID:0050489","OMIM.PS:138800","UMLS:C0342208","MEDDRA:10075389","MEDDRA:10075390","NCIT:C131438","SNOMEDCT:237570007","medgen:87431","HP:0005987"],"information_content":90.9}
{"id":"MONDO:0000351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disorder of methionine catabolism","equivalent_identifiers":["MONDO:0000351","DOID:0050544","UMLS:C0268621","UMLS:C4048705","MESH:C564683","MEDDRA:10051245","MEDDRA:10054414","SNOMEDCT:124283007","SNOMEDCT:43123004","SNOMEDCT:57835009","medgen:887708","HP:0003235"],"information_content":90.9}
{"id":"MONDO:0000355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ullrich congenital muscular dystrophy","equivalent_identifiers":["MONDO:0000355","DOID:0050558","OMIM.PS:254090","orphanet:75840","UMLS:C4551860","MESH:C537521","NCIT:C123438","SNOMEDCT:240062007","medgen:1642667","icd11.foundation:1011547453"],"information_content":89.4}
{"id":"MONDO:0000365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary congenital glaucoma","equivalent_identifiers":["MONDO:0000365","DOID:0050593","UMLS:C1533041","NCIT:C150251","SNOMEDCT:415176004","medgen:288550","icd11.foundation:517092878","HP:0008007"],"information_content":88.2}
{"id":"MONDO:0000368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extrapulmonary tuberculosis","equivalent_identifiers":["MONDO:0000368","DOID:0050598","UMLS:C0679362","MESH:D000092225","MEDDRA:10064445","SNOMEDCT:423997002","medgen:671310","HP:0032271"],"information_content":76.7}
{"id":"MONDO:0000385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign digestive system neoplasm","equivalent_identifiers":["MONDO:0000385","DOID:0050624","UMLS:C0497538","MEDDRA:10004268","MEDDRA:10017934","MEDDRA:10017987","MEDDRA:10018239","MEDDRA:10060996","NCIT:C4787","SNOMEDCT:92118007","medgen:141680","HP:0006719"],"information_content":64.6}
{"id":"MONDO:0000387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypochromic microcytic anemia","equivalent_identifiers":["MONDO:0000387","DOID:0050642","UMLS:C0271901","MESH:C536357","MEDDRA:10002083","MEDDRA:10020972","MEDDRA:10055199","MEDDRA:10055212","SNOMEDCT:44666001","medgen:124413","HP:0004840"],"information_content":89.4}
{"id":"MONDO:0000390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitelliform macular dystrophy","equivalent_identifiers":["MONDO:0000390","DOID:0050661","OMIM.PS:153840","UMLS:C0339510","UMLS:C4024817","MESH:D057826","MEDDRA:10074147","NCIT:C118788","SNOMEDCT:90036004","medgen:137920","HP:0007677"],"information_content":87.2}
{"id":"MONDO:0000437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ataxia","equivalent_identifiers":["MONDO:0000437","DOID:0050753","orphanet:102002","UMLS:C0007758","MESH:D002524","MEDDRA:10003592","MEDDRA:10008025","NCIT:C82341","SNOMEDCT:85102008","medgen:849","HP:0001251"],"information_content":63.7}
{"id":"MONDO:0000440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metabolic acidosis","equivalent_identifiers":["MONDO:0000440","DOID:0050758","UMLS:C0220981","MEDDRA:10000492","MEDDRA:10027417","MEDDRA:10027419","NCIT:C28228","SNOMEDCT:59455009","medgen:65117","HP:0001942"],"information_content":82.6}
{"id":"MONDO:0000447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant polycystic liver disease","equivalent_identifiers":["MONDO:0000447","DOID:0050770","OMIM.PS:174050","orphanet:2924","UMLS:C0158683","MESH:C536330","MEDDRA:10048834","NCIT:C82833","SNOMEDCT:72925005","medgen:56388","icd11.foundation:1361740083","icd11.foundation:423904268","HP:0006557"],"information_content":88.2}
{"id":"MONDO:0000448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paraganglioma","equivalent_identifiers":["MONDO:0000448","DOID:0050773","OMIM.PS:168000","EFO:1000453","UMLS:C0030421","MESH:D010235","MEDDRA:10033792","MEDDRA:10061332","MEDDRA:10073860","NCIT:C3308","SNOMEDCT:127027008","SNOMEDCT:253029009","SNOMEDCT:302833002","SNOMEDCT:72787006","SNOMEDCT:803009","medgen:10571","HP:0002668"],"information_content":69.7}
{"id":"MONDO:0000453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short QT syndrome","equivalent_identifiers":["MONDO:0000453","DOID:0050793","OMIM.PS:609620","orphanet:51083","UMLS:C2348199","MESH:C580439","NCIT:C71060","SNOMEDCT:698272007","medgen:378835","icd11.foundation:553392015"],"information_content":89.4}
{"id":"MONDO:0000455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone dystrophy","equivalent_identifiers":["MONDO:0000455","DOID:0050795","orphanet:1871","UMLS:C0730290","UMLS:C3665342","MESH:D000077765","MEDDRA:10083940","SNOMEDCT:312917007","medgen:676499","HP:0008020"],"information_content":86.3}
{"id":"MONDO:0000463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ochoa syndrome","equivalent_identifiers":["MONDO:0000463","DOID:0050816","OMIM.PS:236730","orphanet:2704","UMLS:C0403555","MESH:C536480","MEDDRA:10089227","MEDDRA:10089228","SNOMEDCT:236533008","medgen:98015","icd11.foundation:443886910"],"information_content":92.8}
{"id":"MONDO:0000465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrioventricular block","equivalent_identifiers":["MONDO:0000465","DOID:0050820","UMLS:C0004245","UMLS:C1841659","MESH:D054537","MEDDRA:10003671","MEDDRA:10003672","MEDDRA:10003676","MEDDRA:10003680","MEDDRA:10003846","MEDDRA:10003847","MEDDRA:10019254","MEDDRA:10019255","NCIT:C26703","SNOMEDCT:233917008","medgen:13956","ICD10:I44.3","ICD9:426.10","HP:0001678"],"information_content":84.2}
{"id":"MONDO:0000466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"first-degree atrioventricular block","equivalent_identifiers":["MONDO:0000466","DOID:0050821","UMLS:C0085614","MEDDRA:10000018","MEDDRA:10003674","MEDDRA:10003681","MEDDRA:10003850","MEDDRA:10016699","MEDDRA:10019253","MEDDRA:10019258","MEDDRA:10019264","NCIT:C62015","SNOMEDCT:270492004","medgen:43215","HP:0011705"],"information_content":100.0}
{"id":"MONDO:0000467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"second-degree atrioventricular block","equivalent_identifiers":["MONDO:0000467","DOID:0050822","UMLS:C0264906","UMLS:C1621824","MEDDRA:10000022","MEDDRA:10003675","MEDDRA:10003677","MEDDRA:10003851","MEDDRA:10019259","MEDDRA:10019268","NCIT:C111119","SNOMEDCT:195039008","SNOMEDCT:195042002","medgen:75546","HP:0011706"],"information_content":90.9}
{"id":"MONDO:0000468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"third-degree atrioventricular block","equivalent_identifiers":["MONDO:0000468","DOID:0050823","UMLS:C0151517","MEDDRA:10003673","MEDDRA:10003678","MEDDRA:10003848","MEDDRA:10003852","MEDDRA:10010141","MEDDRA:10019256","MEDDRA:10019260","MEDDRA:10019262","MEDDRA:10019271","MEDDRA:10043440","MEDDRA:10065659","NCIT:C50501","SNOMEDCT:27885002","medgen:56230","HP:0001709"],"information_content":92.8}
{"id":"MONDO:0000476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized dystonia","equivalent_identifiers":["MONDO:0000476","DOID:0050835","orphanet:376724","UMLS:C0154674","UMLS:C0154675","UMLS:C1848954","MESH:D004422","MEDDRA:10042755","SNOMEDCT:192859002","SNOMEDCT:425492002","medgen:341342","ICD10:G24.1","ICD10:G24.2","ICD9:333.6","ICD9:333.8","HP:0007325"],"information_content":88.2}
{"id":"MONDO:0000477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal dystonia","equivalent_identifiers":["MONDO:0000477","DOID:0050836","UMLS:C0743332","MEDDRA:10088381","SNOMEDCT:445006008","medgen:149279","HP:0004373"],"information_content":81.7}
{"id":"MONDO:0000481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Torticollis","equivalent_identifiers":["MONDO:0000481","DOID:0050840","UMLS:C0040485","UMLS:C0152116","UMLS:C0949445","MESH:D014103","MEDDRA:10041407","MEDDRA:10044074","MEDDRA:10044078","MEDDRA:10048058","MEDDRA:10048059","MEDDRA:10064124","NCIT:C182201","NCIT:C85072","SNOMEDCT:270476009","SNOMEDCT:74333002","medgen:101818","icd11.foundation:632668568","HP:0000473"],"information_content":95.4}
{"id":"MONDO:0000482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Writer's cramp","equivalent_identifiers":["MONDO:0000482","DOID:0050841","UMLS:C0154676","MEDDRA:10031084","SNOMEDCT:52008007","medgen:57821","ICD9:333.84","HP:0002356"],"information_content":100.0}
{"id":"MONDO:0000483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculogyric crisis","equivalent_identifiers":["MONDO:0000483","DOID:0050842","UMLS:C0085637","MEDDRA:10011396","MEDDRA:10030071","MEDDRA:10041391","SNOMEDCT:5332004","medgen:43221","icd11.foundation:1191930451","HP:0010553"],"information_content":100.0}
{"id":"MONDO:0000485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dysphonia","equivalent_identifiers":["MONDO:0000485","DOID:0050844","UMLS:C1963946","MESH:D055154","MEDDRA:10067678","SNOMEDCT:3331000119108","medgen:409603","HP:0012049"],"information_content":100.0}
{"id":"MONDO:0000486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofacial dystonia","equivalent_identifiers":["MONDO:0000486","DOID:0050845","UMLS:C1851915","UMLS:C4023011","UMLS:C4072883","medgen:868612","HP:0012179"],"information_content":87.2}
{"id":"MONDO:0000487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemidystonia","equivalent_identifiers":["MONDO:0000487","DOID:0050846","UMLS:C1960561","SNOMEDCT:427232004","medgen:743329","HP:0032005"],"information_content":100.0}
{"id":"MONDO:0000490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomerulosclerosis","equivalent_identifiers":["MONDO:0000490","DOID:0050851","UMLS:C0178664","UMLS:C4476521","MEDDRA:10048614","MEDDRA:10061989","NCIT:C120888","SNOMEDCT:197661001","SNOMEDCT:82646005","medgen:61248","icd11.foundation:2068645853","HP:0000096"],"information_content":79.6}
{"id":"MONDO:0000494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal fibrosis","equivalent_identifiers":["MONDO:0000494","DOID:0050855","EFO:1001517","UMLS:C0151650","MEDDRA:10016647","MEDDRA:10023421","NCIT:C201689","SNOMEDCT:197660000","medgen:508798","HP:0030760"],"information_content":95.4}
{"id":"MONDO:0000495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oppositional defiant disorder","equivalent_identifiers":["MONDO:0000495","DOID:0050856","UMLS:C0029121","UMLS:C0236964","MESH:D000096865","MESH:D019958","MEDDRA:10003730","MEDDRA:10056440","NCIT:C92565","SNOMEDCT:18941000","medgen:18178","icd11.foundation:1487528823","HP:0010865"],"information_content":100.0}
{"id":"MONDO:0000499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-arteritic anterior ischemic optic neuropathy","equivalent_identifiers":["MONDO:0000499","DOID:0050864","UMLS:C1852242","MEDDRA:10068242","MEDDRA:10068245","MEDDRA:10068246","MEDDRA:10068249","medgen:338887","icd11.foundation:8640162","HP:0007634"],"information_content":95.4}
{"id":"MONDO:0000500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tongue squamous cell carcinoma","equivalent_identifiers":["MONDO:0000500","DOID:0050865","EFO:1000055","UMLS:C0349566","MEDDRA:10041865","NCIT:C4648","SNOMEDCT:276952000","medgen:91153","HP:0030413"],"information_content":84.8}
{"id":"MONDO:0000507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inclusion body myopathy with Paget disease of bone and frontotemporal dementia","equivalent_identifiers":["MONDO:0000507","DOID:0050881","OMIM.PS:167320","orphanet:52430","UMLS:C1833662","SNOMEDCT:703544004","medgen:322251","icd11.foundation:1947548457"],"information_content":89.4}
{"id":"MONDO:0000550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extra-adrenal sympathetic paraganglioma","equivalent_identifiers":["MONDO:0000550","DOID:0050936","EFO:0000489","UMLS:C1257877","NCIT:C48576","medgen:263453","HP:0006737"],"information_content":84.8}
{"id":"MONDO:0000598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aphasia","equivalent_identifiers":["MONDO:0000598","DOID:0060046","UMLS:C0003537","MESH:D001037","MEDDRA:10002948","MEDDRA:10077899","NCIT:C34393","SNOMEDCT:87486003","medgen:8159","icd11.foundation:1167055901","HP:0002381"],"information_content":89.4}
{"id":"MONDO:0000628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central nervous system organ benign neoplasm","equivalent_identifiers":["MONDO:0000628","DOID:0060090","UMLS:C0347509","NCIT:C188049","SNOMEDCT:92048008","medgen:488882","HP:0100835"],"information_content":71.2}
{"id":"MONDO:0000640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central nervous system primitive neuroectodermal neoplasm","equivalent_identifiers":["MONDO:0000640","DOID:0060103","UMLS:C3887678","NCIT:C5398","medgen:854517","HP:0030070"],"information_content":80.9}
{"id":"MONDO:0000663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anosognosia","equivalent_identifiers":["MONDO:0000663","DOID:0060133","UMLS:C0233824","UMLS:C0234507","MEDDRA:10068346","SNOMEDCT:20930002","SNOMEDCT:24340004","medgen:536043","icd11.foundation:833222383","HP:0000757"],"information_content":100.0}
{"id":"MONDO:0000665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"apraxia","equivalent_identifiers":["MONDO:0000665","DOID:0060135","UMLS:C0003635","MESH:D001072","MEDDRA:10003062","MEDDRA:10013976","NCIT:C180557","SNOMEDCT:68345001","SNOMEDCT:6950007","medgen:8166","icd11.foundation:986651951","ICD10:R48.2","HP:0002186"],"information_content":83.1}
{"id":"MONDO:0000671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"finger agnosia","equivalent_identifiers":["MONDO:0000671","DOID:0060141","UMLS:C0234509","SNOMEDCT:3449007","medgen:115960","HP:0010525"],"information_content":95.4}
{"id":"MONDO:0000680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"astereognosia","equivalent_identifiers":["MONDO:0000680","DOID:0060150","UMLS:C0234505","UMLS:C5848065","MEDDRA:10056477","SNOMEDCT:25094008","medgen:65881","icd11.foundation:756147896","HP:0010527"],"information_content":95.4}
{"id":"MONDO:0000685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"visual agnosia","equivalent_identifiers":["MONDO:0000685","DOID:0060155","UMLS:C0234502","UMLS:C2930796","MESH:C531604","MEDDRA:10077168","NCIT:C35276","SNOMEDCT:25762009","medgen:115959","HP:0030222"],"information_content":85.5}
{"id":"MONDO:0000688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inborn organic aciduria","equivalent_identifiers":["MONDO:0000688","DOID:0060159","orphanet:289899","UMLS:C0241775","NCIT:C101334","medgen:66037","icd11.foundation:1921636230","HP:0001992"],"information_content":64.0}
{"id":"MONDO:0000705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Clostridium difficile colitis","equivalent_identifiers":["MONDO:0000705","DOID:0060185","EFO:1001314","UMLS:C0014358","UMLS:C0085819","UMLS:C0238106","UMLS:C1257843","UMLS:C1257844","UMLS:C1257845","MESH:D004761","MEDDRA:10006833","MEDDRA:10009657","MEDDRA:10009899","MEDDRA:10014879","MEDDRA:10014900","MEDDRA:10037128","MEDDRA:10037130","MEDDRA:10052815","MEDDRA:10085157","MEDDRA:10087449","NCIT:C128347","NCIT:C35286","SNOMEDCT:397696004","SNOMEDCT:423590009","medgen:65946","ICD10:A04.7","HP:0032168"],"information_content":100.0}
{"id":"MONDO:0000709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crohn ileitis","equivalent_identifiers":["MONDO:0000709","DOID:0060189","UMLS:C0020877","UMLS:C0267380","MESH:D007079","MEDDRA:10011406","MEDDRA:10021312","MEDDRA:10021314","NCIT:C35329","NCIT:C84782","SNOMEDCT:38106008","SNOMEDCT:52457000","medgen:82754","HP:0032564"],"information_content":92.8}
{"id":"MONDO:0000721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xanthinuria","equivalent_identifiers":["MONDO:0000721","UMLS:C0220988","SNOMEDCT:190919008","medgen:450997","icd11.foundation:1565213608","HP:0010934"],"information_content":89.4}
{"id":"MONDO:0000723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stuttering","equivalent_identifiers":["MONDO:0000723","DOID:0060243","OMIM.PS:184450","UMLS:C0038131","UMLS:C0038506","UMLS:C0454542","UMLS:C0751527","UMLS:C0751528","UMLS:C0751529","MESH:D013342","MEDDRA:10041910","MEDDRA:10041912","MEDDRA:10042266","MEDDRA:10042267","NCIT:C35043","SNOMEDCT:229631007","SNOMEDCT:39423001","medgen:20932","ICD10:F80.81","HP:0025268"],"information_content":89.4}
{"id":"MONDO:0000727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scapuloperoneal myopathy","equivalent_identifiers":["MONDO:0000727","DOID:0060253","UMLS:C2931268","MESH:C536624","medgen:419759","HP:0009054"],"information_content":92.8}
{"id":"MONDO:0000728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ptosis","equivalent_identifiers":["MONDO:0000728","DOID:0060260","UMLS:C0005745","MESH:D001763","MEDDRA:10005157","MEDDRA:10015995","MEDDRA:10037273","MEDDRA:10037274","NCIT:C27298","SNOMEDCT:11934000","medgen:2287","ICD10:H02.4","ICD9:374.3","HP:0000508"],"information_content":86.3}
{"id":"MONDO:0000733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cornea plana","equivalent_identifiers":["MONDO:0000733","DOID:0060287","OMIM.PS:121400","orphanet:53691","UMLS:C0344529","SNOMEDCT:204145006","medgen:576329","icd11.foundation:262157734","ICD10:Q13.4","HP:0007720"],"information_content":92.8}
{"id":"MONDO:0000736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"freckles","equivalent_identifiers":["MONDO:0000736","DOID:0060304","OMIM.PS:127500","orphanet:241","EFO:0003963","UMLS:C0016689","UMLS:C0025209","UMLS:C1306229","UMLS:C2930995","MESH:C535730","MESH:D008548","MEDDRA:10014970","MEDDRA:10017338","MEDDRA:10027157","MEDDRA:10064128","NCIT:C173131","NCIT:C204908","SNOMEDCT:239082002","SNOMEDCT:403536009","SNOMEDCT:414662006","SNOMEDCT:48010006","SNOMEDCT:699225003","medgen:419691","HP:0001480"],"information_content":90.9}
{"id":"MONDO:0000740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Large adenoids","equivalent_identifiers":["MONDO:0000740","DOID:0060311","UMLS:C0149825","UMLS:C0455938","MEDDRA:10001229","SNOMEDCT:111591002","SNOMEDCT:276442006","medgen:628857","ICD10:J35.2","ICD9:474.12","HP:0040261"],"information_content":100.0}
{"id":"MONDO:0000741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angular cheilitis","equivalent_identifiers":["MONDO:0000741","DOID:0060312","UMLS:C0221237","MEDDRA:10002509","MEDDRA:10002510","MEDDRA:10058162","MEDDRA:10058164","NCIT:C112198","SNOMEDCT:266429005","medgen:526202","icd11.foundation:591060439","ICD10:K13.0","HP:0030318"],"information_content":100.0}
{"id":"MONDO:0000744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung abscess","equivalent_identifiers":["MONDO:0000744","DOID:0060317","EFO:1001362","UMLS:C0024110","MESH:D008169","MEDDRA:10000301","MEDDRA:10025028","MEDDRA:10025030","NCIT:C99090","SNOMEDCT:73452002","medgen:7397","ICD10:J85.2","ICD9:513.0","HP:0025044"],"information_content":100.0}
{"id":"MONDO:0000745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac arrest","equivalent_identifiers":["MONDO:0000745","DOID:0060319","EFO:0009492","UMLS:C0018790","UMLS:C0444720","MESH:D006323","MEDDRA:10003109","MEDDRA:10003586","MEDDRA:10003587","MEDDRA:10003589","MEDDRA:10007515","MEDDRA:10019249","MEDDRA:10041914","MEDDRA:10047284","MEDDRA:10047285","MEDDRA:10082515","NCIT:C50479","SNOMEDCT:261195002","SNOMEDCT:397829000","SNOMEDCT:410429000","medgen:5456","icd11.foundation:395422191","ICD10:I46","ICD9:427.5","HP:0001695"],"information_content":85.5}
{"id":"MONDO:0000748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mastoiditis","equivalent_identifiers":["MONDO:0000748","DOID:0060322","UMLS:C0024904","MESH:D008417","MEDDRA:10026900","MEDDRA:10026902","MEDDRA:10046004","NCIT:C128368","SNOMEDCT:52404001","medgen:7480","ICD10:H70.9","ICD9:383.9","HP:0000265"],"information_content":95.4}
{"id":"MONDO:0000750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dental abscess","equivalent_identifiers":["MONDO:0000750","DOID:0060324","UMLS:C0518988","MEDDRA:10000278","MEDDRA:10012314","MEDDRA:10044016","MEDDRA:10088408","NCIT:C35475","SNOMEDCT:299709002","medgen:99235","ICD10:K04.6","HP:0030757"],"information_content":90.9}
{"id":"MONDO:0000754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anal fistula","equivalent_identifiers":["MONDO:0000754","DOID:0060328","orphanet:228113","UMLS:C0149889","UMLS:C0205929","MESH:D012003","MEDDRA:10002156","MEDDRA:10002645","MEDDRA:10016718","MEDDRA:10016721","NCIT:C60785","SNOMEDCT:72779005","SNOMEDCT:786878009","medgen:61482","icd11.foundation:206903882","ICD10:K60.3","HP:0010447"],"information_content":95.4}
{"id":"MONDO:0000755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectopic pregnancy","equivalent_identifiers":["MONDO:0000755","DOID:0060329","UMLS:C0032987","MESH:D011271","MEDDRA:10014166","MEDDRA:10014169","MEDDRA:10015765","MEDDRA:10015865","MEDDRA:10036559","MEDDRA:10045857","MEDDRA:10072039","NCIT:C34945","SNOMEDCT:34801009","medgen:18618","icd11.foundation:1563334645","ICD10:O00","ICD9:633","HP:0031456"],"information_content":85.5}
{"id":"MONDO:0000775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug allergy","equivalent_identifiers":["MONDO:0000775","DOID:0060500","EFO:0009482","UMLS:C0013182","UMLS:C5139486","MESH:D004342","MEDDRA:10013661","MEDDRA:10013700","MEDDRA:10082135","SNOMEDCT:416093006","SNOMEDCT:416098002","medgen:41663","HP:0410323"],"information_content":100.0}
{"id":"MONDO:0000811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anomalous left coronary artery from the pulmonary artery","equivalent_identifiers":["MONDO:0000811","DOID:0060562","UMLS:C1735886","UMLS:C3472166","MESH:D063748","MEDDRA:10066223","MEDDRA:10084540","SNOMEDCT:450301003","medgen:760471","HP:0011638"],"information_content":100.0}
{"id":"MONDO:0000819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anencephaly","equivalent_identifiers":["MONDO:0000819","DOID:0060668","OMIM.PS:206500","UMLS:C0002902","MESH:D000757","MEDDRA:10002317","MEDDRA:10002318","MEDDRA:10002320","NCIT:C84560","SNOMEDCT:609417004","SNOMEDCT:89369001","medgen:8068","icd11.foundation:1292761836","ICD10:Q00.0","HP:0002323"],"information_content":88.2}
{"id":"MONDO:0000820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral cavernous malformation","equivalent_identifiers":["MONDO:0000820","DOID:0060669","UMLS:C2919945","MEDDRA:10071747","NCIT:C84626","SNOMEDCT:444869007","medgen:418825","icd11.foundation:916773262","HP:0033522"],"information_content":87.2}
{"id":"MONDO:0000845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrous dysplasia","equivalent_identifiers":["MONDO:0000845","DOID:0080031","orphanet:249","UMLS:C0016063","UMLS:C0259779","MESH:D005357","MEDDRA:10016664","NCIT:C34609","SNOMEDCT:10623005","SNOMEDCT:254145001","SNOMEDCT:789439000","medgen:120444","icd11.foundation:1704766818","HP:0010734"],"information_content":86.3}
{"id":"MONDO:0000859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spina bifida occulta","equivalent_identifiers":["MONDO:0000859","DOID:0080073","orphanet:645202","UMLS:C0080174","MESH:D016136","MEDDRA:10009650","MEDDRA:10041525","NCIT:C101044","SNOMEDCT:76916001","medgen:36380","icd11.foundation:449489594","HP:0003298"],"information_content":79.6}
{"id":"MONDO:0000863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, lactic acidosis, and sideroblastic anemia","equivalent_identifiers":["MONDO:0000863","DOID:0080099","OMIM.PS:600462","orphanet:2598","UMLS:C1838103","MESH:C536101","SNOMEDCT:724138007","medgen:373888"],"information_content":90.9}
{"id":"MONDO:0000902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agenesis of the corpus callosum with peripheral neuropathy","equivalent_identifiers":["MONDO:0000902","DOID:0090003","OMIM:218000","orphanet:1496","UMLS:C0795950","MESH:C536446","SNOMEDCT:702439002","medgen:162893","ICD10:G60.0"],"information_content":100.0}
{"id":"MONDO:0000903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonus-dystonia syndrome","equivalent_identifiers":["MONDO:0000903","DOID:0090033","orphanet:36899","MESH:C536096","SNOMEDCT:439732004"],"information_content":90.9}
{"id":"MONDO:0000908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 13","equivalent_identifiers":["MONDO:0000908","DOID:0110084","OMIM:615616","UMLS:C3810138","NCIT:C176008","medgen:816468"],"information_content":100.0}
{"id":"MONDO:0000909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartter disease type 4B","equivalent_identifiers":["MONDO:0000909","DOID:0110146","OMIM:613090","UMLS:C4310805","medgen:934772"],"information_content":100.0}
{"id":"MONDO:0000910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 6","equivalent_identifiers":["MONDO:0000910","DOID:0110413","OMIM:312612","UMLS:C1839368","MESH:C564065","medgen:333305"],"information_content":100.0}
{"id":"MONDO:0000912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 5","equivalent_identifiers":["MONDO:0000912","DOID:0110507","OMIM:600792","UMLS:C1833319","MESH:C563444","medgen:331485"],"information_content":100.0}
{"id":"MONDO:0000913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spherocytosis type 2","equivalent_identifiers":["MONDO:0000913","DOID:0110917","OMIM:616649","UMLS:C2674219","medgen:436112"],"information_content":100.0}
{"id":"MONDO:0000914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CADASIL 1","equivalent_identifiers":["MONDO:0000914","DOID:0111035","OMIM:125310","orphanet:136","UMLS:C4551768","MESH:D046589","NCIT:C84606","SNOMEDCT:390936003","medgen:1634330","icd11.foundation:1621899838","ICD10:F01.1"],"information_content":92.8}
{"id":"MONDO:0000945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"venous insufficiency","equivalent_identifiers":["MONDO:0000945","DOID:10128","UMLS:C0042485","MESH:D014689","MEDDRA:10047220","MEDDRA:10057320","MEDDRA:10075056","NCIT:C127822","SNOMEDCT:20696009","medgen:21841","ICD9:459.81","HP:0005293"],"information_content":82.1}
{"id":"MONDO:0000948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xerophthalmia","equivalent_identifiers":["MONDO:0000948","DOID:10138","UMLS:C0022575","UMLS:C0043349","UMLS:C2930821","MESH:C531719","MESH:D014985","MEDDRA:10023350","MEDDRA:10043166","MEDDRA:10048221","MEDDRA:10060861","NCIT:C34503","SNOMEDCT:302896008","SNOMEDCT:363677007","medgen:9620","ICD10:E50.7","ICD9:375.15","HP:0001097"],"information_content":95.4}
{"id":"MONDO:0000950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asthenopia","equivalent_identifiers":["MONDO:0000950","UMLS:C0004095","MESH:D001248","MEDDRA:10003552","MEDDRA:10015969","MEDDRA:10043887","MEDDRA:10043888","MEDDRA:10049755","MEDDRA:10088356","SNOMEDCT:46640001","SNOMEDCT:70323002","medgen:2108","HP:0031590"],"information_content":100.0}
{"id":"MONDO:0000980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic atherosclerosis","equivalent_identifiers":["MONDO:0000980","DOID:10230","UMLS:C0155733","MEDDRA:10002892","MEDDRA:10003605","NCIT:C197845","SNOMEDCT:81817003","medgen:510061","ICD10:I70.0","ICD9:440.0","HP:0012397"],"information_content":95.4}
{"id":"MONDO:0000986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleurisy","equivalent_identifiers":["MONDO:0000986","DOID:10247","EFO:1001825","UMLS:C0029799","UMLS:C0032231","MESH:D010998","MEDDRA:10035618","MEDDRA:10035619","MEDDRA:10035624","NCIT:C26860","SNOMEDCT:196075003","medgen:10807","icd11.foundation:317852053","ICD9:511.8","HP:0002102"],"information_content":88.2}
{"id":"MONDO:0001008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharophimosis","equivalent_identifiers":["MONDO:0001008","DOID:10348","UMLS:C0005744","MESH:D016569","MEDDRA:10005155","medgen:2670","ICD10:H02.52","ICD9:374.46","HP:0000581"],"information_content":92.8}
{"id":"MONDO:0001014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic leukemia","equivalent_identifiers":["MONDO:0001014","DOID:1036","UMLS:C1279296","UMLS:C4280478","MEDDRA:10008943","MEDDRA:10008944","MEDDRA:10008946","MEDDRA:10008948","MEDDRA:10008949","MEDDRA:10024294","MEDDRA:10024316","MEDDRA:10024333","MEDDRA:10024354","MEDDRA:10060575","NCIT:C3483","SNOMEDCT:128933000","SNOMEDCT:2557004","SNOMEDCT:92812005","medgen:220905","HP:0005558"],"information_content":68.4}
{"id":"MONDO:0001020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amblyopia","equivalent_identifiers":["MONDO:0001020","DOID:10376","UMLS:C0002418","MESH:D000550","MEDDRA:10001906","MEDDRA:10001911","MEDDRA:10001915","NCIT:C118764","SNOMEDCT:387742006","medgen:8009","ICD10:H53.00","ICD9:368.00","HP:0000646"],"information_content":83.1}
{"id":"MONDO:0001029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Klippel-Feil syndrome","equivalent_identifiers":["MONDO:0001029","DOID:10426","OMIM.PS:118100","orphanet:2345","UMLS:C0022738","MESH:D007714","MEDDRA:10023464","NCIT:C98967","SNOMEDCT:388981000","SNOMEDCT:5601008","medgen:9645","ICD10:Q76.1","ICD9:756.16","HP:0004602"],"information_content":85.5}
{"id":"MONDO:0001036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypopyon","equivalent_identifiers":["MONDO:0001036","DOID:10443","UMLS:C0020641","MEDDRA:10021086","NCIT:C50593","SNOMEDCT:87807004","medgen:43802","icd11.foundation:803985395","ICD10:H20.05","ICD9:364.05","HP:0031615"],"information_content":95.4}
{"id":"MONDO:0001039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tonsillitis","equivalent_identifiers":["MONDO:0001039","DOID:10456","UMLS:C0040425","UMLS:C0149517","UMLS:C0740402","MESH:D014069","MEDDRA:10009152","MEDDRA:10044008","MEDDRA:10044010","MEDDRA:10044011","MEDDRA:10044012","MEDDRA:10065169","NCIT:C116006","SNOMEDCT:90176007","SNOMEDCT:90979004","medgen:1781351","ICD10:J35.01","ICD9:474.00","HP:0011110"],"information_content":89.4}
{"id":"MONDO:0001044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal atresia","equivalent_identifiers":["MONDO:0001044","DOID:10485","UMLS:C0014850","MESH:D004933","MEDDRA:10003651","MEDDRA:10003652","MEDDRA:10015471","MEDDRA:10021530","MEDDRA:10030146","MEDDRA:10055460","MEDDRA:10055495","MEDDRA:10056097","MEDDRA:10072767","MEDDRA:10072768","NCIT:C87072","SNOMEDCT:26179002","medgen:4545","ICD10:Q39.0","HP:0002032"],"information_content":92.8}
{"id":"MONDO:0001045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal atresia","equivalent_identifiers":["MONDO:0001045","DOID:10486","UMLS:C0021828","MESH:D007409","MEDDRA:10050083","MEDDRA:10062022","NCIT:C84790","medgen:7129","ICD10:Q41.1","HP:0011100"],"information_content":83.6}
{"id":"MONDO:0001046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anus absent","equivalent_identifiers":["MONDO:0001046","DOID:10488","OMIM:207500","OMIM:301800","UMLS:C0003466","UMLS:C0577037","MESH:D001006","MEDDRA:10002120","MEDDRA:10002853","MEDDRA:10010330","MEDDRA:10021528","NCIT:C84784","SNOMEDCT:204712000","SNOMEDCT:204731006","SNOMEDCT:300315008","medgen:1997","icd11.foundation:515168801","ICD10:Q42.3","HP:0002023"],"information_content":95.4}
{"id":"MONDO:0001055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conjunctival pterygium","equivalent_identifiers":["MONDO:0001055","DOID:10526","UMLS:C4520843","MEDDRA:10037263","MEDDRA:10037265","MEDDRA:10081845","medgen:1625284","HP:0034363"],"information_content":92.8}
{"id":"MONDO:0001056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric cancer","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0001056","DOID:10534","OMIM:613659","UMLS:C0024623","UMLS:C0153421","UMLS:C0153422","UMLS:C0153423","UMLS:C3150911","MEDDRA:10017758","MEDDRA:10017760","MEDDRA:10017796","MEDDRA:10025768","MEDDRA:10025950","MEDDRA:10026074","MEDDRA:10026476","MEDDRA:10026486","MEDDRA:10042080","NCIT:C194067","NCIT:C194069","NCIT:C194070","NCIT:C9331","SNOMEDCT:187742008","SNOMEDCT:269459004","SNOMEDCT:269460009","SNOMEDCT:363349007","medgen:44264","ICD10:C16","ICD10:C16.2","ICD10:C16.5","ICD10:C16.6","ICD9:151","ICD9:151.4","ICD9:151.5","ICD9:151.6"],"information_content":65.1}
{"id":"MONDO:0001059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric lymphoma","equivalent_identifiers":["MONDO:0001059","DOID:10540","UMLS:C0349532","MEDDRA:10017795","NCIT:C4636","SNOMEDCT:276811008","medgen:87603","HP:0045038"],"information_content":83.6}
{"id":"MONDO:0001068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteomalacia","equivalent_identifiers":["MONDO:0001068","DOID:10573","EFO:1002027","UMLS:C0029442","UMLS:C3887650","MESH:D010018","MEDDRA:10001411","MEDDRA:10031250","MEDDRA:10031251","NCIT:C26838","NCIT:C96867","SNOMEDCT:4598005","medgen:14533","ICD10:M83","ICD9:268.2","HP:0002749","MP:0009445"],"information_content":85.5}
{"id":"MONDO:0001071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability","equivalent_identifiers":["MONDO:0001071","DOID:1059","UMLS:C0025362","UMLS:C0423903","UMLS:C0917816","UMLS:C1843367","UMLS:C3714756","UMLS:C4020876","MESH:D008607","MEDDRA:10012131","MEDDRA:10027351","MEDDRA:10027378","MEDDRA:10038775","MEDDRA:10046009","MEDDRA:10067989","MEDDRA:10077548","MEDDRA:10078089","NCIT:C84392","NCIT:C97250","SNOMEDCT:110359009","SNOMEDCT:228156007","SNOMEDCT:247578003","SNOMEDCT:91138005","medgen:811461","HP:0001249"],"information_content":61.1}
{"id":"MONDO:0001075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"steatorrhea","equivalent_identifiers":["MONDO:0001075","UMLS:C0038238","MESH:D045602","MEDDRA:10016086","MEDDRA:10016266","MEDDRA:10016293","MEDDRA:10041968","MEDDRA:10041969","NCIT:C86917","SNOMEDCT:27868004","SNOMEDCT:66187002","medgen:20948","HP:0002570"],"information_content":89.4}
{"id":"MONDO:0001076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucose intolerance","equivalent_identifiers":["MONDO:0001076","DOID:10603","EFO:0002546","UMLS:C0235401","UMLS:C0271650","MESH:D018149","MEDDRA:10000137","MEDDRA:10008423","MEDDRA:10018426","MEDDRA:10018429","MEDDRA:10024016","MEDDRA:10052426","NCIT:C34646","SNOMEDCT:267426009","SNOMEDCT:9414007","medgen:75760","icd11.foundation:1392580302","ICD10:R73.03","HP:0001952"],"information_content":80.9}
{"id":"MONDO:0001085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interstitial nephritis","equivalent_identifiers":["MONDO:0001085","DOID:1063","UMLS:C0027707","UMLS:C0041349","MESH:D009395","MEDDRA:10029134","MEDDRA:10048302","NCIT:C123036","NCIT:C26834","SNOMEDCT:264536006","SNOMEDCT:28689008","SNOMEDCT:428255004","medgen:11952","ICD10:N12","HP:0001970"],"information_content":92.8}
{"id":"MONDO:0001100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gigantomastia","equivalent_identifiers":["MONDO:0001100","DOID:10688","UMLS:C0020565","UMLS:C0392533","UMLS:C2225524","MEDDRA:10006242","MEDDRA:10020881","MEDDRA:10020885","MEDDRA:10026733","MEDDRA:10064841","NCIT:C3125","SNOMEDCT:372281005","SNOMEDCT:372283008","SNOMEDCT:372285001","medgen:43789","icd11.foundation:2078176266","ICD10:N62","ICD9:611.1","HP:0010313"],"information_content":92.8}
{"id":"MONDO:0001104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxic diffuse goiter","equivalent_identifiers":["MONDO:0001104","DOID:10719","UMLS:C0154138","UMLS:C0342122","MEDDRA:10044139","MEDDRA:10044141","MEDDRA:10044142","SNOMEDCT:267374005","medgen:488851","ICD9:242.00","HP:0011784"],"information_content":85.5}
{"id":"MONDO:0001106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kidney failure","equivalent_identifiers":["MONDO:0001106","DOID:1074","EFO:1002048","UMLS:C0035078","UMLS:C1565489","UMLS:C1839604","MESH:D051437","MEDDRA:10016149","MEDDRA:10021523","MEDDRA:10022467","MEDDRA:10023418","MEDDRA:10038435","MEDDRA:10038448","MEDDRA:10038449","MEDDRA:10038450","MEDDRA:10038469","MEDDRA:10038474","MEDDRA:10062237","NCIT:C114592","NCIT:C4376","SNOMEDCT:236423003","SNOMEDCT:42399005","SNOMEDCT:723188008","medgen:11177","icd11.foundation:761526554","ICD10:N19","ICD9:586","HP:0000083"],"information_content":75.3}
{"id":"MONDO:0001117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methemoglobinemia","equivalent_identifiers":["MONDO:0001117","DOID:10783","UMLS:C0025637","UMLS:C5700167","MESH:D008708","MEDDRA:10027496","MEDDRA:10027497","MEDDRA:10027506","NCIT:C34817","SNOMEDCT:131171006","SNOMEDCT:38959009","medgen:6339","ICD10:D74","ICD9:289.7","HP:0012119"],"information_content":86.3}
{"id":"MONDO:0001119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature menopause","equivalent_identifiers":["MONDO:0001119","DOID:10787","EFO:0009005","UMLS:C0025322","MESH:D008594","MEDDRA:10014045","MEDDRA:10027312","MEDDRA:10036601","MEDDRA:10066271","NCIT:C80099","SNOMEDCT:237788002","SNOMEDCT:373717006","medgen:9963","ICD10:E28.31","ICD9:256.31","HP:0008209"],"information_content":95.4}
{"id":"MONDO:0001126","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric ulcer","equivalent_identifiers":["MONDO:0001126","DOID:10808","EFO:0009454","UMLS:C0038358","MESH:D013276","MEDDRA:10017822","MEDDRA:10042116","MEDDRA:10045304","MEDDRA:10045336","MEDDRA:10045374","NCIT:C3388","SNOMEDCT:397825006","medgen:21330","icd11.foundation:1437411258","ICD10:K25","ICD9:531","HP:0002592"],"information_content":92.8}
{"id":"MONDO:0001134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"essential hypertension","equivalent_identifiers":["MONDO:0001134","DOID:10825","OMIM:145500","UMLS:C0085580","MESH:D000075222","MEDDRA:10015488","MEDDRA:10015491","MEDDRA:10036695","MEDDRA:10045866","NCIT:C3478","SNOMEDCT:59621000","medgen:88442","icd11.foundation:761947693","ICD9:401"],"information_content":83.1}
{"id":"MONDO:0001142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"salivary gland disorder","equivalent_identifiers":["MONDO:0001142","DOID:10854","EFO:0008581","UMLS:C0029773","UMLS:C0036093","UMLS:C0149772","MESH:D012466","MEDDRA:10032633","MEDDRA:10039405","MEDDRA:10045759","MEDDRA:10061935","NCIT:C26879","SNOMEDCT:10890000","medgen:892384","ICD9:527.8","HP:0010286"],"information_content":62.8}
{"id":"MONDO:0001146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fourth cranial nerve palsy","equivalent_identifiers":["MONDO:0001146","DOID:10869","UMLS:C0271375","MEDDRA:10017069","MEDDRA:10023109","MEDDRA:10023110","MEDDRA:10044692","MEDDRA:10050047","MEDDRA:10052886","MEDDRA:10054201","NCIT:C180994","SNOMEDCT:20610004","medgen:75746","HP:0007011"],"information_content":95.4}
{"id":"MONDO:0001147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meningocele","equivalent_identifiers":["MONDO:0001147","DOID:1088","UMLS:C0009730","UMLS:C0025299","UMLS:C1261470","MESH:D008588","MEDDRA:10027266","NCIT:C101209","NCIT:C105595","SNOMEDCT:171131006","SNOMEDCT:172069000","SNOMEDCT:65144005","medgen:44356","HP:0002435"],"information_content":73.9}
{"id":"MONDO:0001149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly","equivalent_identifiers":["MONDO:0001149","DOID:10907","UMLS:C4551563","MESH:D008831","NCIT:C85874","SNOMEDCT:1148757008","SNOMEDCT:1829003","medgen:1644158","icd11.foundation:179350437","ICD10:Q02","ICD9:742.1","HP:0000252"],"information_content":73.7}
{"id":"MONDO:0001150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrocephalus","equivalent_identifiers":["MONDO:0001150","DOID:10908","UMLS:C0020255","MESH:D006849","MEDDRA:10020508","MEDDRA:10020512","MEDDRA:10020513","NCIT:C3111","SNOMEDCT:230745008","medgen:9335","icd11.foundation:574533444","ICD10:G91","HP:0000238"],"information_content":78.5}
{"id":"MONDO:0001152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amnesia","equivalent_identifiers":["MONDO:0001152","DOID:10914","DOID:4544","EFO:0001072","EFO:1001454","UMLS:C0002622","UMLS:C0002625","UMLS:C0233794","UMLS:C0542476","UMLS:C0751295","UMLS:C1963167","UMLS:C3887551","MESH:D000647","MEDDRA:10001949","MEDDRA:10001952","MEDDRA:10001954","MEDDRA:10001957","MEDDRA:10017060","MEDDRA:10024871","MEDDRA:10027171","MEDDRA:10027172","MEDDRA:10027174","MEDDRA:10027175","MEDDRA:10027176","MEDDRA:10027178","MEDDRA:10061423","NCIT:C2867","NCIT:C46084","NCIT:C55427","NCIT:C78444","SNOMEDCT:3298001","SNOMEDCT:386807006","SNOMEDCT:48167000","SNOMEDCT:55533009","medgen:1882","icd11.foundation:386330688","ICD10:R41.3","ICD9:294.0","HP:0002354"],"information_content":84.2}
{"id":"MONDO:0001156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"borderline personality disorder","equivalent_identifiers":["MONDO:0001156","DOID:10930","UMLS:C0006012","UMLS:C0338970","MESH:D001883","MEDDRA:10006033","MEDDRA:10006034","MEDDRA:10079255","NCIT:C92633","SNOMEDCT:191765005","SNOMEDCT:20010003","medgen:14197","icd11.foundation:189289487","ICD10:F60.3","ICD9:301.83","HP:0012076"],"information_content":100.0}
{"id":"MONDO:0001162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Disinhibition","equivalent_identifiers":["MONDO:0001162","DOID:10937","UMLS:C0021122","UMLS:C0349280","UMLS:C0424296","MESH:D007174","MEDDRA:10013142","MEDDRA:10021561","MEDDRA:10021562","MEDDRA:10021564","MEDDRA:10041246","MEDDRA:10061215","NCIT:C117253","NCIT:C34723","SNOMEDCT:247977003","SNOMEDCT:66347000","medgen:5769","ICD10:F63.9","ICD9:312.30","HP:0000734"],"information_content":76.0}
{"id":"MONDO:0001166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephritis","equivalent_identifiers":["MONDO:0001166","DOID:10952","EFO:1002050","UMLS:C0027697","MESH:D009393","MEDDRA:10029117","MEDDRA:10029138","NCIT:C26833","SNOMEDCT:52845002","medgen:14328","ICD10:N08","HP:0000123"],"information_content":71.9}
{"id":"MONDO:0001167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic diplegia","equivalent_identifiers":["MONDO:0001167","DOID:10965","UMLS:C0023882","UMLS:C0154695","UMLS:C0270804","MESH:C537945","MEDDRA:10013035","MEDDRA:10021741","MEDDRA:10033834","MEDDRA:10041414","MEDDRA:10067130","MEDDRA:10088839","NCIT:C34781","SNOMEDCT:281411007","SNOMEDCT:58193001","medgen:124371","ICD10:G80.1","ICD9:343.0","HP:0001264"],"information_content":100.0}
{"id":"MONDO:0001168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic hemiplegia","equivalent_identifiers":["MONDO:0001168","DOID:10967","UMLS:C0154694","UMLS:C0270805","MEDDRA:10019475","MEDDRA:10021742","MEDDRA:10041413","MEDDRA:10058978","NCIT:C116905","SNOMEDCT:43486001","SNOMEDCT:79633009","medgen:56345","icd11.foundation:1030700023","ICD9:343.1","HP:0011099"],"information_content":95.4}
{"id":"MONDO:0001170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemiplegia","equivalent_identifiers":["MONDO:0001170","DOID:10969","EFO:0009453","UMLS:C0018991","UMLS:C0392550","MESH:D006429","MEDDRA:10019468","MEDDRA:10019473","MEDDRA:10021748","MEDDRA:10033826","NCIT:C64329","SNOMEDCT:1593000","SNOMEDCT:50582007","medgen:9196","icd11.foundation:1641958762","ICD9:343.4","HP:0002301"],"information_content":86.3}
{"id":"MONDO:0001176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lens disorder","equivalent_identifiers":["MONDO:0001176","DOID:110","EFO:0009674","UMLS:C0023308","UMLS:C0549651","MESH:D007905","MEDDRA:10024204","MEDDRA:10061219","NCIT:C26812","SNOMEDCT:10810001","medgen:892382","ICD10:H27.9","HP:0000517"],"information_content":68.2}
{"id":"MONDO:0001179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pinguecula","equivalent_identifiers":["MONDO:0001179","DOID:11029","EFO:1001824","UMLS:C0152255","MESH:D059407","MEDDRA:10035060","MEDDRA:10035061","MEDDRA:10035062","NCIT:C129468","SNOMEDCT:87614000","medgen:56273","ICD10:H11.15","ICD9:372.51","HP:0031830"],"information_content":100.0}
{"id":"MONDO:0001186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"depersonalization disorder","equivalent_identifiers":["MONDO:0001186","DOID:11038","UMLS:C0011551","UMLS:C0683416","MESH:D003861","MEDDRA:10012357","MEDDRA:10012358","MEDDRA:10012359","MEDDRA:10012360","NCIT:C94331","SNOMEDCT:70764005","SNOMEDCT:79499004","medgen:151919","ICD9:300.6","HP:5200217"],"information_content":100.0}
{"id":"MONDO:0001187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary bladder cancer","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0001187","DOID:11054","OMIM:109800","UMLS:C0005684","MEDDRA:10005003","MEDDRA:10005004","MEDDRA:10005013","MEDDRA:10025735","MEDDRA:10025753","NCIT:C9334","SNOMEDCT:399326009","medgen:14150","ICD10:C67","ICD9:188","KEGG.DISEASE:05219"],"information_content":65.4}
{"id":"MONDO:0001196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dyspareunia","equivalent_identifiers":["MONDO:0001196","DOID:11120","UMLS:C0154466","UMLS:C1384606","MESH:D004414","MEDDRA:10009850","MEDDRA:10013941","MEDDRA:10013944","MEDDRA:10013945","MEDDRA:10033510","MEDDRA:10037193","NCIT:C2997","SNOMEDCT:41021005","SNOMEDCT:71315007","medgen:509600","ICD10:F52.6","ICD9:302.76","HP:0030016"],"information_content":83.1}
{"id":"MONDO:0001209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"common wart","equivalent_identifiers":["MONDO:0001209","DOID:11165","EFO:0009662","UMLS:C0043037","UMLS:C3665596","UMLS:C5848091","MESH:D014860","MEDDRA:10010114","MEDDRA:10010115","MEDDRA:10047320","MEDDRA:10047322","MEDDRA:10047484","MEDDRA:10047825","MEDDRA:10047826","MEDDRA:10047828","MEDDRA:10047829","NCIT:C27087","NCIT:C5028","SNOMEDCT:1296947008","SNOMEDCT:1296960002","SNOMEDCT:30285000","SNOMEDCT:57019003","medgen:777120","HP:0200043"],"information_content":82.1}
{"id":"MONDO:0001210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enophthalmos","equivalent_identifiers":["MONDO:0001210","DOID:11175","UMLS:C0014306","UMLS:C0423224","MESH:D015841","MEDDRA:10014853","MEDDRA:10014857","MEDDRA:10016013","MEDDRA:10042497","NCIT:C79552","SNOMEDCT:246923005","SNOMEDCT:80093006","medgen:473112","ICD10:H05.4","ICD9:376.5","HP:0000490"],"information_content":100.0}
{"id":"MONDO:0001220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoparathyroidism","equivalent_identifiers":["MONDO:0001220","DOID:11199","EFO:0009451","UMLS:C0020626","MESH:D007011","MEDDRA:10021041","NCIT:C78350","SNOMEDCT:36976004","medgen:6985","icd11.foundation:1708733050","ICD10:E20","ICD9:252.1","HP:0000829"],"information_content":80.6}
{"id":"MONDO:0001221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal varices","equivalent_identifiers":["MONDO:0001221","DOID:112","EFO:0009545","UMLS:C0014849","UMLS:C0014867","UMLS:C0155791","UMLS:C0155792","MESH:D004932","MEDDRA:10015452","MEDDRA:10030209","MEDDRA:10030212","MEDDRA:10046984","MEDDRA:10056091","NCIT:C53506","SNOMEDCT:28670008","medgen:5027","ICD10:I85.01","ICD9:456.0","ICD9:456.2","ICD9:456.20","HP:0002040"],"information_content":92.8}
{"id":"MONDO:0001223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parathyroid gland disorder","equivalent_identifiers":["MONDO:0001223","DOID:11201","EFO:0005754","UMLS:C0030517","UMLS:C4025822","MESH:D010279","MEDDRA:10013251","MEDDRA:10013905","MEDDRA:10033942","MEDDRA:10033943","MEDDRA:10033949","MEDDRA:10045819","NCIT:C26844","SNOMEDCT:73132005","medgen:893009","ICD10:E21.5","ICD9:252.9","HP:0000828"],"information_content":73.3}
{"id":"MONDO:0001243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disseminated intravascular coagulation","equivalent_identifiers":["MONDO:0001243","DOID:11247","UMLS:C0012739","MESH:D004211","MEDDRA:10010785","MEDDRA:10010786","MEDDRA:10012126","MEDDRA:10012769","MEDDRA:10013442","NCIT:C131658","NCIT:C2992","SNOMEDCT:67406007","medgen:41620","icd11.foundation:1622289887","ICD9:286.6","HP:0005521"],"information_content":80.6}
{"id":"MONDO:0001244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin K deficiency hemorrhagic disease","equivalent_identifiers":["MONDO:0001244","DOID:11249","UMLS:C0042880","UMLS:C0272348","UMLS:C5139061","MESH:D014813","MEDDRA:10012136","MEDDRA:10047634","NCIT:C99108","SNOMEDCT:1286003","SNOMEDCT:52675005","medgen:543992","ICD10:E56.1","ICD9:269.0","HP:0011892"],"information_content":95.4}
{"id":"MONDO:0001245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcytic anemia","equivalent_identifiers":["MONDO:0001245","DOID:11252","UMLS:C0085576","UMLS:C5194182","MEDDRA:10002066","MEDDRA:10002299","MEDDRA:10027538","MEDDRA:10027539","NCIT:C35141","SNOMEDCT:234349007","medgen:1673948","icd11.foundation:1380406043","HP:0001935"],"information_content":83.6}
{"id":"MONDO:0001256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arteriovenous hemangioma/malformation","equivalent_identifiers":["MONDO:0001256","DOID:11294","UMLS:C0003857","UMLS:C0334533","UMLS:C5960017","MESH:D001165","MEDDRA:10000035","MEDDRA:10003186","MEDDRA:10003193","MEDDRA:10003229","MEDDRA:10019389","MEDDRA:10055898","NCIT:C2882","SNOMEDCT:233982006","SNOMEDCT:234141001","SNOMEDCT:24551003","SNOMEDCT:403966009","medgen:137780","ICD10:I77.0","HP:0100026"],"information_content":78.8}
{"id":"MONDO:0001266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erysipelas","equivalent_identifiers":["MONDO:0001266","DOID:11330","EFO:1001462","UMLS:C0014714","UMLS:C0014733","MESH:D004886","MEDDRA:10015124","MEDDRA:10015125","MEDDRA:10015145","SNOMEDCT:44653001","medgen:41855","icd11.foundation:1651247891","ICD10:A46","ICD9:035","HP:0001055"],"information_content":100.0}
{"id":"MONDO:0001268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gingival recession","equivalent_identifiers":["MONDO:0001268","DOID:1134","UMLS:C0017572","UMLS:C0266916","MESH:D005889","MEDDRA:10018290","MEDDRA:10065160","MEDDRA:10087929","NCIT:C82068","SNOMEDCT:4356008","SNOMEDCT:59898000","medgen:6607","icd11.foundation:1059404242","ICD10:K06.0","ICD10:K06.01","ICD9:523.2","ICD9:523.24","HP:0030816"],"information_content":100.0}
{"id":"MONDO:0001271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lens subluxation","equivalent_identifiers":["MONDO:0001271","DOID:11364","UMLS:C0023316","MESH:D007906","MEDDRA:10042408","NCIT:C34772","SNOMEDCT:65814009","medgen:9718","ICD10:H27.11","ICD9:379.32","HP:0001132"],"information_content":92.8}
{"id":"MONDO:0001275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal meningioma","equivalent_identifiers":["MONDO:0001275","DOID:1138","UMLS:C0347515","MEDDRA:10067793","NCIT:C6935","SNOMEDCT:189167009","medgen:87576","HP:0100010"],"information_content":100.0}
{"id":"MONDO:0001281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alternating exotropia","equivalent_identifiers":["MONDO:0001281","DOID:1142","UMLS:C0152207","MEDDRA:10001859","MEDDRA:10078353","SNOMEDCT:37214009","medgen:101825","icd11.foundation:1611093587","ICD10:H50.15","ICD9:378.15","HP:0031717"],"information_content":100.0}
{"id":"MONDO:0001286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exotropia","equivalent_identifiers":["MONDO:0001286","DOID:1143","UMLS:C0015310","MESH:D005099","MEDDRA:10013528","MEDDRA:10013529","MEDDRA:10015694","MEDDRA:10015695","NCIT:C34601","SNOMEDCT:399054005","SNOMEDCT:399252000","medgen:4613","icd11.foundation:2116859618","ICD10:H50.1","ICD9:378.1","HP:0000577"],"information_content":83.6}
{"id":"MONDO:0001294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Horner syndrome","equivalent_identifiers":["MONDO:0001294","DOID:11486","UMLS:C0019937","UMLS:C5779792","MESH:D006732","MEDDRA:10020392","NCIT:C28155","SNOMEDCT:12731000","SNOMEDCT:1281810006","SNOMEDCT:192915005","SNOMEDCT:271730003","medgen:5616","icd11.foundation:178756462","ICD10:G90.2","HP:0002277"],"information_content":95.4}
{"id":"MONDO:0001303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abnormal pupillary function","equivalent_identifiers":["MONDO:0001303","DOID:11518","UMLS:C0155376","UMLS:C0917967","SNOMEDCT:72124005","medgen:214629","ICD10:H57.09","ICD9:379.49","HP:0007686"],"information_content":83.6}
{"id":"MONDO:0001305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngostenosis","equivalent_identifiers":["MONDO:0001305","DOID:11527","UMLS:C0023075","MESH:D007829","MEDDRA:10023862","MEDDRA:10023863","MEDDRA:10041989","NCIT:C79608","SNOMEDCT:75547007","medgen:7274","ICD10:J38.6","ICD9:478.74","HP:0001602"],"information_content":95.4}
{"id":"MONDO:0001309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculomotor nerve paralysis","equivalent_identifiers":["MONDO:0001309","DOID:11550","orphanet:98685","UMLS:C0028866","UMLS:C1442863","UMLS:C1455809","MEDDRA:10011315","MEDDRA:10011316","MEDDRA:10021282","MEDDRA:10021283","MEDDRA:10030074","MEDDRA:10030076","MEDDRA:10043444","MEDDRA:10052885","MEDDRA:10054202","NCIT:C27597","SNOMEDCT:388980004","medgen:14459","ICD10:H49.0","HP:0012246"],"information_content":78.5}
{"id":"MONDO:0001314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pseudogout","equivalent_identifiers":["MONDO:0001314","DOID:1156","UMLS:C0033802","UMLS:C0157852","UMLS:C0553730","MESH:D002805","MEDDRA:10008687","MEDDRA:10008688","MEDDRA:10008689","MEDDRA:10008690","MEDDRA:10008691","MEDDRA:10008720","MEDDRA:10037121","MEDDRA:10061761","MEDDRA:10087753","NCIT:C34955","SNOMEDCT:201625003","SNOMEDCT:201637001","SNOMEDCT:239832006","SNOMEDCT:239838005","medgen:154303","icd11.foundation:2041797033","ICD9:712.1","HP:0000934"],"information_content":90.9}
{"id":"MONDO:0001328","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid hormone resistance syndrome","equivalent_identifiers":["MONDO:0001328","DOID:11633","UMLS:C2940786","UMLS:C5779944","MESH:D018382","MEDDRA:10090554","SNOMEDCT:111567006","SNOMEDCT:237559000","SNOMEDCT:237560005","SNOMEDCT:50375007","medgen:424854","HP:0002930"],"information_content":84.2}
{"id":"MONDO:0001339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"portal vein thrombosis","equivalent_identifiers":["MONDO:0001339","DOID:11695","UMLS:C0155773","MEDDRA:10036206","MEDDRA:10037611","MEDDRA:10043633","NCIT:C78565","SNOMEDCT:17920008","medgen:56372","icd11.foundation:866276949","ICD10:I81","ICD9:452","HP:0030242"],"information_content":100.0}
{"id":"MONDO:0001341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgA Deficiency","equivalent_identifiers":["MONDO:0001341","DOID:0060025","DOID:11701","EFO:1001929","UMLS:C0162538","UMLS:C0553533","UMLS:C4049006","MESH:D017098","MEDDRA:10011965","MEDDRA:10021259","MEDDRA:10021260","MEDDRA:10021472","MEDDRA:10021475","MEDDRA:10039915","NCIT:C26964","SNOMEDCT:190979003","SNOMEDCT:29260007","medgen:883982","HP:0002720"],"information_content":89.4}
{"id":"MONDO:0001342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysgammaglobulinemia","equivalent_identifiers":["MONDO:0001342","DOID:11702","UMLS:C0013374","MESH:D004406","SNOMEDCT:123782009","medgen:41679","HP:0002961"],"information_content":85.5}
{"id":"MONDO:0001347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facioscapulohumeral muscular dystrophy","equivalent_identifiers":["MONDO:0001347","DOID:11727","OMIM.PS:158900","orphanet:269","UMLS:C0238288","MESH:D020391","MEDDRA:10064087","NCIT:C84704","SNOMEDCT:399091004","medgen:65956","icd11.foundation:621965073","ICD10:G71.02"],"information_content":88.2}
{"id":"MONDO:0001356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iron deficiency anemia","equivalent_identifiers":["MONDO:0001356","DOID:11758","UMLS:C0008272","UMLS:C0029810","UMLS:C0162316","MESH:D018798","MEDDRA:10002062","MEDDRA:10002295","MEDDRA:10022972","MEDDRA:10022974","MEDDRA:10022977","MEDDRA:10053783","MEDDRA:10053784","MEDDRA:10055738","MEDDRA:10064647","MEDDRA:10064648","MEDDRA:10071378","MEDDRA:10071379","NCIT:C84484","SNOMEDCT:87522002","medgen:57668","ICD9:280.8","HP:0001891"],"information_content":100.0}
{"id":"MONDO:0001357","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypochromic anemia","equivalent_identifiers":["MONDO:0001357","DOID:11759","UMLS:C0002884","UMLS:C0271900","MESH:D000747","MEDDRA:10002060","MEDDRA:10002293","MEDDRA:10020969","MEDDRA:10020971","MEDDRA:10086859","MEDDRA:10086860","NCIT:C34380","SNOMEDCT:44452003","medgen:8065","ICD10:D50","HP:0001931"],"information_content":84.8}
{"id":"MONDO:0001370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pericardial effusion","equivalent_identifiers":["MONDO:0001370","DOID:118","UMLS:C0031039","MESH:D010490","MEDDRA:10014311","MEDDRA:10034474","NCIT:C3319","SNOMEDCT:373945007","medgen:10653","icd11.foundation:2002014072","HP:0001698"],"information_content":86.3}
{"id":"MONDO:0001384","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia","equivalent_identifiers":["MONDO:0001384","DOID:11830","OMIM.PS:160700","UMLS:C0027092","MESH:D009216","MEDDRA:10028651","MEDDRA:10040599","MEDDRA:10040601","MEDDRA:10057905","NCIT:C102533","SNOMEDCT:57190000","medgen:44558","icd11.foundation:1666440799","ICD10:H52.1","ICD9:367.1","HP:0000545"],"information_content":77.1}
{"id":"MONDO:0001389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital coronary artery anomaly","equivalent_identifiers":["MONDO:0001389","DOID:11843","UMLS:C0158623","MEDDRA:10010425","MEDDRA:10011072","MEDDRA:10061060","SNOMEDCT:28574005","medgen:510602","ICD9:746.85","HP:0006704"],"information_content":75.3}
{"id":"MONDO:0001397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mononeuropathy","equivalent_identifiers":["MONDO:0001397","DOID:1188","EFO:0009558","UMLS:C0494491","MESH:D020422","MEDDRA:10027917","MEDDRA:10027919","MEDDRA:10062203","SNOMEDCT:128189008","medgen:99214","icd11.foundation:1866592137","ICD10:G58.9","HP:0009831"],"information_content":80.2}
{"id":"MONDO:0001409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophagitis","equivalent_identifiers":["MONDO:0001409","DOID:11963","UMLS:C0014868","MESH:D004941","MEDDRA:10015461","MEDDRA:10015464","MEDDRA:10030216","MEDDRA:10030220","MEDDRA:10072772","MEDDRA:10082461","MEDDRA:10082467","NCIT:C9224","SNOMEDCT:16761005","medgen:4549","ICD10:K20","ICD9:530.1","HP:0100633"],"information_content":83.1}
{"id":"MONDO:0001414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteopoikilosis","equivalent_identifiers":["MONDO:0001414","DOID:11991","UMLS:C0029455","MESH:D010023","MEDDRA:10031281","NCIT:C84985","SNOMEDCT:9147009","medgen:45251","icd11.foundation:801926378","ICD10:Q78.8","ICD9:756.53","HP:0010739"],"information_content":95.4}
{"id":"MONDO:0001415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrophy of testis","equivalent_identifiers":["MONDO:0001415","DOID:11994","UMLS:C0156312","MEDDRA:10003711","MEDDRA:10003720","MEDDRA:10031059","MEDDRA:10043298","NCIT:C123259","SNOMEDCT:17585008","medgen:57626","icd11.foundation:1735709719","ICD10:N50.0","ICD9:608.3","HP:0000029"],"information_content":95.4}
{"id":"MONDO:0001422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Conn's syndrome","equivalent_identifiers":["MONDO:0001422","DOID:12028","UMLS:C1384514","MEDDRA:10010758","MEDDRA:10036692","NCIT:C34510","SNOMEDCT:190507007","SNOMEDCT:258117004","medgen:278002","ICD10:E26.01","ICD9:255.12","HP:0011736"],"information_content":84.8}
{"id":"MONDO:0001431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxic or nutritional optic neuropathy","equivalent_identifiers":["MONDO:0001431","DOID:1209","UMLS:C0155302","UMLS:C3887709","MEDDRA:10029860","MEDDRA:10030947","MEDDRA:10061323","NCIT:C118711","SNOMEDCT:82108004","medgen:509902","ICD10:H46.2","ICD9:377.33","HP:0001138"],"information_content":92.8}
{"id":"MONDO:0001437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary alveolar proteinosis","equivalent_identifiers":["MONDO:0001437","DOID:12120","UMLS:C0034050","UMLS:C5400698","MESH:D011649","MEDDRA:10001881","MEDDRA:10037316","NCIT:C85037","SNOMEDCT:10501004","medgen:1763046","icd11.foundation:1869739196","ICD10:J84.01","ICD9:516.0","HP:0006517"],"information_content":83.1}
{"id":"MONDO:0001439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Episcleritis","equivalent_identifiers":["MONDO:0001439","DOID:12124","UMLS:C0014583","UMLS:C0155351","MEDDRA:10015084","MEDDRA:10015085","MEDDRA:10015086","NCIT:C112189","SNOMEDCT:31166000","SNOMEDCT:815008","medgen:509926","icd11.foundation:2091821028","ICD10:H15.11","ICD9:379.01","HP:0100534"],"information_content":100.0}
{"id":"MONDO:0001441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pica disease","equivalent_identifiers":["MONDO:0001441","DOID:12128","UMLS:C0031873","MESH:D010842","MEDDRA:10035001","NCIT:C92566","SNOMEDCT:14077003","medgen:45917","ICD9:307.52","HP:0011856"],"information_content":95.4}
{"id":"MONDO:0001443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tympanosclerosis","equivalent_identifiers":["MONDO:0001443","DOID:1214","EFO:1001812","UMLS:C0155477","UMLS:C0395887","UMLS:C3494473","MESH:D000092163","MESH:D063371","MEDDRA:10045218","MEDDRA:10087692","SNOMEDCT:23606001","medgen:473094","icd11.foundation:28175464","ICD9:385.09","HP:0020123"],"information_content":100.0}
{"id":"MONDO:0001444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chagas disease","equivalent_identifiers":["MONDO:0001444","DOID:12140","orphanet:3386","EFO:0008559","UMLS:C0007932","UMLS:C0041234","MESH:D014355","MEDDRA:10001935","MEDDRA:10008384","MEDDRA:10044706","NCIT:C84629","SNOMEDCT:77506005","medgen:11935","icd11.foundation:1365585570","ICD10:B57.0","ICD10:B57.1","ICD10:B57.3","ICD10:B57.4","ICD10:B57.5","ICD9:086.2","KEGG.DISEASE:05142"],"information_content":95.4}
{"id":"MONDO:0001447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"detrusor sphincter dyssynergia","equivalent_identifiers":["MONDO:0001447","DOID:12145","UMLS:C0341747","MEDDRA:10012550","SNOMEDCT:236655005","medgen:574618","ICD9:596.55","HP:0025488"],"information_content":100.0}
{"id":"MONDO:0001451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral retinal degeneration","equivalent_identifiers":["MONDO:0001451","DOID:12161","UMLS:C1320640","MEDDRA:10034616","NCIT:C34919","SNOMEDCT:405721006","SNOMEDCT:61536007","medgen:232938","icd11.foundation:1518234440","ICD10:H35.4","ICD9:362.6","HP:0007769"],"information_content":87.2}
{"id":"MONDO:0001454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Blessig's cysts","equivalent_identifiers":["MONDO:0001454","DOID:12164","UMLS:C0154855","UMLS:C1839362","MEDDRA:10027537","SNOMEDCT:37075008","medgen:509686","ICD10:H35.42","ICD9:362.62","HP:0007667"],"information_content":100.0}
{"id":"MONDO:0001455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal lattice degeneration","equivalent_identifiers":["MONDO:0001455","DOID:12165","UMLS:C0154856","MEDDRA:10024040","SNOMEDCT:3577000","medgen:102321","ICD10:H35.41","ICD9:362.63","HP:0007992"],"information_content":100.0}
{"id":"MONDO:0001466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"punctate epithelial keratoconjunctivitis","equivalent_identifiers":["MONDO:0001466","DOID:12197","UMLS:C0259799","UMLS:C1562761","MEDDRA:10023338","MEDDRA:10037508","MEDDRA:10053772","SNOMEDCT:416069001","SNOMEDCT:416300008","SNOMEDCT:42513006","medgen:736733","ICD10:H16.14","ICD9:370.21","HP:0011859"],"information_content":100.0}
{"id":"MONDO:0001470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anal margin squamous cell carcinoma","equivalent_identifiers":["MONDO:0001470","DOID:12239","UMLS:C1412037","NCIT:C6925","SNOMEDCT:255084004","medgen:278071","ICD10:C44.520","HP:0030442"],"information_content":95.4}
{"id":"MONDO:0001475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutropenia","equivalent_identifiers":["MONDO:0001475","DOID:1227","UMLS:C0027947","UMLS:C0853697","MESH:D009503","MEDDRA:10029354","MEDDRA:10029355","MEDDRA:10029366","MEDDRA:10029369","MEDDRA:10029382","NCIT:C80520","SNOMEDCT:165517008","SNOMEDCT:303011007","medgen:163121","icd11.foundation:926492960","ICD9:288.0","HP:0001875"],"information_content":76.9}
{"id":"MONDO:0001476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma","equivalent_identifiers":["MONDO:0001476","DOID:12270","UMLS:C0009363","MESH:D003103","MEDDRA:10009934","MEDDRA:10009937","NCIT:C98877","SNOMEDCT:92828000","SNOMEDCT:93390002","medgen:1046","ICD10:Q13.0","HP:0000589"],"information_content":78.5}
{"id":"MONDO:0001478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anisometropia","equivalent_identifiers":["MONDO:0001478","DOID:12273","UMLS:C0003081","MESH:D015858","MEDDRA:10002537","SNOMEDCT:3289004","medgen:8099","icd11.foundation:386251928","ICD10:H52.31","ICD9:367.31","HP:0012803"],"information_content":100.0}
{"id":"MONDO:0001490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal granular dystrophy","equivalent_identifiers":["MONDO:0001490","DOID:12318","UMLS:C0018179","MEDDRA:10018673","NCIT:C34651","SNOMEDCT:45283008","medgen:42290","ICD10:H18.53","ICD9:371.53","HP:0007802"],"information_content":92.8}
{"id":"MONDO:0001498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"varicocele","equivalent_identifiers":["MONDO:0001498","DOID:12337","UMLS:C0042341","MESH:D014646","MEDDRA:10033566","MEDDRA:10039761","MEDDRA:10039762","MEDDRA:10046986","MEDDRA:10046992","SNOMEDCT:46871008","SNOMEDCT:51070004","medgen:22619","ICD10:I86.1","ICD9:456.4","HP:0012871"],"information_content":100.0}
{"id":"MONDO:0001515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal degeneration","equivalent_identifiers":["MONDO:0001515","DOID:1237","UMLS:C0155118","MEDDRA:10010996","MEDDRA:10010997","SNOMEDCT:111521006","medgen:56352","icd11.foundation:699504167","ICD10:H18.4","ICD9:371.4","HP:0007705"],"information_content":87.2}
{"id":"MONDO:0001516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy","equivalent_identifiers":["MONDO:0001516","DOID:12377","EFO:0008525","UMLS:C0026847","MESH:D009134","MEDDRA:10041582","MEDDRA:10041583","MEDDRA:10051207","NCIT:C85075","SNOMEDCT:5262007","medgen:7755","icd11.foundation:71074342","ICD10:G12.9","ICD9:335.1","HP:0007269"],"information_content":72.2}
{"id":"MONDO:0001519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"entropion","equivalent_identifiers":["MONDO:0001519","DOID:12397","UMLS:C0014390","MESH:D004774","MEDDRA:10014924","MEDDRA:10014926","MEDDRA:10061842","SNOMEDCT:33168009","medgen:41813","ICD9:374.00","HP:0000621"],"information_content":85.5}
{"id":"MONDO:0001529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancytopenia","equivalent_identifiers":["MONDO:0001529","DOID:12450","UMLS:C0030312","MESH:D010198","MEDDRA:10033661","NCIT:C34889","NCIT:C80693","SNOMEDCT:127034005","medgen:18281","ICD10:D61.81","ICD9:284.1","HP:0001876"],"information_content":71.2}
{"id":"MONDO:0001531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blood coagulation disease","equivalent_identifiers":["MONDO:0001531","DOID:1247","EFO:0009314","UMLS:C0005779","MESH:D001778","MEDDRA:10009731","MEDDRA:10009734","MEDDRA:10009802","MEDDRA:10012116","MEDDRA:10013206","MEDDRA:10053567","MEDDRA:10064732","NCIT:C2902","SNOMEDCT:362970003","SNOMEDCT:64779008","medgen:604","ICD10:D68.9","ICD9:286","HP:0003256"],"information_content":66.4}
{"id":"MONDO:0001539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal break","equivalent_identifiers":["MONDO:0001539","DOID:12514","EFO:0010698","UMLS:C0035321","MESH:D012167","MEDDRA:10038897","MEDDRA:10066422","NCIT:C50732","SNOMEDCT:1275615004","SNOMEDCT:232003005","SNOMEDCT:95690009","medgen:48435","HP:0011958"],"information_content":90.9}
{"id":"MONDO:0001549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic-uremic syndrome","equivalent_identifiers":["MONDO:0001549","DOID:12554","orphanet:544458","UMLS:C0019061","MESH:D006463","MEDDRA:10018932","MEDDRA:10018933","MEDDRA:10019515","MEDDRA:10019516","MEDDRA:10042814","MEDDRA:10060422","NCIT:C75545","SNOMEDCT:111407006","medgen:42403","ICD10:D59.3","ICD9:283.11","HP:0005575"],"information_content":81.3}
{"id":"MONDO:0001552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyscalculia","equivalent_identifiers":["MONDO:0001552","DOID:12568","UMLS:C0869474","UMLS:C1411876","UMLS:C4280576","MESH:D060705","MEDDRA:10012555","MEDDRA:10041425","MEDDRA:10049669","NCIT:C97165","SNOMEDCT:47916000","SNOMEDCT:55640002","medgen:452779","icd11.foundation:308101648","HP:0002442"],"information_content":100.0}
{"id":"MONDO:0001556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urethral obstruction","equivalent_identifiers":["MONDO:0001556","DOID:12577","UMLS:C0041972","MESH:D014524","MEDDRA:10046459","NCIT:C79804","SNOMEDCT:95588004","medgen:12015","HP:0000796"],"information_content":84.2}
{"id":"MONDO:0001561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyloric stenosis","equivalent_identifiers":["MONDO:0001561","DOID:12639","DOID:3122","EFO:0009626","EFO:1000947","UMLS:C0034194","UMLS:C0162651","UMLS:C1541124","MESH:D011707","MESH:D017219","MEDDRA:10029968","MEDDRA:10037621","MEDDRA:10037624","MEDDRA:10041994","MEDDRA:10062499","NCIT:C34966","SNOMEDCT:244815007","SNOMEDCT:367403001","medgen:18780","ICD10:K31.1","HP:0002021"],"information_content":84.8}
{"id":"MONDO:0001566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercalcemia","equivalent_identifiers":["MONDO:0001566","DOID:12678","UMLS:C0020437","UMLS:C5700155","UMLS:C5769292","MESH:D006934","MEDDRA:10005396","MEDDRA:10006952","MEDDRA:10020583","MEDDRA:10020587","NCIT:C3112","SNOMEDCT:166702002","SNOMEDCT:66931009","medgen:5686","ICD10:E83.52","ICD9:275.42","HP:0003072"],"information_content":80.2}
{"id":"MONDO:0001567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrocalcinosis","equivalent_identifiers":["MONDO:0001567","DOID:12679","UMLS:C0027709","UMLS:C4280679","MESH:D009397","MEDDRA:10006939","MEDDRA:10029146","MEDDRA:10083509","NCIT:C84918","SNOMEDCT:48638002","medgen:10222","icd11.foundation:1359282431","HP:0000121"],"information_content":89.4}
{"id":"MONDO:0001569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acoustic neuroma","equivalent_identifiers":["MONDO:0001569","DOID:12689","orphanet:252175","UMLS:C0027859","MESH:D009464","MEDDRA:10000522","MEDDRA:10000523","MEDDRA:10048925","MEDDRA:10083886","NCIT:C3276","SNOMEDCT:126949007","medgen:45062","icd11.foundation:480288993","HP:0009588"],"information_content":92.8}
{"id":"MONDO:0001571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gynecomastia","equivalent_identifiers":["MONDO:0001571","DOID:12698","UMLS:C0018418","MESH:D006177","MEDDRA:10006244","MEDDRA:10014844","MEDDRA:10018800","MEDDRA:10018801","NCIT:C3073","SNOMEDCT:4754008","medgen:6694","HP:0000771"],"information_content":83.6}
{"id":"MONDO:0001576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"telangiectasis","equivalent_identifiers":["MONDO:0001576","DOID:1272","UMLS:C0039446","UMLS:C1138421","MESH:D013684","MEDDRA:10043189","MEDDRA:10043193","MEDDRA:10062696","MEDDRA:10068846","NCIT:C28194","SNOMEDCT:112641009","SNOMEDCT:247479008","medgen:21088","HP:0001009"],"information_content":76.4}
{"id":"MONDO:0001582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cicatricial ectropion","equivalent_identifiers":["MONDO:0001582","DOID:12782","UMLS:C0155196","MEDDRA:10009173","SNOMEDCT:28914006","medgen:102327","ICD9:374.14","HP:0025608"],"information_content":100.0}
{"id":"MONDO:0001586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 1","equivalent_identifiers":["MONDO:0001586","DOID:12802","orphanet:579","UMLS:C0023786","MESH:D008059","MEDDRA:10056886","NCIT:C85053","SNOMEDCT:75610003","medgen:44171","icd11.foundation:1539226250"],"information_content":88.2}
{"id":"MONDO:0001590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"quadriplegia","equivalent_identifiers":["MONDO:0001590","DOID:12835","EFO:0009684","UMLS:C0034372","MESH:D011782","MEDDRA:10037714","MEDDRA:10037719","MEDDRA:10043385","NCIT:C50721","SNOMEDCT:11538006","medgen:19617","ICD10:G82.5","ICD9:344.00","HP:0002445"],"information_content":95.4}
{"id":"MONDO:0001595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chorea","equivalent_identifiers":["MONDO:0001595","DOID:12859","orphanet:1429","EFO:0004152","UMLS:C0008489","UMLS:C4020858","MESH:D002819","MEDDRA:10008748","MEDDRA:10008750","MEDDRA:10008752","MEDDRA:10082995","NCIT:C84633","SNOMEDCT:230298007","SNOMEDCT:230306001","SNOMEDCT:271700006","medgen:3420","icd11.foundation:829618737","HP:0002072"],"information_content":84.2}
{"id":"MONDO:0001603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paralytic lagophthalmos","equivalent_identifiers":["MONDO:0001603","DOID:12958","UMLS:C0155197","MEDDRA:10033842","SNOMEDCT:59890007","medgen:509844","icd11.foundation:2122617367","ICD10:H02.23","ICD9:374.21","HP:0030003"],"information_content":100.0}
{"id":"MONDO:0001604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lagophthalmos","equivalent_identifiers":["MONDO:0001604","DOID:12959","UMLS:C0152226","UMLS:C4022680","MESH:D000092164","MEDDRA:10023683","MEDDRA:10023684","SNOMEDCT:60735000","medgen:57517","icd11.foundation:1200365909","ICD10:H02.2","ICD9:374.2","HP:0030001"],"information_content":90.9}
{"id":"MONDO:0001609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agranulocytosis","equivalent_identifiers":["MONDO:0001609","DOID:12987","UMLS:C0001824","UMLS:C4551627","MESH:D000380","MEDDRA:10001507","MEDDRA:10018687","NCIT:C2863","SNOMEDCT:17182001","SNOMEDCT:417672002","medgen:7932","icd11.foundation:1913706366","HP:0001913"],"information_content":68.2}
{"id":"MONDO:0001612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carotid stenosis","equivalent_identifiers":["MONDO:0001612","DOID:13001","UMLS:C0007282","MESH:D016893","MEDDRA:10007687","NCIT:C95804","SNOMEDCT:64586002","medgen:785","HP:0100546"],"information_content":100.0}
{"id":"MONDO:0001617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient global amnesia","equivalent_identifiers":["MONDO:0001617","DOID:13027","UMLS:C0338591","MESH:D020236","MEDDRA:10044380","NCIT:C85198","SNOMEDCT:230736007","medgen:83275","icd11.foundation:1524600518","ICD10:G45.4","ICD9:437.7","HP:0010534"],"information_content":100.0}
{"id":"MONDO:0001623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cicatricial lagophthalmos","equivalent_identifiers":["MONDO:0001623","DOID:13038","UMLS:C0155199","MEDDRA:10009175","SNOMEDCT:9042000","medgen:509846","icd11.foundation:1868697470","ICD10:H02.21","ICD9:374.23","HP:0030004"],"information_content":100.0}
{"id":"MONDO:0001627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dementia","equivalent_identifiers":["MONDO:0001627","DOID:1307","UMLS:C0154319","UMLS:C0497327","MESH:D003704","MEDDRA:10001933","MEDDRA:10012267","MEDDRA:10012290","NCIT:C4786","SNOMEDCT:52448006","medgen:99229","icd11.foundation:546689346","ICD9:290.8","HP:0000726"],"information_content":64.9}
{"id":"MONDO:0001628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea unguium","equivalent_identifiers":["MONDO:0001628","DOID:13074","UMLS:C0007644","UMLS:C0040261","MESH:D014009","MEDDRA:10017535","MEDDRA:10028699","MEDDRA:10030338","MEDDRA:10039188","MEDDRA:10043874","NCIT:C112214","SNOMEDCT:414941008","medgen:11825","ICD9:681.9","HP:0012203"],"information_content":100.0}
{"id":"MONDO:0001630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branch retinal artery occlusion","equivalent_identifiers":["MONDO:0001630","DOID:13094","UMLS:C0006123","MEDDRA:10038822","NCIT:C34436","SNOMEDCT:50821009","medgen:14217","ICD10:H34.23","ICD9:362.32","HP:0020161"],"information_content":100.0}
{"id":"MONDO:0001633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central retinal artery occlusion","equivalent_identifiers":["MONDO:0001633","DOID:13098","orphanet:648684","UMLS:C0007688","MEDDRA:10007971","NCIT:C34456","SNOMEDCT:38742007","medgen:40177","icd11.foundation:613330234","ICD10:H34.1","ICD9:362.31","HP:0025342"],"information_content":100.0}
{"id":"MONDO:0001645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"crescentic glomerulonephritis","equivalent_identifiers":["MONDO:0001645","DOID:13139","UMLS:C0403416","MEDDRA:10011379","NCIT:C128143","NCIT:C35444","SNOMEDCT:236398000","medgen:96040","HP:0008653"],"information_content":95.4}
{"id":"MONDO:0001648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal candidiasis","equivalent_identifiers":["MONDO:0001648","DOID:13146","UMLS:C0239295","MEDDRA:10007137","MEDDRA:10007139","MEDDRA:10007150","MEDDRA:10007161","MEDDRA:10015364","MEDDRA:10015365","MEDDRA:10030153","MEDDRA:10030154","MEDDRA:10056094","MEDDRA:10065047","MEDDRA:10065056","MEDDRA:10072014","MEDDRA:10072015","MEDDRA:10072016","NCIT:C27027","SNOMEDCT:20639004","medgen:66784","ICD10:B37.81","ICD9:112.84","HP:0033351"],"information_content":100.0}
{"id":"MONDO:0001673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diarrhea","equivalent_identifiers":["MONDO:0001673","DOID:13250","UMLS:C0011991","UMLS:C1290807","MESH:D003967","MEDDRA:10012727","MEDDRA:10012732","MEDDRA:10012735","MEDDRA:10012745","MEDDRA:10087970","MEDDRA:10087971","NCIT:C2987","SNOMEDCT:128333008","SNOMEDCT:267060006","SNOMEDCT:62315008","medgen:713159","HP:0002014"],"information_content":63.5}
{"id":"MONDO:0001684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exocrine pancreatic insufficiency","equivalent_identifiers":["MONDO:0001684","DOID:13316","UMLS:C0030293","UMLS:C0267963","MESH:D010188","MEDDRA:10022465","MEDDRA:10033628","MEDDRA:10073392","MEDDRA:10079281","NCIT:C84316","SNOMEDCT:37992001","SNOMEDCT:47367009","medgen:75647","ICD10:K86.81","HP:0001738"],"information_content":95.4}
{"id":"MONDO:0001697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dyslexia","equivalent_identifiers":["MONDO:0001697","DOID:13365","UMLS:C0154631","UMLS:C0476254","UMLS:C0920296","MEDDRA:10012564","MEDDRA:10012569","MEDDRA:10012570","MEDDRA:10013932","SNOMEDCT:192138007","SNOMEDCT:52824009","SNOMEDCT:59770006","ICD9:315.09","HP:0010522"],"information_content":83.1}
{"id":"MONDO:0001700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megaloblastic anemia","equivalent_identifiers":["MONDO:0001700","DOID:13382","UMLS:C0002888","MESH:D000749","MEDDRA:10002065","MEDDRA:10002298","MEDDRA:10027128","MEDDRA:10027129","MEDDRA:10074044","NCIT:C34382","SNOMEDCT:53165003","medgen:1527","ICD10:D53.1","HP:0001889"],"information_content":83.6}
{"id":"MONDO:0001703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"color blindness","equivalent_identifiers":["MONDO:0001703","DOID:13399","orphanet:98658","UMLS:C0009398","UMLS:C0234629","UMLS:C0242225","UMLS:C3552853","UMLS:C4229565","UMLS:C5681659","MESH:D003117","MEDDRA:10005172","MEDDRA:10005173","MEDDRA:10010016","MEDDRA:10010017","MEDDRA:10010050","MEDDRA:10010052","MEDDRA:10012122","MEDDRA:10055520","NCIT:C3891","SNOMEDCT:193683001","SNOMEDCT:23289000","SNOMEDCT:367469000","medgen:1826147","ICD10:H53.5","ICD9:368.5","HP:0000551"],"information_content":80.9}
{"id":"MONDO:0001705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pure red-cell aplasia","equivalent_identifiers":["MONDO:0001705","DOID:1340","UMLS:C0034902","MESH:D012010","MEDDRA:10002965","MEDDRA:10002966","MEDDRA:10038184","NCIT:C34974","SNOMEDCT:50715003","medgen:11154","HP:0012410"],"information_content":78.8}
{"id":"MONDO:0001711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatic encephalopathy","equivalent_identifiers":["MONDO:0001711","DOID:13413","UMLS:C0019151","MESH:D006501","MEDDRA:10014630","MEDDRA:10019660","NCIT:C79596","SNOMEDCT:13920009","SNOMEDCT:449902003","medgen:5513","icd11.foundation:1769383160","ICD10:K76.82","ICD9:572.2","HP:0002480"],"information_content":95.4}
{"id":"MONDO:0001712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alexia","equivalent_identifiers":["MONDO:0001712","DOID:13417","UMLS:C0002018","UMLS:C0013388","MESH:D004411","MEDDRA:10001663","SNOMEDCT:9236007","medgen:1809","icd11.foundation:262295178","ICD9:315.01","HP:0010523"],"information_content":100.0}
{"id":"MONDO:0001718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scleritis","equivalent_identifiers":["MONDO:0001718","DOID:13452","UMLS:C0036416","MESH:D015423","MEDDRA:10039705","MEDDRA:10039707","MEDDRA:10039709","NCIT:C119046","SNOMEDCT:78370002","medgen:48585","icd11.foundation:2097802831","ICD10:H15.0","ICD9:379.00","HP:0100532"],"information_content":83.6}
{"id":"MONDO:0001741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperparathyroidism","equivalent_identifiers":["MONDO:0001741","DOID:13543","EFO:0008506","UMLS:C0020502","MESH:D006961","MEDDRA:10020705","MEDDRA:10020706","NCIT:C48259","SNOMEDCT:66999008","medgen:6967","icd11.foundation:9633776","ICD10:E21.3","ICD9:252.0","HP:0000843"],"information_content":79.3}
{"id":"MONDO:0001746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic disk drusen","equivalent_identifiers":["MONDO:0001746","DOID:13561","UMLS:C0029128","MESH:D015594","MEDDRA:10030917","SNOMEDCT:33629003","medgen:14495","ICD10:H47.32","ICD9:377.21","HP:0012426"],"information_content":100.0}
{"id":"MONDO:0001751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholestasis","equivalent_identifiers":["MONDO:0001751","DOID:13580","UMLS:C0008370","MESH:D002779","MEDDRA:10004620","MEDDRA:10004673","MEDDRA:10008635","MEDDRA:10029961","MEDDRA:10056375","NCIT:C83006","SNOMEDCT:197446008","SNOMEDCT:30144000","SNOMEDCT:33688009","medgen:925","ICD10:K83.1","ICD9:576.2","HP:0001396"],"information_content":76.7}
{"id":"MONDO:0001754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eclampsia","equivalent_identifiers":["MONDO:0001754","DOID:13593","UMLS:C0013537","UMLS:C0156678","MESH:D004461","MEDDRA:10014129","MEDDRA:10014133","NCIT:C87167","SNOMEDCT:15938005","SNOMEDCT:303063000","medgen:4443","icd11.foundation:1759760659","ICD10:O15","HP:0100601"],"information_content":100.0}
{"id":"MONDO:0001767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stenosis of lacrimal punctum","equivalent_identifiers":["MONDO:0001767","DOID:13653","UMLS:C0155244","MEDDRA:10041987","SNOMEDCT:74783009","medgen:509869","ICD10:H04.56","ICD9:375.52","HP:0025572"],"information_content":100.0}
{"id":"MONDO:0001776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prostatic Stone","equivalent_identifiers":["MONDO:0001776","DOID:13689","UMLS:C0149525","MEDDRA:10007017","MEDDRA:10007019","MEDDRA:10036945","NCIT:C26936","SNOMEDCT:85324003","medgen:57431","ICD10:N42.0","ICD9:602.0","HP:0034882"],"information_content":100.0}
{"id":"MONDO:0001793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Epiphora","equivalent_identifiers":["MONDO:0001793","DOID:13757","UMLS:C0152227","MEDDRA:10015068","MEDDRA:10015071","MEDDRA:10015591","MEDDRA:10023644","NCIT:C50552","SNOMEDCT:193982009","SNOMEDCT:418035005","medgen:57518","ICD10:H04.2","ICD9:375.2","HP:0009926"],"information_content":88.2}
{"id":"MONDO:0001795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plantar wart","equivalent_identifiers":["MONDO:0001795","DOID:13775","EFO:1002023","UMLS:C0042548","MEDDRA:10035158","NCIT:C26913","SNOMEDCT:1296907001","SNOMEDCT:63440008","medgen:53003","ICD10:B07.0","ICD9:078.12","HP:0033005"],"information_content":100.0}
{"id":"MONDO:0001801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"staphyloma posticum","equivalent_identifiers":["MONDO:0001801","DOID:13789","UMLS:C0155360","MEDDRA:10041952","SNOMEDCT:87819007","medgen:509934","icd11.foundation:382453603","ICD10:H15.83","ICD9:379.12","HP:0030856"],"information_content":100.0}
{"id":"MONDO:0001823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sick sinus syndrome","equivalent_identifiers":["MONDO:0001823","DOID:13884","UMLS:C0037052","MESH:D012804","MEDDRA:10040639","MEDDRA:10042845","NCIT:C62244","SNOMEDCT:36083008","medgen:20749","icd11.foundation:1682594333","ICD10:I49.5","HP:0011704"],"information_content":87.2}
{"id":"MONDO:0001824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyneuropathy","equivalent_identifiers":["MONDO:0001824","DOID:1389","EFO:0009562","UMLS:C0152025","UMLS:C0751449","MESH:D011115","MEDDRA:10036105","MEDDRA:10036118","NCIT:C26951","SNOMEDCT:42345000","medgen:57502","icd11.foundation:58868923","HP:0001271"],"information_content":79.9}
{"id":"MONDO:0001831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"irregular astigmatism","equivalent_identifiers":["MONDO:0001831","DOID:13919","UMLS:C0152194","MEDDRA:10022990","SNOMEDCT:47099006","medgen:508922","icd11.foundation:1086387343","ICD10:H52.21","ICD9:367.22","HP:0031792"],"information_content":100.0}
{"id":"MONDO:0001833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lacrimal duct obstruction","equivalent_identifiers":["MONDO:0001833","DOID:13929","UMLS:C0022906","UMLS:C1281931","MESH:D007767","MEDDRA:10023622","MEDDRA:10023626","NCIT:C34757","SNOMEDCT:246865000","SNOMEDCT:314022009","SNOMEDCT:416920000","medgen:226915","HP:0000579"],"information_content":90.9}
{"id":"MONDO:0001835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Facial Paresis","equivalent_identifiers":["MONDO:0001835","DOID:13934","UMLS:C0015469","UMLS:C0427055","MESH:D005158","MEDDRA:10016044","MEDDRA:10016060","MEDDRA:10016062","MEDDRA:10033808","MEDDRA:10051267","MEDDRA:10051271","MEDDRA:10051272","MEDDRA:10082051","NCIT:C78290","SNOMEDCT:280816001","SNOMEDCT:95666008","medgen:5101","HP:0007209"],"information_content":89.4}
{"id":"MONDO:0001836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amenorrhea","equivalent_identifiers":["MONDO:0001836","DOID:13938","EFO:0010269","UMLS:C0002453","UMLS:C2219717","MESH:D000568","MEDDRA:10000326","MEDDRA:10001927","MEDDRA:10001928","MEDDRA:10001929","MEDDRA:10027319","NCIT:C61443","SNOMEDCT:14302001","medgen:8016","ICD10:N91.2","ICD9:626.0","HP:0000141"],"information_content":80.9}
{"id":"MONDO:0001855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rubeosis iridis","equivalent_identifiers":["MONDO:0001855","DOID:14000","UMLS:C0154916","MEDDRA:10039291","MEDDRA:10065627","MEDDRA:10065630","SNOMEDCT:51995000","medgen:488789","ICD10:H21.1","ICD9:364.42","HP:0011497"],"information_content":100.0}
{"id":"MONDO:0001867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phaeohyphomycosis","equivalent_identifiers":["MONDO:0001867","DOID:14049","UMLS:C0276721","MESH:D060446","MEDDRA:10021807","MEDDRA:10034799","MEDDRA:10080481","MEDDRA:10080815","SNOMEDCT:47158003","medgen:452374","icd11.foundation:547567937","HP:6000031"],"information_content":100.0}
{"id":"MONDO:0001868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary angle-closure glaucoma","equivalent_identifiers":["MONDO:0001868","DOID:1405","EFO:1001506","UMLS:C0017606","MEDDRA:10036675","MEDDRA:10036676","SNOMEDCT:392288006","medgen:42225","ICD10:H40.2","ICD9:365.2","HP:0012109"],"information_content":88.2}
{"id":"MONDO:0001876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal artery atheroma","equivalent_identifiers":["MONDO:0001876","DOID:14092","UMLS:C0155734","MEDDRA:10003616","MEDDRA:10038375","NCIT:C197846","SNOMEDCT:45281005","medgen:510062","ICD10:I70.1","ICD9:440.1","HP:0031684"],"information_content":100.0}
{"id":"MONDO:0001881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"septic shock","equivalent_identifiers":["MONDO:0001881","DOID:14115","orphanet:36234","EFO:0006834","UMLS:C0036983","UMLS:C0600327","MESH:D012772","MEDDRA:10040070","MEDDRA:10040580","MEDDRA:10042852","MEDDRA:10044248","MEDDRA:10044249","NCIT:C35018","NCIT:C35498","SNOMEDCT:18504008","SNOMEDCT:76571007","medgen:109414","icd11.foundation:114886962","ICD10:A48.3","ICD9:040.82","ICD9:785.52"],"information_content":92.8}
{"id":"MONDO:0001896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obstructive hydrocephalus","equivalent_identifiers":["MONDO:0001896","DOID:14159","UMLS:C0270717","UMLS:C0549423","MEDDRA:10020516","MEDDRA:10029981","MEDDRA:10076690","NCIT:C116347","SNOMEDCT:230746009","SNOMEDCT:82346000","medgen:108198","ICD10:G91.1","ICD9:331.4","HP:0010953"],"information_content":100.0}
{"id":"MONDO:0001898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroid disease","equivalent_identifiers":["MONDO:0001898","DOID:1417","UMLS:C0008521","UMLS:C1263862","UMLS:C4025836","MESH:D015862","MEDDRA:10045776","NCIT:C34468","SNOMEDCT:128468007","medgen:892839","ICD10:H31.9","ICD9:363.9","HP:0000610"],"information_content":74.5}
{"id":"MONDO:0001909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubular acidosis","equivalent_identifiers":["MONDO:0001909","DOID:14219","UMLS:C0001126","UMLS:C1578594","MESH:D000141","MEDDRA:10000494","MEDDRA:10038353","MEDDRA:10038535","NCIT:C28129","SNOMEDCT:1776003","medgen:90","icd11.foundation:1272869150","ICD10:N25.89","HP:0001947"],"information_content":86.3}
{"id":"MONDO:0001910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ochronosis","equivalent_identifiers":["MONDO:0001910","DOID:14223","UMLS:C0028817","UMLS:C0268493","MESH:D009794","MEDDRA:10051253","NCIT:C84938","SNOMEDCT:39838007","SNOMEDCT:410042009","medgen:45177","ICD10:E70.29","HP:0030764"],"information_content":92.8}
{"id":"MONDO:0001911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tracheal calcification","equivalent_identifiers":["MONDO:0001911","DOID:14224","UMLS:C0264324","MEDDRA:10051880","NCIT:C35314","SNOMEDCT:81089005","medgen:75539","HP:0002787"],"information_content":100.0}
{"id":"MONDO:0001913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligospermia","equivalent_identifiers":["MONDO:0001913","DOID:14228","UMLS:C0028960","UMLS:C0868910","MESH:D009845","MEDDRA:10030300","MEDDRA:10030301","MEDDRA:10079294","NCIT:C34860","SNOMEDCT:88311004","medgen:18162","icd11.foundation:1497721709","ICD10:N46.1","ICD9:606.1","HP:0000798"],"information_content":88.2}
{"id":"MONDO:0001915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orbital cyst","equivalent_identifiers":["MONDO:0001915","DOID:14233","UMLS:C0155285","MEDDRA:10031037","MEDDRA:10031038","SNOMEDCT:31021007","medgen:56359","icd11.foundation:1244231313","ICD10:H05.81","ICD9:376.81","HP:0001144"],"information_content":95.4}
{"id":"MONDO:0001919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystoid macular retinal degeneration","equivalent_identifiers":["MONDO:0001919","DOID:14245","UMLS:C0154850","MEDDRA:10011811","SNOMEDCT:14046000","medgen:472900","ICD10:H35.35","ICD9:362.53","HP:0008028"],"information_content":100.0}
{"id":"MONDO:0001927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary valve insufficiency","equivalent_identifiers":["MONDO:0001927","DOID:14265","UMLS:C0034088","UMLS:C2882248","MESH:D011665","MEDDRA:10037408","MEDDRA:10037448","MEDDRA:10051697","MEDDRA:10052842","NCIT:C50848","NCIT:C62436","SNOMEDCT:194995005","SNOMEDCT:91434003","medgen:11031","icd11.foundation:1093888988","HP:0010444"],"information_content":95.4}
{"id":"MONDO:0001935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurogenic arthropathy","equivalent_identifiers":["MONDO:0001935","DOID:14286","EFO:1001378","UMLS:C0003892","MESH:D001177","MEDDRA:10003375","MEDDRA:10008408","MEDDRA:10008410","MEDDRA:10029326","SNOMEDCT:359554008","SNOMEDCT:67536000","medgen:13919","ICD10:M14.6","ICD9:713.5","HP:0002821"],"information_content":100.0}
{"id":"MONDO:0001941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blindness","equivalent_identifiers":["MONDO:0001941","DOID:1432","UMLS:C0155020","UMLS:C0271215","UMLS:C0456909","MESH:D001766","MEDDRA:10005161","MEDDRA:10005169","MEDDRA:10005180","NCIT:C97109","SNOMEDCT:105597003","SNOMEDCT:65956007","medgen:99138","ICD10:H54","ICD9:369","HP:0000618"],"information_content":73.8}
{"id":"MONDO:0001945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postencephalitic Parkinson disease","equivalent_identifiers":["MONDO:0001945","DOID:14332","orphanet:97349","EFO:1001402","UMLS:C0030568","MESH:D010301","MEDDRA:10034013","NCIT:C34898","SNOMEDCT:19972008","medgen:10591","ICD10:G21.3"],"information_content":100.0}
{"id":"MONDO:0001953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyuria","equivalent_identifiers":["MONDO:0001953","DOID:1439","UMLS:C0034359","UMLS:C0555120","MESH:D011776","MEDDRA:10037686","MEDDRA:10046621","MEDDRA:10046666","MEDDRA:10046684","MEDDRA:10046685","MEDDRA:10047964","MEDDRA:10047967","MEDDRA:10050791","MEDDRA:10081083","NCIT:C119028","SNOMEDCT:271350002","SNOMEDCT:275741008","SNOMEDCT:275765006","SNOMEDCT:4800001","medgen:11078","icd11.foundation:2000630356","ICD10:R82.81","HP:0012085"],"information_content":92.8}
{"id":"MONDO:0001956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Capillary leak","equivalent_identifiers":["MONDO:0001956","DOID:14400","orphanet:188","EFO:1001284","UMLS:C0343084","UMLS:C1382398","MESH:D019559","MEDDRA:10007196","MEDDRA:10007200","MEDDRA:10034694","MEDDRA:10068429","NCIT:C62578","SNOMEDCT:1608005","SNOMEDCT:87730004","medgen:137987","HP:0030005"],"information_content":100.0}
{"id":"MONDO:0001967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gonadal dysgenesis","equivalent_identifiers":["MONDO:0001967","DOID:14447","UMLS:C0018051","UMLS:C0687149","MESH:D006059","MEDDRA:10018504","MEDDRA:10018505","NCIT:C61420","SNOMEDCT:205681004","SNOMEDCT:95219002","medgen:9075","ICD9:758.6","HP:0000133"],"information_content":76.9}
{"id":"MONDO:0001989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Smooth tongue","equivalent_identifiers":["MONDO:0001989","DOID:1453","UMLS:C0155964","UMLS:C4280381","UMLS:C4280382","UMLS:C4280383","MEDDRA:10003712","MEDDRA:10043970","MEDDRA:10069085","SNOMEDCT:9491003","medgen:510156","ICD10:K14.4","ICD9:529.4","HP:0010298"],"information_content":95.4}
{"id":"MONDO:0002009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"major depressive disorder","equivalent_identifiers":["MONDO:0002009","DOID:1470","OMIM:608516","EFO:0003761","UMLS:C0024517","UMLS:C0041696","UMLS:C0154409","UMLS:C1269683","MESH:D003865","MEDDRA:10025453","MEDDRA:10025454","MEDDRA:10025463","MEDDRA:10025471","MEDDRA:10045543","MEDDRA:10045544","MEDDRA:10057840","MEDDRA:10081270","NCIT:C195908","NCIT:C34796","NCIT:C35094","SNOMEDCT:268621008","SNOMEDCT:36923009","SNOMEDCT:370143000","SNOMEDCT:66344007","medgen:266123","ICD10:F32","ICD10:F33.9","ICD9:296.2","ICD9:296.3"],"information_content":88.2}
{"id":"MONDO:0002012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic acidemia","equivalent_identifiers":["MONDO:0002012","DOID:14749","OMIM.PS:251000","UMLS:C0268583","MESH:C537358","MEDDRA:10088602","MEDDRA:10088603","NCIT:C98986","SNOMEDCT:42393006","medgen:120654","HP:0002912"],"information_content":80.6}
{"id":"MONDO:0002013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphangioma","equivalent_identifiers":["MONDO:0002013","DOID:1475","orphanet:2415","UMLS:C0024221","MESH:D008202","MEDDRA:10025219","MEDDRA:10025220","NCIT:C8965","SNOMEDCT:253057002","SNOMEDCT:254836000","SNOMEDCT:400178008","SNOMEDCT:69044001","medgen:6153","ICD10:D18.1","ICD9:228.1","HP:0100764"],"information_content":79.6}
{"id":"MONDO:0002017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"olivopontocerebellar atrophy","equivalent_identifiers":["MONDO:0002017","DOID:14784","UMLS:C0028968","MESH:D009849","MEDDRA:10057652","NCIT:C84947","SNOMEDCT:67761004","medgen:10435","icd11.foundation:1467584080","HP:0002542"],"information_content":100.0}
{"id":"MONDO:0002028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"personality disorder","equivalent_identifiers":["MONDO:0002028","DOID:1510","UMLS:C0029707","UMLS:C0031212","MESH:D010554","MEDDRA:10013256","MEDDRA:10034721","MEDDRA:10034722","MEDDRA:10046097","NCIT:C34922","SNOMEDCT:33449004","medgen:45827","icd11.foundation:941859884","ICD10:F60","ICD9:301.8","HP:0012075"],"information_content":83.6}
{"id":"MONDO:0002043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectropion","equivalent_identifiers":["MONDO:0002043","DOID:1570","UMLS:C0013592","MESH:D004483","MEDDRA:10014179","MEDDRA:10014180","MEDDRA:10014183","MEDDRA:10015892","MEDDRA:10085757","SNOMEDCT:127559009","SNOMEDCT:62909004","medgen:4448","ICD10:H02.1","ICD9:374.1","HP:0000656"],"information_content":83.6}
{"id":"MONDO:0002045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"communicating hydrocephalus","equivalent_identifiers":["MONDO:0002045","DOID:1573","UMLS:C0009451","MEDDRA:10010116","MEDDRA:10020514","NCIT:C34501","SNOMEDCT:271569006","medgen:1058","icd11.foundation:186577228","ICD10:G91.0","ICD9:331.3","HP:0001334"],"information_content":95.4}
{"id":"MONDO:0002049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia","equivalent_identifiers":["MONDO:0002049","DOID:1588","UMLS:C0040034","UMLS:C0392386","UMLS:C5201036","MESH:D013921","MEDDRA:10024922","MEDDRA:10035528","MEDDRA:10035529","MEDDRA:10035545","MEDDRA:10038213","MEDDRA:10043546","MEDDRA:10043554","MEDDRA:10043555","MEDDRA:10043560","MEDDRA:10043569","NCIT:C162108","NCIT:C203448","NCIT:C3408","SNOMEDCT:302215000","SNOMEDCT:415116008","medgen:52737","icd11.foundation:683583694","ICD10:D69.6","ICD9:287.5","HP:0001873"],"information_content":66.0}
{"id":"MONDO:0002050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Depressed mood","equivalent_identifiers":["MONDO:0002050","DOID:1596","UMLS:C0011570","UMLS:C0011581","UMLS:C0344315","UMLS:C0349217","MESH:D003863","MESH:D003866","MEDDRA:10012374","MEDDRA:10012377","MEDDRA:10012378","MEDDRA:10012386","MEDDRA:10012387","MEDDRA:10012399","MEDDRA:10012401","MEDDRA:10012402","MEDDRA:10012403","MEDDRA:10012404","MEDDRA:10016325","MEDDRA:10016329","MEDDRA:10024919","MEDDRA:10027942","MEDDRA:10027943","MEDDRA:10049709","NCIT:C117199","NCIT:C2982","SNOMEDCT:21061000119107","SNOMEDCT:35489007","SNOMEDCT:366979004","SNOMEDCT:871840004","medgen:4229","HP:0000716"],"information_content":82.1}
{"id":"MONDO:0002052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphadenitis","equivalent_identifiers":["MONDO:0002052","DOID:1602","UMLS:C0024205","UMLS:C0154304","UMLS:C0157705","MESH:D008199","MEDDRA:10000841","MEDDRA:10008955","MEDDRA:10025188","MEDDRA:10025189","MEDDRA:10025191","MEDDRA:10025192","MEDDRA:10050823","MEDDRA:10085676","NCIT:C26821","NCIT:C26966","NCIT:C26978","SNOMEDCT:19471005","SNOMEDCT:32035007","SNOMEDCT:41174002","medgen:7410","icd11.foundation:1483611415","ICD10:I88.1","ICD10:L04","ICD9:289.1","ICD9:683","HP:0002840"],"information_content":82.6}
{"id":"MONDO:0002056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fibroadenoma","equivalent_identifiers":["MONDO:0002056","DOID:1618","EFO:1000254","UMLS:C0178421","UMLS:C0206650","UMLS:C0346158","UMLS:C1333137","MESH:D018226","MEDDRA:10006276","MEDDRA:10016613","MEDDRA:10063384","NCIT:C3744","NCIT:C4276","NCIT:C5194","SNOMEDCT:1156873009","SNOMEDCT:254845004","SNOMEDCT:254847007","SNOMEDCT:46212000","medgen:64231","ICD10:D24","HP:0010619"],"information_content":86.3}
{"id":"MONDO:0002070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular septal defect","equivalent_identifiers":["MONDO:0002070","DOID:1657","OMIM.PS:614429","UMLS:C0018818","MESH:D006345","MEDDRA:10010671","MEDDRA:10012119","MEDDRA:10040100","MEDDRA:10047298","MEDDRA:10047300","MEDDRA:10047720","MEDDRA:10089779","NCIT:C84506","SNOMEDCT:253549006","SNOMEDCT:30288003","SNOMEDCT:768552007","medgen:42366","icd11.foundation:668140715","ICD10:Q21.0","ICD9:745.4","HP:0001629"],"information_content":79.6}
{"id":"MONDO:0002071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"supratentorial cancer","equivalent_identifiers":["MONDO:0002071","DOID:1659","UMLS:C0038874","UMLS:C0751589","MESH:D015173","NCIT:C3397","NCIT:C4964","medgen:155589","ICD10:C71.0","HP:0030693"],"information_content":66.4}
{"id":"MONDO:0002076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pneumothorax","equivalent_identifiers":["MONDO:0002076","DOID:1673","UMLS:C0029850","UMLS:C0032326","MESH:D011030","MEDDRA:10035759","MEDDRA:10035762","NCIT:C38006","SNOMEDCT:36118008","medgen:19365","icd11.foundation:1946559257","ICD10:J93.1","HP:0002107"],"information_content":88.2}
{"id":"MONDO:0002078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart septal defect","equivalent_identifiers":["MONDO:0002078","DOID:1681","UMLS:C0018816","UMLS:C0332915","UMLS:C5779791","MESH:D006343","MEDDRA:10007605","MEDDRA:10007607","MEDDRA:10010396","MEDDRA:10062326","MEDDRA:10064021","NCIT:C84482","SNOMEDCT:1297035005","SNOMEDCT:253273004","SNOMEDCT:396351009","SNOMEDCT:59494005","medgen:6752","ICD10:Q21.9","HP:0001671"],"information_content":69.8}
{"id":"MONDO:0002082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endocrine gland neoplasm","equivalent_identifiers":["MONDO:0002082","EFO:0003769","UMLS:C0014132","MEDDRA:10014709","MEDDRA:10061121","NCIT:C3010","SNOMEDCT:387922007","SNOMEDCT:387927001","medgen:4044","HP:0100568"],"information_content":53.2}
{"id":"MONDO:0002102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cheilitis","equivalent_identifiers":["MONDO:0002102","DOID:1762","UMLS:C0007971","UMLS:C4280288","MESH:D002613","MEDDRA:10008417","MEDDRA:10049345","NCIT:C79545","SNOMEDCT:7847004","medgen:3349","icd11.foundation:482914030","HP:0100825"],"information_content":90.9}
{"id":"MONDO:0002118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary system disorder","equivalent_identifiers":["MONDO:0002118","DOID:18","EFO:0009690","UMLS:C0042063","UMLS:C0042075","UMLS:C0080276","UMLS:C1335051","UMLS:C4020895","MESH:D000091642","MESH:D014564","MESH:D014570","MEDDRA:10002625","MEDDRA:10013278","MEDDRA:10013279","MEDDRA:10038359","MEDDRA:10046566","MEDDRA:10046567","MEDDRA:10046568","MEDDRA:10046692","MEDDRA:10046693","MEDDRA:10046694","MEDDRA:10046695","MEDDRA:10046699","MEDDRA:10046700","MEDDRA:10046709","MEDDRA:10062334","NCIT:C156660","NCIT:C27599","NCIT:C3430","NCIT:C35107","SNOMEDCT:128606002","SNOMEDCT:287085006","SNOMEDCT:41368006","SNOMEDCT:42030000","medgen:21791","HP:0000119"],"information_content":45.1}
{"id":"MONDO:0002119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Osteofibroma","equivalent_identifiers":["MONDO:0002119","DOID:180","EFO:0007412","UMLS:C0206640","UMLS:C0555196","UMLS:C5400836","MESH:D018214","MEDDRA:10073852","NCIT:C173820","NCIT:C8422","SNOMEDCT:25603007","SNOMEDCT:302862001","SNOMEDCT:302863006","SNOMEDCT:80699009","medgen:104906","HP:0030426"],"information_content":89.4}
{"id":"MONDO:0002122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuritis","equivalent_identifiers":["MONDO:0002122","DOID:1803","UMLS:C0027813","UMLS:C0270933","MESH:D009443","MEDDRA:10029240","MEDDRA:10029246","MEDDRA:10029248","MEDDRA:10034593","MEDDRA:10034599","NCIT:C116381","SNOMEDCT:128192007","SNOMEDCT:21018002","medgen:14344","HP:0031002"],"information_content":82.1}
{"id":"MONDO:0002123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"calcinosis","equivalent_identifiers":["MONDO:0002123","DOID:182","UMLS:C0006663","MESH:D002114","MEDDRA:10006938","MEDDRA:10051103","NCIT:C3672","SNOMEDCT:6595006","medgen:709","icd11.foundation:1374802956","HP:0003761"],"information_content":60.3}
{"id":"MONDO:0002127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urethral stricture","equivalent_identifiers":["MONDO:0002127","DOID:1829","UMLS:C0029752","UMLS:C0041974","UMLS:C4551691","MESH:D014525","MEDDRA:10046466","MEDDRA:10046474","MEDDRA:10065584","NCIT:C79821","SNOMEDCT:236647003","SNOMEDCT:76618002","medgen:1641821","icd11.foundation:611219038","ICD9:598.8","HP:0008661"],"information_content":87.2}
{"id":"MONDO:0002128","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mononeuritis multiplex","equivalent_identifiers":["MONDO:0002128","DOID:1835","UMLS:C0151295","MEDDRA:10027911","NCIT:C70938","SNOMEDCT:30292005","medgen:101790","icd11.foundation:1838368265","ICD10:G58.7","ICD9:354.5","HP:0032018"],"information_content":100.0}
{"id":"MONDO:0002142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"undifferentiated pleomorphic sarcoma","equivalent_identifiers":["MONDO:0002142","DOID:1907","orphanet:2023","EFO:1001972","UMLS:C0279546","UMLS:C0334463","MESH:D051677","MEDDRA:10016665","MEDDRA:10025552","MEDDRA:10025553","MEDDRA:10025556","MEDDRA:10025562","MEDDRA:10087873","NCIT:C114541","NCIT:C4247","SNOMEDCT:34360000","SNOMEDCT:443439001","medgen:87248"],"information_content":78.8}
{"id":"MONDO:0002146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadism","equivalent_identifiers":["MONDO:0002146","DOID:1924","UMLS:C0020619","MESH:D007006","MEDDRA:10058359","NCIT:C9227","SNOMEDCT:48130008","medgen:5711","HP:0000135"],"information_content":68.0}
{"id":"MONDO:0002155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholecystitis","equivalent_identifiers":["MONDO:0002155","DOID:1949","UMLS:C0008325","UMLS:C0085694","MESH:D002764","MEDDRA:10008612","MEDDRA:10008617","MEDDRA:10008618","MEDDRA:10008619","MEDDRA:10008847","MEDDRA:10017633","MEDDRA:10021955","MEDDRA:10072027","NCIT:C34465","NCIT:C35146","SNOMEDCT:20824003","SNOMEDCT:76581006","medgen:920","icd11.foundation:786251500","ICD10:K81","ICD9:575.10","HP:0001082"],"information_content":85.5}
{"id":"MONDO:0002165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rectal neoplasm","equivalent_identifiers":["MONDO:0002165","DOID:1984","UMLS:C0034885","MESH:D012004","MEDDRA:10038071","MEDDRA:10062099","NCIT:C3350","SNOMEDCT:126847008","medgen:11148","HP:0100743"],"information_content":69.0}
{"id":"MONDO:0002173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroma","equivalent_identifiers":["MONDO:0002173","DOID:2001","EFO:0009619","UMLS:C0027858","UMLS:C0273482","MESH:D009463","MEDDRA:10011422","MEDDRA:10029174","MEDDRA:10029308","MEDDRA:10029310","MEDDRA:10029312","MEDDRA:10078251","NCIT:C3275","SNOMEDCT:1163436007","SNOMEDCT:25169009","SNOMEDCT:274089002","SNOMEDCT:443892003","SNOMEDCT:84116009","medgen:14352","HP:0030430"],"information_content":87.2}
{"id":"MONDO:0002174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preretinal fibrosis","equivalent_identifiers":["MONDO:0002174","DOID:2006","UMLS:C0339543","MESH:D019773","MEDDRA:10025417","MEDDRA:10057892","MEDDRA:10062977","MEDDRA:10063738","MEDDRA:10064697","MEDDRA:10086638","NCIT:C175882","SNOMEDCT:133853005","SNOMEDCT:367649002","medgen:87388","ICD9:362.56","HP:0100014"],"information_content":100.0}
{"id":"MONDO:0002177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinism","equivalent_identifiers":["MONDO:0002177","DOID:2018","UMLS:C0020459","MESH:D006946","MEDDRA:10020643","MEDDRA:10020644","MEDDRA:10022483","MEDDRA:10022486","MEDDRA:10060378","MEDDRA:10061211","MEDDRA:10077858","SNOMEDCT:83469008","medgen:43779","ICD10:E16.1","HP:0000842"],"information_content":78.3}
{"id":"MONDO:0002181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exostosis","equivalent_identifiers":["MONDO:0002181","DOID:203","UMLS:C0015302","UMLS:C1442903","UMLS:C1956089","MESH:D005096","MESH:D054850","MEDDRA:10006012","MEDDRA:10015688","MEDDRA:10015692","MEDDRA:10050016","MEDDRA:10087696","NCIT:C139151","NCIT:C3029","SNOMEDCT:235231000119100","SNOMEDCT:416189003","SNOMEDCT:80400009","SNOMEDCT:88998003","medgen:257035","ICD10:M27.8","ICD9:726.91","HP:0100777"],"information_content":82.6}
{"id":"MONDO:0002185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperostosis","equivalent_identifiers":["MONDO:0002185","DOID:205","UMLS:C0020492","MESH:D015576","MEDDRA:10005973","MEDDRA:10020698","NCIT:C34712","SNOMEDCT:13814009","SNOMEDCT:203514008","medgen:9366","ICD10:M89.3","HP:0100774"],"information_content":79.3}
{"id":"MONDO:0002203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Constipation","equivalent_identifiers":["MONDO:0002203","UMLS:C0009806","UMLS:C0237326","MESH:D003248","MEDDRA:10010774","MEDDRA:10050960","MEDDRA:10051244","MEDDRA:10054833","MEDDRA:10055664","NCIT:C37930","SNOMEDCT:14760008","SNOMEDCT:225595004","medgen:1101","HP:0002019"],"information_content":71.0}
{"id":"MONDO:0002211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B cell deficiency","equivalent_identifiers":["MONDO:0002211","DOID:2115","UMLS:C0154276","UMLS:C0522274","UMLS:C1855067","MEDDRA:10012134","MEDDRA:10020464","NCIT:C4799","SNOMEDCT:103075007","medgen:340780","ICD9:279.03","HP:0010976"],"information_content":71.0}
{"id":"MONDO:0002234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaginitis","equivalent_identifiers":["MONDO:0002234","DOID:2170","EFO:0005757","UMLS:C0042267","UMLS:C0042268","MESH:D014627","MEDDRA:10046916","MEDDRA:10046950","MEDDRA:10063128","NCIT:C26911","SNOMEDCT:30800001","medgen:21815","icd11.foundation:290861382","ICD10:N76","ICD9:616.1","HP:0030683","MP:0003541"],"information_content":85.5}
{"id":"MONDO:0002236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular cancer","equivalent_identifiers":["MONDO:0002236","DOID:2174","UMLS:C0015414","UMLS:C0153632","UMLS:C0496836","MESH:D005134","MEDDRA:10025549","MEDDRA:10025910","MEDDRA:10025911","MEDDRA:10030054","MEDDRA:10048730","MEDDRA:10052448","NCIT:C4767","SNOMEDCT:363461003","SNOMEDCT:371486001","medgen:105418","ICD9:190.8","HP:0100012"],"information_content":63.7}
{"id":"MONDO:0002237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carbuncle","equivalent_identifiers":["MONDO:0002237","DOID:2176","EFO:1000674","UMLS:C0007078","UMLS:C0007079","MESH:D002270","MEDDRA:10007247","SNOMEDCT:41570003","SNOMEDCT:416893007","medgen:2866","icd11.foundation:1456834066","ICD9:680.9","HP:0020084"],"information_content":100.0}
{"id":"MONDO:0002243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemorrhagic disease","equivalent_identifiers":["MONDO:0002243","DOID:2213","UMLS:C0019087","UMLS:C1846821","MESH:D006474","MEDDRA:10019009","MEDDRA:10055279","MEDDRA:10062713","MEDDRA:10062720","NCIT:C115221","NCIT:C195006","medgen:6799","ICD10:D69.9","ICD9:287.9","HP:0001928"],"information_content":66.0}
{"id":"MONDO:0002244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor VII deficiency","equivalent_identifiers":["MONDO:0002244","UMLS:C0015503","UMLS:C4024722","MESH:D005168","MEDDRA:10016079","SNOMEDCT:37193007","medgen:8769","HP:0008169"],"information_content":92.8}
{"id":"MONDO:0002245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blood platelet disease","equivalent_identifiers":["MONDO:0002245","UMLS:C0151854","UMLS:C4020863","MESH:D001791","MEDDRA:10000167","MEDDRA:10035511","MEDDRA:10035512","MEDDRA:10035544","MEDDRA:10043548","NCIT:C131634","SNOMEDCT:127566005","SNOMEDCT:22716005","medgen:57492","HP:0001872"],"information_content":67.3}
{"id":"MONDO:0002247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor X deficiency","equivalent_identifiers":["MONDO:0002247","UMLS:C0015519","UMLS:C4024702","MESH:D005171","MEDDRA:10052474","NCIT:C131632","SNOMEDCT:76642003","medgen:4635","HP:0008321"],"information_content":90.9}
{"id":"MONDO:0002249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytosis","equivalent_identifiers":["MONDO:0002249","DOID:2228","UMLS:C0836924","UMLS:C0857460","MESH:D013922","MEDDRA:10021671","MEDDRA:10021674","MEDDRA:10035547","MEDDRA:10043549","MEDDRA:10043550","MEDDRA:10043563","MEDDRA:10051608","MEDDRA:10056923","MEDDRA:10069776","MEDDRA:10074399","NCIT:C162107","NCIT:C35530","SNOMEDCT:415115007","SNOMEDCT:6631009","medgen:163397","ICD10:D75.83","HP:0001894"],"information_content":72.2}
{"id":"MONDO:0002251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatitis","equivalent_identifiers":["MONDO:0002251","DOID:2237","UMLS:C0001308","UMLS:C0019158","UMLS:C0149519","MESH:D006505","MEDDRA:10009103","MEDDRA:10019717","MEDDRA:10019759","MEDDRA:10019789","MEDDRA:10019790","MEDDRA:10019802","MEDDRA:10029715","MEDDRA:10078239","NCIT:C3095","SNOMEDCT:128241005","SNOMEDCT:197268000","SNOMEDCT:41889008","medgen:5515","ICD10:K73.9","ICD9:570","ICD9:571.4","ICD9:571.41","HP:0012115"],"information_content":73.3}
{"id":"MONDO:0002257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ankylosis","equivalent_identifiers":["MONDO:0002257","DOID:227","UMLS:C0003090","MESH:D000844","MEDDRA:10002559","MEDDRA:10002566","MEDDRA:10002571","MEDDRA:10023198","NCIT:C171941","SNOMEDCT:111227009","SNOMEDCT:36504009","medgen:8101","ICD10:M24.6","ICD9:718.5","HP:0031013"],"information_content":92.8}
{"id":"MONDO:0002258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pharyngitis","equivalent_identifiers":["MONDO:0002258","DOID:2275","UMLS:C0031350","UMLS:C0155824","MESH:D010612","MEDDRA:10034835","MEDDRA:10034838","MEDDRA:10065716","NCIT:C26851","SNOMEDCT:405737000","medgen:45846","ICD10:J02","ICD9:462","ICD9:472","ICD9:478.20","HP:0025439"],"information_content":86.3}
{"id":"MONDO:0002265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stereotypic movement disorder","equivalent_identifiers":["MONDO:0002265","DOID:2303","UMLS:C0038271","UMLS:C0038273","MESH:D019956","MEDDRA:10042005","MEDDRA:10042008","MEDDRA:10042009","SNOMEDCT:5507002","SNOMEDCT:84328007","medgen:21320","ICD10:F98.4","ICD9:307.3","HP:0000733"],"information_content":80.9}
{"id":"MONDO:0002267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obstructive lung disease","equivalent_identifiers":["MONDO:0002267","DOID:2320","UMLS:C0001883","UMLS:C0600260","MESH:D000402","MESH:D008173","MEDDRA:10001536","MEDDRA:10001539","MEDDRA:10013108","MEDDRA:10025081","MEDDRA:10029959","MEDDRA:10029973","MEDDRA:10061877","NCIT:C50456","SNOMEDCT:79688008","medgen:1387","HP:0006536"],"information_content":80.2}
{"id":"MONDO:0002268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyspepsia","equivalent_identifiers":["MONDO:0002268","EFO:0008533","UMLS:C0013395","MESH:D004415","MEDDRA:10013946","MEDDRA:10021706","NCIT:C26756","SNOMEDCT:162031009","medgen:41681","icd11.foundation:869622187","HP:0410281"],"information_content":75.8}
{"id":"MONDO:0002271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colon adenocarcinoma","equivalent_identifiers":["MONDO:0002271","DOID:234","EFO:1001949","UMLS:C0338106","MEDDRA:10001167","NCIT:C4349","medgen:137834","HP:0040276"],"information_content":77.3}
{"id":"MONDO:0002277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arteriosclerosis disorder","equivalent_identifiers":["MONDO:0002277","DOID:2348","DOID:2349","EFO:0009086","UMLS:C0003850","UMLS:C3665365","UMLS:C4280568","MESH:D001161","MEDDRA:10003210","MEDDRA:10051614","NCIT:C34398","NCIT:C34403","SNOMEDCT:107671003","SNOMEDCT:28960008","SNOMEDCT:72092001","medgen:2076","HP:0002634"],"information_content":76.7}
{"id":"MONDO:0002280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anemia","equivalent_identifiers":["MONDO:0002280","DOID:2355","EFO:0004272","UMLS:C0002871","UMLS:C0162119","UMLS:C1510654","UMLS:C4703372","MESH:D000740","MEDDRA:10002034","MEDDRA:10002071","MEDDRA:10002082","MEDDRA:10002272","MEDDRA:10002315","MEDDRA:10011964","MEDDRA:10018884","MEDDRA:10018889","MEDDRA:10019171","MEDDRA:10019483","MEDDRA:10045627","MEDDRA:10055600","MEDDRA:10055742","MEDDRA:10056184","NCIT:C2869","NCIT:C80085","SNOMEDCT:165397008","SNOMEDCT:271737000","medgen:1526","ICD10:D64.9","ICD9:285.9","HP:0001903"],"information_content":60.2}
{"id":"MONDO:0002281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocytic anemia","equivalent_identifiers":["MONDO:0002281","DOID:2361","UMLS:C0002886","MESH:D000748","MEDDRA:10002064","MEDDRA:10002297","MEDDRA:10025380","MEDDRA:10025381","MEDDRA:10074043","NCIT:C34381","SNOMEDCT:83414005","medgen:1920","HP:0001972"],"information_content":82.6}
{"id":"MONDO:0002297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermal appendage tumor","equivalent_identifiers":["MONDO:0002297","DOID:2433","UMLS:C0334342","UMLS:C0345988","MEDDRA:10045153","NCIT:C4463","NCIT:C7580","SNOMEDCT:126489007","SNOMEDCT:55681005","medgen:87527","HP:0012842"],"information_content":65.9}
{"id":"MONDO:0002303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central retinal vein occlusion","equivalent_identifiers":["MONDO:0002303","DOID:2450","orphanet:411527","UMLS:C0154841","MEDDRA:10007972","NCIT:C118859","SNOMEDCT:68478007","medgen:509679","icd11.foundation:1146548497","ICD10:H34.81","ICD9:362.35","HP:0020166"],"information_content":95.4}
{"id":"MONDO:0002304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"protein S deficiency","equivalent_identifiers":["MONDO:0002304","DOID:2451","UMLS:C0242666","UMLS:C4025284","MESH:D018455","MEDDRA:10051292","NCIT:C99026","SNOMEDCT:1563006","medgen:69229","ICD10:D68.59","HP:0004855"],"information_content":90.9}
{"id":"MONDO:0002305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia","equivalent_identifiers":["MONDO:0002305","DOID:2452","EFO:0009315","UMLS:C0398623","MESH:D019851","MEDDRA:10020608","MEDDRA:10057396","MEDDRA:10075816","NCIT:C84479","SNOMEDCT:234467004","SNOMEDCT:76612001","medgen:98306","icd11.foundation:1733531851","HP:0100724"],"information_content":78.5}
{"id":"MONDO:0002316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"motor peripheral neuropathy","equivalent_identifiers":["MONDO:0002316","DOID:2477","UMLS:C0271683","MEDDRA:10078252","NCIT:C3500","SNOMEDCT:85423005","SNOMEDCT:95663000","medgen:82885","HP:0007178"],"information_content":83.6}
{"id":"MONDO:0002317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dizziness","equivalent_identifiers":["MONDO:0002317","DOID:2479","EFO:0009847","UMLS:C0012833","UMLS:C0042571","UMLS:C0155503","UMLS:C0476206","MESH:D004244","MESH:D014717","MEDDRA:10013573","MEDDRA:10013580","MEDDRA:10019201","MEDDRA:10019202","MEDDRA:10019203","MEDDRA:10041619","MEDDRA:10047340","MEDDRA:10047343","MEDDRA:10047347","MEDDRA:10047349","MEDDRA:10048019","MEDDRA:10058708","NCIT:C37943","NCIT:C38057","SNOMEDCT:271789005","SNOMEDCT:38403006","SNOMEDCT:399090003","SNOMEDCT:399153001","SNOMEDCT:404640003","medgen:56365","ICD10:H81.4","ICD9:386.2","HP:0002321"],"information_content":65.3}
{"id":"MONDO:0002320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital nervous system disorder","equivalent_identifiers":["MONDO:0002320","DOID:2490","UMLS:C0158538","UMLS:C0497552","UMLS:C4531023","NCIT:C97172","SNOMEDCT:88425004","medgen:105425","ICD9:742","HP:0000707"],"information_content":40.4}
{"id":"MONDO:0002321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sensory peripheral neuropathy","equivalent_identifiers":["MONDO:0002321","DOID:2491","UMLS:C0151313","MEDDRA:10034620","MEDDRA:10040038","MEDDRA:10040039","MEDDRA:10062975","NCIT:C3501","SNOMEDCT:789588003","SNOMEDCT:95662005","medgen:101791","ICD9:356.2","HP:0000763"],"information_content":78.0}
{"id":"MONDO:0002333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenic abscess","equivalent_identifiers":["MONDO:0002333","DOID:2530","UMLS:C0272412","MEDDRA:10041643","NCIT:C35347","SNOMEDCT:82053000","medgen:124428","ICD10:D73.3","HP:0025059"],"information_content":92.8}
{"id":"MONDO:0002334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hematopoietic and lymphoid system neoplasm","equivalent_identifiers":["MONDO:0002334","DOID:2531","UMLS:C0376545","UMLS:C1512393","MESH:D019337","MEDDRA:10066476","MEDDRA:10066481","MEDDRA:10086698","MEDDRA:10086808","NCIT:C35813","SNOMEDCT:129154003","medgen:268180","HP:0004377"],"information_content":47.4}
{"id":"MONDO:0002345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervicitis","equivalent_identifiers":["MONDO:0002345","DOID:2568","UMLS:C0007860","UMLS:C0007861","MESH:D002575","MEDDRA:10008323","MEDDRA:10008331","MEDDRA:10068402","NCIT:C26716","SNOMEDCT:198199009","SNOMEDCT:37610005","medgen:3338","icd11.foundation:1433247301","ICD10:N72","ICD9:616.0","HP:0030160"],"information_content":86.3}
{"id":"MONDO:0002350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial nephrotic syndrome","equivalent_identifiers":["MONDO:0002350","DOID:2590","OMIM.PS:256300","UMLS:C3501848","MESH:C535761","MEDDRA:10060737","MEDDRA:10060741","NCIT:C35337","SNOMEDCT:48796009","medgen:502251","icd11.foundation:1524476844","HP:0008677"],"information_content":76.5}
{"id":"MONDO:0002356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreas disorder","equivalent_identifiers":["MONDO:0002356","DOID:26","EFO:0009605","UMLS:C0029771","UMLS:C0030286","UMLS:C4025751","MESH:D010182","MEDDRA:10013250","MEDDRA:10033581","MEDDRA:10033616","MEDDRA:10033617","MEDDRA:10045751","NCIT:C26842","SNOMEDCT:3855007","medgen:14583","ICD10:K86.8","ICD9:577.8","HP:0001732"],"information_content":60.6}
{"id":"MONDO:0002358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal carcinoma","equivalent_identifiers":["MONDO:0002358","DOID:2600","UMLS:C0595989","MEDDRA:10007410","MEDDRA:10007427","MEDDRA:10023906","NCIT:C4855","SNOMEDCT:276975007","medgen:108889","HP:0012118"],"information_content":69.7}
{"id":"MONDO:0002360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondroma","equivalent_identifiers":["MONDO:0002360","DOID:2602","UMLS:C0936248","UMLS:C1704356","MESH:D002812","MEDDRA:10008725","MEDDRA:10069069","NCIT:C3007","NCIT:C53459","SNOMEDCT:31186001","SNOMEDCT:423699002","medgen:181701","HP:0030038"],"information_content":83.6}
{"id":"MONDO:0002363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papilloma","equivalent_identifiers":["MONDO:0002363","DOID:2615","UMLS:C0030354","MESH:D010212","MEDDRA:10033713","MEDDRA:10033715","MEDDRA:10033725","NCIT:C7440","SNOMEDCT:23730008","SNOMEDCT:711329002","medgen:10566","HP:0012740"],"information_content":70.2}
{"id":"MONDO:0002375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sebaceous adenoma","equivalent_identifiers":["MONDO:0002375","DOID:2648","UMLS:C0265319","UMLS:C1368816","MEDDRA:10062919","NCIT:C4174","SNOMEDCT:307598005","SNOMEDCT:36025004","SNOMEDCT:78424008","medgen:237152","HP:0009720"],"information_content":95.4}
{"id":"MONDO:0002378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermoid cyst","equivalent_identifiers":["MONDO:0002378","DOID:2658","EFO:1000894","UMLS:C0011649","MESH:D003884","MEDDRA:10012522","MEDDRA:10012523","MEDDRA:10087681","NCIT:C9011","SNOMEDCT:123151001","SNOMEDCT:417609007","SNOMEDCT:419952004","SNOMEDCT:441459009","SNOMEDCT:72277008","medgen:41504","icd11.foundation:1622534741","ICD10:K09.8","HP:0025247"],"information_content":85.5}
{"id":"MONDO:0002400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synovitis","equivalent_identifiers":["MONDO:0002400","DOID:2703","EFO:0008997","UMLS:C0039103","MESH:D013585","MEDDRA:10042868","NCIT:C50766","SNOMEDCT:416209007","medgen:21051","HP:0100769"],"information_content":92.8}
{"id":"MONDO:0002404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liver hemangioma","equivalent_identifiers":["MONDO:0002404","DOID:271","UMLS:C0238246","MEDDRA:10018821","MEDDRA:10019396","NCIT:C3869","SNOMEDCT:93469006","medgen:66765","HP:0031207"],"information_content":90.9}
{"id":"MONDO:0002406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatitis","equivalent_identifiers":["MONDO:0002406","DOID:2723","UMLS:C0013595","MESH:D003872","MESH:D004485","MEDDRA:10012454","MEDDRA:10014184","MEDDRA:10014200","MEDDRA:10014206","MEDDRA:10014209","MEDDRA:10087879","MEDDRA:10087884","NCIT:C2983","SNOMEDCT:281104002","SNOMEDCT:43116000","medgen:849741","ICD10:L30.9","HP:0000964"],"information_content":63.9}
{"id":"MONDO:0002407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spider nevus","equivalent_identifiers":["MONDO:0002407","DOID:2725","UMLS:C0085666","UMLS:C0206733","MESH:D018324","MEDDRA:10002462","MEDDRA:10007197","MEDDRA:10019404","MEDDRA:10041516","MEDDRA:10041518","MEDDRA:10041519","MEDDRA:10041520","MEDDRA:10041521","MEDDRA:10042171","MEDDRA:10042172","MEDDRA:10055906","MEDDRA:10062789","MEDDRA:10062803","MEDDRA:10077462","MEDDRA:10087485","MEDDRA:10087487","NCIT:C3481","NCIT:C7457","SNOMEDCT:1197658008","SNOMEDCT:195382003","SNOMEDCT:254206003","SNOMEDCT:402867006","SNOMEDCT:56975005","SNOMEDCT:83343001","medgen:64643","ICD10:Q82.5","HP:0005306"],"information_content":80.9}
{"id":"MONDO:0002413","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease I","equivalent_identifiers":["MONDO:0002413","DOID:0081329","orphanet:364","UMLS:C0017920","MESH:D005953","MEDDRA:10018464","MEDDRA:10045239","MEDDRA:10047711","MEDDRA:10057085","NCIT:C84733","SNOMEDCT:124437004","SNOMEDCT:7265005","medgen:6640","ICD10:E74.01"],"information_content":89.4}
{"id":"MONDO:0002420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tic disorder","equivalent_identifiers":["MONDO:0002420","DOID:2769","UMLS:C0040188","UMLS:C0278076","UMLS:C2169806","MESH:D013981","MESH:D020323","MEDDRA:10043833","MEDDRA:10043834","MEDDRA:10043835","MEDDRA:10043849","NCIT:C116758","SNOMEDCT:386783003","SNOMEDCT:402732001","SNOMEDCT:568005","medgen:853666","ICD10:F95","ICD9:307.20","HP:0100033"],"information_content":89.4}
{"id":"MONDO:0002422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adamantinoma","equivalent_identifiers":["MONDO:0002422","DOID:2775","DOID:2776","OMIM:102660","orphanet:55881","UMLS:C0334556","MESH:C562741","MESH:D050398","NCIT:C7644","SNOMEDCT:307609003","SNOMEDCT:56763007","medgen:83163","icd11.foundation:2013322169","HP:0034525"],"information_content":95.4}
{"id":"MONDO:0002441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jervell and Lange-Nielsen syndrome","equivalent_identifiers":["MONDO:0002441","DOID:2842","OMIM.PS:220400","orphanet:90647","UMLS:C0022387","MESH:D029593","MEDDRA:10057936","NCIT:C84793","SNOMEDCT:373905003","medgen:5929"],"information_content":92.8}
{"id":"MONDO:0002443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bruxism","equivalent_identifiers":["MONDO:0002443","DOID:2846","UMLS:C0006325","UMLS:C0393774","UMLS:C0751771","MESH:D002012","MESH:D020186","MEDDRA:10006514","MEDDRA:10006515","MEDDRA:10018489","MEDDRA:10018725","MEDDRA:10043175","MEDDRA:10043176","MEDDRA:10043182","MEDDRA:10089085","NCIT:C73511","SNOMEDCT:191983006","SNOMEDCT:274950005","SNOMEDCT:90207007","medgen:676","icd11.foundation:1046319083","ICD10:F45.8","ICD10:G47.63","ICD9:327.53","HP:0003763"],"information_content":95.4}
{"id":"MONDO:0002447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrial carcinoma","equivalent_identifiers":["MONDO:0002447","DOID:2871","EFO:1001512","UMLS:C0476089","MEDDRA:10007063","MEDDRA:10007342","MEDDRA:10014733","MEDDRA:10014735","MEDDRA:10014743","NCIT:C7558","SNOMEDCT:254878006","medgen:96903","icd11.foundation:1123821211","HP:0012114"],"information_content":62.5}
{"id":"MONDO:0002457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Treacher-Collins syndrome","equivalent_identifiers":["MONDO:0002457","DOID:2908","OMIM.PS:154500","orphanet:861","UMLS:C0242387","MEDDRA:10044554","MEDDRA:10051456","MEDDRA:10051464","NCIT:C75018","SNOMEDCT:62767009","SNOMEDCT:82203000","medgen:66078","icd11.foundation:969026676","ICD10:Q75.4","HP:0005321"],"information_content":89.4}
{"id":"MONDO:0002461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"membranoproliferative glomerulonephritis","equivalent_identifiers":["MONDO:0002461","DOID:2920","UMLS:C0017662","MESH:D015432","MEDDRA:10018370","MEDDRA:10027168","MEDDRA:10027388","NCIT:C34644","SNOMEDCT:80321008","medgen:9033","HP:0000793"],"information_content":90.9}
{"id":"MONDO:0002462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomerulonephritis","equivalent_identifiers":["MONDO:0002462","DOID:2921","UMLS:C0017658","MESH:D005921","MEDDRA:10018364","MEDDRA:10018375","MEDDRA:10029143","NCIT:C26784","SNOMEDCT:36171008","medgen:6616","HP:0000099"],"information_content":72.3}
{"id":"MONDO:0002465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchiolitis","equivalent_identifiers":["MONDO:0002465","DOID:2942","UMLS:C0006271","MESH:D001988","MEDDRA:10006448","NCIT:C39658","SNOMEDCT:4120002","medgen:14235","HP:0011950"],"information_content":84.8}
{"id":"MONDO:0002471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bursitis","equivalent_identifiers":["MONDO:0002471","DOID:2965","UMLS:C0006444","MESH:D002062","MEDDRA:10006809","MEDDRA:10006811","NCIT:C94407","SNOMEDCT:84017003","medgen:691","icd11.foundation:1984620329","ICD10:M71.9","HP:0025232"],"information_content":88.2}
{"id":"MONDO:0002473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kidney Cyst","equivalent_identifiers":["MONDO:0002473","DOID:2975","EFO:0008615","EFO:1000313","UMLS:C0022679","UMLS:C1691228","UMLS:C3887499","MESH:D052177","MEDDRA:10011744","MEDDRA:10011771","MEDDRA:10011772","MEDDRA:10038423","MEDDRA:10038424","MEDDRA:10038426","MEDDRA:10080115","NCIT:C34750","NCIT:C3970","SNOMEDCT:722223000","medgen:854361","HP:0000107"],"information_content":73.2}
{"id":"MONDO:0002474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperoxaluria","equivalent_identifiers":["MONDO:0002474","DOID:2977","OMIM.PS:259900","orphanet:416","UMLS:C0020500","UMLS:C0020501","MESH:D006959","MESH:D006960","MEDDRA:10020703","MEDDRA:10084111","NCIT:C123158","SNOMEDCT:17901006","SNOMEDCT:367621000119107","medgen:5697","ICD10:E72.53","ICD10:R82.992","HP:0003159"],"information_content":90.9}
{"id":"MONDO:0002476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anuria","equivalent_identifiers":["MONDO:0002476","DOID:2983","EFO:0009530","UMLS:C0003460","MESH:D001002","MEDDRA:10002847","MEDDRA:10003113","MEDDRA:10016160","MEDDRA:10046550","MEDDRA:10046641","NCIT:C114699","SNOMEDCT:2472002","medgen:358","icd11.foundation:248693056","HP:0100519"],"information_content":95.4}
{"id":"MONDO:0002492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute kidney failure","equivalent_identifiers":["MONDO:0002492","DOID:3021","UMLS:C0022660","UMLS:C2609414","MESH:D058186","MEDDRA:10000821","MEDDRA:10001041","MEDDRA:10001051","MEDDRA:10016150","MEDDRA:10023419","MEDDRA:10038436","MEDDRA:10038526","MEDDRA:10069339","NCIT:C26808","SNOMEDCT:14350001000004108","SNOMEDCT:14669001","medgen:388570","icd11.foundation:476391827","HP:0001919"],"information_content":85.5}
{"id":"MONDO:0002507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gingival overgrowth","equivalent_identifiers":["MONDO:0002507","DOID:3086","UMLS:C0017566","UMLS:C0376480","UMLS:C4476522","MESH:D005885","MESH:D019214","MEDDRA:10018283","MEDDRA:10018780","MEDDRA:10020725","SNOMEDCT:441787004","SNOMEDCT:441798003","SNOMEDCT:54711002","medgen:87712","ICD10:K06.1","HP:0000212"],"information_content":83.6}
{"id":"MONDO:0002508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gingivitis","equivalent_identifiers":["MONDO:0002508","DOID:3087","UMLS:C0017574","UMLS:C0155937","MESH:D005891","MEDDRA:10000787","MEDDRA:10018292","MEDDRA:10021956","MEDDRA:10072575","NCIT:C34636","SNOMEDCT:31642005","SNOMEDCT:66383009","medgen:4895","ICD10:K05.0","ICD10:K05.1","ICD10:K05.10","ICD9:523.0","ICD9:523.1","HP:0000230"],"information_content":82.6}
{"id":"MONDO:0002516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digestive system cancer","equivalent_identifiers":["MONDO:0002516","DOID:3119","UMLS:C0685938","UMLS:C0751075","MEDDRA:10017985","MEDDRA:10018017","MEDDRA:10018240","NCIT:C4890","SNOMEDCT:428905002","SNOMEDCT:448675008","medgen:148231","ICD10:C26.9","ICD9:239.0","HP:0006749"],"information_content":50.0}
{"id":"MONDO:0002527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoacanthoma","equivalent_identifiers":["MONDO:0002527","DOID:3149","UMLS:C0022572","MESH:D007636","MEDDRA:10023347","MEDDRA:10073955","NCIT:C3146","SNOMEDCT:254662007","SNOMEDCT:417264005","medgen:5954","icd11.foundation:516478127","HP:0031525"],"information_content":90.9}
{"id":"MONDO:0002529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin squamous cell carcinoma","equivalent_identifiers":["MONDO:0002529","DOID:3151","UMLS:C0553723","MEDDRA:10041834","MEDDRA:10085908","NCIT:C4819","SNOMEDCT:254651007","medgen:107512","HP:0006739"],"information_content":72.8}
{"id":"MONDO:0002531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin neoplasm","equivalent_identifiers":["MONDO:0002531","DOID:3165","EFO:0004198","UMLS:C0037286","MESH:D012878","MEDDRA:10029098","MEDDRA:10040897","MEDDRA:10040940","MEDDRA:10040941","MEDDRA:10058215","NCIT:C3372","SNOMEDCT:126488004","medgen:19993","HP:0008069"],"information_content":55.2}
{"id":"MONDO:0002545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal cord disorder","equivalent_identifiers":["MONDO:0002545","DOID:319","EFO:0009488","UMLS:C0037928","UMLS:C4025722","UMLS:C4477104","MESH:D013118","MEDDRA:10028570","MEDDRA:10028574","MEDDRA:10041550","MEDDRA:10045757","MEDDRA:10061367","NCIT:C97110","SNOMEDCT:48522003","medgen:11550","ICD10:G95.9","ICD9:336.9","HP:0002143"],"information_content":64.4}
{"id":"MONDO:0002546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schwannoma","equivalent_identifiers":["MONDO:0002546","DOID:3192","DOID:955","orphanet:252164","EFO:0000693","UMLS:C0027809","MESH:D009442","MEDDRA:10029234","MEDDRA:10029237","MEDDRA:10039667","NCIT:C3269","SNOMEDCT:189948006","SNOMEDCT:404022001","SNOMEDCT:985004","medgen:45053","HP:0100008"],"information_content":74.2}
{"id":"MONDO:0002565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelitis","equivalent_identifiers":["MONDO:0002565","DOID:322","EFO:1001472","UMLS:C0026975","MESH:D009187","MEDDRA:10028524","MEDDRA:10028526","NCIT:C26832","SNOMEDCT:41370002","medgen:10230","icd11.foundation:1993728609","HP:0012486"],"information_content":83.1}
{"id":"MONDO:0002567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tracheal disorder","equivalent_identifiers":["MONDO:0002567","DOID:3225","UMLS:C0040580","UMLS:C4025678","MESH:D014133","MEDDRA:10053490","NCIT:C35079","SNOMEDCT:47125007","medgen:892789","ICD10:S12.8","HP:0002778"],"information_content":75.3}
{"id":"MONDO:0002568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tracheal stenosis","equivalent_identifiers":["MONDO:0002568","DOID:3227","UMLS:C0040583","MESH:D014135","MEDDRA:10050816","NCIT:C78646","SNOMEDCT:11296007","medgen:21227","HP:0002777"],"information_content":92.8}
{"id":"MONDO:0002601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"teratoma","equivalent_identifiers":["MONDO:0002601","DOID:3307","UMLS:C0039538","MESH:D013724","MEDDRA:10043276","MEDDRA:10043277","NCIT:C3403","SNOMEDCT:1187393008","SNOMEDCT:36591000119102","SNOMEDCT:55818009","medgen:21097","HP:0009792"],"information_content":68.0}
{"id":"MONDO:0002602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CNS disorder","equivalent_identifiers":["MONDO:0002602","DOID:331","EFO:0009386","UMLS:C0007682","UMLS:C4021765","MESH:D002493","MEDDRA:10007943","MEDDRA:10007944","MEDDRA:10013202","MEDDRA:10029204","NCIT:C2934","SNOMEDCT:23853001","medgen:892343","ICD10:G96.9","HP:0002011"],"information_content":46.5}
{"id":"MONDO:0002610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"purpura","equivalent_identifiers":["MONDO:0002610","DOID:3326","UMLS:C0034150","UMLS:C4732730","MESH:D011693","MEDDRA:10034228","MEDDRA:10037549","MEDDRA:10037559","NCIT:C78787","SNOMEDCT:12393003","SNOMEDCT:387778001","SNOMEDCT:423902002","medgen:19584","ICD10:D69.2","HP:0000979"],"information_content":85.5}
{"id":"MONDO:0002615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xanthomatosis","equivalent_identifiers":["MONDO:0002615","DOID:3345","UMLS:C0043325","MESH:D014973","MEDDRA:10048215","SNOMEDCT:63103006","medgen:21939","HP:0000991"],"information_content":84.8}
{"id":"MONDO:0002629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Osteosarcoma","equivalent_identifiers":["MONDO:0002629","DOID:3376","OMIM:259500","orphanet:668","UMLS:C0029463","UMLS:C0585442","MEDDRA:10031244","MEDDRA:10031291","MEDDRA:10031295","MEDDRA:10039496","NCIT:C53707","NCIT:C9145","SNOMEDCT:1163405004","SNOMEDCT:189878003","SNOMEDCT:21708004","SNOMEDCT:307576001","medgen:108437","HP:0002669"],"information_content":69.9}
{"id":"MONDO:0002637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"histiocytosis","equivalent_identifiers":["MONDO:0002637","DOID:3405","UMLS:C0019618","UMLS:C5848164","MESH:D015614","MEDDRA:10020117","MEDDRA:10020118","NCIT:C3106","SNOMEDCT:60657004","SNOMEDCT:65396000","medgen:6845","HP:0100727"],"information_content":68.0}
{"id":"MONDO:0002660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharochalasis","equivalent_identifiers":["MONDO:0002660","DOID:348","UMLS:C0005742","MEDDRA:10005152","SNOMEDCT:47704002","medgen:14154","icd11.foundation:583527617","ICD10:H02.3","ICD9:374.34","HP:0010749"],"information_content":100.0}
{"id":"MONDO:0002679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral infarction","equivalent_identifiers":["MONDO:0002679","DOID:3526","OMIM:601367","UMLS:C0007785","MESH:D002544","MEDDRA:10008117","MEDDRA:10008118","MEDDRA:10021755","NCIT:C50486","SNOMEDCT:432504007","medgen:3321","ICD10:I63","HP:0025722"],"information_content":89.4}
{"id":"MONDO:0002696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sertoli cell tumor","equivalent_identifiers":["MONDO:0002696","DOID:3577","UMLS:C0036769","UMLS:C4020704","MESH:D012707","NCIT:C39976","SNOMEDCT:89089007","medgen:11387","HP:0100619"],"information_content":83.6}
{"id":"MONDO:0002697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian gonadoblastoma","equivalent_identifiers":["MONDO:0002697","DOID:3578","OMIM:424500","orphanet:206484","EFO:1000420","UMLS:C1518716","MEDDRA:10081854","NCIT:C39985","SNOMEDCT:716594002","medgen:309510","icd11.foundation:1564602847","HP:0000149"],"information_content":100.0}
{"id":"MONDO:0002698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular gonadoblastoma","equivalent_identifiers":["MONDO:0002698","DOID:3579","UMLS:C1515283","NCIT:C39911","medgen:272839","HP:0000030"],"information_content":100.0}
{"id":"MONDO:0002708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis","equivalent_identifiers":["MONDO:0002708","DOID:3612","UMLS:C0035333","MESH:D012173","MEDDRA:10038910","MEDDRA:10038913","NCIT:C115993","SNOMEDCT:399463004","medgen:19765","HP:0032118"],"information_content":87.2}
{"id":"MONDO:0002714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central nervous system cancer","equivalent_identifiers":["MONDO:0002714","DOID:3620","EFO:0000326","UMLS:C0085136","MESH:D016543","MEDDRA:10007958","MEDDRA:10007959","MEDDRA:10009714","MEDDRA:10009715","MEDDRA:10009716","MEDDRA:10028992","NCIT:C4627","SNOMEDCT:126951006","medgen:87593","ICD10:C72.9","HP:0100006"],"information_content":57.2}
{"id":"MONDO:0002728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhabdoid tumor","equivalent_identifiers":["MONDO:0002728","DOID:3672","OMIM:609322","orphanet:69077","EFO:0005701","UMLS:C0206743","UMLS:C1836326","UMLS:C1836327","UMLS:C2750405","MESH:C563737","MESH:C563738","MESH:D018335","MEDDRA:10073334","MEDDRA:10073335","NCIT:C178393","NCIT:C3808","SNOMEDCT:1156418001","SNOMEDCT:83118000","medgen:64646","HP:0034557"],"information_content":75.3}
{"id":"MONDO:0002729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhabdoid tumor of the kidney","equivalent_identifiers":["MONDO:0002729","DOID:3674","EFO:1000512","UMLS:C0854917","MEDDRA:10039019","MEDDRA:10074121","NCIT:C8715","medgen:208930","HP:0034402"],"information_content":89.4}
{"id":"MONDO:0002735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anal canal adenocarcinoma","equivalent_identifiers":["MONDO:0002735","DOID:3692","orphanet:424016","UMLS:C1332259","NCIT:C7471","SNOMEDCT:764845008","medgen:233977","icd11.foundation:168138050","HP:0030439"],"information_content":89.4}
{"id":"MONDO:0002752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian adenocarcinoma","equivalent_identifiers":["MONDO:0002752","DOID:3713","orphanet:213504","EFO:0006460","UMLS:C0948216","MEDDRA:10051938","NCIT:C7700","medgen:181757"],"information_content":71.6}
{"id":"MONDO:0002768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hermaphroditism","equivalent_identifiers":["MONDO:0002768","DOID:3763","UMLS:C0019269","UMLS:C0266361","MEDDRA:10019906","NCIT:C45909","NCIT:C85207","SNOMEDCT:237821001","medgen:78595","HP:0010459"],"information_content":100.0}
{"id":"MONDO:0002770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaginal discharge","equivalent_identifiers":["MONDO:0002770","DOID:3767","EFO:0009365","UMLS:C0227791","UMLS:C0566969","UMLS:C0566986","MESH:D019522","MEDDRA:10013069","MEDDRA:10046901","MEDDRA:10058695","MEDDRA:10078231","NCIT:C50795","SNOMEDCT:271939006","SNOMEDCT:289567003","medgen:65302","icd11.foundation:2123556104","HP:0034269"],"information_content":76.0}
{"id":"MONDO:0002771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary fibrosis","equivalent_identifiers":["MONDO:0002771","DOID:3770","EFO:0009448","UMLS:C0034069","MESH:D011658","MEDDRA:10016649","MEDDRA:10016660","MEDDRA:10025088","MEDDRA:10037383","MEDDRA:10087671","NCIT:C26869","SNOMEDCT:51615001","medgen:11028","HP:0002206"],"information_content":81.3}
{"id":"MONDO:0002782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranial nerve palsy","equivalent_identifiers":["MONDO:0002782","DOID:3817","EFO:0009489","UMLS:C0151311","UMLS:C4025709","MEDDRA:10050039","MEDDRA:10050355","MEDDRA:10061908","MEDDRA:10061911","MEDDRA:10086555","NCIT:C26941","medgen:57717","HP:0006824"],"information_content":76.2}
{"id":"MONDO:0002800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophlebitis","equivalent_identifiers":["MONDO:0002800","DOID:3875","UMLS:C0040046","UMLS:C0265057","MESH:D013924","MEDDRA:10042557","MEDDRA:10043570","MEDDRA:10043579","MEDDRA:10043587","MEDDRA:10047247","NCIT:C3410","SNOMEDCT:40283005","SNOMEDCT:64156001","medgen:11799","ICD10:I80.0","ICD9:451.0","HP:0004418"],"information_content":90.9}
{"id":"MONDO:0002803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal pseudo-obstruction","equivalent_identifiers":["MONDO:0002803","DOID:3878","EFO:1000988","UMLS:C0021847","MESH:D007418","MEDDRA:10022698","NCIT:C34733","SNOMEDCT:235825006","medgen:5864","HP:0004389"],"information_content":86.3}
{"id":"MONDO:0002840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic gastritis","equivalent_identifiers":["MONDO:0002840","DOID:4030","UMLS:C0267154","MEDDRA:10083619","NCIT:C27052","SNOMEDCT:66329006","medgen:120598","icd11.foundation:1944772274","ICD9:535.7","HP:0410147"],"information_content":100.0}
{"id":"MONDO:0002869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart valve disorder","equivalent_identifiers":["MONDO:0002869","DOID:4079","EFO:0009551","UMLS:C0018824","UMLS:C0079485","UMLS:C0241654","MESH:D006349","MESH:D016127","MEDDRA:10019316","MEDDRA:10046972","MEDDRA:10046973","MEDDRA:10057103","MEDDRA:10061406","NCIT:C45525","SNOMEDCT:368009","SNOMEDCT:398995000","medgen:5463","HP:0001654"],"information_content":64.4}
{"id":"MONDO:0002870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tricuspid valve insufficiency","equivalent_identifiers":["MONDO:0002870","DOID:4080","UMLS:C0040961","MESH:D014262","MEDDRA:10044634","MEDDRA:10044635","MEDDRA:10044640","MEDDRA:10049217","NCIT:C50842","NCIT:C50843","SNOMEDCT:111287006","medgen:11911","icd11.foundation:770887951","HP:0005180"],"information_content":95.4}
{"id":"MONDO:0002872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trophoblastic neoplasm","equivalent_identifiers":["MONDO:0002872","DOID:4085","UMLS:C0041182","MESH:D014328","NCIT:C3422","SNOMEDCT:115234004","medgen:21708","HP:0031502"],"information_content":73.1}
{"id":"MONDO:0002882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colon neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0002882","DOID:4118","orphanet:100080","UMLS:C1333097","NCIT:C5697","SNOMEDCT:1162856006","medgen:234162"],"information_content":77.1}
{"id":"MONDO:0002884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nail disorder","equivalent_identifiers":["MONDO:0002884","DOID:4123","UMLS:C0027339","UMLS:C0853087","MESH:D009260","MEDDRA:10013110","MEDDRA:10013239","MEDDRA:10028684","MEDDRA:10028694","MEDDRA:10028696","MEDDRA:10045750","SNOMEDCT:17790008","medgen:10171","ICD10:L60","ICD9:703","HP:0001597"],"information_content":68.0}
{"id":"MONDO:0002904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"echolalia","equivalent_identifiers":["MONDO:0002904","DOID:4188","UMLS:C0013528","UMLS:C4280380","MESH:D004454","MEDDRA:10014127","NCIT:C97166","SNOMEDCT:64712007","medgen:8532","icd11.foundation:928818606","HP:0010529"],"information_content":92.8}
{"id":"MONDO:0002905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mutism","equivalent_identifiers":["MONDO:0002905","DOID:4189","UMLS:C0026884","MESH:D009155","MEDDRA:10028403","SNOMEDCT:88052002","medgen:6476","icd11.foundation:1275861519","HP:0002300"],"information_content":90.9}
{"id":"MONDO:0002909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperglycemia","equivalent_identifiers":["MONDO:0002909","DOID:4195","UMLS:C0020456","MESH:D006943","MEDDRA:10020635","MEDDRA:10020637","MEDDRA:10020639","NCIT:C26797","SNOMEDCT:237598005","SNOMEDCT:80394007","medgen:5689","ICD10:R73.9","HP:0003074"],"information_content":88.2}
{"id":"MONDO:0002911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain stem glioma","equivalent_identifiers":["MONDO:0002911","DOID:4202","EFO:1000142","UMLS:C0677865","MEDDRA:10006143","MEDDRA:10087678","NCIT:C8501","SNOMEDCT:444545003","medgen:195650","HP:0010796"],"information_content":76.2}
{"id":"MONDO:0002922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyoderma","equivalent_identifiers":["MONDO:0002922","DOID:4223","UMLS:C0034212","UMLS:C1305936","MESH:D011711","MEDDRA:10012486","MEDDRA:10037632","MEDDRA:10037633","SNOMEDCT:70759006","medgen:18783","icd11.foundation:1991248382","ICD10:L08.0","ICD9:686.0","HP:0000999"],"information_content":83.1}
{"id":"MONDO:0002933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteosclerosis","equivalent_identifiers":["MONDO:0002933","DOID:4254","UMLS:C0029464","MESH:D010026","MEDDRA:10031298","NCIT:C41236","SNOMEDCT:49347007","medgen:10502","icd11.foundation:2061303143","HP:0011001"],"information_content":63.5}
{"id":"MONDO:0002974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical cancer","equivalent_identifiers":["MONDO:0002974","DOID:4362","OMIM:603956","UMLS:C0007847","UMLS:C4048328","MEDDRA:10008229","MEDDRA:10008230","MEDDRA:10025831","MEDDRA:10025837","NCIT:C9311","SNOMEDCT:363354003","medgen:890252","ICD10:C53","ICD9:180","HP:0030079"],"information_content":63.8}
{"id":"MONDO:0003001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seminoma","equivalent_identifiers":["MONDO:0003001","DOID:4440","UMLS:C0036631","MESH:D018239","MEDDRA:10039956","NCIT:C9309","SNOMEDCT:1162765005","SNOMEDCT:255107005","SNOMEDCT:36741007","SNOMEDCT:443675005","medgen:11371","HP:0100617"],"information_content":81.7}
{"id":"MONDO:0003002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysgerminoma","equivalent_identifiers":["MONDO:0003002","DOID:4441","UMLS:C0013377","MESH:D004407","NCIT:C2996","SNOMEDCT:60718004","medgen:41680","icd11.foundation:817547820","HP:0100621"],"information_content":90.9}
{"id":"MONDO:0003004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular degeneration","equivalent_identifiers":["MONDO:0003004","DOID:4448","EFO:0009606","UMLS:C0024437","MESH:D008268","MEDDRA:10012148","MEDDRA:10025400","MEDDRA:10025409","MEDDRA:10025414","MEDDRA:10038876","NCIT:C123330","SNOMEDCT:422338006","medgen:7434","HP:0000608"],"information_content":74.2}
{"id":"MONDO:0003005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Macular Edema","equivalent_identifiers":["MONDO:0003005","DOID:4449","UMLS:C0271051","MESH:D008269","MEDDRA:10025415","MEDDRA:10054467","NCIT:C35468","SNOMEDCT:37231002","medgen:75732","HP:0040049"],"information_content":92.8}
{"id":"MONDO:0003009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperaldosteronism","equivalent_identifiers":["MONDO:0003009","DOID:446","EFO:0009452","UMLS:C0020428","MESH:D006929","MEDDRA:10001656","MEDDRA:10001657","MEDDRA:10020571","MEDDRA:10075916","NCIT:C113213","SNOMEDCT:88213004","medgen:6960","icd11.foundation:1937534076","ICD10:E24","ICD10:E26","ICD9:255.0","ICD9:255.1","HP:0000859"],"information_content":84.2}
{"id":"MONDO:0003014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhinitis","equivalent_identifiers":["MONDO:0003014","DOID:4483","EFO:0008521","UMLS:C0035455","UMLS:C0240557","UMLS:C2718128","MESH:D012220","MEDDRA:10028741","MEDDRA:10028742","MEDDRA:10039083","MEDDRA:10039092","NCIT:C34986","SNOMEDCT:70076002","medgen:19782","HP:0012384"],"information_content":84.8}
{"id":"MONDO:0003019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypokalemia","equivalent_identifiers":["MONDO:0003019","DOID:4500","UMLS:C0020621","UMLS:C0683388","UMLS:C1514284","UMLS:C1971021","MESH:D007008","MEDDRA:10021015","MEDDRA:10021017","MEDDRA:10021018","MEDDRA:10021020","MEDDRA:10021080","MEDDRA:10021081","MEDDRA:10024923","MEDDRA:10042817","MEDDRA:10060423","NCIT:C34939","NCIT:C37974","SNOMEDCT:166690008","SNOMEDCT:43339004","medgen:271346","HP:0002900"],"information_content":85.5}
{"id":"MONDO:0003037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis","equivalent_identifiers":["MONDO:0003037","DOID:4535","OMIM.PS:605389","UMLS:C0020678","UMLS:C0232411","UMLS:C1837770","UMLS:C1860844","UMLS:C4721530","UMLS:C5551005","MESH:D007039","MEDDRA:10021126","MEDDRA:10053822","NCIT:C34720","SNOMEDCT:1162675003","SNOMEDCT:134006","SNOMEDCT:53602002","SNOMEDCT:56558005","medgen:6993","HP:0008070"],"information_content":79.9}
{"id":"MONDO:0003038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysgraphia","equivalent_identifiers":["MONDO:0003038","DOID:4540","UMLS:C0234144","MEDDRA:10058319","NCIT:C182452","SNOMEDCT:88278002","medgen:115942","HP:0010526"],"information_content":100.0}
{"id":"MONDO:0003039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nominal aphasia","equivalent_identifiers":["MONDO:0003039","DOID:4541","UMLS:C0003113","MESH:D000849","MEDDRA:10002638","MEDDRA:10002950","MEDDRA:10029503","MEDDRA:10054097","MEDDRA:10054098","MEDDRA:10054194","MEDDRA:10070079","NCIT:C34386","SNOMEDCT:10325006","medgen:312","HP:0030784"],"information_content":100.0}
{"id":"MONDO:0003085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratitis","equivalent_identifiers":["MONDO:0003085","DOID:4677","EFO:0009449","UMLS:C0022568","MESH:D007634","MEDDRA:10011023","MEDDRA:10021953","MEDDRA:10023332","MEDDRA:10023336","MEDDRA:10023346","MEDDRA:10045988","NCIT:C26805","SNOMEDCT:5888003","medgen:44013","ICD10:H16","ICD9:370","HP:0000491"],"information_content":76.2}
{"id":"MONDO:0003111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0003111","DOID:4715","orphanet:100075","UMLS:C1333783","MEDDRA:10090772","MEDDRA:10090774","NCIT:C5696","SNOMEDCT:721194008","medgen:232548"],"information_content":79.9}
{"id":"MONDO:0003115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subglottic hemangioma","equivalent_identifiers":["MONDO:0003115","DOID:472","UMLS:C1336518","NCIT:C6026","medgen:234907","HP:0410264"],"information_content":100.0}
{"id":"MONDO:0003143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiokeratoma","equivalent_identifiers":["MONDO:0003143","DOID:479","UMLS:C0002985","UMLS:C0346075","MESH:D000794","MEDDRA:10052166","MEDDRA:10061639","NCIT:C2874","NCIT:C4488","SNOMEDCT:254788004","SNOMEDCT:26810009","medgen:1542","icd11.foundation:533651286","HP:0001014"],"information_content":88.2}
{"id":"MONDO:0003144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"medulloepithelioma","equivalent_identifiers":["MONDO:0003144","DOID:4790","UMLS:C0334596","UMLS:C5231013","NCIT:C4327","NCIT:C66808","SNOMEDCT:39005004","SNOMEDCT:715903004","SNOMEDCT:818967003","medgen:1702218","icd11.foundation:1078680756","HP:0030071"],"information_content":100.0}
{"id":"MONDO:0003155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cavernous hemangioma","equivalent_identifiers":["MONDO:0003155","DOID:483","EFO:1000151","UMLS:C0018920","UMLS:C1959589","MESH:D006392","MEDDRA:10019390","MEDDRA:10055899","MEDDRA:10071746","NCIT:C3086","SNOMEDCT:33377007","SNOMEDCT:416824008","medgen:9184","HP:0001048"],"information_content":83.6}
{"id":"MONDO:0003172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomeruloid hemangioma","equivalent_identifiers":["MONDO:0003172","DOID:486","UMLS:C1304511","NCIT:C27505","SNOMEDCT:403976007","medgen:224917","HP:0031357"],"information_content":100.0}
{"id":"MONDO:0003182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior horn disorder","equivalent_identifiers":["MONDO:0003182","DOID:4873","UMLS:C0154681","UMLS:C4020812","MEDDRA:10002694","MEDDRA:10002695","MEDDRA:10002696","MEDDRA:10045639","SNOMEDCT:85672005","medgen:102314","ICD9:335","HP:0006802"],"information_content":68.4}
{"id":"MONDO:0003198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"small intestine adenocarcinoma","equivalent_identifiers":["MONDO:0003198","DOID:4906","orphanet:104075","EFO:1000532","UMLS:C0278803","MEDDRA:10041115","MEDDRA:10073373","NCIT:C7888","SNOMEDCT:424440001","medgen:82984","icd11.foundation:1369513329","HP:0040274"],"information_content":79.9}
{"id":"MONDO:0003225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone marrow disorder","equivalent_identifiers":["MONDO:0003225","DOID:4961","UMLS:C0005956","UMLS:C4021634","MESH:D001855","MEDDRA:10050910","MEDDRA:10061729","NCIT:C34433","SNOMEDCT:127035006","medgen:892905","HP:0005561"],"information_content":55.6}
{"id":"MONDO:0003227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prosopagnosia","equivalent_identifiers":["MONDO:0003227","DOID:4970","UMLS:C0234512","MESH:D020238","MEDDRA:10073980","NCIT:C85031","SNOMEDCT:18358003","medgen:65884","icd11.foundation:858616900","ICD10:R48.3","HP:0010528"],"information_content":92.8}
{"id":"MONDO:0003233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kinetic tremor","equivalent_identifiers":["MONDO:0003233","DOID:4990","OMIM.PS:190300","EFO:0003108","UMLS:C0270736","UMLS:C4551521","MESH:D020329","MEDDRA:10004262","MEDDRA:10015496","MEDDRA:10015497","NCIT:C182453","SNOMEDCT:609558009","medgen:78725","ICD10:G25.0","HP:0030186"],"information_content":85.5}
{"id":"MONDO:0003235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic nerve glioma","equivalent_identifiers":["MONDO:0003235","DOID:4992","EFO:0009254","UMLS:C0346326","MESH:D020339","MEDDRA:10030935","MEDDRA:10073338","NCIT:C4537","SNOMEDCT:254976006","SNOMEDCT:404662003","medgen:138056","HP:0009734"],"information_content":86.3}
{"id":"MONDO:0003240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid disease","equivalent_identifiers":["MONDO:0003240","DOID:50","EFO:1000627","UMLS:C0040128","UMLS:C4317107","MESH:D013959","MEDDRA:10013274","MEDDRA:10043709","MEDDRA:10043710","MEDDRA:10043739","MEDDRA:10045832","NCIT:C26893","SNOMEDCT:14304000","medgen:1378579","ICD10:E07.9","ICD9:246.9","HP:0000820"],"information_content":60.2}
{"id":"MONDO:0003257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior pituitary gland neoplasm","equivalent_identifiers":["MONDO:0003257","DOID:5048","UMLS:C1334957","NCIT:C7157","medgen:235368","HP:0011752"],"information_content":89.4}
{"id":"MONDO:0003280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"swayback","equivalent_identifiers":["MONDO:0003280","DOID:5112","UMLS:C0024003","UMLS:C0038981","MESH:D008141","MESH:D013540","MEDDRA:10024842","MEDDRA:10078028","MEDDRA:10078166","NCIT:C34787","SNOMEDCT:1187290008","SNOMEDCT:249710008","SNOMEDCT:61960001","HP:0003307"],"information_content":89.4}
{"id":"MONDO:0003282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian cyst","equivalent_identifiers":["MONDO:0003282","DOID:5119","UMLS:C0029513","UMLS:C0029927","MESH:D010048","MEDDRA:10011746","MEDDRA:10011750","MEDDRA:10033132","MEDDRA:10033133","MEDDRA:10033135","NCIT:C3300","SNOMEDCT:79883001","medgen:14540","ICD10:N83.2","ICD9:620.2","HP:0000138"],"information_content":83.1}
{"id":"MONDO:0003291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leiomyoma cutis","equivalent_identifiers":["MONDO:0003291","DOID:5132","UMLS:C0346064","NCIT:C4482","SNOMEDCT:254767008","medgen:87533","HP:0007620"],"information_content":90.9}
{"id":"MONDO:0003304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plexiform neurofibroma","equivalent_identifiers":["MONDO:0003304","DOID:5151","EFO:0000658","UMLS:C0206728","MESH:D018318","MEDDRA:10065866","NCIT:C3797","SNOMEDCT:403818001","SNOMEDCT:41252002","medgen:64640","HP:0009732"],"information_content":92.8}
{"id":"MONDO:0003307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple mucosal neuroma","equivalent_identifiers":["MONDO:0003307","DOID:5155","UMLS:C0878627","UMLS:C1334828","NCIT:C6559","medgen:233722","HP:0031023"],"information_content":100.0}
{"id":"MONDO:0003319","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scrotum neoplasm","equivalent_identifiers":["MONDO:0003319","DOID:518","UMLS:C0341790","MEDDRA:10039754","NCIT:C4380","SNOMEDCT:126905005","medgen:83328","ICD10:C63.2","ICD9:187.7","HP:0100849"],"information_content":83.6}
{"id":"MONDO:0003329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ureteral obstruction","equivalent_identifiers":["MONDO:0003329","DOID:5199","UMLS:C0029866","UMLS:C0041956","MESH:D014517","MEDDRA:10029970","MEDDRA:10030007","MEDDRA:10046381","MEDDRA:10046406","NCIT:C79802","SNOMEDCT:20018005","SNOMEDCT:766956009","medgen:12012","ICD9:593.4","HP:0006000"],"information_content":85.5}
{"id":"MONDO:0003334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"demyelinating polyneuropathy","equivalent_identifiers":["MONDO:0003334","DOID:5214","UMLS:C0270922","MEDDRA:10012304","MEDDRA:10061811","NCIT:C27062","SNOMEDCT:23414001","medgen:82859","HP:0007108"],"information_content":90.9}
{"id":"MONDO:0003343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal hemangioblastoma","equivalent_identifiers":["MONDO:0003343","DOID:5240","UMLS:C0730303","UMLS:C1514915","NCIT:C39783","SNOMEDCT:312935003","medgen:152677","HP:0009711"],"information_content":90.9}
{"id":"MONDO:0003345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Klatskin Tumor","equivalent_identifiers":["MONDO:0003345","DOID:4927","DOID:5246","orphanet:99978","EFO:1001959","UMLS:C0206702","UMLS:C4045991","MESH:D018285","MEDDRA:10074874","MEDDRA:10074877","MEDDRA:10074878","NCIT:C36077","SNOMEDCT:253017000","SNOMEDCT:865951006","medgen:61664","icd11.foundation:1571104786"],"information_content":79.3}
{"id":"MONDO:0003362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous leiomyosarcoma","equivalent_identifiers":["MONDO:0003362","DOID:5273","UMLS:C0346067","NCIT:C4484","SNOMEDCT:254771006","medgen:87534","icd11.foundation:1653448241","HP:0006755"],"information_content":100.0}
{"id":"MONDO:0003381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary gland disorder","equivalent_identifiers":["MONDO:0003381","DOID:53","EFO:0009607","UMLS:C0029493","UMLS:C0032002","UMLS:C4023206","MESH:D010900","MEDDRA:10035082","MEDDRA:10048593","NCIT:C26854","SNOMEDCT:399244003","medgen:45934","ICD9:253.1","HP:0011747"],"information_content":68.2}
{"id":"MONDO:0003417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"internuclear ophthalmoplegia","equivalent_identifiers":["MONDO:0003417","DOID:538","UMLS:C0152134","MEDDRA:10022597","SNOMEDCT:49823009","medgen:101820","icd11.foundation:377040542","ICD10:H51.2","ICD9:378.86","HP:0030773"],"information_content":100.0}
{"id":"MONDO:0003425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmoplegia","equivalent_identifiers":["MONDO:0003425","DOID:539","UMLS:C0029089","MESH:D009886","MEDDRA:10015953","MEDDRA:10028324","MEDDRA:10030075","MEDDRA:10030875","MEDDRA:10030878","MEDDRA:10033807","MEDDRA:10033820","NCIT:C79697","SNOMEDCT:16110005","medgen:45205","icd11.foundation:1848588735","ICD9:378.56","HP:0000602"],"information_content":79.9}
{"id":"MONDO:0003432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"strabismus","equivalent_identifiers":["MONDO:0003432","DOID:540","UMLS:C0029831","UMLS:C0038379","UMLS:C5574650","MESH:D013285","MEDDRA:10004717","MEDDRA:10020019","MEDDRA:10020020","MEDDRA:10041884","MEDDRA:10042159","MEDDRA:10042163","MEDDRA:10045773","MEDDRA:10061010","NCIT:C35040","SNOMEDCT:128602000","SNOMEDCT:22066006","medgen:21337","ICD10:H50.8","ICD9:378.7","HP:0000486"],"information_content":67.2}
{"id":"MONDO:0003441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia","equivalent_identifiers":["MONDO:0003441","DOID:543","UMLS:C0013421","UMLS:C0393593","UMLS:C4020871","MESH:D004421","MESH:D020821","MEDDRA:10013983","MEDDRA:10013985","NCIT:C34563","SNOMEDCT:15802004","medgen:3940","ICD10:G24","HP:0001332"],"information_content":69.8}
{"id":"MONDO:0003542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"True denticles","equivalent_identifiers":["MONDO:0003542","DOID:5608","UMLS:C0011401","UMLS:C1527284","UMLS:C4280259","UMLS:C4280546","MESH:D003784","SNOMEDCT:57602001","medgen:41471","icd11.foundation:1672640309","HP:0003771"],"information_content":95.4}
{"id":"MONDO:0003557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic nerve sheath meningioma","equivalent_identifiers":["MONDO:0003557","DOID:5632","UMLS:C0346328","MEDDRA:10089684","NCIT:C4538","SNOMEDCT:254978007","medgen:138057","HP:0500089"],"information_content":100.0}
{"id":"MONDO:0003608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy","equivalent_identifiers":["MONDO:0003608","DOID:5723","UMLS:C0029124","MESH:D009896","MEDDRA:10003714","MEDDRA:10003715","MEDDRA:10030910","MEDDRA:10030912","NCIT:C34863","SNOMEDCT:76976005","medgen:18180","icd11.foundation:568505454","ICD10:H47.2","ICD9:377.1","HP:0000648"],"information_content":77.1}
{"id":"MONDO:0003615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nerve compression syndrome","equivalent_identifiers":["MONDO:0003615","DOID:573","EFO:0009487","UMLS:C0027743","UMLS:C1510429","MESH:D009408","MEDDRA:10014921","MEDDRA:10088991","NCIT:C27221","SNOMEDCT:45781009","medgen:266933","HP:0012181"],"information_content":87.2}
{"id":"MONDO:0003620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral nervous system disorder","equivalent_identifiers":["MONDO:0003620","DOID:574","EFO:0009387","UMLS:C1335029","UMLS:C4025831","UMLS:C4721453","MESH:D010523","MEDDRA:10029331","MEDDRA:10034606","MEDDRA:10034610","MEDDRA:10051174","MEDDRA:10080342","NCIT:C27580","NCIT:C27587","SNOMEDCT:302226006","SNOMEDCT:42658009","medgen:892389","HP:0000759"],"information_content":56.8}
{"id":"MONDO:0003634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proteinuria","equivalent_identifiers":["MONDO:0003634","DOID:576","UMLS:C0033687","MESH:D011507","MEDDRA:10037020","MEDDRA:10037032","MEDDRA:10046554","NCIT:C38012","SNOMEDCT:29738008","medgen:10976","icd11.foundation:930895737","ICD10:R80","ICD9:791.0","HP:0000093"],"information_content":73.4}
{"id":"MONDO:0003640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"verruciform xanthoma of skin","equivalent_identifiers":["MONDO:0003640","DOID:5769","UMLS:C0346054","NCIT:C4478","SNOMEDCT:254756007","SNOMEDCT:66174008","medgen:91076","HP:0031517"],"information_content":100.0}
{"id":"MONDO:0003645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cavernous hemangioma of face","equivalent_identifiers":["MONDO:0003645","DOID:5776","EFO:1000152","UMLS:C1332863","NCIT:C7053","medgen:234097","HP:0007486"],"information_content":95.4}
{"id":"MONDO:0003646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rectum neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0003646","DOID:5777","orphanet:100081","UMLS:C1335686","NCIT:C5698","SNOMEDCT:1186811008","medgen:277576"],"information_content":82.1}
{"id":"MONDO:0003652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute urate nephropathy","equivalent_identifiers":["MONDO:0003652","DOID:580","UMLS:C0341712","UMLS:C0403719","MEDDRA:10046503","NCIT:C123037","NCIT:C123245","SNOMEDCT:236496000","SNOMEDCT:267441009","medgen:574593","icd11.foundation:1011901523","ICD9:274.11","HP:0000791"],"information_content":95.4}
{"id":"MONDO:0003653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stork bite","equivalent_identifiers":["MONDO:0003653","DOID:5806","UMLS:C0860468","UMLS:C4024829","UMLS:C4280438","MEDDRA:10039429","SNOMEDCT:254211001","medgen:870384","HP:0007616"],"information_content":100.0}
{"id":"MONDO:0003656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobinuria","equivalent_identifiers":["MONDO:0003656","DOID:582","UMLS:C0019048","MESH:D006456","MEDDRA:10018906","MEDDRA:10019489","NCIT:C34677","SNOMEDCT:68600005","medgen:6792","ICD10:R82.3","ICD9:791.2","HP:0003641"],"information_content":90.9}
{"id":"MONDO:0003664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic anemia","equivalent_identifiers":["MONDO:0003664","DOID:583","UMLS:C0002878","MESH:D000743","MEDDRA:10002045","MEDDRA:10002284","MEDDRA:10018916","MEDDRA:10018921","MEDDRA:10019493","MEDDRA:10019494","MEDDRA:10055193","NCIT:C34376","SNOMEDCT:61261009","medgen:1916","ICD10:D55-D59","HP:0001878"],"information_content":70.0}
{"id":"MONDO:0003669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testis seminoma","equivalent_identifiers":["MONDO:0003669","DOID:5842","orphanet:842","EFO:0003101","UMLS:C5551428","MEDDRA:10043353","MEDDRA:10062124","NCIT:C7328","medgen:1790467"],"information_content":84.2}
{"id":"MONDO:0003689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hemolytic anemia","equivalent_identifiers":["MONDO:0003689","DOID:589","UMLS:C0002881","UMLS:C4020827","MESH:D000745","MEDDRA:10010489","MEDDRA:10019880","MEDDRA:10019881","MEDDRA:10019882","MEDDRA:10019885","MEDDRA:10019886","MEDDRA:10054399","MEDDRA:10055202","MEDDRA:10060893","MEDDRA:10073793","NCIT:C34379","SNOMEDCT:38911009","SNOMEDCT:42601008","medgen:1919","ICD10:D58.9","ICD9:282","HP:0004804"],"information_content":73.8}
{"id":"MONDO:0003709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agoraphobia","equivalent_identifiers":["MONDO:0003709","DOID:593","EFO:1001872","UMLS:C0001818","MESH:D000379","MEDDRA:10001502","MEDDRA:10016279","NCIT:C34362","SNOMEDCT:247830007","SNOMEDCT:70691001","medgen:175","icd11.foundation:530592394","ICD10:F40.0","HP:0000756"],"information_content":95.4}
{"id":"MONDO:0003749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal disorder","equivalent_identifiers":["MONDO:0003749","DOID:6050","EFO:0009544","UMLS:C0014852","UMLS:C0151970","MESH:D004935","MEDDRA:10015379","MEDDRA:10015380","MEDDRA:10015451","MEDDRA:10015472","MEDDRA:10030165","MEDDRA:10030166","MEDDRA:10030201","MEDDRA:10030203","MEDDRA:10045302","MEDDRA:10045323","MEDDRA:10045327","MEDDRA:10045781","MEDDRA:10045815","MEDDRA:10055486","MEDDRA:10056090","MEDDRA:10056098","MEDDRA:10061318","NCIT:C3027","SNOMEDCT:30811009","SNOMEDCT:37657006","medgen:8693","ICD10:K22.9","ICD9:530.9","HP:0004791"],"information_content":62.1}
{"id":"MONDO:0003757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paraplegia","equivalent_identifiers":["MONDO:0003757","DOID:607","EFO:0009679","UMLS:C0030486","MESH:D010264","MEDDRA:10024131","MEDDRA:10033814","MEDDRA:10033892","MEDDRA:10050045","NCIT:C50687","SNOMEDCT:60389000","medgen:45323","icd11.foundation:1212533558","ICD10:G82.2","ICD9:344.1","HP:0010550"],"information_content":67.9}
{"id":"MONDO:0003781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchitis","equivalent_identifiers":["MONDO:0003781","DOID:6132","EFO:0009661","UMLS:C0006277","MESH:D001991","MEDDRA:10006451","MEDDRA:10006461","NCIT:C2911","SNOMEDCT:32398004","medgen:2736","icd11.foundation:11753425","ICD10:J20","ICD10:J40","ICD10:J42","ICD9:466.0","ICD9:490","ICD9:491","HP:0012387"],"information_content":86.3}
{"id":"MONDO:0003783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphopenia","equivalent_identifiers":["MONDO:0003783","DOID:614","UMLS:C0024312","UMLS:C0300946","UMLS:C0853986","MESH:D008231","MEDDRA:10025256","MEDDRA:10025259","MEDDRA:10025278","MEDDRA:10025327","MEDDRA:10091012","NCIT:C26823","SNOMEDCT:48813009","medgen:7418","icd11.foundation:298296736","ICD10:D72.810","ICD9:288.51","HP:0001888"],"information_content":90.9}
{"id":"MONDO:0003785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukopenia","equivalent_identifiers":["MONDO:0003785","DOID:615","EFO:0004233","UMLS:C0023530","UMLS:C0750394","MESH:D007970","MEDDRA:10011982","MEDDRA:10024283","MEDDRA:10024285","MEDDRA:10024384","MEDDRA:10047942","MEDDRA:10048552","MEDDRA:10049182","MEDDRA:10051617","MEDDRA:10056731","MEDDRA:10068177","MEDDRA:10068178","NCIT:C26816","SNOMEDCT:419188005","SNOMEDCT:84828003","medgen:6073","ICD10:D72.819","ICD9:288.50","HP:0001882"],"information_content":67.7}
{"id":"MONDO:0003789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary papillary renal cell carcinoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0003789","DOID:6163","OMIM:605074","orphanet:47044","UMLS:C0879257","UMLS:C1336839","MEDDRA:10067943","NCIT:C27886","NCIT:C9222","SNOMEDCT:715561008","medgen:163907","HP:0011797"],"information_content":90.9}
{"id":"MONDO:0003795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian small cell carcinoma","equivalent_identifiers":["MONDO:0003795","DOID:6179","orphanet:370396","EFO:1000431","UMLS:C2212006","NCIT:C27390","SNOMEDCT:770601003","medgen:389177"],"information_content":89.4}
{"id":"MONDO:0003799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conjunctivitis","equivalent_identifiers":["MONDO:0003799","DOID:6195","EFO:0009450","UMLS:C0009763","UMLS:C1864156","MESH:D003231","MEDDRA:10010741","MEDDRA:10010751","MEDDRA:10010757","NCIT:C34504","SNOMEDCT:9826008","medgen:1093","icd11.foundation:831696556","ICD10:H10","ICD9:372.30","HP:0000509"],"information_content":76.2}
{"id":"MONDO:0003825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kidney oncocytoma","equivalent_identifiers":["MONDO:0003825","DOID:6245","EFO:1000315","UMLS:C0346255","MESH:C537750","MEDDRA:10050176","NCIT:C4526","SNOMEDCT:254922006","medgen:91094","HP:0011798"],"information_content":92.8}
{"id":"MONDO:0003832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement deficiency","equivalent_identifiers":["MONDO:0003832","DOID:626","orphanet:459345","UMLS:C0272242","UMLS:C5197806","UMLS:C5891164","MESH:D000081208","MEDDRA:10075551","NCIT:C4691","SNOMEDCT:24743004","medgen:82898","HP:0004431"],"information_content":75.8}
{"id":"MONDO:0003845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corpus callosum lipoma","equivalent_identifiers":["MONDO:0003845","DOID:6294","UMLS:C1333160","MEDDRA:10090789","NCIT:C5438","medgen:272510","HP:0006931"],"information_content":92.8}
{"id":"MONDO:0003865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acral lentiginous melanoma","equivalent_identifiers":["MONDO:0003865","DOID:6367","UMLS:C0346037","MEDDRA:10000583","NCIT:C4022","SNOMEDCT:16974005","SNOMEDCT:254732008","medgen:87530","HP:0012060"],"information_content":86.3}
{"id":"MONDO:0003878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant choroid melanoma","equivalent_identifiers":["MONDO:0003878","DOID:6438","UMLS:C0346388","MEDDRA:10008773","MEDDRA:10027151","NCIT:C4561","SNOMEDCT:255021005","medgen:138064","HP:0012054"],"information_content":85.5}
{"id":"MONDO:0003901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar hemangioblastoma","equivalent_identifiers":["MONDO:0003901","DOID:6500","UMLS:C1332900","NCIT:C5146","SNOMEDCT:1351890004","medgen:234108","HP:0006880"],"information_content":100.0}
{"id":"MONDO:0003912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant ciliary body melanoma","equivalent_identifiers":["MONDO:0003912","DOID:6524","UMLS:C0346379","MEDDRA:10081428","NCIT:C4558","SNOMEDCT:255015006","medgen:138062","HP:0012055"],"information_content":87.2}
{"id":"MONDO:0003924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal adenoma","equivalent_identifiers":["MONDO:0003924","DOID:0050891","DOID:656","EFO:0003104","UMLS:C0206667","MESH:D018246","MEDDRA:10001232","MEDDRA:10001323","NCIT:C9003","SNOMEDCT:1156661006","SNOMEDCT:255036008","SNOMEDCT:302826002","medgen:61654","HP:0008256"],"information_content":78.5}
{"id":"MONDO:0003937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylitis","equivalent_identifiers":["MONDO:0003937","DOID:6590","UMLS:C0029644","UMLS:C0038012","MESH:D013166","MEDDRA:10041673","MEDDRA:10045966","MEDDRA:10061371","SNOMEDCT:399096009","SNOMEDCT:84172003","medgen:11560","ICD10:M46","ICD9:720.8","HP:0033631"],"information_content":88.2}
{"id":"MONDO:0003996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"basal ganglia disorder","equivalent_identifiers":["MONDO:0003996","DOID:679","EFO:0009533","UMLS:C0004782","UMLS:C4520981","MESH:D001480","SNOMEDCT:70835005","medgen:1619147","HP:0002134"],"information_content":69.7}
{"id":"MONDO:0004026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin tag","equivalent_identifiers":["MONDO:0004026","DOID:6873","UMLS:C0037293","UMLS:C1384410","UMLS:C5886749","MEDDRA:10000591","MEDDRA:10040928","MEDDRA:10060716","NCIT:C3374","NCIT:C8311","SNOMEDCT:201091002","SNOMEDCT:31069005","SNOMEDCT:80801001","medgen:11452","HP:0010609"],"information_content":95.4}
{"id":"MONDO:0004038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dental enamel hypoplasia","equivalent_identifiers":["MONDO:0004038","DOID:693","EFO:1001304","UMLS:C0011351","UMLS:C1851854","UMLS:C3550640","UMLS:C4280456","UMLS:C4280457","MESH:D003744","MEDDRA:10014577","MEDDRA:10021071","NCIT:C34529","SNOMEDCT:26597004","SNOMEDCT:699382004","SNOMEDCT:699421005","medgen:3730","HP:0006297"],"information_content":78.8}
{"id":"MONDO:0004064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iris melanoma","equivalent_identifiers":["MONDO:0004064","DOID:6994","UMLS:C0346373","MEDDRA:10073086","NCIT:C9088","SNOMEDCT:255012009","medgen:87559","HP:0011524"],"information_content":86.3}
{"id":"MONDO:0004095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B-cell neoplasm","equivalent_identifiers":["MONDO:0004095","DOID:707","UMLS:C0079731","UMLS:C5975716","MESH:D016393","MEDDRA:10003899","MEDDRA:10003901","MEDDRA:10025320","MEDDRA:10084346","NCIT:C27907","SNOMEDCT:109979007","SNOMEDCT:413616009","medgen:86953","HP:0012191"],"information_content":54.2}
{"id":"MONDO:0004114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary bladder small cell neuroendocrine carcinoma","equivalent_identifiers":["MONDO:0004114","DOID:7132","orphanet:284400","EFO:1000129","UMLS:C1332564","UMLS:CN202866","NCIT:C9461","SNOMEDCT:718604008","medgen:231950"],"information_content":88.2}
{"id":"MONDO:0004126","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroiditis","equivalent_identifiers":["MONDO:0004126","DOID:7166","UMLS:C0040147","MESH:D013966","MEDDRA:10043778","MEDDRA:10043783","MEDDRA:10043785","NCIT:C26894","SNOMEDCT:82119001","medgen:21548","icd11.foundation:587793334","ICD10:E06","ICD9:245","HP:0100646"],"information_content":79.0}
{"id":"MONDO:0004132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anal canal squamous cell carcinoma","equivalent_identifiers":["MONDO:0004132","DOID:7177","orphanet:424019","UMLS:C1332262","NCIT:C7469","medgen:233979","icd11.foundation:585238371","HP:0030438"],"information_content":87.2}
{"id":"MONDO:0004139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"normocytic anemia","equivalent_identifiers":["MONDO:0004139","DOID:720","UMLS:C0085577","MEDDRA:10002070","MEDDRA:10002302","MEDDRA:10029784","MEDDRA:10029785","NCIT:C35142","SNOMEDCT:300980002","medgen:39310","HP:0001897"],"information_content":70.0}
{"id":"MONDO:0004183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"axonal neuropathy","equivalent_identifiers":["MONDO:0004183","DOID:7319","UMLS:C0270921","UMLS:C1263857","MEDDRA:10003882","NCIT:C27301","SNOMEDCT:128208007","SNOMEDCT:60703000","medgen:266071","HP:0003477"],"information_content":88.2}
{"id":"MONDO:0004187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular fasciitis","equivalent_identifiers":["MONDO:0004187","DOID:7327","orphanet:477742","UMLS:C0410005","MEDDRA:10065988","NCIT:C3827","SNOMEDCT:400138001","SNOMEDCT:703616008","medgen:96076","icd11.foundation:789101380","ICD10:M72.4"],"information_content":84.2}
{"id":"MONDO:0004201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary hypoplasia","equivalent_identifiers":["MONDO:0004201","DOID:7378","UMLS:C0948740","UMLS:C1859775","MEDDRA:10051944","NCIT:C27343","medgen:215300","HP:0010627"],"information_content":95.4}
{"id":"MONDO:0004216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pineal region germinoma","equivalent_identifiers":["MONDO:0004216","DOID:7428","orphanet:91352","UMLS:C0854912","MEDDRA:10035052","NCIT:C8712","medgen:208928"],"information_content":100.0}
{"id":"MONDO:0004234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic lymphoproliferative disorder of NK-cells","equivalent_identifiers":["MONDO:0004234","DOID:7465","orphanet:512017","UMLS:C1512709","NCIT:C39591","SNOMEDCT:722955006","medgen:268922","icd11.foundation:921755282"],"information_content":100.0}
{"id":"MONDO:0004241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Osgood-Schlatter disease","equivalent_identifiers":["MONDO:0004241","DOID:7489","orphanet:97335","UMLS:C0029376","UMLS:C2316563","MEDDRA:10031130","MEDDRA:10031238","NCIT:C34874","SNOMEDCT:430506003","SNOMEDCT:72047008","medgen:10489","ICD10:M92.52","HP:0010890"],"information_content":100.0}
{"id":"MONDO:0004247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Peptic Ulcer","equivalent_identifiers":["MONDO:0004247","DOID:750","UMLS:C0030920","MESH:D010437","MEDDRA:10017886","MEDDRA:10018053","MEDDRA:10034341","MEDDRA:10034343","MEDDRA:10034360","MEDDRA:10034367","MEDDRA:10034369","MEDDRA:10037287","MEDDRA:10042834","MEDDRA:10045305","MEDDRA:10045328","MEDDRA:10045342","NCIT:C3318","SNOMEDCT:13200003","medgen:45384","ICD10:K27","ICD9:533","HP:0004398"],"information_content":84.8}
{"id":"MONDO:0004251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"small intestine neoplasm","equivalent_identifiers":["MONDO:0004251","DOID:7505","UMLS:C0345832","MEDDRA:10085929","NCIT:C4432","SNOMEDCT:126832004","medgen:91055","HP:0100833"],"information_content":66.1}
{"id":"MONDO:0004258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"female orgasmic disorder","equivalent_identifiers":["MONDO:0004258","DOID:7518","UMLS:C0033948","UMLS:C4022677","MEDDRA:10016405","MEDDRA:10022032","NCIT:C34958","SNOMEDCT:60103007","medgen:892329","ICD10:F52.31","ICD9:302.73","HP:0030015"],"information_content":100.0}
{"id":"MONDO:0004286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic intraductal papillary-mucinous neoplasm","equivalent_identifiers":["MONDO:0004286","DOID:7575","UMLS:C1266071","UMLS:C4511687","MEDDRA:10090891","NCIT:C38342","SNOMEDCT:128689007","SNOMEDCT:690771000119106","medgen:1373306","HP:6000657"],"information_content":83.1}
{"id":"MONDO:0004323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Muscle Atrophy","equivalent_identifiers":["MONDO:0004323","DOID:767","UMLS:C0026846","UMLS:C0234958","UMLS:C0270948","UMLS:C0541794","UMLS:C1843479","MESH:D009133","MEDDRA:10002027","MEDDRA:10002028","MEDDRA:10003703","MEDDRA:10003718","MEDDRA:10012149","MEDDRA:10028289","MEDDRA:10028298","MEDDRA:10028348","NCIT:C94834","SNOMEDCT:74035001","SNOMEDCT:88092000","medgen:892680","HP:0003202"],"information_content":75.7}
{"id":"MONDO:0004335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digestive system disorder","equivalent_identifiers":["MONDO:0004335","DOID:77","EFO:0000405","UMLS:C0012242","UMLS:C0017178","UMLS:C4023588","MESH:D004066","MESH:D005767","MEDDRA:10013225","MEDDRA:10017876","MEDDRA:10017922","MEDDRA:10017944","MEDDRA:10017945","MEDDRA:10017947","NCIT:C2990","SNOMEDCT:119292006","SNOMEDCT:53619000","medgen:892790","ICD10:K92.9","ICD9:520-579.99","HP:0011024"],"information_content":46.7}
{"id":"MONDO:0004348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal telangiectasia","equivalent_identifiers":["MONDO:0004348","DOID:7736","UMLS:C0154835","MEDDRA:10038899","SNOMEDCT:84884003","medgen:57598","ICD9:362.15","HP:0007763"],"information_content":95.4}
{"id":"MONDO:0004375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"end stage renal failure","equivalent_identifiers":["MONDO:0004375","DOID:783","EFO:0009909","UMLS:C2316810","MEDDRA:10076412","NCIT:C9439","SNOMEDCT:433146000","SNOMEDCT:46177005","medgen:384526","ICD9:585.6","HP:0003774"],"information_content":92.8}
{"id":"MONDO:0004425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperthyroidism","equivalent_identifiers":["MONDO:0004425","DOID:7998","EFO:0009189","UMLS:C0020550","UMLS:C3714618","MESH:D006980","MEDDRA:10020850","MEDDRA:10075899","MEDDRA:10088422","NCIT:C113145","NCIT:C3123","SNOMEDCT:34486009","medgen:6972","HP:0000836"],"information_content":79.3}
{"id":"MONDO:0004431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemarthrosis","equivalent_identifiers":["MONDO:0004431","DOID:801","EFO:1001344","UMLS:C0018924","MESH:D006395","MEDDRA:10018829","MEDDRA:10019409","MEDDRA:10019417","MEDDRA:10022750","MEDDRA:10055292","MEDDRA:10059609","MEDDRA:10060469","SNOMEDCT:81808003","medgen:5479","ICD10:M25.0","ICD9:719.1","HP:0005261"],"information_content":95.4}
{"id":"MONDO:0004450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carotid artery occlusion","equivalent_identifiers":["MONDO:0004450","DOID:807","UMLS:C0265101","UMLS:C0375275","MEDDRA:10007693","MEDDRA:10029999","MEDDRA:10048964","SNOMEDCT:266254007","SNOMEDCT:69798007","medgen:539079","ICD9:433.10","HP:0012474"],"information_content":100.0}
{"id":"MONDO:0004483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid gland oncocytic adenoma","equivalent_identifiers":["MONDO:0004483","DOID:8162","UMLS:C1336750","NCIT:C6042","medgen:237009","HP:0006781"],"information_content":100.0}
{"id":"MONDO:0004496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myocarditis","equivalent_identifiers":["MONDO:0004496","DOID:820","EFO:0009609","UMLS:C0027059","MESH:D009205","MEDDRA:10028606","MEDDRA:10028613","MEDDRA:10028619","NCIT:C34831","SNOMEDCT:50920009","medgen:44553","icd11.foundation:1018829714","ICD10:I51.4","ICD9:429.0","KEGG.DISEASE:05416","HP:0012819"],"information_content":83.6}
{"id":"MONDO:0004514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic rhinitis","equivalent_identifiers":["MONDO:0004514","DOID:8252","UMLS:C0008711","MEDDRA:10009129","NCIT:C34479","SNOMEDCT:86094006","medgen:3086","icd11.foundation:1346915097","ICD10:J31.0","ICD9:472.0","HP:0002257"],"information_content":90.9}
{"id":"MONDO:0004555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Angiomyolipoma","equivalent_identifiers":["MONDO:0004555","DOID:8411","EFO:1000312","UMLS:C0241961","MEDDRA:10077284","NCIT:C3734","NCIT:C3888","SNOMEDCT:254921004","medgen:69146","HP:0006772"],"information_content":85.5}
{"id":"MONDO:0004565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal obstruction","equivalent_identifiers":["MONDO:0004565","DOID:8437","UMLS:C0021843","MESH:D007415","MEDDRA:10006055","MEDDRA:10022687","MEDDRA:10022690","MEDDRA:10029937","MEDDRA:10029958","MEDDRA:10045979","NCIT:C9175","SNOMEDCT:81060008","medgen:43933","ICD10:K56.609","ICD9:560.9","HP:0005214"],"information_content":79.6}
{"id":"MONDO:0004567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ileus","equivalent_identifiers":["MONDO:0004567","DOID:8440","UMLS:C1258215","UMLS:C4019039","MESH:D045823","MEDDRA:10021328","MEDDRA:10021330","MEDDRA:10021332","MEDDRA:10052736","NCIT:C37979","SNOMEDCT:710572000","medgen:219874","HP:0002595"],"information_content":83.1}
{"id":"MONDO:0004568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paralytic ileus","equivalent_identifiers":["MONDO:0004568","DOID:8442","UMLS:C0030446","MEDDRA:10001426","MEDDRA:10021333","MEDDRA:10033812","MEDDRA:10033813","MEDDRA:10033824","MEDDRA:10033841","NCIT:C93045","SNOMEDCT:55525008","medgen:18293","icd11.foundation:1868011045","ICD10:K56.0","ICD9:560.1","HP:0002590"],"information_content":100.0}
{"id":"MONDO:0004570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Volvulus","equivalent_identifiers":["MONDO:0004570","DOID:8445","UMLS:C0042961","MESH:D045822","MEDDRA:10047697","MEDDRA:10047698","NCIT:C98963","SNOMEDCT:90738007","SNOMEDCT:9707006","medgen:21892","ICD10:K56.2","ICD9:560.2","HP:0002580"],"information_content":100.0}
{"id":"MONDO:0004573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ariboflavinosis","equivalent_identifiers":["MONDO:0004573","DOID:8454","OMIM:615026","UMLS:C0035528","UMLS:C5779638","UMLS:C5886861","MESH:D012257","MEDDRA:10003095","MEDDRA:10039118","MEDDRA:10047612","SNOMEDCT:20307000","medgen:1830329","ICD10:E53.0","ICD9:266.0","HP:0100504"],"information_content":95.4}
{"id":"MONDO:0004574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyridoxine deficiency anemia","equivalent_identifiers":["MONDO:0004574","DOID:8455","UMLS:C0272013","UMLS:C0936215","UMLS:C1527330","UMLS:C5886923","MESH:D026681","MEDDRA:10002081","MEDDRA:10002278","MEDDRA:10002310","MEDDRA:10037671","MEDDRA:10037672","MEDDRA:10047617","MEDDRA:10054316","MEDDRA:10055714","MEDDRA:10055721","MEDDRA:10055740","NCIT:C85221","SNOMEDCT:386080007","SNOMEDCT:86448001","medgen:543733","ICD10:E53.1","ICD9:266.1","HP:0008326"],"information_content":100.0}
{"id":"MONDO:0004577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal ulcer","equivalent_identifiers":["MONDO:0004577","DOID:8463","UMLS:C0010043","MESH:D003320","MEDDRA:10011059","MEDDRA:10011060","MEDDRA:10045295","MEDDRA:10048492","NCIT:C50515","SNOMEDCT:91514001","medgen:40486","icd11.foundation:2089700977","ICD10:H16.0","ICD9:370.0","HP:0012804"],"information_content":87.2}
{"id":"MONDO:0004579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinoschisis","equivalent_identifiers":["MONDO:0004579","DOID:8465","UMLS:C0152439","MESH:D041441","MEDDRA:10038939","MEDDRA:10038940","MEDDRA:10061492","NCIT:C85046","SNOMEDCT:44268007","medgen:56292","icd11.foundation:1118046584","ICD10:H33.10","ICD9:361.10","HP:0030502"],"information_content":88.2}
{"id":"MONDO:0004580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal degeneration","equivalent_identifiers":["MONDO:0004580","DOID:8466","UMLS:C0035304","MESH:D012162","MEDDRA:10012159","MEDDRA:10038845","NCIT:C34979","SNOMEDCT:95695004","medgen:48432","HP:0000546"],"information_content":61.0}
{"id":"MONDO:0004585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyhydramnios","equivalent_identifiers":["MONDO:0004585","DOID:8488","UMLS:C0020224","UMLS:C3888576","MESH:D006831","MEDDRA:10020486","MEDDRA:10036079","MEDDRA:10075867","NCIT:C92848","SNOMEDCT:86203003","medgen:6936","ICD10:O40","ICD9:657.0","HP:0001561"],"information_content":100.0}
{"id":"MONDO:0004588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"night blindness","equivalent_identifiers":["MONDO:0004588","DOID:8499","UMLS:C0028077","UMLS:C4020885","MESH:D009755","MEDDRA:10005181","MEDDRA:10029404","MEDDRA:10029407","MEDDRA:10029862","MEDDRA:10047523","NCIT:C34850","SNOMEDCT:65194006","medgen:10349","icd11.foundation:205882698","ICD10:H53.6","ICD9:368.6","HP:0000662"],"information_content":79.6}
{"id":"MONDO:0004596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cor pulmonale","equivalent_identifiers":["MONDO:0004596","DOID:8515","UMLS:C0034072","MESH:D011660","MEDDRA:10010968","MEDDRA:10010971","MEDDRA:10013106","MEDDRA:10019275","NCIT:C196110","SNOMEDCT:274096000","SNOMEDCT:83291003","medgen:18765","icd11.foundation:738218522","ICD10:I27.81","HP:0001648"],"information_content":88.2}
{"id":"MONDO:0004617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recurrent hypersomnia","equivalent_identifiers":["MONDO:0004617","DOID:8619","UMLS:C0020524","UMLS:C0751226","UMLS:C4024925","MESH:D006970","SNOMEDCT:194439006","SNOMEDCT:426451004","medgen:155520","ICD10:G47.13","ICD9:327.13","HP:0007200"],"information_content":81.7}
{"id":"MONDO:0004627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenitis","equivalent_identifiers":["MONDO:0004627","DOID:8643","UMLS:C0013298","MESH:D004382","MEDDRA:10013864","NCIT:C94409","SNOMEDCT:72007001","medgen:4419","icd11.foundation:1595026136","ICD10:K29.8","ICD9:535.6","HP:0033117"],"information_content":90.9}
{"id":"MONDO:0004643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid leukemia","equivalent_identifiers":["MONDO:0004643","DOID:8692","UMLS:C0023470","MESH:D007951","MEDDRA:10024299","MEDDRA:10024300","MEDDRA:10024307","MEDDRA:10024308","MEDDRA:10024335","MEDDRA:10024336","MEDDRA:10024348","MEDDRA:10024349","MEDDRA:10028530","MEDDRA:10028531","MEDDRA:10028549","MEDDRA:10028550","MEDDRA:10028555","MEDDRA:10028556","MEDDRA:10029550","MEDDRA:10029552","MEDDRA:10046039","MEDDRA:10046040","NCIT:C3172","SNOMEDCT:1163439000","SNOMEDCT:128934006","SNOMEDCT:188732008","SNOMEDCT:37810007","medgen:7320","ICD10:C92","ICD9:205","HP:0012324"],"information_content":60.5}
{"id":"MONDO:0004653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical chronic myeloid leukemia, BCR-ABL1 negative","equivalent_identifiers":["MONDO:0004653","DOID:0060597","orphanet:98824","UMLS:C0279549","UMLS:C1292772","MESH:D054438","MEDDRA:10028554","MEDDRA:10028559","MEDDRA:10042292","MEDDRA:10042295","MEDDRA:10054651","MEDDRA:10060421","NCIT:C3519","NCIT:C9129","SNOMEDCT:128826001","SNOMEDCT:277589003","medgen:266233","icd11.foundation:331838766","ICD10:C92.2","ICD9:205.2"],"information_content":87.2}
{"id":"MONDO:0004665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular sclerosis classical Hodgkin lymphoma","equivalent_identifiers":["MONDO:0004665","DOID:8838","orphanet:98843","EFO:0004708","UMLS:C0152268","MEDDRA:10020244","MEDDRA:10020254","MEDDRA:10020299","NCIT:C3518","SNOMEDCT:118608000","SNOMEDCT:52248008","medgen:101830","icd11.foundation:1995941600","ICD10:C81.1","ICD9:201.5"],"information_content":80.2}
{"id":"MONDO:0004669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"salivary gland cancer","equivalent_identifiers":["MONDO:0004669","DOID:8850","EFO:0003826","UMLS:C0036095","UMLS:C0153362","UMLS:C0220636","MESH:D012468","MEDDRA:10026445","MEDDRA:10026677","MEDDRA:10026684","MEDDRA:10039396","MEDDRA:10039397","MEDDRA:10039418","MEDDRA:10061497","MEDDRA:10061934","NCIT:C3811","SNOMEDCT:255072001","medgen:65079","ICD10:C08","ICD10:D11","ICD9:142.8","HP:0100684"],"information_content":65.1}
{"id":"MONDO:0004674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chorioretinitis","equivalent_identifiers":["MONDO:0004674","DOID:8886","UMLS:C0008513","MESH:D002825","MEDDRA:10008769","MEDDRA:10008771","MEDDRA:10086282","NCIT:C110923","SNOMEDCT:46627006","medgen:942","ICD9:363.20","HP:0012424"],"information_content":85.5}
{"id":"MONDO:0004684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plantar fibromatosis","equivalent_identifiers":["MONDO:0004684","DOID:8936","orphanet:199251","EFO:1000481","UMLS:C0158360","MESH:C537000","MESH:D000071380","MEDDRA:10035154","MEDDRA:10071740","MEDDRA:10087847","NCIT:C4680","SNOMEDCT:13370002","medgen:56385","ICD10:M72.2","ICD9:728.71"],"information_content":100.0}
{"id":"MONDO:0004686","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lattice corneal dystrophy","equivalent_identifiers":["MONDO:0004686","DOID:8943","UMLS:C0155127","MESH:C537935","MEDDRA:10024039","SNOMEDCT:1192004","SNOMEDCT:361199007","medgen:56355","icd11.foundation:1247885635","HP:0001149"],"information_content":90.9}
{"id":"MONDO:0004691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant polycystic kidney disease","equivalent_identifiers":["MONDO:0004691","DOID:898","orphanet:730","EFO:1001496","UMLS:C0085413","MESH:D016891","MEDDRA:10036046","NCIT:C84578","SNOMEDCT:765330003","medgen:88404","icd11.foundation:91220434","ICD10:Q61.3","ICD9:753.12"],"information_content":86.3}
{"id":"MONDO:0004729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyskinesia of esophagus","equivalent_identifiers":["MONDO:0004729","DOID:9192","EFO:1001785","UMLS:C0014858","UMLS:C0014863","UMLS:C0859977","UMLS:C1442913","UMLS:C1442915","UMLS:C1442916","MESH:D015154","MESH:D015155","MEDDRA:10013924","MEDDRA:10013925","MEDDRA:10013926","MEDDRA:10015390","MEDDRA:10015469","MEDDRA:10030184","MEDDRA:10030225","MEDDRA:10041383","MEDDRA:10042751","MEDDRA:10055456","MEDDRA:10056087","MEDDRA:10056089","MEDDRA:10072419","MEDDRA:10072420","MEDDRA:10085601","MEDDRA:10085602","SNOMEDCT:266434009","SNOMEDCT:79962008","medgen:41868","ICD10:K22.4","ICD9:530.5","HP:0025271"],"information_content":100.0}
{"id":"MONDO:0004730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"speech disorder","equivalent_identifiers":["MONDO:0004730","DOID:92","UMLS:C0037822","UMLS:C3687424","MESH:D013064","MEDDRA:10013269","MEDDRA:10041466","NCIT:C5041","SNOMEDCT:47004009","medgen:11531","HP:0002167"],"information_content":74.1}
{"id":"MONDO:0004731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central sleep apnea syndrome","equivalent_identifiers":["MONDO:0004731","DOID:9220","OMIM:107640","UMLS:C0520680","UMLS:C3887547","MESH:D020182","MEDDRA:10007975","MEDDRA:10055576","NCIT:C116046","NCIT:C27169","SNOMEDCT:27405005","medgen:854402","HP:0010536"],"information_content":88.2}
{"id":"MONDO:0004737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"homocystinuria","equivalent_identifiers":["MONDO:0004737","DOID:9263","UMLS:C0019880","MESH:D006712","MEDDRA:10020365","NCIT:C84765","SNOMEDCT:11282001","medgen:42485","ICD10:E72.11","HP:0002156"],"information_content":81.7}
{"id":"MONDO:0004745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"priapism","equivalent_identifiers":["MONDO:0004745","DOID:9286","orphanet:140949","UMLS:C0033117","MESH:D011317","MEDDRA:10036661","NCIT:C85022","SNOMEDCT:6273006","medgen:19462","icd11.foundation:1983776037","ICD10:N48.3","ICD9:607.3","HP:0200023"],"information_content":95.4}
{"id":"MONDO:0004747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft lip","equivalent_identifiers":["MONDO:0004747","DOID:9296","EFO:0003959","UMLS:C0008924","UMLS:C4321245","MESH:D002971","MEDDRA:10009259","MEDDRA:10009268","MEDDRA:10019159","MEDDRA:10019161","MEDDRA:10024547","MEDDRA:10049861","NCIT:C87175","SNOMEDCT:80281008","medgen:1370297","ICD10:Q36","ICD9:749.1","ICD9:749.11","HP:0000204"],"information_content":80.9}
{"id":"MONDO:0004750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"language disorder","equivalent_identifiers":["MONDO:0004750","DOID:93","UMLS:C0023015","MESH:D007806","MEDDRA:10074869","NCIT:C97155","SNOMEDCT:62305002","medgen:44069","HP:0002463"],"information_content":80.2}
{"id":"MONDO:0004754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rectal prolapse","equivalent_identifiers":["MONDO:0004754","DOID:9307","UMLS:C0034888","MESH:D012005","MEDDRA:10038077","NCIT:C34973","SNOMEDCT:57773001","medgen:11151","icd11.foundation:231914102","ICD10:K62.3","ICD9:569.1","HP:0002035"],"information_content":92.8}
{"id":"MONDO:0004758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scotoma","equivalent_identifiers":["MONDO:0004758","DOID:9335","UMLS:C0029657","UMLS:C0036454","UMLS:C0344233","MESH:D012607","MEDDRA:10039729","NCIT:C118737","SNOMEDCT:23388006","SNOMEDCT:81016008","medgen:19902","ICD10:H53.42","ICD10:H53.45","ICD9:368.42","ICD9:368.44","HP:0000575"],"information_content":86.3}
{"id":"MONDO:0004763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carotid artery dissection","equivalent_identifiers":["MONDO:0004763","DOID:9348","UMLS:C0338585","MEDDRA:10050403","NCIT:C125662","SNOMEDCT:720626009","medgen:488844","ICD10:I77.71","ICD9:443.21","HP:0012158"],"information_content":88.2}
{"id":"MONDO:0004766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"status asthmaticus","equivalent_identifiers":["MONDO:0004766","DOID:9362","EFO:0008590","UMLS:C0038218","MESH:D013224","MEDDRA:10003562","MEDDRA:10041961","MEDDRA:10064823","NCIT:C122577","SNOMEDCT:708090002","medgen:11584","ICD9:493.91","HP:0012653"],"information_content":100.0}
{"id":"MONDO:0004768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconjunctivitis","equivalent_identifiers":["MONDO:0004768","DOID:9368","UMLS:C0022573","MESH:D007637","MEDDRA:10023348","MEDDRA:10023352","NCIT:C34744","SNOMEDCT:88151007","medgen:44014","ICD10:H16.2","ICD9:370.40","HP:0001096"],"information_content":86.3}
{"id":"MONDO:0004770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exophthalmos","equivalent_identifiers":["MONDO:0004770","UMLS:C0015300","UMLS:C1837760","UMLS:C1848490","UMLS:C1862425","MESH:D005094","MEDDRA:10006548","MEDDRA:10015683","MEDDRA:10015685","MEDDRA:10015687","MEDDRA:10036905","NCIT:C118763","NCIT:C87114","SNOMEDCT:18265008","medgen:41917","HP:0000520"],"information_content":84.8}
{"id":"MONDO:0004773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iridocyclitis","equivalent_identifiers":["MONDO:0004773","DOID:9383","UMLS:C0007832","UMLS:C0022073","UMLS:C0154909","MESH:D015863","MEDDRA:10022941","MEDDRA:10036702","MEDDRA:10045985","NCIT:C34736","SNOMEDCT:12630008","SNOMEDCT:77971008","medgen:43961","ICD10:H20.01","ICD9:364.01","ICD9:364.2","HP:0001094"],"information_content":87.2}
{"id":"MONDO:0004779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epididymitis","equivalent_identifiers":["MONDO:0004779","DOID:9402","UMLS:C0014534","MESH:D004823","MEDDRA:10015000","MEDDRA:10015003","NCIT:C12328","SNOMEDCT:31070006","medgen:4986","ICD10:N45.1","HP:0000031"],"information_content":79.9}
{"id":"MONDO:0004782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes insipidus","equivalent_identifiers":["MONDO:0004782","DOID:9409","UMLS:C0011848","MESH:D003919","MEDDRA:10012599","NCIT:C43263","SNOMEDCT:1296758008","SNOMEDCT:15771004","medgen:8349","ICD10:E23.2","ICD9:253.5","HP:0000873"],"information_content":84.2}
{"id":"MONDO:0004785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharitis","equivalent_identifiers":["MONDO:0004785","DOID:9423","EFO:0009536","UMLS:C0005741","UMLS:C0155181","UMLS:C0339063","UMLS:C0686366","MESH:D001762","MEDDRA:10005148","MEDDRA:10005150","MEDDRA:10007908","MEDDRA:10021962","MEDDRA:10045959","MEDDRA:10070247","NCIT:C112183","SNOMEDCT:1231722004","SNOMEDCT:231796003","SNOMEDCT:41446000","medgen:598","ICD10:H01.0","ICD9:373.0","ICD9:373.4","HP:0000498"],"information_content":80.9}
{"id":"MONDO:0004789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholangitis","equivalent_identifiers":["MONDO:0004789","DOID:9446","UMLS:C0008311","MESH:D002761","MEDDRA:10008604","MEDDRA:10008608","MEDDRA:10021952","NCIT:C26718","SNOMEDCT:82403002","medgen:40258","icd11.foundation:1712178777","ICD10:K83.0","ICD9:576.1","HP:0030151"],"information_content":77.3}
{"id":"MONDO:0004790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fatty Liver","equivalent_identifiers":["MONDO:0004790","DOID:9452","UMLS:C0015695","UMLS:C2711227","MESH:D005234","MEDDRA:10012147","MEDDRA:10016261","MEDDRA:10016263","MEDDRA:10016264","MEDDRA:10019708","MEDDRA:10021947","MEDDRA:10024680","MEDDRA:10024681","MEDDRA:10024682","MEDDRA:10024685","MEDDRA:10024686","MEDDRA:10027442","MEDDRA:10041970","MEDDRA:10076331","NCIT:C150596","SNOMEDCT:197321007","SNOMEDCT:442191002","medgen:398225","ICD10:K70.0","ICD9:571.0","HP:0001397"],"information_content":83.6}
{"id":"MONDO:0004795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otitis externa","equivalent_identifiers":["MONDO:0004795","DOID:9463","EFO:0009560","UMLS:C0021355","UMLS:C0029878","MESH:D010032","MEDDRA:10021919","MEDDRA:10021920","MEDDRA:10033072","MEDDRA:10052558","MEDDRA:10065837","MEDDRA:10082612","NCIT:C3299","NCIT:C79601","SNOMEDCT:3135009","SNOMEDCT:86981007","medgen:10505","icd11.foundation:1303990434","ICD9:380.1","HP:0410017"],"information_content":84.8}
{"id":"MONDO:0004802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary eosinophilia","equivalent_identifiers":["MONDO:0004802","DOID:9498","UMLS:C0034068","UMLS:C5552799","MESH:D011657","MEDDRA:10037382","MEDDRA:10037412","SNOMEDCT:367542003","medgen:46208","icd11.foundation:544479555","ICD9:518.3","HP:0032071"],"information_content":95.4}
{"id":"MONDO:0004822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchiectasis","equivalent_identifiers":["MONDO:0004822","DOID:9563","OMIM.PS:211400","UMLS:C0006267","MESH:D001987","MEDDRA:10006445","MEDDRA:10006446","NCIT:C84475","SNOMEDCT:12295008","medgen:14234","icd11.foundation:1935524933","ICD10:J47","ICD9:494","HP:0002110"],"information_content":88.2}
{"id":"MONDO:0004830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fasciitis","equivalent_identifiers":["MONDO:0004830","DOID:9598","UMLS:C0015645","MESH:D005208","MEDDRA:10016228","MEDDRA:10016230","MEDDRA:10016231","MEDDRA:10016238","NCIT:C50559","SNOMEDCT:36948007","medgen:4658","ICD10:M72.9","ICD9:729.4","HP:0100537"],"information_content":85.5}
{"id":"MONDO:0004842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stomatitis","equivalent_identifiers":["MONDO:0004842","DOID:9637","EFO:0009688","UMLS:C0038362","UMLS:C0149704","MESH:D013280","MEDDRA:10028130","MEDDRA:10042128","MEDDRA:10067244","NCIT:C26887","SNOMEDCT:20607006","SNOMEDCT:61170000","medgen:52511","HP:0010280"],"information_content":79.6}
{"id":"MONDO:0004843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nystagmus","equivalent_identifiers":["MONDO:0004843","DOID:9650","UMLS:C0028738","MESH:D009759","MEDDRA:10029864","MEDDRA:10029868","MEDDRA:10029869","NCIT:C3282","SNOMEDCT:563001","medgen:45166","ICD10:H55.0","ICD9:379.50","HP:0000639"],"information_content":79.9}
{"id":"MONDO:0004844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leukokeratosis","equivalent_identifiers":["MONDO:0004844","DOID:9655","UMLS:C0023532","UMLS:C1112530","UMLS:C1704317","MESH:D007972","MEDDRA:10024392","MEDDRA:10024393","MEDDRA:10024396","MEDDRA:10024398","MEDDRA:10030982","MEDDRA:10052579","MEDDRA:10056766","NCIT:C3187","NCIT:C36262","SNOMEDCT:414603003","SNOMEDCT:773540001","SNOMEDCT:9187004","medgen:9738","ICD10:K13.21","ICD9:528.6","HP:0002745"],"information_content":82.6}
{"id":"MONDO:0004845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aphthous stomatitis","equivalent_identifiers":["MONDO:0004845","DOID:9663","UMLS:C0038363","UMLS:C1959869","UMLS:C2937365","MEDDRA:10002958","MEDDRA:10002959","MEDDRA:10007166","MEDDRA:10030960","MEDDRA:10042131","MEDDRA:10045287","MEDDRA:10045288","MEDDRA:10045372","MEDDRA:10066577","MEDDRA:10067589","MEDDRA:10084265","SNOMEDCT:110426005","SNOMEDCT:398870000","SNOMEDCT:426965005","SNOMEDCT:427617000","SNOMEDCT:722781002","medgen:20959","ICD9:528.2","HP:0011107"],"information_content":83.6}
{"id":"MONDO:0004846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"placental abruption","equivalent_identifiers":["MONDO:0004846","DOID:9667","EFO:1001754","UMLS:C0000821","UMLS:C0000832","MESH:D000033","MESH:D000037","MEDDRA:10000242","MEDDRA:10000267","MEDDRA:10036608","MEDDRA:10036610","MEDDRA:10043504","MEDDRA:10043505","MEDDRA:10053595","NCIT:C112857","NCIT:C26685","SNOMEDCT:405736009","SNOMEDCT:415105001","SNOMEDCT:54048003","medgen:49","ICD10:O20.0","ICD9:640.0","HP:0011419"],"information_content":100.0}
{"id":"MONDO:0004849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"emphysema","equivalent_identifiers":["MONDO:0004849","DOID:9675","EFO:0000464","UMLS:C0013990","UMLS:C0029607","UMLS:C0034067","MESH:D004646","MESH:D011656","MEDDRA:10014561","MEDDRA:10014563","MEDDRA:10086064","NCIT:C196764","NCIT:C3348","SNOMEDCT:49158009","SNOMEDCT:87433001","medgen:18764","ICD10:J43.8","ICD9:492.8","HP:0002097"],"information_content":86.3}
{"id":"MONDO:0004857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tendinitis","equivalent_identifiers":["MONDO:0004857","DOID:971","UMLS:C0039503","MEDDRA:10043232","MEDDRA:10043255","NCIT:C97141","SNOMEDCT:34840004","medgen:21094","HP:0025230"],"information_content":84.8}
{"id":"MONDO:0004868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biliary tract disorder","equivalent_identifiers":["MONDO:0004868","DOID:9741","EFO:0009534","UMLS:C0005424","UMLS:C0549613","MESH:D001660","MEDDRA:10004676","MEDDRA:10004677","MEDDRA:10045772","MEDDRA:10061008","SNOMEDCT:105997008","medgen:108201","ICD10:K83.9","ICD9:576.9","HP:0001080"],"information_content":66.7}
{"id":"MONDO:0004891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperopia","equivalent_identifiers":["MONDO:0004891","DOID:9834","UMLS:C0020490","MESH:D006956","MEDDRA:10020675","MEDDRA:10020690","MEDDRA:10024805","MEDDRA:10057906","SNOMEDCT:38101003","medgen:43780","ICD10:H52.0","ICD9:367.0","HP:0000540"],"information_content":89.4}
{"id":"MONDO:0004893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertropia","equivalent_identifiers":["MONDO:0004893","DOID:9837","UMLS:C0020575","MEDDRA:10020902","NCIT:C34716","SNOMEDCT:40608009","medgen:43790","icd11.foundation:1382376000","ICD10:H50.2","ICD9:378.31","HP:0025586"],"information_content":95.4}
{"id":"MONDO:0004895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"accommodative esotropia","equivalent_identifiers":["MONDO:0004895","DOID:9839","UMLS:C0155336","MEDDRA:10000393","SNOMEDCT:194112008","SNOMEDCT:419494007","medgen:102331","icd11.foundation:1512812109","ICD10:H50.43","ICD9:378.35","HP:0020046"],"information_content":90.9}
{"id":"MONDO:0004896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esotropia","equivalent_identifiers":["MONDO:0004896","DOID:9840","UMLS:C0014877","MESH:D004948","MEDDRA:10010891","MEDDRA:10010892","MEDDRA:10015475","MEDDRA:10015476","NCIT:C34596","SNOMEDCT:16596007","medgen:4550","icd11.foundation:459766644","ICD10:H50.0","ICD9:378.0","HP:0000565"],"information_content":82.6}
{"id":"MONDO:0004897","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotropia","equivalent_identifiers":["MONDO:0004897","DOID:9841","UMLS:C0152208","MEDDRA:10021130","MEDDRA:10056712","NCIT:C42086","SNOMEDCT:29491004","medgen:101826","icd11.foundation:1840811827","ICD9:378.32","HP:0025584"],"information_content":92.8}
{"id":"MONDO:0004901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lingual-facial-buccal dyskinesia","equivalent_identifiers":["MONDO:0004901","DOID:9854","UMLS:C0152115","MEDDRA:10031094","SNOMEDCT:49386006","medgen:57747","ICD10:G24.4","ICD9:333.82","HP:0002310"],"information_content":100.0}
{"id":"MONDO:0004907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia","equivalent_identifiers":["MONDO:0004907","DOID:987","orphanet:79364","UMLS:C0002170","MESH:D000505","MEDDRA:10001760","MEDDRA:10001768","MEDDRA:10001769","MEDDRA:10004082","MEDDRA:10019045","MEDDRA:10019050","NCIT:C50575","SNOMEDCT:278040002","SNOMEDCT:56317004","medgen:7982","icd11.foundation:1313926062","ICD10:L65.9","ICD9:704.0","HP:0001596"],"information_content":73.9}
{"id":"MONDO:0004910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitral valve prolapse","equivalent_identifiers":["MONDO:0004910","DOID:988","UMLS:C0026267","MESH:D008945","MEDDRA:10016786","MEDDRA:10027717","MEDDRA:10027730","MEDDRA:10036853","NCIT:C50655","SNOMEDCT:409712001","SNOMEDCT:8074002","medgen:7671","icd11.foundation:1085590500","HP:0001634"],"information_content":89.4}
{"id":"MONDO:0004913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alternating esotropia","equivalent_identifiers":["MONDO:0004913","DOID:9888","UMLS:C0152205","MEDDRA:10001855","SNOMEDCT:39837002","medgen:57515","icd11.foundation:935468618","ICD10:H50.05","ICD9:378.05","HP:0001137"],"information_content":100.0}
{"id":"MONDO:0004914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"celiac artery stenosis from compression by median arcuate ligament of diaphragm","equivalent_identifiers":["MONDO:0004914","DOID:9892","OMIM:116870","UMLS:C0152098","UMLS:C1861783","UMLS:C4020693","MESH:D000074742","MEDDRA:10007863","MEDDRA:10009838","MEDDRA:10083407","NCIT:C197856","SNOMEDCT:9250002","medgen:349361","ICD10:I77.4","ICD9:447.4","HP:0012327"],"information_content":100.0}
{"id":"MONDO:0004920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrocele","equivalent_identifiers":["MONDO:0004920","DOID:9912","EFO:1001859","UMLS:C1720771","MESH:D006848","MEDDRA:10020488","MEDDRA:10020502","MEDDRA:10088637","SNOMEDCT:26614003","SNOMEDCT:386152007","SNOMEDCT:55434001","medgen:318568","ICD10:N43","HP:0000034"],"information_content":88.2}
{"id":"MONDO:0004926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dacryocystitis","equivalent_identifiers":["MONDO:0004926","DOID:9938","UMLS:C0010930","MESH:D003607","MEDDRA:10011844","MEDDRA:10011845","MEDDRA:10011846","NCIT:C34521","SNOMEDCT:85777005","medgen:3686","icd11.foundation:1034960983","ICD10:H04.30","ICD9:375.30","HP:0000620"],"information_content":89.4}
{"id":"MONDO:0004927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dacryocystocele","equivalent_identifiers":["MONDO:0004927","DOID:9939","UMLS:C0155241","MEDDRA:10023634","MEDDRA:10060869","MEDDRA:10082947","MEDDRA:10083192","NCIT:C98968","SNOMEDCT:42758002","medgen:472901","ICD9:375.43","HP:0030752"],"information_content":100.0}
{"id":"MONDO:0004933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoplastic left heart syndrome","equivalent_identifiers":["MONDO:0004933","DOID:9955","OMIM.PS:241550","orphanet:2248","UMLS:C0152101","UMLS:C0344906","MESH:D018636","MEDDRA:10021076","NCIT:C98894","SNOMEDCT:253536001","SNOMEDCT:62067003","medgen:57746","icd11.foundation:1811800027","ICD10:Q23.4","ICD9:746.7","HP:0004383"],"information_content":90.9}
{"id":"MONDO:0004934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periostitis","equivalent_identifiers":["MONDO:0004934","DOID:9957","UMLS:C0031111","MESH:D010522","MEDDRA:10034550","MEDDRA:10034551","NCIT:C13184","SNOMEDCT:41910004","medgen:45816","icd11.foundation:505688542","HP:0040165"],"information_content":87.2}
{"id":"MONDO:0004946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoglycemia","equivalent_identifiers":["MONDO:0004946","DOID:9993","UMLS:C0020615","MESH:D007003","MEDDRA:10020993","MEDDRA:10020996","MEDDRA:10020998","MEDDRA:10021005","MEDDRA:10021007","NCIT:C3126","SNOMEDCT:237630007","SNOMEDCT:271327008","SNOMEDCT:302866003","medgen:6979","ICD10:E16.2","ICD9:251.2","HP:0001943"],"information_content":82.6}
{"id":"MONDO:0004948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B-cell chronic lymphocytic leukemia","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0004948","DOID:1040","OMIM:151400","orphanet:67038","EFO:0000095","UMLS:C0023434","UMLS:C0855095","MESH:D015451","MEDDRA:10003908","MEDDRA:10003909","MEDDRA:10003910","MEDDRA:10008956","MEDDRA:10008957","MEDDRA:10008958","MEDDRA:10008960","MEDDRA:10008976","MEDDRA:10008993","MEDDRA:10009310","MEDDRA:10024295","MEDDRA:10024340","MEDDRA:10025302","MEDDRA:10025306","MEDDRA:10041138","MEDDRA:10051812","MEDDRA:10060391","MEDDRA:10060576","MEDDRA:10068852","MEDDRA:10068919","NCIT:C3163","NCIT:C7540","SNOMEDCT:277473004","SNOMEDCT:302841002","SNOMEDCT:51092000","SNOMEDCT:64575004","SNOMEDCT:92814006","medgen:44120","ICD10:C91.10","ICD9:204.1","HP:0005550"],"information_content":72.1}
{"id":"MONDO:0004950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stomach cancer","equivalent_identifiers":["MONDO:0004950","DOID:10538","DOID:5517","EFO:0000178","UMLS:C0153420","UMLS:C0699791","MEDDRA:10007350","MEDDRA:10007474","MEDDRA:10017770","MEDDRA:10025939","MEDDRA:10042090","NCIT:C4911","SNOMEDCT:187741001","SNOMEDCT:372143007","medgen:147066","ICD10:C16.1","ICD9:151.3","HP:0012126"],"information_content":66.4}
{"id":"MONDO:0004951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HIV-1 infection","equivalent_identifiers":["MONDO:0004951","OMIM:609423","EFO:0000180","UMLS:C0276500","UMLS:C1836230","UMLS:C1836231","UMLS:C1836232","MEDDRA:10068341","NCIT:C14220","SNOMEDCT:40780007","medgen:332156"],"information_content":84.8}
{"id":"MONDO:0004958","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oral cavity squamous cell carcinoma","equivalent_identifiers":["MONDO:0004958","DOID:0050866","orphanet:502363","EFO:0000199","UMLS:C0585362","MEDDRA:10041857","NCIT:C4833","SNOMEDCT:307502000","medgen:108436"],"information_content":73.6}
{"id":"MONDO:0004960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paraproteinemia","equivalent_identifiers":["MONDO:0004960","EFO:0000203","UMLS:C0030489","UMLS:C1136085","MESH:D010265","MEDDRA:10033896","MEDDRA:10033897","MEDDRA:10060880","MEDDRA:10061333","NCIT:C27468","NCIT:C35548","SNOMEDCT:109983007","medgen:210153","HP:0031047"],"information_content":75.0}
{"id":"MONDO:0004963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pre T-ALL","equivalent_identifiers":["MONDO:0004963","DOID:5603","EFO:0000209","UMLS:C1961099","MESH:D054218","MEDDRA:10042987","MEDDRA:10054655","MEDDRA:10066105","MEDDRA:10066110","NCIT:C27261","NCIT:C3183","SNOMEDCT:128824003","SNOMEDCT:277575008","medgen:368378","HP:0006727"],"information_content":73.1}
{"id":"MONDO:0004966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastritis","equivalent_identifiers":["MONDO:0004966","DOID:4029","EFO:0000217","UMLS:C0017152","MESH:D005756","MEDDRA:10017790","MEDDRA:10017853","MEDDRA:10017869","MEDDRA:10021967","MEDDRA:10042110","MEDDRA:10078716","NCIT:C26780","SNOMEDCT:4556007","medgen:4843","icd11.foundation:1871672644","ICD10:K29.7","HP:0005263"],"information_content":78.5}
{"id":"MONDO:0004967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute lymphoblastic leukemia","equivalent_identifiers":["MONDO:0004967","DOID:9952","OMIM:613065","orphanet:513","EFO:0000220","UMLS:C0023449","UMLS:C0023453","UMLS:C1961102","UMLS:C2751594","UMLS:C2751595","UMLS:C2751596","UMLS:C2751597","UMLS:C2751598","MESH:D054198","MEDDRA:10000842","MEDDRA:10000843","MEDDRA:10000844","MEDDRA:10000845","MEDDRA:10000846","MEDDRA:10000848","MEDDRA:10000849","MEDDRA:10024290","MEDDRA:10024338","MEDDRA:10025301","MEDDRA:10025305","MEDDRA:10060390","MEDDRA:10060555","NCIT:C27281","NCIT:C3167","SNOMEDCT:128822004","SNOMEDCT:91857003","medgen:7317","ICD10:C91.00","ICD9:204.0","HP:0006721"],"information_content":64.8}
{"id":"MONDO:0004974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal gland pheochromocytoma","equivalent_identifiers":["MONDO:0004974","DOID:0050892","EFO:0000239","UMLS:C4551683","MEDDRA:10034800","MEDDRA:10034876","NCIT:C3326","SNOMEDCT:302835009","SNOMEDCT:85583005","medgen:1636437","HP:0006748"],"information_content":78.3}
{"id":"MONDO:0004975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease","equivalent_identifiers":["MONDO:0004975","DOID:10652","UMLS:C0002395","MESH:D000544","MEDDRA:10001896","MEDDRA:10012271","MEDDRA:10012292","NCIT:C2866","SNOMEDCT:142811000119104","SNOMEDCT:230267005","SNOMEDCT:26929004","medgen:1853","icd11.foundation:1611724421","ICD9:331.0","KEGG.DISEASE:05010","HP:0002511"],"information_content":72.7}
{"id":"MONDO:0004976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis","equivalent_identifiers":["MONDO:0004976","DOID:332","orphanet:803","UMLS:C0002736","MESH:D000690","MEDDRA:10002026","MEDDRA:10052889","MEDDRA:10090869","NCIT:C34373","SNOMEDCT:86044005","medgen:274","icd11.foundation:1982355687","ICD10:G12.21","ICD9:335.20","KEGG.DISEASE:05014","HP:0007354"],"information_content":74.9}
{"id":"MONDO:0004979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asthma","equivalent_identifiers":["MONDO:0004979","DOID:2841","UMLS:C0004096","UMLS:C0085129","UMLS:C0340062","UMLS:C3714497","MESH:D001249","MESH:D016535","MEDDRA:10003553","MEDDRA:10003555","MEDDRA:10003560","MEDDRA:10003561","MEDDRA:10003565","MEDDRA:10006450","MEDDRA:10037993","MEDDRA:10056285","MEDDRA:10066091","MEDDRA:10066863","MEDDRA:10082852","NCIT:C28397","SNOMEDCT:195967001","SNOMEDCT:991000119106","medgen:2109","icd11.foundation:1656445230","ICD10:J45","ICD9:493","KEGG.DISEASE:05310","HP:0002099"],"information_content":77.3}
{"id":"MONDO:0004980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atopic eczema","equivalent_identifiers":["MONDO:0004980","DOID:3310","OMIM:603165","EFO:0000274","UMLS:C0011615","UMLS:C0086196","UMLS:C1864155","UMLS:C2242769","UMLS:C4280605","MESH:C566404","MESH:D003876","MEDDRA:10001711","MEDDRA:10001712","MEDDRA:10003639","MEDDRA:10003641","MEDDRA:10012434","MEDDRA:10012438","MEDDRA:10014188","MEDDRA:10014191","MEDDRA:10014198","MEDDRA:10021747","MEDDRA:10089069","MEDDRA:10089311","NCIT:C3001","SNOMEDCT:200773006","SNOMEDCT:200775004","SNOMEDCT:24079001","SNOMEDCT:90823000","medgen:41502","icd11.foundation:215767047","ICD10:L20","HP:0001047"],"information_content":80.6}
{"id":"MONDO:0004981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation","equivalent_identifiers":["MONDO:0004981","DOID:0060224","EFO:0000275","UMLS:C0004238","MESH:D001281","MEDDRA:10001452","MEDDRA:10003658","MEDDRA:10003796","MEDDRA:10016566","NCIT:C50466","SNOMEDCT:49436004","medgen:445","icd11.foundation:171698302","ICD9:427.31","HP:0005110"],"information_content":79.6}
{"id":"MONDO:0004982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatitis","equivalent_identifiers":["MONDO:0004982","DOID:4989","EFO:0000278","UMLS:C0030305","MESH:D010195","MEDDRA:10033645","MEDDRA:10033656","MEDDRA:10076039","NCIT:C3306","SNOMEDCT:75694006","medgen:14586","ICD10:K85.9","HP:0001733"],"information_content":74.2}
{"id":"MONDO:0004985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bipolar disorder","equivalent_identifiers":["MONDO:0004985","DOID:3312","UMLS:C0005586","UMLS:C0236780","MESH:D001714","MEDDRA:10004908","MEDDRA:10004935","MEDDRA:10004938","MEDDRA:10026754","MEDDRA:10026755","MEDDRA:10026756","MEDDRA:10026757","MEDDRA:10026758","MEDDRA:10037240","MEDDRA:10037954","MEDDRA:10057667","NCIT:C34423","SNOMEDCT:13746004","SNOMEDCT:16506000","medgen:2649","ICD10:F31","ICD9:296.40","ICD9:296.60","ICD9:296.80","HP:0007302"],"information_content":82.1}
{"id":"MONDO:0004986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary bladder carcinoma","equivalent_identifiers":["MONDO:0004986","DOID:4007","UMLS:C0699885","MEDDRA:10005014","MEDDRA:10005015","MEDDRA:10007293","MEDDRA:10007478","MEDDRA:10046518","NCIT:C4912","SNOMEDCT:255108000","medgen:147071","HP:0002862"],"information_content":66.2}
{"id":"MONDO:0004987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bladder tumor","equivalent_identifiers":["MONDO:0004987","EFO:0000294","UMLS:C0005695","MESH:D001749","MEDDRA:10005056","MEDDRA:10005057","MEDDRA:10005058","MEDDRA:10028983","MEDDRA:10029100","NCIT:C2901","SNOMEDCT:126885006","medgen:594","HP:0009725"],"information_content":64.4}
{"id":"MONDO:0004989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast carcinoma","equivalent_identifiers":["MONDO:0004989","DOID:3459","EFO:0000305","UMLS:C0678222","MEDDRA:10006204","MEDDRA:10006206","MEDDRA:10007305","NCIT:C4872","SNOMEDCT:254838004","medgen:146260","HP:0003002"],"information_content":58.2}
{"id":"MONDO:0004991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"minimally invasive lung adenocarcinoma","equivalent_identifiers":["MONDO:0004991","DOID:4926","EFO:0000308","EFO:1001941","UMLS:C0007120","MESH:D002282","MEDDRA:10006447","MEDDRA:10049876","MEDDRA:10058354","NCIT:C2923","SNOMEDCT:112677002","SNOMEDCT:36310008","SNOMEDCT:373627005","medgen:2871","HP:0006519"],"information_content":90.9}
{"id":"MONDO:0004992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cancer","equivalent_identifiers":["MONDO:0004992","DOID:0050686","DOID:0050687","DOID:162","UMLS:C0006826","UMLS:C0027653","UMLS:C4023185","MESH:D009371","MEDDRA:10007050","MEDDRA:10007051","MEDDRA:10025691","MEDDRA:10026655","MEDDRA:10028997","MEDDRA:10049516","MEDDRA:10073835","NCIT:C3263","NCIT:C9305","SNOMEDCT:1240414004","SNOMEDCT:363346000","medgen:14297","ICD10:C80.1","ICD9:199","HP:0011793"],"information_content":36.3}
{"id":"MONDO:0004993","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carcinoma","equivalent_identifiers":["MONDO:0004993","DOID:305","EFO:0000313","UMLS:C0007097","UMLS:C0553707","MESH:D002277","MEDDRA:10007284","MEDDRA:10007423","NCIT:C2916","SNOMEDCT:1187225007","SNOMEDCT:1187425009","SNOMEDCT:68453008","SNOMEDCT:71298006","SNOMEDCT:722688002","medgen:2867","HP:0030731"],"information_content":42.8}
{"id":"MONDO:0004994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy","equivalent_identifiers":["MONDO:0004994","DOID:0050700","orphanet:167848","EFO:0000318","UMLS:C0036529","UMLS:C0878544","MESH:D009202","MEDDRA:10007635","MEDDRA:10007636","MEDDRA:10007640","MEDDRA:10007642","MEDDRA:10039826","MEDDRA:10061033","MEDDRA:10072122","NCIT:C34830","SNOMEDCT:85898001","medgen:209232","icd11.foundation:282225286","ICD10:I42","ICD9:425","ICD9:425.9","HP:0001638"],"information_content":62.5}
{"id":"MONDO:0004995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiovascular disorder","equivalent_identifiers":["MONDO:0004995","DOID:1287","EFO:0000319","UMLS:C0007222","UMLS:C0243050","UMLS:C0728936","MESH:D002318","MESH:D018376","MEDDRA:10007648","MEDDRA:10007649","MEDDRA:10007650","MEDDRA:10013205","MEDDRA:10045663","NCIT:C2931","SNOMEDCT:49601007","medgen:2848","ICD9:429.2","HP:0001626"],"information_content":46.3}
{"id":"MONDO:0005001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic gastritis","equivalent_identifiers":["MONDO:0005001","EFO:0000337","UMLS:C0085695","MEDDRA:10008882","MEDDRA:10017864","NCIT:C26929","SNOMEDCT:8493009","medgen:39089","HP:0005231"],"information_content":92.8}
{"id":"MONDO:0005002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic obstructive pulmonary disease","equivalent_identifiers":["MONDO:0005002","DOID:3083","OMIM:606963","EFO:0000341","UMLS:C0024117","UMLS:C1527303","UMLS:C2751329","MESH:D029424","MEDDRA:10008828","MEDDRA:10009025","MEDDRA:10009026","MEDDRA:10009032","MEDDRA:10009033","MEDDRA:10010952","MEDDRA:10029972","MEDDRA:10064611","MEDDRA:10070975","NCIT:C3199","SNOMEDCT:13645005","medgen:9818","icd11.foundation:133207228","ICD10:J44.9","HP:0006510"],"information_content":81.7}
{"id":"MONDO:0005003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic pancreatitis","equivalent_identifiers":["MONDO:0005003","EFO:0000342","UMLS:C0149521","MESH:D050500","MEDDRA:10009093","MEDDRA:10033649","MEDDRA:10087944","NCIT:C84637","SNOMEDCT:235494005","medgen:101753","icd11.foundation:1758007371","HP:0006280"],"information_content":90.9}
{"id":"MONDO:0005005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"clear cell renal carcinoma","equivalent_identifiers":["MONDO:0005005","DOID:4467","orphanet:319276","EFO:0000349","UMLS:C0279702","MEDDRA:10009251","MEDDRA:10020681","MEDDRA:10038416","MEDDRA:10073251","NCIT:C4033","SNOMEDCT:1187306007","SNOMEDCT:188251003","SNOMEDCT:254915003","medgen:76018","HP:0006770"],"information_content":78.3}
{"id":"MONDO:0005006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"clear cell sarcoma of kidney","equivalent_identifiers":["MONDO:0005006","DOID:4880","orphanet:457246","EFO:0000350","UMLS:C0334488","UMLS:CN242113","MEDDRA:10009253","NCIT:C4264","SNOMEDCT:1187464007","SNOMEDCT:24007003","medgen:90791"],"information_content":88.2}
{"id":"MONDO:0005008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colorectal adenocarcinoma","equivalent_identifiers":["MONDO:0005008","DOID:0050861","DOID:0050913","EFO:0000365","UMLS:C1319315","MEDDRA:10052360","NCIT:C5105","SNOMEDCT:408645001","medgen:230816","HP:0040275"],"information_content":70.8}
{"id":"MONDO:0005010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary artery disorder","equivalent_identifiers":["MONDO:0005010","DOID:3393","EFO:0001645","UMLS:C0010068","UMLS:C0264694","UMLS:C1533195","UMLS:C1956346","MESH:D003324","MESH:D003327","MEDDRA:10008936","MEDDRA:10008937","MEDDRA:10011078","MEDDRA:10011079","MEDDRA:10011080","MEDDRA:10011081","MEDDRA:10011082","MEDDRA:10011099","MEDDRA:10013098","MEDDRA:10013210","MEDDRA:10068617","NCIT:C26732","SNOMEDCT:413838009","SNOMEDCT:413844008","SNOMEDCT:414024009","SNOMEDCT:53741008","medgen:365486","ICD10:I20-I25","ICD10:I25","ICD10:I25.10","ICD9:410-414.99","ICD9:414.0","ICD9:414.9","HP:0001677"],"information_content":77.6}
{"id":"MONDO:0005011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crohn disease","equivalent_identifiers":["MONDO:0005011","DOID:8778","EFO:0000384","UMLS:C0010346","MESH:D003424","MEDDRA:10011398","MEDDRA:10011401","MEDDRA:10011405","MEDDRA:10013099","NCIT:C2965","SNOMEDCT:34000006","SNOMEDCT:7620006","medgen:3664","icd11.foundation:1267652425","HP:0100280"],"information_content":71.8}
{"id":"MONDO:0005012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin melanoma","equivalent_identifiers":["MONDO:0005012","DOID:10041","DOID:8923","OMIM:155600","EFO:0000389","EFO:0004199","UMLS:C0013403","UMLS:C0151779","UMLS:C0153535","UMLS:C0153536","UMLS:C0205747","UMLS:C1835047","UMLS:C2314896","MESH:D000096142","MESH:D004416","MEDDRA:10003931","MEDDRA:10013960","MEDDRA:10013962","MEDDRA:10025655","MEDDRA:10025665","MEDDRA:10027152","MEDDRA:10027155","MEDDRA:10040891","MEDDRA:10069425","MEDDRA:10069426","MEDDRA:10088049","NCIT:C27264","NCIT:C3510","NCIT:C7584","SNOMEDCT:254819008","SNOMEDCT:93641007","SNOMEDCT:93653006","SNOMEDCT:93655004","medgen:57486","ICD10:C43.9","ICD9:172.9","HP:0012056"],"information_content":68.1}
{"id":"MONDO:0005015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus","equivalent_identifiers":["MONDO:0005015","DOID:9351","EFO:0000400","UMLS:C0011849","MESH:D003920","MEDDRA:10012594","MEDDRA:10012601","MEDDRA:10012614","NCIT:C2985","SNOMEDCT:73211009","medgen:8350","icd11.foundation:465177735","ICD10:E08-E13","ICD9:250","HP:0000819"],"information_content":66.6}
{"id":"MONDO:0005020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal disorder","equivalent_identifiers":["MONDO:0005020","DOID:5295","EFO:0009431","UMLS:C0021831","UMLS:C4316788","MESH:D007410","MEDDRA:10045793","NCIT:C26801","SNOMEDCT:85919009","medgen:7130","ICD10:K63.9","ICD9:569.9","HP:0002242"],"information_content":54.7}
{"id":"MONDO:0005021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy","equivalent_identifiers":["MONDO:0005021","DOID:12930","orphanet:217604","EFO:0000407","UMLS:C0007193","MESH:D002311","MEDDRA:10010681","MEDDRA:10056370","MEDDRA:10056419","NCIT:C84673","SNOMEDCT:195021004","SNOMEDCT:399020009","medgen:2880","icd11.foundation:1916294688","KEGG.DISEASE:05414","HP:0001644"],"information_content":70.1}
{"id":"MONDO:0005023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ductal breast carcinoma in situ","equivalent_identifiers":["MONDO:0005023","DOID:0060074","EFO:0000432","UMLS:C0007124","MESH:D002285","MEDDRA:10007360","MEDDRA:10013806","NCIT:C2924","SNOMEDCT:109889007","SNOMEDCT:1162814007","SNOMEDCT:278053004","SNOMEDCT:373176000","SNOMEDCT:86616005","medgen:765","HP:0030075"],"information_content":81.3}
{"id":"MONDO:0005025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endocarditis","equivalent_identifiers":["MONDO:0005025","DOID:10314","EFO:0000465","UMLS:C0014118","UMLS:C0375268","MESH:D004696","MEDDRA:10000729","MEDDRA:10014665","MEDDRA:10014681","MEDDRA:10049001","NCIT:C34582","NCIT:C35432","SNOMEDCT:56819008","SNOMEDCT:91357005","medgen:4940","ICD10:I33.9","ICD9:421.9","HP:0100584"],"information_content":82.1}
{"id":"MONDO:0005027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy","equivalent_identifiers":["MONDO:0005027","DOID:1826","EFO:0000474","EFO:0009853","UMLS:C0014544","UMLS:C0036572","UMLS:C4317109","MESH:D004827","MEDDRA:10010904","MEDDRA:10010914","MEDDRA:10010922","MEDDRA:10015037","MEDDRA:10015042","MEDDRA:10015046","MEDDRA:10015051","MEDDRA:10015052","MEDDRA:10039906","MEDDRA:10039910","NCIT:C2962","NCIT:C3020","SNOMEDCT:128613002","SNOMEDCT:313307000","SNOMEDCT:84757009","SNOMEDCT:91175000","medgen:4506","ICD10:G40","ICD9:345.9","HP:0001250"],"information_content":56.5}
{"id":"MONDO:0005028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal adenocarcinoma","equivalent_identifiers":["MONDO:0005028","DOID:4914","orphanet:99976","EFO:0000478","UMLS:C0279628","MESH:C562730","MEDDRA:10001173","MEDDRA:10030137","MEDDRA:10030139","MEDDRA:10055458","MEDDRA:10056092","NCIT:C4025","SNOMEDCT:276803003","medgen:124636","icd11.foundation:829915640"],"information_content":71.9}
{"id":"MONDO:0005029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"essential thrombocythemia","equivalent_identifiers":["MONDO:0005029","DOID:2224","orphanet:3318","EFO:0000479","UMLS:C0040028","MESH:D013920","MEDDRA:10015493","MEDDRA:10015494","MEDDRA:10015495","MEDDRA:10053263","MEDDRA:10086933","MEDDRA:10086934","NCIT:C3407","SNOMEDCT:109994006","SNOMEDCT:128844009","medgen:11797","ICD10:D47.3","ICD9:238.71"],"information_content":92.8}
{"id":"MONDO:0005030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal growth restriction","equivalent_identifiers":["MONDO:0005030","EFO:0000495","UMLS:C0015934","UMLS:C0021296","UMLS:C1386048","UMLS:C1855652","MESH:D005317","MESH:D007236","MEDDRA:10016497","MEDDRA:10016498","MEDDRA:10016857","MEDDRA:10022819","MEDDRA:10041092","MEDDRA:10041196","MEDDRA:10048488","MEDDRA:10048489","MEDDRA:10054746","MEDDRA:10055695","MEDDRA:10055696","MEDDRA:10070531","MEDDRA:10070532","MEDDRA:10071034","NCIT:C114875","SNOMEDCT:199612005","SNOMEDCT:22033007","medgen:4693","HP:0001511"],"information_content":89.4}
{"id":"MONDO:0005031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibromatosis","equivalent_identifiers":["MONDO:0005031","EFO:0000497","UMLS:C0016048","UMLS:C0079218","UMLS:C5970494","MEDDRA:10049444","MEDDRA:10059352","MEDDRA:10059353","NCIT:C3042","SNOMEDCT:19928005","SNOMEDCT:399994005","SNOMEDCT:400055004","SNOMEDCT:47284001","SNOMEDCT:723976005","SNOMEDCT:725049005","medgen:8836","HP:0100245"],"information_content":79.0}
{"id":"MONDO:0005033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ganglioneuroma","equivalent_identifiers":["MONDO:0005033","DOID:4817","orphanet:251992","EFO:0000500","UMLS:C0017075","UMLS:C1513025","MEDDRA:10017709","NCIT:C3049","NCIT:C42065","SNOMEDCT:116371000119107","SNOMEDCT:128919000","SNOMEDCT:53801007","medgen:6545","HP:0003005"],"information_content":83.1}
{"id":"MONDO:0005034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid gland follicular carcinoma","equivalent_identifiers":["MONDO:0005034","DOID:3962","EFO:0000501","UMLS:C0206682","MESH:D018263","MEDDRA:10089699","NCIT:C8054","SNOMEDCT:255028004","SNOMEDCT:28173006","SNOMEDCT:5257006","medgen:64630","icd11:2D10.0","HP:0006731"],"information_content":75.3}
{"id":"MONDO:0005035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ganglioneuroblastoma","equivalent_identifiers":["MONDO:0005035","DOID:4163","orphanet:251877","EFO:0000502","UMLS:C0206718","MESH:D018305","MEDDRA:10017708","NCIT:C3790","SNOMEDCT:116381000119105","SNOMEDCT:69515008","medgen:60218","HP:0006747"],"information_content":80.9}
{"id":"MONDO:0005036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric adenocarcinoma","equivalent_identifiers":["MONDO:0005036","DOID:3717","EFO:0000503","UMLS:C0278701","MEDDRA:10001150","NCIT:C4004","SNOMEDCT:408647009","medgen:82961","HP:0033770"],"information_content":75.8}
{"id":"MONDO:0005041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma","equivalent_identifiers":["MONDO:0005041","DOID:1686","UMLS:C0017601","MESH:D005901","MEDDRA:10018304","MEDDRA:10018326","MEDDRA:10018332","MEDDRA:10045894","NCIT:C26782","SNOMEDCT:23986001","medgen:42224","icd11.foundation:499924848","ICD10:H40","ICD9:365","HP:0000501"],"information_content":73.1}
{"id":"MONDO:0005044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertension","equivalent_identifiers":["MONDO:0005044","DOID:10763","EFO:0000537","UMLS:C0020538","UMLS:C0497247","MESH:D006973","MEDDRA:10003168","MEDDRA:10003170","MEDDRA:10005747","MEDDRA:10005750","MEDDRA:10005755","MEDDRA:10006067","MEDDRA:10014475","MEDDRA:10020772","MEDDRA:10020775","MEDDRA:10020782","MEDDRA:10021655","MEDDRA:10036639","MEDDRA:10036640","MEDDRA:10037806","MEDDRA:10037808","MEDDRA:10039196","MEDDRA:10039197","MEDDRA:10057166","MEDDRA:10081425","MEDDRA:10088636","NCIT:C3117","SNOMEDCT:24184005","SNOMEDCT:38341003","medgen:6969","ICD10:I10","ICD9:401-405.99","HP:0000822"],"information_content":68.7}
{"id":"MONDO:0005045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy","equivalent_identifiers":["MONDO:0005045","DOID:11984","orphanet:217569","EFO:0000538","UMLS:C0007194","UMLS:C4551472","MESH:D002312","MEDDRA:10020204","MEDDRA:10020871","MEDDRA:10020876","MEDDRA:10065229","MEDDRA:10083664","NCIT:C34449","SNOMEDCT:233873004","SNOMEDCT:45227007","medgen:2881","icd11.foundation:1830681485","ICD9:425.1","KEGG.DISEASE:05410","HP:0001639"],"information_content":69.3}
{"id":"MONDO:0005047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infertility","equivalent_identifiers":["MONDO:0005047","DOID:5223","EFO:0000545","UMLS:C0021359","UMLS:C1533568","UMLS:C4074771","MESH:D007246","MEDDRA:10021926","MEDDRA:10021930","MEDDRA:10042012","NCIT:C3836","SNOMEDCT:15296000","SNOMEDCT:8619003","medgen:43876","HP:0000789"],"information_content":63.5}
{"id":"MONDO:0005048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"insulinoma","equivalent_identifiers":["MONDO:0005048","orphanet:97279","EFO:0000549","UMLS:C5848150","NCIT:C3140","medgen:1844884"],"information_content":90.9}
{"id":"MONDO:0005055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kaposi Sarcoma","equivalent_identifiers":["MONDO:0005055","DOID:8632","orphanet:33276","EFO:0000558","UMLS:C0036220","UMLS:C0153560","UMLS:C0153561","UMLS:C0153562","UMLS:C0153563","UMLS:C0153564","UMLS:C0153565","UMLS:C0276535","UMLS:C0346935","UMLS:C0346936","UMLS:C1332265","UMLS:C1332847","UMLS:C1333453","UMLS:C1333744","UMLS:C1333776","UMLS:C1334318","UMLS:C1334457","UMLS:C1335372","UMLS:C1335509","MESH:C554498","MESH:D012514","MEDDRA:10023284","MEDDRA:10023285","MEDDRA:10023286","MEDDRA:10023289","MEDDRA:10023290","MEDDRA:10023291","MEDDRA:10023292","MEDDRA:10023293","MEDDRA:10023295","MEDDRA:10023296","MEDDRA:10023297","MEDDRA:10023298","MEDDRA:10028220","MEDDRA:10028221","MEDDRA:10028222","MEDDRA:10055863","NCIT:C194225","NCIT:C27500","NCIT:C3550","NCIT:C3551","NCIT:C3992","NCIT:C4578","NCIT:C4579","NCIT:C5363","NCIT:C5523","NCIT:C5529","NCIT:C5602","NCIT:C5706","NCIT:C5842","NCIT:C6377","NCIT:C6749","NCIT:C7006","NCIT:C9087","SNOMEDCT:109385007","SNOMEDCT:109386008","SNOMEDCT:109388009","SNOMEDCT:109390005","SNOMEDCT:109391009","SNOMEDCT:1179374007","SNOMEDCT:188029000","SNOMEDCT:255114007","SNOMEDCT:255115008","SNOMEDCT:420524008","SNOMEDCT:49937004","medgen:11321","ICD10:C46","ICD10:C46.0","ICD10:C46.1","ICD10:C46.2","ICD10:C46.3","ICD10:C46.4","ICD10:C46.5","ICD9:176","ICD9:176.0","ICD9:176.1","ICD9:176.2","ICD9:176.3","ICD9:176.4","ICD9:176.5","HP:0100726"],"information_content":73.8}
{"id":"MONDO:0005058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leiomyosarcoma","equivalent_identifiers":["MONDO:0005058","DOID:1967","orphanet:64720","EFO:0000564","UMLS:C0023269","MESH:D007890","MEDDRA:10024189","MEDDRA:10024190","MEDDRA:10024193","NCIT:C3158","SNOMEDCT:1163022006","SNOMEDCT:443719001","SNOMEDCT:51549004","medgen:9711","HP:0100243"],"information_content":69.5}
{"id":"MONDO:0005059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukemia","equivalent_identifiers":["MONDO:0005059","DOID:1240","EFO:0000565","UMLS:C0023418","MESH:D007938","MEDDRA:10024288","MEDDRA:10024312","MEDDRA:10024314","MEDDRA:10024323","MEDDRA:10024324","MEDDRA:10024329","MEDDRA:10024351","MEDDRA:10024352","MEDDRA:10045991","MEDDRA:10045992","MEDDRA:10045994","MEDDRA:10060430","MEDDRA:10060500","NCIT:C3161","SNOMEDCT:1162768007","SNOMEDCT:87163000","SNOMEDCT:93143009","medgen:9725","ICD10:C95.90","ICD9:208","HP:0001909"],"information_content":55.7}
{"id":"MONDO:0005060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liposarcoma","equivalent_identifiers":["MONDO:0005060","DOID:3382","orphanet:69078","EFO:0000569","UMLS:C0023827","MESH:D008080","MEDDRA:10024627","MEDDRA:10024628","MEDDRA:10024631","NCIT:C3194","SNOMEDCT:1162815008","SNOMEDCT:254829001","SNOMEDCT:49430005","medgen:44177","HP:0012034"],"information_content":73.0}
{"id":"MONDO:0005061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung adenocarcinoma","equivalent_identifiers":["MONDO:0005061","DOID:3910","EFO:0000571","UMLS:C0152013","UMLS:C1335060","MESH:C538231","MESH:D000077192","MEDDRA:10001160","MEDDRA:10001175","MEDDRA:10025031","MEDDRA:10025032","NCIT:C27745","NCIT:C3512","SNOMEDCT:254626006","medgen:57744","HP:0030078"],"information_content":72.5}
{"id":"MONDO:0005062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphoma","equivalent_identifiers":["MONDO:0005062","DOID:0060058","orphanet:223735","EFO:0000574","UMLS:C0024299","UMLS:C0334621","UMLS:C1536843","MESH:D008223","MEDDRA:10025310","MEDDRA:10025315","MEDDRA:10025316","MEDDRA:10025632","MEDDRA:10025633","NCIT:C3208","NCIT:C7065","SNOMEDCT:115244002","SNOMEDCT:1163043007","SNOMEDCT:118600007","SNOMEDCT:188676008","medgen:44223","ICD10:C85.9","HP:0002665"],"information_content":49.7}
{"id":"MONDO:0005068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myocardial infarction","equivalent_identifiers":["MONDO:0005068","DOID:5844","EFO:0000612","UMLS:C0027051","MESH:D009203","MEDDRA:10003723","MEDDRA:10003724","MEDDRA:10019250","MEDDRA:10021758","MEDDRA:10028595","MEDDRA:10028596","MEDDRA:10087618","NCIT:C27996","SNOMEDCT:22298006","medgen:10150","ICD10:I21","HP:0001658"],"information_content":79.3}
{"id":"MONDO:0005070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neoplasm","equivalent_identifiers":["MONDO:0005070","DOID:14566","EFO:0000616","UMLS:C0027651","UMLS:C4732738","UMLS:CN236628","MESH:D009369","MEDDRA:10028980","MEDDRA:10029000","MEDDRA:10029104","MEDDRA:10084712","MEDDRA:10084713","NCIT:C3262","SNOMEDCT:108369006","SNOMEDCT:55342001","medgen:10294","HP:0002664"],"information_content":35.8}
{"id":"MONDO:0005072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroblastoma","equivalent_identifiers":["MONDO:0005072","DOID:769","orphanet:635","EFO:0000621","UMLS:C0027819","UMLS:C0700095","MESH:D009447","MEDDRA:10029260","MEDDRA:10029261","NCIT:C3270","SNOMEDCT:432328008","SNOMEDCT:87364003","medgen:18012","HP:0003006"],"information_content":70.2}
{"id":"MONDO:0005073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nevus","equivalent_identifiers":["MONDO:0005073","EFO:0009675","UMLS:C0027960","UMLS:C0027962","MESH:D009506","MESH:D009508","MEDDRA:10027145","MEDDRA:10027806","MEDDRA:10028677","MEDDRA:10028678","MEDDRA:10028679","MEDDRA:10029384","MEDDRA:10029385","MEDDRA:10035031","MEDDRA:10062797","MEDDRA:10062799","MEDDRA:10073897","NCIT:C7570","SNOMEDCT:400096001","SNOMEDCT:51697005","medgen:14364","HP:0003764"],"information_content":70.9}
{"id":"MONDO:0005075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid gland papillary carcinoma","equivalent_identifiers":["MONDO:0005075","DOID:3969","EFO:0000641","UMLS:C0238463","MESH:D000077273","MEDDRA:10007461","MEDDRA:10033701","MEDDRA:10043758","NCIT:C4035","SNOMEDCT:1336196002","SNOMEDCT:255029007","medgen:66773","icd11:2D10.1","HP:0002895"],"information_content":72.2}
{"id":"MONDO:0005076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periodontitis","equivalent_identifiers":["MONDO:0005076","DOID:824","DOID:9893","EFO:0000649","UMLS:C0031099","UMLS:C0600298","MESH:D010518","MEDDRA:10034539","MEDDRA:10034540","NCIT:C34918","SNOMEDCT:41565005","medgen:45815","ICD10:K05.3","ICD10:K05.4","ICD9:523.5","HP:0000704"],"information_content":83.1}
{"id":"MONDO:0005080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"portal hypertension","equivalent_identifiers":["MONDO:0005080","DOID:10762","EFO:0000666","UMLS:C0020541","MESH:D006975","MEDDRA:10020786","MEDDRA:10036200","MEDDRA:10036201","NCIT:C3119","SNOMEDCT:34742003","medgen:9375","icd11.foundation:1506184775","ICD10:K76.6","ICD9:572.3","HP:0001409"],"information_content":89.4}
{"id":"MONDO:0005081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preeclampsia","equivalent_identifiers":["MONDO:0005081","DOID:10591","OMIM.PS:189800","orphanet:275555","EFO:0000668","UMLS:C0032914","MESH:D011225","MEDDRA:10036485","MEDDRA:10036492","MEDDRA:10036493","MEDDRA:10074050","MEDDRA:10089264","NCIT:C85021","SNOMEDCT:398254007","medgen:18608","ICD10:O14","HP:0100602"],"information_content":85.5}
{"id":"MONDO:0005083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis","equivalent_identifiers":["MONDO:0005083","DOID:8893","OMIM.PS:177900","EFO:0000676","UMLS:C0033860","UMLS:C0262985","MESH:D011565","MEDDRA:10037153","MEDDRA:10058675","NCIT:C27724","NCIT:C3346","SNOMEDCT:238564003","SNOMEDCT:52230004","SNOMEDCT:9014002","medgen:10997","icd11.foundation:63698555","ICD10:L40","HP:0003765"],"information_content":78.5}
{"id":"MONDO:0005085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pterygium","equivalent_identifiers":["MONDO:0005085","DOID:0002116","EFO:0000678","UMLS:C0033999","MESH:D011625","NCIT:C133744","SNOMEDCT:77489003","medgen:46202","icd11.foundation:1207385905","HP:0001059"],"information_content":87.2}
{"id":"MONDO:0005086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal cell carcinoma","equivalent_identifiers":["MONDO:0005086","DOID:4450","orphanet:217071","EFO:0000681","UMLS:C0007134","MESH:D002292","MEDDRA:10001174","MEDDRA:10038401","MEDDRA:10038407","MEDDRA:10038409","MEDDRA:10038415","MEDDRA:10067946","MEDDRA:10072444","MEDDRA:10072445","SNOMEDCT:41607009","SNOMEDCT:702391001","medgen:766","HP:0005584"],"information_content":76.2}
{"id":"MONDO:0005089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sarcoma","equivalent_identifiers":["MONDO:0005089","DOID:1115","EFO:0000691","UMLS:C0153519","UMLS:C1261473","MESH:D012509","MEDDRA:10039491","MEDDRA:10039494","NCIT:C9118","SNOMEDCT:1187396000","SNOMEDCT:424413001","medgen:224714","ICD10:C49","ICD9:171.9","HP:0100242"],"information_content":53.1}
{"id":"MONDO:0005090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia","equivalent_identifiers":["MONDO:0005090","DOID:5419","OMIM:181500","UMLS:C0036341","UMLS:C4538533","MESH:D012559","MEDDRA:10012297","MEDDRA:10039626","MEDDRA:10039632","MEDDRA:10046150","MEDDRA:10046156","NCIT:C3362","SNOMEDCT:191526005","SNOMEDCT:58214004","medgen:48574","icd11.foundation:1683919430","ICD10:F20","ICD9:295","HP:0100753"],"information_content":76.2}
{"id":"MONDO:0005091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe acute respiratory syndrome","equivalent_identifiers":["MONDO:0005091","DOID:2945","orphanet:140896","EFO:0000694","UMLS:C1175175","MESH:D045169","MEDDRA:10061982","MEDDRA:10061986","MEDDRA:10084784","NCIT:C85064","SNOMEDCT:398447004","medgen:262817","icd11.foundation:652944603","ICD10:J12.81","ICD9:079.82"],"information_content":100.0}
{"id":"MONDO:0005093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin disorder","equivalent_identifiers":["MONDO:0005093","DOID:37","EFO:0000701","UMLS:C0029574","UMLS:C0037268","UMLS:C0037274","UMLS:C5848159","MESH:D012868","MESH:D012871","MEDDRA:10040831","MEDDRA:10040833","MEDDRA:10040888","MEDDRA:10048768","MEDDRA:10067769","MEDDRA:10087776","NCIT:C27554","NCIT:C3371","NCIT:C97174","SNOMEDCT:199879009","SNOMEDCT:95320005","medgen:20777","ICD9:702","HP:0000951"],"information_content":49.8}
{"id":"MONDO:0005096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"squamous cell carcinoma","equivalent_identifiers":["MONDO:0005096","DOID:1749","EFO:0000707","UMLS:C0007137","UMLS:C0751688","MESH:D002294","MEDDRA:10007349","MEDDRA:10007473","MEDDRA:10014987","MEDDRA:10041823","MEDDRA:10087462","NCIT:C2929","SNOMEDCT:1162767002","SNOMEDCT:1255006006","SNOMEDCT:28899001","SNOMEDCT:402815007","medgen:2874","HP:0002860"],"information_content":57.1}
{"id":"MONDO:0005098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stroke disorder","equivalent_identifiers":["MONDO:0005098","EFO:0000712","UMLS:C0038454","MESH:D020521","MEDDRA:10000374","MEDDRA:10003004","MEDDRA:10008190","MEDDRA:10008191","MEDDRA:10011693","MEDDRA:10042244","MEDDRA:10090922","NCIT:C3390","SNOMEDCT:230690007","medgen:52522","HP:0001297"],"information_content":82.6}
{"id":"MONDO:0005099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subarachnoid hemorrhage","equivalent_identifiers":["MONDO:0005099","EFO:0000713","UMLS:C0038525","MESH:D013345","MEDDRA:10019587","MEDDRA:10042316","MEDDRA:10042318","MEDDRA:10042320","MEDDRA:10055845","MEDDRA:10071890","NCIT:C50757","SNOMEDCT:21454007","medgen:11625","HP:0002138"],"information_content":95.4}
{"id":"MONDO:0005100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic sclerosis","equivalent_identifiers":["MONDO:0005100","DOID:418","orphanet:90291","EFO:0000717","UMLS:C0036421","UMLS:C0700318","MESH:D012595","MEDDRA:10036814","MEDDRA:10042953","MEDDRA:10078638","NCIT:C197525","NCIT:C72070","SNOMEDCT:89155008","medgen:19897","icd11.foundation:1084365812","ICD10:M34.0","ICD9:710.1"],"information_content":86.3}
{"id":"MONDO:0005101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulcerative colitis","equivalent_identifiers":["MONDO:0005101","DOID:8577","EFO:0000729","UMLS:C0009324","UMLS:C0375359","MESH:D003093","MEDDRA:10009900","MEDDRA:10021238","MEDDRA:10024123","MEDDRA:10036785","MEDDRA:10045365","MEDDRA:10045366","NCIT:C2952","SNOMEDCT:441971007","SNOMEDCT:64766004","medgen:3532","icd11.foundation:784669405","ICD10:K51","ICD9:556","ICD9:556.5","HP:0100279"],"information_content":89.4}
{"id":"MONDO:0005103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"well-differentiated liposarcoma","equivalent_identifiers":["MONDO:0005103","orphanet:99971","EFO:0000736","UMLS:C1370889","NCIT:C4250","SNOMEDCT:1290827008","SNOMEDCT:28655007","medgen:237164"],"information_content":90.9}
{"id":"MONDO:0005105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melanoma","equivalent_identifiers":["MONDO:0005105","DOID:1909","EFO:0000756","UMLS:C0025202","UMLS:CN971653","MESH:D008545","MEDDRA:10025650","MEDDRA:10027150","MEDDRA:10053571","NCIT:C3224","SNOMEDCT:1162635006","SNOMEDCT:372244006","medgen:9944","KEGG.DISEASE:05218","HP:0002861"],"information_content":61.5}
{"id":"MONDO:0005106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoma","equivalent_identifiers":["MONDO:0005106","DOID:3315","EFO:0000759","UMLS:C0023798","MESH:D008067","MEDDRA:10024612","MEDDRA:10024615","MEDDRA:10024623","NCIT:C3192","SNOMEDCT:134328007","SNOMEDCT:93163002","medgen:44173","icd11.foundation:1090000716","ICD10:D17","ICD10:D17.9","ICD9:214","HP:0012032"],"information_content":70.6}
{"id":"MONDO:0005116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Whipple disease","equivalent_identifiers":["MONDO:0005116","DOID:8476","orphanet:3452","EFO:0000775","UMLS:C0023788","MESH:D008061","MEDDRA:10047931","MEDDRA:10047933","NCIT:C85228","SNOMEDCT:41545003","medgen:7347","icd11.foundation:1131038233","ICD10:K90.81","ICD9:040.2"],"information_content":100.0}
{"id":"MONDO:0005124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leprosy","equivalent_identifiers":["MONDO:0005124","DOID:1024","orphanet:548","EFO:0001054","UMLS:C0023343","MESH:D007918","MEDDRA:10019138","MEDDRA:10024229","MEDDRA:10024230","MEDDRA:10024231","MEDDRA:10024232","MEDDRA:10028451","NCIT:C84824","SNOMEDCT:81004002","medgen:6049","icd11.foundation:149072669","ICD10:A30","ICD9:030"],"information_content":83.6}
{"id":"MONDO:0005129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract","equivalent_identifiers":["MONDO:0005129","DOID:83","OMIM.PS:116200","UMLS:C0029531","UMLS:C0086543","UMLS:C1510497","MESH:D002386","MEDDRA:10007739","MEDDRA:10007757","MEDDRA:10007768","MEDDRA:10007771","MEDDRA:10024208","MEDDRA:10024214","MEDDRA:10024215","MEDDRA:10030347","MEDDRA:10045649","NCIT:C26713","SNOMEDCT:128306009","SNOMEDCT:193570009","SNOMEDCT:247053007","medgen:39462","icd11.foundation:109841337","ICD10:H26","ICD9:366.8","HP:0000518"],"information_content":70.5}
{"id":"MONDO:0005130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"celiac disease","equivalent_identifiers":["MONDO:0005130","DOID:10608","OMIM.PS:212750","EFO:0001060","UMLS:C0007570","MESH:D002446","MEDDRA:10007864","MEDDRA:10007865","MEDDRA:10009839","MEDDRA:10018458","MEDDRA:10018461","MEDDRA:10029525","MEDDRA:10058248","NCIT:C26714","SNOMEDCT:396331005","medgen:3291","ICD10:K90.0","ICD9:579.0","HP:0002608"],"information_content":80.6}
{"id":"MONDO:0005133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometriosis","equivalent_identifiers":["MONDO:0005133","DOID:289","EFO:0001065","UMLS:C0014175","MESH:D004715","MEDDRA:10014778","MEDDRA:10014789","MEDDRA:10087669","NCIT:C3014","SNOMEDCT:129103003","SNOMEDCT:396224008","medgen:8620","icd11.foundation:1838213761","ICD10:N80","ICD9:617","HP:0030127"],"information_content":78.5}
{"id":"MONDO:0005136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malaria","equivalent_identifiers":["MONDO:0005136","DOID:12365","orphanet:673","EFO:0001068","UMLS:C0024530","MESH:D008288","MEDDRA:10025487","MEDDRA:10025489","MEDDRA:10025497","MEDDRA:10035499","MEDDRA:10054147","MEDDRA:10067345","NCIT:C34797","SNOMEDCT:105649009","SNOMEDCT:248437004","SNOMEDCT:61462000","medgen:7443","icd11.foundation:1439886552","ICD10:B54","ICD9:084"],"information_content":84.8}
{"id":"MONDO:0005137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malnutrition","equivalent_identifiers":["MONDO:0005137","DOID:374","EFO:0001069","EFO:0008572","UMLS:C0162429","UMLS:C3714509","MESH:D009748","MESH:D044342","MEDDRA:10026713","MEDDRA:10061273","NCIT:C26836","SNOMEDCT:248325000","SNOMEDCT:2492009","SNOMEDCT:47563007","SNOMEDCT:65404009","medgen:811347","ICD10:X53","HP:0004395"],"information_content":66.3}
{"id":"MONDO:0005140","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian carcinoma","equivalent_identifiers":["MONDO:0005140","DOID:4001","EFO:0001075","UMLS:C0677886","UMLS:C4721610","MESH:D000077216","NCIT:C4908","medgen:1648335","HP:0025318"],"information_content":63.4}
{"id":"MONDO:0005146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"post-traumatic stress disorder","equivalent_identifiers":["MONDO:0005146","DOID:2055","EFO:0001358","UMLS:C0038436","UMLS:C5539757","MESH:D013313","MEDDRA:10036316","NCIT:C3389","SNOMEDCT:47505003","medgen:21345","ICD10:F43.1","ICD9:309.81","HP:0033676"],"information_content":100.0}
{"id":"MONDO:0005147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus","equivalent_identifiers":["MONDO:0005147","DOID:9744","OMIM:222100","UMLS:C0011854","MESH:D003922","MEDDRA:10012608","MEDDRA:10012609","MEDDRA:10021211","MEDDRA:10022482","MEDDRA:10022497","MEDDRA:10023253","MEDDRA:10045228","MEDDRA:10067584","MEDDRA:10085412","NCIT:C2986","SNOMEDCT:46635009","medgen:41522","icd11.foundation:1651053999","KEGG.DISEASE:04940","HP:0100651"],"information_content":77.6}
{"id":"MONDO:0005148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 2 diabetes mellitus","equivalent_identifiers":["MONDO:0005148","DOID:9352","OMIM:125853","UMLS:C0011860","UMLS:C1852091","UMLS:C4017238","MESH:D003924","MEDDRA:10012611","MEDDRA:10012613","MEDDRA:10026947","MEDDRA:10029402","MEDDRA:10029505","MEDDRA:10045242","MEDDRA:10067585","NCIT:C26747","SNOMEDCT:44054006","medgen:41523","icd11.foundation:119724091","ICD10:E11","KEGG.DISEASE:04930","HP:0005978"],"information_content":78.3}
{"id":"MONDO:0005149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary hypertension","equivalent_identifiers":["MONDO:0005149","DOID:6432","UMLS:C0020542","UMLS:C2973725","MESH:D006976","MEDDRA:10020787","MEDDRA:10037400","MEDDRA:10037401","MEDDRA:10037403","MEDDRA:10064911","NCIT:C157552","NCIT:C3120","SNOMEDCT:11399002","SNOMEDCT:70995007","medgen:9376","icd11.foundation:1496633964","ICD10:I27.20","HP:0002092"],"information_content":80.9}
{"id":"MONDO:0005151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endocrine system disorder","equivalent_identifiers":["MONDO:0005151","DOID:28","EFO:0001379","UMLS:C0014130","UMLS:C4025823","MESH:D004700","MEDDRA:10013217","MEDDRA:10014695","MEDDRA:10014697","MEDDRA:10014698","MEDDRA:10045863","NCIT:C3009","SNOMEDCT:362969004","medgen:4043","ICD10:E34.9","ICD9:259.9","HP:0000818"],"information_content":50.8}
{"id":"MONDO:0005152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypopituitarism","equivalent_identifiers":["MONDO:0005152","DOID:9406","EFO:0001380","UMLS:C0020635","MESH:D007018","MEDDRA:10021066","MEDDRA:10021067","MEDDRA:10022466","MEDDRA:10035093","NCIT:C62591","SNOMEDCT:74728003","medgen:9386","icd11.foundation:768216194","HP:0040075"],"information_content":76.7}
{"id":"MONDO:0005154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liver disorder","equivalent_identifiers":["MONDO:0005154","DOID:409","EFO:0001421","UMLS:C0023895","UMLS:C4021780","MESH:D008107","MEDDRA:10013107","MEDDRA:10013228","MEDDRA:10013234","MEDDRA:10019650","MEDDRA:10019652","MEDDRA:10019653","MEDDRA:10024670","MEDDRA:10045808","MEDDRA:10059616","NCIT:C3196","SNOMEDCT:235856003","medgen:893061","ICD10:K76.9","ICD9:573.9","HP:0001392"],"information_content":59.0}
{"id":"MONDO:0005155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liver cirrhosis","equivalent_identifiers":["MONDO:0005155","DOID:5082","EFO:0001422","UMLS:C0023890","MESH:D008103","MEDDRA:10009211","MEDDRA:10009213","MEDDRA:10019641","MEDDRA:10019642","MEDDRA:10024667","NCIT:C2951","SNOMEDCT:19943007","medgen:7368","ICD10:K74.60","HP:0001394"],"information_content":79.6}
{"id":"MONDO:0005160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm","equivalent_identifiers":["MONDO:0005160","DOID:3627","EFO:0001666","UMLS:C0003486","UMLS:C0265004","UMLS:C0265010","UMLS:C0265012","UMLS:C0741160","UMLS:C1305122","MESH:D001014","MEDDRA:10000053","MEDDRA:10002330","MEDDRA:10002339","MEDDRA:10002882","MEDDRA:10002884","MEDDRA:10002886","MEDDRA:10043464","MEDDRA:10043481","MEDDRA:10051355","MEDDRA:10057453","MEDDRA:10058293","NCIT:C187666","NCIT:C196716","NCIT:C26697","NCIT:C27046","NCIT:C27198","NCIT:C27299","SNOMEDCT:14336007","SNOMEDCT:195258006","SNOMEDCT:195265003","SNOMEDCT:26660001","SNOMEDCT:67362008","SNOMEDCT:73067008","medgen:362","ICD10:I71.1","ICD10:I71.3","ICD10:I71.5","ICD10:I71.8","ICD10:I71.9","ICD9:441.1","ICD9:441.3","ICD9:441.5","ICD9:441.6","HP:0004942"],"information_content":81.7}
{"id":"MONDO:0005164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrosarcoma","equivalent_identifiers":["MONDO:0005164","DOID:3355","orphanet:2030","EFO:0002087","UMLS:C0016057","UMLS:C1302856","UMLS:C1336021","MESH:D005354","MEDDRA:10016632","MEDDRA:10016634","MEDDRA:10016637","NCIT:C3043","NCIT:C6605","SNOMEDCT:1290852005","SNOMEDCT:400163001","SNOMEDCT:443250000","SNOMEDCT:53654007","medgen:5178","HP:0100244"],"information_content":73.1}
{"id":"MONDO:0005166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoma","equivalent_identifiers":["MONDO:0005166","EFO:0002423","UMLS:C0029440","MESH:D010016","MEDDRA:10031249","NCIT:C3296","SNOMEDCT:1156874003","SNOMEDCT:302858007","SNOMEDCT:83612000","medgen:18220","HP:0100246"],"information_content":86.3}
{"id":"MONDO:0005167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibroma","equivalent_identifiers":["MONDO:0005167","DOID:0050871","EFO:0002424","UMLS:C0016045","MESH:D005350","MEDDRA:10016629","MEDDRA:10016630","MEDDRA:10045154","NCIT:C3041","SNOMEDCT:112682009","SNOMEDCT:424568000","medgen:42016","HP:0010614"],"information_content":74.2}
{"id":"MONDO:0005173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"actinic keratosis","equivalent_identifiers":["MONDO:0005173","DOID:8866","EFO:0002496","UMLS:C0022602","UMLS:C1442958","MESH:D055623","MEDDRA:10000614","MEDDRA:10039979","MEDDRA:10039980","MEDDRA:10041304","NCIT:C3148","SNOMEDCT:201101007","SNOMEDCT:856006","medgen:9627","icd11.foundation:1803982621","ICD10:L57.0","ICD9:702.0","HP:0025127"],"information_content":79.6}
{"id":"MONDO:0005178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoarthritis","equivalent_identifiers":["MONDO:0005178","DOID:8398","UMLS:C0029408","UMLS:C0157946","MESH:D010003","MEDDRA:10031161","MEDDRA:10031167","MEDDRA:10031174","MEDDRA:10031186","MEDDRA:10031216","MEDDRA:10049491","NCIT:C3293","SNOMEDCT:225655006","SNOMEDCT:396275006","medgen:45244","icd11.foundation:558562409","ICD9:715.3","HP:0002758"],"information_content":83.1}
{"id":"MONDO:0005181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia","equivalent_identifiers":["MONDO:0005181","DOID:12558","orphanet:520820","EFO:0002509","UMLS:C0162292","UMLS:C0162674","MESH:D017246","MEDDRA:10015754","MEDDRA:10015830","MEDDRA:10030876","MEDDRA:10033561","MEDDRA:10036802","MEDDRA:10069852","SNOMEDCT:19373007","SNOMEDCT:46252003","medgen:102439","icd11.foundation:1698427219","ICD10:H49.4","ICD9:378.72","HP:0000544"],"information_content":81.3}
{"id":"MONDO:0005197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thymus neoplasm","equivalent_identifiers":["MONDO:0005197","orphanet:100100","EFO:0002626","UMLS:C3714644","MESH:D013953","MEDDRA:10056296","NCIT:C3412","SNOMEDCT:127231009","medgen:811424","HP:0100521"],"information_content":68.9}
{"id":"MONDO:0005201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"restrictive cardiomyopathy","equivalent_identifiers":["MONDO:0005201","DOID:397","orphanet:217632","EFO:0002630","UMLS:C0007196","MESH:D002313","MEDDRA:10038748","NCIT:C62798","SNOMEDCT:415295002","SNOMEDCT:90828009","medgen:40111","icd11.foundation:316495940","ICD10:I42.5","HP:0001723"],"information_content":76.2}
{"id":"MONDO:0005207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choriocarcinoma","equivalent_identifiers":["MONDO:0005207","DOID:3594","EFO:0002893","UMLS:C0008497","MESH:D002822","MEDDRA:10008757","MEDDRA:10008759","NCIT:C2948","SNOMEDCT:1156971005","SNOMEDCT:188188009","SNOMEDCT:44769000","medgen:40278","HP:0100768"],"information_content":78.0}
{"id":"MONDO:0005212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhabdomyosarcoma","equivalent_identifiers":["MONDO:0005212","DOID:3247","orphanet:780","EFO:0002918","UMLS:C0035412","MESH:D012208","MEDDRA:10039022","MEDDRA:10039023","MEDDRA:10039024","MEDDRA:10039028","NCIT:C3359","SNOMEDCT:302847003","SNOMEDCT:30924005","medgen:20561","HP:0002859"],"information_content":67.4}
{"id":"MONDO:0005221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal pelvis urothelial carcinoma","equivalent_identifiers":["MONDO:0005221","DOID:5974","EFO:0003017","UMLS:C0238410","UMLS:C1319314","UMLS:C4087468","MEDDRA:10077840","NCIT:C7355","SNOMEDCT:408642003","medgen:1648131","HP:0030409"],"information_content":78.8}
{"id":"MONDO:0005223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with minimal differentiation","equivalent_identifiers":["MONDO:0005223","DOID:0081085","orphanet:98832","EFO:0003026","UMLS:C0522631","MEDDRA:10000885","MEDDRA:10000888","NCIT:C8460","SNOMEDCT:103689001","medgen:101100","icd11.foundation:1468530237","ICD10:C92.0"],"information_content":92.8}
{"id":"MONDO:0005224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloblastic leukemia without maturation","equivalent_identifiers":["MONDO:0005224","DOID:0081086","orphanet:98833","EFO:0003027","UMLS:C0026998","NCIT:C3249","SNOMEDCT:103690005","SNOMEDCT:359640008","medgen:10232"],"information_content":92.8}
{"id":"MONDO:0005227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abscess","equivalent_identifiers":["MONDO:0005227","EFO:0003030","UMLS:C0000833","MESH:D000038","MEDDRA:10000269","MEDDRA:10000287","NCIT:C26686","SNOMEDCT:128477000","SNOMEDCT:44132006","medgen:1684","HP:0025615"],"information_content":75.8}
{"id":"MONDO:0005229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacteriemia","equivalent_identifiers":["MONDO:0005229","DOID:0040085","EFO:0003033","UMLS:C0004610","MESH:D016470","MEDDRA:10003997","MEDDRA:10003998","MEDDRA:10003999","MEDDRA:10045641","MEDDRA:10045642","MEDDRA:10060562","NCIT:C102993","SNOMEDCT:5758002","medgen:482","ICD9:995.91","HP:0031864"],"information_content":85.5}
{"id":"MONDO:0005230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cellulitis","equivalent_identifiers":["MONDO:0005230","DOID:3488","EFO:0003035","UMLS:C0007642","UMLS:C0007646","UMLS:C0162627","MESH:D002481","MEDDRA:10007882","MEDDRA:10049022","MEDDRA:10052891","NCIT:C157794","NCIT:C26715","NCIT:C34454","SNOMEDCT:128045006","SNOMEDCT:128936008","SNOMEDCT:385627004","SNOMEDCT:62837005","medgen:40174","ICD10:L03.90","HP:0100658"],"information_content":89.4}
{"id":"MONDO:0005233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-small cell lung carcinoma","equivalent_identifiers":["MONDO:0005233","DOID:3908","EFO:0003060","UMLS:C0007131","MESH:D002289","MEDDRA:10029514","MEDDRA:10061873","NCIT:C2926","SNOMEDCT:254637007","medgen:40104","KEGG.DISEASE:05223","HP:0030358"],"information_content":65.1}
{"id":"MONDO:0005236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xanthoma","equivalent_identifiers":["MONDO:0005236","EFO:0003075","UMLS:C0155210","UMLS:C0302314","UMLS:C4280601","UMLS:C4280602","MEDDRA:10048211","MEDDRA:10048212","MEDDRA:10048214","NCIT:C3651","NCIT:C4071","SNOMEDCT:238951005","SNOMEDCT:6400008","SNOMEDCT:75594004","medgen:86216","HP:0001114"],"information_content":90.9}
{"id":"MONDO:0005240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kidney disorder","equivalent_identifiers":["MONDO:0005240","DOID:557","EFO:0003086","UMLS:C0022658","UMLS:C1408258","MESH:D007674","MEDDRA:10013263","MEDDRA:10029149","MEDDRA:10029151","MEDDRA:10029154","MEDDRA:10038428","MEDDRA:10038429","MEDDRA:10051051","MEDDRA:10051052","NCIT:C3149","NCIT:C34843","SNOMEDCT:90708001","medgen:9635","HP:0000112"],"information_content":57.2}
{"id":"MONDO:0005244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy","equivalent_identifiers":["MONDO:0005244","DOID:870","EFO:0003100","UMLS:C0031117","UMLS:C0442874","MEDDRA:10029328","MEDDRA:10029330","NCIT:C119734","NCIT:C4731","SNOMEDCT:386033004","medgen:18386","ICD10:G62.9","HP:0009830"],"information_content":59.7}
{"id":"MONDO:0005246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteomyelitis","equivalent_identifiers":["MONDO:0005246","DOID:1019","EFO:0003102","UMLS:C0008707","UMLS:C0029443","UMLS:C2242472","MESH:D010019","MEDDRA:10005977","MEDDRA:10009081","MEDDRA:10009091","MEDDRA:10031252","MEDDRA:10031256","MEDDRA:10031257","MEDDRA:10031259","MEDDRA:10045927","MEDDRA:10045936","MEDDRA:10046076","MEDDRA:10046086","MEDDRA:10061017","NCIT:C26839","NCIT:C27577","SNOMEDCT:111253001","SNOMEDCT:40970001","SNOMEDCT:60168000","medgen:10497","ICD9:730.1","HP:0002754"],"information_content":86.3}
{"id":"MONDO:0005249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pneumonia","equivalent_identifiers":["MONDO:0005249","DOID:552","EFO:0003106","UMLS:C0032285","MESH:D011014","MEDDRA:10035664","MEDDRA:10035725","MEDDRA:10059809","MEDDRA:10077942","NCIT:C3333","SNOMEDCT:233604007","medgen:10813","icd11.foundation:142052508","HP:0002090"],"information_content":75.7}
{"id":"MONDO:0005252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart failure","equivalent_identifiers":["MONDO:0005252","EFO:0003144","UMLS:C0018801","UMLS:C0018802","UMLS:C0264716","UMLS:C1959583","MESH:D006333","MEDDRA:10007554","MEDDRA:10007555","MEDDRA:10007558","MEDDRA:10007559","MEDDRA:10007562","MEDDRA:10007564","MEDDRA:10007568","MEDDRA:10007569","MEDDRA:10007582","MEDDRA:10008908","MEDDRA:10010682","MEDDRA:10010684","MEDDRA:10016145","MEDDRA:10016146","MEDDRA:10019279","MEDDRA:10019280","MEDDRA:10019282","MEDDRA:10019284","MEDDRA:10019285","MEDDRA:10019290","MEDDRA:10022462","NCIT:C50577","SNOMEDCT:42343007","SNOMEDCT:48447003","SNOMEDCT:84114007","medgen:6749","icd11.foundation:1458683894","HP:0001635"],"information_content":75.7}
{"id":"MONDO:0005258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism spectrum disorder","equivalent_identifiers":["MONDO:0005258","DOID:0060041","EFO:0003756","UMLS:C0856975","UMLS:C1510586","MESH:D000067877","MEDDRA:10003807","MEDDRA:10062379","MEDDRA:10063844","NCIT:C88412","medgen:307153","icd11.foundation:437815624","HP:0000729"],"information_content":74.6}
{"id":"MONDO:0005260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism","equivalent_identifiers":["MONDO:0005260","DOID:12849","OMIM:209850","EFO:0003758","UMLS:C0004352","MESH:D001321","MEDDRA:10003805","MEDDRA:10003806","MEDDRA:10003808","MEDDRA:10008520","MEDDRA:10014043","MEDDRA:10021737","MEDDRA:10023277","NCIT:C97161","SNOMEDCT:408856003","SNOMEDCT:408857007","SNOMEDCT:43614003","medgen:13966","ICD10:F84.0","ICD9:299.0","HP:0000717"],"information_content":77.3}
{"id":"MONDO:0005262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central nervous system cyst","equivalent_identifiers":["MONDO:0005262","EFO:0003760","UMLS:C0349606","MESH:D020863","NCIT:C4657","SNOMEDCT:277333006","medgen:138106","HP:0030724"],"information_content":78.8}
{"id":"MONDO:0005264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient ischemic attack","equivalent_identifiers":["MONDO:0005264","DOID:224","EFO:0003764","UMLS:C0007787","UMLS:C0917805","MESH:D002546","MEDDRA:10043821","MEDDRA:10044374","MEDDRA:10044375","MEDDRA:10044390","MEDDRA:10044391","MEDDRA:10046183","MEDDRA:10055755","MEDDRA:10072760","MEDDRA:10072761","NCIT:C50781","SNOMEDCT:266257000","medgen:853","ICD10:G45.9","HP:0002326"],"information_content":95.4}
{"id":"MONDO:0005265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease","equivalent_identifiers":["MONDO:0005265","DOID:0050589","OMIM.PS:266600","EFO:0003767","UMLS:C0021390","UMLS:C0578878","MESH:D015212","MEDDRA:10021184","MEDDRA:10021972","MEDDRA:10021973","NCIT:C3138","SNOMEDCT:24526004","SNOMEDCT:302168000","medgen:43877","KEGG.DISEASE:05321","HP:0002037"],"information_content":70.9}
{"id":"MONDO:0005271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Allergy","equivalent_identifiers":["MONDO:0005271","DOID:1205","UMLS:C0020517","UMLS:C1527304","UMLS:C3539909","MESH:D006967","MEDDRA:10001718","MEDDRA:10001719","MEDDRA:10001738","MEDDRA:10001741","MEDDRA:10020751","MEDDRA:10020755","MEDDRA:10020756","MEDDRA:10020757","MEDDRA:10020759","MEDDRA:10037932","MEDDRA:10037948","NCIT:C114476","SNOMEDCT:419076005","SNOMEDCT:421961002","SNOMEDCT:609328004","medgen:9370","ICD10:T78.40","HP:0012393"],"information_content":73.1}
{"id":"MONDO:0005272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelodysplastic syndrome with single lineage dysplasia","equivalent_identifiers":["MONDO:0005272","orphanet:98826","EFO:0003802","UMLS:C0002893","UMLS:C2826318","MESH:D000753","MEDDRA:10002311","MEDDRA:10038269","MEDDRA:10038273","MEDDRA:10055722","MEDDRA:10072684","MEDDRA:10088025","NCIT:C2872","NCIT:C82591","SNOMEDCT:109996008","SNOMEDCT:1153345005","SNOMEDCT:128845005","medgen:415300","icd11.foundation:149518956","HP:0005505"],"information_content":90.9}
{"id":"MONDO:0005275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung disorder","equivalent_identifiers":["MONDO:0005275","DOID:850","EFO:0003818","UMLS:C0024115","UMLS:C4021760","MESH:D008171","MEDDRA:10013235","MEDDRA:10013259","MEDDRA:10025082","MEDDRA:10025083","MEDDRA:10037373","MEDDRA:10049490","MEDDRA:10051054","NCIT:C3198","SNOMEDCT:19829001","medgen:7399","ICD10:J98.4","HP:0002088"],"information_content":56.4}
{"id":"MONDO:0005276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dental caries","equivalent_identifiers":["MONDO:0005276","DOID:216","EFO:0003819","UMLS:C0011334","UMLS:C4280623","MESH:D003731","MEDDRA:10007666","MEDDRA:10011947","MEDDRA:10012318","MEDDRA:10044020","MEDDRA:10044023","MEDDRA:10044027","MEDDRA:10048297","MEDDRA:10048298","MEDDRA:10085528","NCIT:C52593","SNOMEDCT:80967001","medgen:8288","icd11.foundation:1983306720","ICD10:K02.6","ICD9:521.0","ICD9:521.07","HP:0000670"],"information_content":87.2}
{"id":"MONDO:0005277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine","equivalent_identifiers":["MONDO:0005277","DOID:6364","UMLS:C0042331","UMLS:C0149931","UMLS:C0744641","MESH:D008881","MEDDRA:10027599","MEDDRA:10027602","MEDDRA:10027603","MEDDRA:10027605","MEDDRA:10027606","MEDDRA:10027608","MEDDRA:10027611","NCIT:C89715","SNOMEDCT:193030005","medgen:57451","ICD10:G43","ICD9:346","HP:0002076"],"information_content":81.3}
{"id":"MONDO:0005279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary embolism","equivalent_identifiers":["MONDO:0005279","DOID:9477","EFO:0003827","UMLS:C0034065","MESH:D011655","MEDDRA:10014521","MEDDRA:10014537","MEDDRA:10037377","MEDDRA:10037380","MEDDRA:10050071","MEDDRA:10082134","MEDDRA:10088860","NCIT:C50713","SNOMEDCT:59282003","medgen:11027","ICD10:I26","HP:0002204"],"information_content":87.2}
{"id":"MONDO:0005280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostatitis","equivalent_identifiers":["MONDO:0005280","DOID:14654","EFO:0003830","UMLS:C0033581","MESH:D011472","MEDDRA:10036978","MEDDRA:10036982","MEDDRA:10087880","NCIT:C26866","SNOMEDCT:9713002","medgen:10965","ICD10:N41.9","ICD9:601.9","HP:0000024"],"information_content":85.5}
{"id":"MONDO:0005283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal disease","equivalent_identifiers":["MONDO:0005283","DOID:5679","EFO:0003839","UMLS:C0035300","UMLS:C0035309","MESH:D012164","MEDDRA:10013265","MEDDRA:10038853","MEDDRA:10038854","MEDDRA:10038923","MEDDRA:10046146","MEDDRA:10048487","NCIT:C26875","NCIT:C62601","SNOMEDCT:29555009","medgen:11209","ICD10:H35.9","ICD9:362.9","HP:0000479"],"information_content":56.1}
{"id":"MONDO:0005288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal polyp","equivalent_identifiers":["MONDO:0005288","EFO:0003855","UMLS:C0021846","MESH:D007417","MEDDRA:10048616","SNOMEDCT:254588001","medgen:9526","HP:0005266"],"information_content":81.3}
{"id":"MONDO:0005289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paranasal sinus neoplasm","equivalent_identifiers":["MONDO:0005289","DOID:1350","EFO:0003866","UMLS:C0030470","MESH:D010255","MEDDRA:10057448","NCIT:C7488","SNOMEDCT:126675008","medgen:18296","HP:0030072"],"information_content":72.0}
{"id":"MONDO:0005291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain aneurysm","equivalent_identifiers":["MONDO:0005291","DOID:10941","EFO:0003870","UMLS:C0007766","UMLS:C0155730","UMLS:C0751003","UMLS:C0917996","UMLS:C1290398","UMLS:C4476540","MESH:D002532","MEDDRA:10002333","MEDDRA:10002334","MEDDRA:10002337","MEDDRA:10008075","MEDDRA:10008078","MEDDRA:10022758","NCIT:C101022","NCIT:C27208","NCIT:C27222","NCIT:C34458","SNOMEDCT:128608001","SNOMEDCT:128609009","medgen:196706","HP:0004944"],"information_content":82.6}
{"id":"MONDO:0005292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colitis","equivalent_identifiers":["MONDO:0005292","DOID:0060180","EFO:0003872","UMLS:C0009319","MESH:D003092","MEDDRA:10009887","MEDDRA:10009889","MEDDRA:10009898","MEDDRA:10079511","MEDDRA:10087699","MEDDRA:10087700","NCIT:C26723","SNOMEDCT:64226004","medgen:40385","ICD10:K52.9","HP:0002583"],"information_content":79.0}
{"id":"MONDO:0005293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"flatfoot","equivalent_identifiers":["MONDO:0005293","EFO:0003874","UMLS:C0016202","UMLS:C0264133","MESH:D005413","MEDDRA:10016176","MEDDRA:10016762","MEDDRA:10016763","MEDDRA:10034744","MEDDRA:10034746","MEDDRA:10067707","MEDDRA:10085651","NCIT:C34616","SNOMEDCT:203534009","SNOMEDCT:53226007","medgen:42034","HP:0001763"],"information_content":95.4}
{"id":"MONDO:0005294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral vascular disease","equivalent_identifiers":["MONDO:0005294","DOID:341","EFO:0003875","EFO:0009085","UMLS:C0003834","UMLS:C0003838","UMLS:C0031115","UMLS:C0085096","UMLS:C0750145","UMLS:C1704436","UMLS:C4025272","UMLS:C4531019","MESH:D001157","MESH:D016491","MEDDRA:10009194","MEDDRA:10013255","MEDDRA:10013283","MEDDRA:10034633","MEDDRA:10034634","MEDDRA:10034635","MEDDRA:10034636","MEDDRA:10034637","MEDDRA:10047063","MEDDRA:10062542","MEDDRA:10062599","MEDDRA:10067825","NCIT:C127821","NCIT:C35136","SNOMEDCT:195374003","SNOMEDCT:2929001","SNOMEDCT:400047006","SNOMEDCT:840580004","medgen:38790","ICD9:443.81","HP:0004950"],"information_content":79.9}
{"id":"MONDO:0005295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermittent vascular claudication","equivalent_identifiers":["MONDO:0005295","DOID:3669","EFO:0003876","UMLS:C0021775","MESH:D007383","MEDDRA:10008411","MEDDRA:10009241","MEDDRA:10022562","MEDDRA:10056868","SNOMEDCT:63491006","medgen:7115","ICD10:I73.9","HP:0004417"],"information_content":100.0}
{"id":"MONDO:0005296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sleep apnea","equivalent_identifiers":["MONDO:0005296","DOID:0050847","EFO:0003877","UMLS:C0037315","UMLS:C0236845","UMLS:C4551689","MESH:D012891","MEDDRA:10006344","MEDDRA:10040975","MEDDRA:10040976","MEDDRA:10040977","MEDDRA:10040978","MEDDRA:10040979","MEDDRA:10040980","MEDDRA:10053654","MEDDRA:10055575","NCIT:C148023","NCIT:C26884","SNOMEDCT:111489007","SNOMEDCT:73430006","medgen:11458","ICD10:G47.3","ICD9:780.57","HP:0010535"],"information_content":83.1}
{"id":"MONDO:0005297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urethritis","equivalent_identifiers":["MONDO:0005297","DOID:1343","EFO:0003878","UMLS:C0041976","UMLS:C0311389","UMLS:C1112709","MESH:D014526","MEDDRA:10029545","MEDDRA:10046480","MEDDRA:10046487","MEDDRA:10046488","MEDDRA:10046492","MEDDRA:10057747","MEDDRA:10073194","NCIT:C26904","NCIT:C27079","SNOMEDCT:31822004","SNOMEDCT:84619001","medgen:52934","ICD10:N34.2","ICD9:597.80","HP:0500006"],"information_content":87.2}
{"id":"MONDO:0005298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoporosis","equivalent_identifiers":["MONDO:0005298","DOID:11476","OMIM:166710","EFO:0003882","UMLS:C0001787","UMLS:C0029456","UMLS:C0029459","UMLS:C2674640","UMLS:C3888192","MESH:D010024","MEDDRA:10031282","MEDDRA:10031284","MEDDRA:10031286","MEDDRA:10031289","MEDDRA:10039984","NCIT:C3298","SNOMEDCT:18040001","SNOMEDCT:64859006","medgen:14535","icd11.foundation:2113001430","ICD10:M81.0","ICD9:733.0","HP:0000939"],"information_content":77.6}
{"id":"MONDO:0005299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain ischemia","equivalent_identifiers":["MONDO:0005299","DOID:2316","UMLS:C0007786","UMLS:C0917798","MESH:D002545","MEDDRA:10008120","MEDDRA:10008121","MEDDRA:10023029","MEDDRA:10023030","MEDDRA:10055749","MEDDRA:10055750","MEDDRA:10070513","MEDDRA:10070514","NCIT:C78394","SNOMEDCT:287731003","SNOMEDCT:389100007","medgen:182975","HP:0002637"],"information_content":88.2}
{"id":"MONDO:0005300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic kidney disease","equivalent_identifiers":["MONDO:0005300","DOID:784","EFO:0003884","UMLS:C0748318","UMLS:C1561643","MESH:D007676","MEDDRA:10036812","MEDDRA:10064848","NCIT:C80078","SNOMEDCT:709044004","medgen:473458","icd11.foundation:412389819","ICD10:N18.9","HP:0012622"],"information_content":82.1}
{"id":"MONDO:0005302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"attention deficit hyperactivity disorder, inattentive type","equivalent_identifiers":["MONDO:0005302","DOID:1094","UMLS:C0041671","UMLS:C0339002","UMLS:C1263846","UMLS:C1321905","MESH:D001289","MEDDRA:10003731","MEDDRA:10003733","MEDDRA:10003734","MEDDRA:10003735","MEDDRA:10003736","MEDDRA:10003737","MEDDRA:10020555","MEDDRA:10020658","MEDDRA:10020659","MEDDRA:10027642","MEDDRA:10042816","MEDDRA:10064104","MEDDRA:10068452","MEDDRA:10068453","MEDDRA:10083622","NCIT:C35092","SNOMEDCT:35253001","SNOMEDCT:406506008","SNOMEDCT:7461003","medgen:473060","HP:0007018"],"information_content":95.4}
{"id":"MONDO:0005304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biliary tract neoplasm","equivalent_identifiers":["MONDO:0005304","DOID:0050625","EFO:0003891","UMLS:C0005426","UMLS:C4020709","MESH:D001661","MEDDRA:10004667","MEDDRA:10004668","MEDDRA:10004669","MEDDRA:10028982","SNOMEDCT:126853008","medgen:14118","HP:0100574"],"information_content":72.0}
{"id":"MONDO:0005310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial flutter","equivalent_identifiers":["MONDO:0005310","EFO:0003911","UMLS:C0004239","MESH:D001282","MEDDRA:10003662","MEDDRA:10016827","NCIT:C51224","SNOMEDCT:5370000","medgen:13955","HP:0004749"],"information_content":92.8}
{"id":"MONDO:0005311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atherosclerosis","equivalent_identifiers":["MONDO:0005311","DOID:1936","EFO:0003914","UMLS:C0004153","UMLS:C2711237","UMLS:C4280569","MESH:D050197","MEDDRA:10003601","MEDDRA:10051615","MEDDRA:10065530","NCIT:C35768","NCIT:C35771","SNOMEDCT:38716007","SNOMEDCT:441574008","medgen:13948","ICD10:I70","ICD9:440","HP:0002621"],"information_content":77.8}
{"id":"MONDO:0005312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pouchitis","equivalent_identifiers":["MONDO:0005312","orphanet:217067","EFO:0003921","UMLS:C0376620","MESH:D019449","MEDDRA:10036463","medgen:138232"],"information_content":100.0}
{"id":"MONDO:0005313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"necrotizing enterocolitis","equivalent_identifiers":["MONDO:0005313","orphanet:391673","EFO:0003928","UMLS:C0520459","MESH:D020345","MEDDRA:10014899","MEDDRA:10028884","MEDDRA:10055642","MEDDRA:10055646","NCIT:C84915","SNOMEDCT:2707005","medgen:105440","icd11.foundation:141267925","HP:0033165"],"information_content":92.8}
{"id":"MONDO:0005321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fuchs' endothelial dystrophy","equivalent_identifiers":["MONDO:0005321","DOID:11555","OMIM.PS:136800","orphanet:98974","UMLS:C0016781","MESH:D005642","MEDDRA:10062973","NCIT:C84721","SNOMEDCT:193839007","medgen:4800","ICD10:H18.51"],"information_content":85.5}
{"id":"MONDO:0005324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hay fever","equivalent_identifiers":["MONDO:0005324","EFO:0003956","UMLS:C0018621","MESH:D006255","MEDDRA:10001726","MEDDRA:10019170","MEDDRA:10036019","MEDDRA:10036020","MEDDRA:10039776","MEDDRA:10048908","MEDDRA:10087758","NCIT:C92188","SNOMEDCT:21719001","SNOMEDCT:300910009","SNOMEDCT:367498001","SNOMEDCT:444316004","medgen:42335","HP:0012395"],"information_content":100.0}
{"id":"MONDO:0005328","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eye disorder","equivalent_identifiers":["MONDO:0005328","DOID:1242","DOID:5614","EFO:0003966","EFO:0009664","UMLS:C0015393","UMLS:C0015397","UMLS:C0154780","UMLS:C4316870","MESH:D005124","MESH:D005128","MEDDRA:10010435","MEDDRA:10010462","MEDDRA:10013221","MEDDRA:10015903","MEDDRA:10015904","MEDDRA:10015913","MEDDRA:10015916","MEDDRA:10015918","MEDDRA:10015919","MEDDRA:10015920","MEDDRA:10015949","MEDDRA:10030874","MEDDRA:10045628","MEDDRA:10045783","MEDDRA:10045790","MEDDRA:10054716","MEDDRA:10059159","NCIT:C26767","NCIT:C98887","SNOMEDCT:19416009","SNOMEDCT:371405004","medgen:1370071","medgen:5092","ICD10:H44","ICD10:H44.39","ICD9:360.29","ICD9:379.90","HP:0000478"],"information_content":48.7}
{"id":"MONDO:0005335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colorectal neoplasm","equivalent_identifiers":["MONDO:0005335","EFO:0004142","UMLS:C0009404","MESH:D015179","MEDDRA:10089336","NCIT:C2956","SNOMEDCT:126837005","medgen:3171","HP:0100834"],"information_content":58.0}
{"id":"MONDO:0005336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy","equivalent_identifiers":["MONDO:0005336","DOID:423","EFO:0004145","UMLS:C0026848","MEDDRA:10013237","MEDDRA:10028300","MEDDRA:10028301","MEDDRA:10028302","MEDDRA:10028640","MEDDRA:10028641","MEDDRA:10028649","NCIT:C101216","SNOMEDCT:129565002","medgen:10135","icd11.foundation:1870184184","ICD10:G72.9","ICD9:359.9","HP:0003198"],"information_content":59.1}
{"id":"MONDO:0005339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Frontal balding","equivalent_identifiers":["MONDO:0005339","DOID:0050801","EFO:0004191","UMLS:C0162311","UMLS:C1864584","UMLS:C4083212","MEDDRA:10025514","MEDDRA:10068168","MEDDRA:10068558","SNOMEDCT:201144006","SNOMEDCT:87872006","medgen:56404","HP:0002292"],"information_content":89.4}
{"id":"MONDO:0005340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia areata","equivalent_identifiers":["MONDO:0005340","DOID:986","EFO:0004192","UMLS:C0002171","UMLS:C1862862","MESH:D000506","MEDDRA:10001761","SNOMEDCT:68225006","medgen:213","icd11.foundation:65720611","ICD10:L63","ICD9:704.01","HP:0002232"],"information_content":92.8}
{"id":"MONDO:0005341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin basal cell carcinoma","equivalent_identifiers":["MONDO:0005341","DOID:2513","UMLS:C0007117","UMLS:C1368295","UMLS:C1862314","UMLS:C4721806","MEDDRA:10004146","MEDDRA:10004150","MEDDRA:10007286","MEDDRA:10039208","MEDDRA:10077422","NCIT:C2921","NCIT:C7586","SNOMEDCT:1338007","SNOMEDCT:252995000","SNOMEDCT:254701007","SNOMEDCT:275265005","medgen:1648304","KEGG.DISEASE:05217","HP:0002671"],"information_content":73.0}
{"id":"MONDO:0005342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgA Nephropathy","equivalent_identifiers":["MONDO:0005342","DOID:2986","orphanet:34145","EFO:0004194","UMLS:C0017661","UMLS:C3161650","UMLS:C4025827","MESH:D005922","MEDDRA:10018369","MEDDRA:10021263","MEDDRA:10069341","NCIT:C34643","NCIT:C35280","SNOMEDCT:236407003","SNOMEDCT:68779003","medgen:9032","HP:0000794"],"information_content":89.4}
{"id":"MONDO:0005345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypospadias","equivalent_identifiers":["MONDO:0005345","DOID:10892","OMIM.PS:300633","EFO:0004209","UMLS:C0848558","MESH:D007021","MEDDRA:10021093","NCIT:C40341","SNOMEDCT:416010008","medgen:163083","icd11.foundation:810247271","ICD10:Q54","HP:0000047"],"information_content":69.7}
{"id":"MONDO:0005347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertriglyceridemia","equivalent_identifiers":["MONDO:0005347","EFO:0004211","UMLS:C0020557","UMLS:C0813230","UMLS:C1522137","MESH:D015228","MEDDRA:10014486","MEDDRA:10020869","MEDDRA:10020870","MEDDRA:10040424","MEDDRA:10044664","MEDDRA:10051173","MEDDRA:10054411","NCIT:C37971","SNOMEDCT:166848004","SNOMEDCT:302870006","medgen:167238","HP:0002155"],"information_content":90.9}
{"id":"MONDO:0005348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keloid","equivalent_identifiers":["MONDO:0005348","EFO:0004212","UMLS:C0022548","MESH:D007627","MEDDRA:10023329","MEDDRA:10023330","NCIT:C3145","SNOMEDCT:33659008","SNOMEDCT:58405006","medgen:7197","icd11.foundation:2057714006","HP:0010562"],"information_content":95.4}
{"id":"MONDO:0005349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otosclerosis","equivalent_identifiers":["MONDO:0005349","DOID:12185","OMIM.PS:166800","EFO:0004213","UMLS:C0029696","UMLS:C0029899","MESH:D010040","MEDDRA:10033103","MEDDRA:10033107","MEDDRA:10033108","MEDDRA:10060807","NCIT:C185242","SNOMEDCT:11543004","medgen:10508","icd11.foundation:1242649410","ICD10:H80.80","ICD9:387.8","HP:0000362"],"information_content":83.6}
{"id":"MONDO:0005350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abdominal aortic aneurysm","equivalent_identifiers":["MONDO:0005350","DOID:7693","EFO:0004214","UMLS:C0162871","UMLS:C4025248","MESH:D017544","MEDDRA:10000051","MEDDRA:10000054","MEDDRA:10002338","NCIT:C27000","SNOMEDCT:233985008","medgen:56524","icd11.foundation:1154633768","HP:0005112"],"information_content":88.2}
{"id":"MONDO:0005351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anorexia","equivalent_identifiers":["MONDO:0005351","DOID:8689","UMLS:C0003123","UMLS:C0003125","UMLS:C0424424","UMLS:C1971624","MESH:D000855","MESH:D000856","MEDDRA:10002646","MEDDRA:10002649","MEDDRA:10003017","MEDDRA:10003025","MEDDRA:10003028","MEDDRA:10052625","MEDDRA:10080283","NCIT:C2875","NCIT:C34387","SNOMEDCT:105481005","SNOMEDCT:56882008","SNOMEDCT:79890006","medgen:316","icd11.foundation:263852475","ICD10:F50.0","ICD9:307.1","HP:0002039"],"information_content":67.6}
{"id":"MONDO:0005362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"impotence","equivalent_identifiers":["MONDO:0005362","DOID:1875","EFO:0004234","UMLS:C0242350","MESH:D007172","MEDDRA:10015116","MEDDRA:10015118","MEDDRA:10021550","MEDDRA:10021552","MEDDRA:10025503","MEDDRA:10052003","MEDDRA:10061461","NCIT:C3133","SNOMEDCT:397803000","SNOMEDCT:860914002","medgen:66879","HP:0000802"],"information_content":88.2}
{"id":"MONDO:0005364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Graves disease","equivalent_identifiers":["MONDO:0005364","DOID:12361","EFO:0004237","UMLS:C0018213","UMLS:C5546093","MESH:D006111","MEDDRA:10004161","MEDDRA:10015679","MEDDRA:10015680","MEDDRA:10018494","MEDDRA:10018706","MEDDRA:10065624","MEDDRA:10068004","MEDDRA:10074037","NCIT:C3071","SNOMEDCT:353295004","SNOMEDCT:55807009","medgen:6677","ICD10:E05.0","HP:0100647"],"information_content":86.3}
{"id":"MONDO:0005365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness","equivalent_identifiers":["MONDO:0005365","EFO:0001063","EFO:0004238","UMLS:C0011053","UMLS:C0018772","UMLS:C0339789","UMLS:C1384666","UMLS:C3665473","UMLS:C3887873","MESH:D003638","MESH:D034381","MEDDRA:10010431","MEDDRA:10011878","MEDDRA:10011879","MEDDRA:10011880","MEDDRA:10011882","MEDDRA:10011892","MEDDRA:10019241","MEDDRA:10019245","MEDDRA:10019246","MEDDRA:10019247","MEDDRA:10019869","MEDDRA:10029439","MEDDRA:10045726","MEDDRA:10045900","MEDDRA:10048865","MEDDRA:10050010","MEDDRA:10050564","MEDDRA:10052556","MEDDRA:10067879","MEDDRA:10089132","NCIT:C27643","NCIT:C27644","NCIT:C35731","NCIT:C36193","NCIT:C50576","SNOMEDCT:103276001","SNOMEDCT:15188001","SNOMEDCT:162344009","SNOMEDCT:343087000","SNOMEDCT:95828007","medgen:235586","HP:0000365"],"information_content":64.6}
{"id":"MONDO:0005369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carcinoid tumor","equivalent_identifiers":["MONDO:0005369","EFO:0004243","UMLS:C0007095","MESH:D002276","MEDDRA:10007271","MEDDRA:10007275","MEDDRA:10007276","MEDDRA:10007283","NCIT:C2915","SNOMEDCT:189607006","SNOMEDCT:443492008","medgen:2838","HP:0100570"],"information_content":79.9}
{"id":"MONDO:0005372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"male infertility","equivalent_identifiers":["MONDO:0005372","DOID:12336","EFO:0004248","UMLS:C0021364","MESH:D007248","MEDDRA:10021929","MEDDRA:10025511","SNOMEDCT:2904007","medgen:5796","icd11.foundation:753457327","ICD10:N46","ICD9:606","HP:0003251"],"information_content":68.4}
{"id":"MONDO:0005375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasopharyngeal neoplasm","equivalent_identifiers":["MONDO:0005375","EFO:0004252","UMLS:C0027439","MESH:D009303","MEDDRA:10083253","MEDDRA:10083257","NCIT:C3257","SNOMEDCT:126680004","medgen:6526","HP:0100630"],"information_content":70.5}
{"id":"MONDO:0005376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"membranous glomerulonephritis","equivalent_identifiers":["MONDO:0005376","DOID:10976","EFO:0004254","UMLS:C0017665","MESH:D015433","MEDDRA:10018372","MEDDRA:10027170","NCIT:C34645","SNOMEDCT:77182004","medgen:42231","ICD10:N03.2","HP:0012578"],"information_content":84.2}
{"id":"MONDO:0005377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome","equivalent_identifiers":["MONDO:0005377","DOID:1184","EFO:0004255","UMLS:C0027726","MESH:D009404","MEDDRA:10029164","MEDDRA:10042826","NCIT:C34845","SNOMEDCT:52254009","medgen:10308","icd11.foundation:1184209951","ICD9:581","HP:0000100"],"information_content":70.2}
{"id":"MONDO:0005380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteonecrosis","equivalent_identifiers":["MONDO:0005380","DOID:0080008","DOID:10159","orphanet:399158","EFO:0004259","UMLS:C0003977","UMLS:C0029445","UMLS:C0085660","UMLS:C0158442","UMLS:C0158449","UMLS:C0158450","UMLS:C0158451","UMLS:C0520474","UMLS:C0745048","UMLS:C0877326","MESH:D010020","MEDDRA:10003459","MEDDRA:10003460","MEDDRA:10003461","MEDDRA:10003462","MEDDRA:10003463","MEDDRA:10003464","MEDDRA:10003465","MEDDRA:10003467","MEDDRA:10005994","MEDDRA:10023264","MEDDRA:10028855","MEDDRA:10031239","MEDDRA:10031264","MEDDRA:10049824","NCIT:C27220","NCIT:C34404","NCIT:C34880","NCIT:C35226","NCIT:C35476","NCIT:C35517","SNOMEDCT:1335749006","SNOMEDCT:203475004","SNOMEDCT:203478002","SNOMEDCT:240196003","SNOMEDCT:268030004","SNOMEDCT:398199007","SNOMEDCT:62100001","SNOMEDCT:72756009","medgen:45249","icd11.foundation:536467755","ICD10:M87","ICD10:M87.9","ICD9:732.3","ICD9:733.41","ICD9:733.42","ICD9:733.43","ICD9:733.44","HP:0010885"],"information_content":76.0}
{"id":"MONDO:0005382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone Paget disease","equivalent_identifiers":["MONDO:0005382","DOID:5408","OMIM.PS:167250","EFO:0004261","UMLS:C0029401","MESH:D010001","MEDDRA:10031151","MEDDRA:10033362","MEDDRA:10033363","NCIT:C3292","SNOMEDCT:2089002","medgen:10493","ICD10:M88","HP:0034159"],"information_content":87.2}
{"id":"MONDO:0005385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aneurysm","equivalent_identifiers":["MONDO:0005385","DOID:178","EFO:0004264","EFO:0009659","UMLS:C0002940","UMLS:C0042373","UMLS:C0752127","UMLS:C4020848","MESH:D000783","MESH:D014652","MESH:D020758","MEDDRA:10002329","MEDDRA:10002360","MEDDRA:10013282","MEDDRA:10047059","MEDDRA:10047062","MEDDRA:10047065","MEDDRA:10059245","NCIT:C26693","NCIT:C35117","SNOMEDCT:27550009","SNOMEDCT:432119003","SNOMEDCT:85659009","medgen:22621","ICD10:I72","ICD10:I72.9","ICD9:442.9","HP:0002617"],"information_content":55.3}
{"id":"MONDO:0005387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ovarian failure","equivalent_identifiers":["MONDO:0005387","DOID:5426","EFO:0004266","UMLS:C0085215","UMLS:C0948896","MESH:D016649","MEDDRA:10033168","MEDDRA:10036602","MEDDRA:10036721","MEDDRA:10052649","MEDDRA:10052660","MEDDRA:10075905","NCIT:C113348","NCIT:C113352","SNOMEDCT:370999003","SNOMEDCT:65846009","medgen:38820","ICD10:E28.3","HP:0000815"],"information_content":71.1}
{"id":"MONDO:0005388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary biliary cholangitis","equivalent_identifiers":["MONDO:0005388","DOID:12236","OMIM.PS:109720","orphanet:186","EFO:0004267","EFO:1001486","UMLS:C0008312","UMLS:C0023892","MESH:D008105","MEDDRA:10004659","MEDDRA:10004660","MEDDRA:10004661","MEDDRA:10009024","MEDDRA:10009210","MEDDRA:10019137","MEDDRA:10036680","MEDDRA:10080429","NCIT:C27167","NCIT:C51225","SNOMEDCT:1761006","SNOMEDCT:31712002","medgen:3035","icd11.foundation:649193479","ICD10:K74.3","ICD10:K74.5","ICD9:571.6","HP:0002613"],"information_content":88.2}
{"id":"MONDO:0005391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Restless legs","equivalent_identifiers":["MONDO:0005391","DOID:0050425","EFO:0004270","UMLS:C0035258","MESH:D012148","MEDDRA:10024183","MEDDRA:10038741","MEDDRA:10038742","MEDDRA:10042841","MEDDRA:10058920","MEDDRA:10080298","MEDDRA:10083511","NCIT:C84501","SNOMEDCT:32914008","medgen:48427","icd11.foundation:1254916765","ICD10:G25.81","ICD9:333.94","HP:0012452"],"information_content":84.8}
{"id":"MONDO:0005392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scoliosis","equivalent_identifiers":["MONDO:0005392","DOID:0060249","EFO:0004273","UMLS:C0036439","UMLS:C0037932","UMLS:C0700208","UMLS:C5937607","MESH:D012600","MESH:D013121","MEDDRA:10011648","MEDDRA:10039722","MEDDRA:10045724","NCIT:C78603","SNOMEDCT:111266001","SNOMEDCT:298382003","SNOMEDCT:64217002","medgen:11348","icd11.foundation:1925604007","ICD10:M41.9","HP:0002650"],"information_content":83.1}
{"id":"MONDO:0005393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gout","equivalent_identifiers":["MONDO:0005393","DOID:13189","EFO:0004274","UMLS:C0003868","UMLS:C0018099","MESH:D006073","MESH:D015210","MEDDRA:10003257","MEDDRA:10003435","MEDDRA:10018627","MEDDRA:10018633","MEDDRA:10018634","MEDDRA:10018635","NCIT:C34650","SNOMEDCT:170733007","SNOMEDCT:190828008","SNOMEDCT:48440001","SNOMEDCT:90560007","medgen:42280","icd11.foundation:395622227","ICD10:M10","ICD9:274","ICD9:274.0","HP:0001997"],"information_content":85.5}
{"id":"MONDO:0005395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"movement disorder","equivalent_identifiers":["MONDO:0005395","DOID:480","EFO:0004280","UMLS:C0026650","MESH:D009069","MEDDRA:10013927","MEDDRA:10028035","MEDDRA:10028036","MEDDRA:10028040","NCIT:C116757","SNOMEDCT:60342002","medgen:10113","HP:0100022"],"information_content":56.9}
{"id":"MONDO:0005396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thoracic aortic aneurysm","equivalent_identifiers":["MONDO:0005396","DOID:14004","EFO:0004282","UMLS:C0162872","UMLS:C4303697","MESH:D017545","MEDDRA:10043465","NCIT:C27001","SNOMEDCT:142111000119108","SNOMEDCT:433068007","medgen:56525","icd11.foundation:1383534118","HP:0012727"],"information_content":84.2}
{"id":"MONDO:0005397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"goiter","equivalent_identifiers":["MONDO:0005397","DOID:12176","EFO:0004283","UMLS:C0018021","MESH:D006042","MEDDRA:10014841","MEDDRA:10018491","MEDDRA:10018497","MEDDRA:10018498","MEDDRA:10018502","MEDDRA:10043723","MEDDRA:10064244","MEDDRA:10078031","MEDDRA:10079779","NCIT:C26785","SNOMEDCT:3716002","medgen:42270","ICD10:E04.9","ICD9:240.9","HP:0000853"],"information_content":79.9}
{"id":"MONDO:0005401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Colon Neoplasm","equivalent_identifiers":["MONDO:0005401","EFO:0004288","UMLS:C0009375","MESH:D003110","MEDDRA:10009973","MEDDRA:10009974","MEDDRA:10009999","MEDDRA:10061045","NCIT:C2953","SNOMEDCT:126838000","medgen:3165","HP:0100273"],"information_content":65.7}
{"id":"MONDO:0005402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphoid leukemia","equivalent_identifiers":["MONDO:0005402","DOID:1037","DOID:10747","EFO:0004289","UMLS:C0023448","UMLS:C0152271","MESH:D007945","MEDDRA:10024301","MEDDRA:10024302","MEDDRA:10024304","MEDDRA:10024337","MEDDRA:10024339","MEDDRA:10024341","MEDDRA:10025230","MEDDRA:10025234","MEDDRA:10025235","MEDDRA:10025270","MEDDRA:10025271","MEDDRA:10025299","MEDDRA:10025303","MEDDRA:10025304","MEDDRA:10025307","MEDDRA:10042284","MEDDRA:10045996","MEDDRA:10045997","MEDDRA:10054647","MEDDRA:10060397","NCIT:C7539","SNOMEDCT:1172709000","SNOMEDCT:188725004","SNOMEDCT:188726003","SNOMEDCT:32280000","SNOMEDCT:33560006","medgen:9728","ICD10:C91","ICD9:204","HP:0005526"],"information_content":61.6}
{"id":"MONDO:0005406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gestational diabetes","equivalent_identifiers":["MONDO:0005406","DOID:11714","EFO:0004593","UMLS:C0085207","UMLS:C4020778","MESH:D016640","MEDDRA:10012606","MEDDRA:10018209","MEDDRA:10018210","NCIT:C34942","SNOMEDCT:11687002","medgen:38815","ICD10:O24.4","HP:0009800"],"information_content":92.8}
{"id":"MONDO:0005412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenal ulcer","equivalent_identifiers":["MONDO:0005412","DOID:1724","EFO:0004607","UMLS:C0010474","UMLS:C0013295","MESH:D004381","MEDDRA:10011646","MEDDRA:10013836","MEDDRA:10045297","NCIT:C26755","SNOMEDCT:367474008","SNOMEDCT:39755000","SNOMEDCT:51868009","medgen:41670","icd11.foundation:553678663","ICD10:K26","ICD9:532","HP:0002588"],"information_content":95.4}
{"id":"MONDO:0005416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoarthritis, knee","equivalent_identifiers":["MONDO:0005416","EFO:0004616","UMLS:C0409959","MESH:D020370","MEDDRA:10023476","MEDDRA:10029877","MEDDRA:10031158","MEDDRA:10031165","MEDDRA:10031166","medgen:98371","HP:0005086"],"information_content":100.0}
{"id":"MONDO:0005420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypothyroidism","equivalent_identifiers":["MONDO:0005420","DOID:1459","EFO:0004705","UMLS:C0020676","MESH:D007037","MEDDRA:10021114","MEDDRA:10043686","MEDDRA:10045920","MEDDRA:10077221","NCIT:C26800","SNOMEDCT:40930008","medgen:6991","icd11.foundation:1722092627","ICD9:244.9","HP:0000821"],"information_content":75.2}
{"id":"MONDO:0005434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin sensitivity to sun","equivalent_identifiers":["MONDO:0005434","EFO:0004795","UMLS:C0349506","MEDDRA:10034966","MEDDRA:10042494","NCIT:C38004","SNOMEDCT:90128006","medgen:87601","HP:0000992"],"information_content":73.7}
{"id":"MONDO:0005439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypercholesterolemia","equivalent_identifiers":["MONDO:0005439","DOID:13810","OMIM.PS:143890","EFO:0004911","UMLS:C0020445","UMLS:C0549399","MESH:D006938","MEDDRA:10017340","MEDDRA:10017341","MEDDRA:10021668","MEDDRA:10024055","MEDDRA:10024057","MEDDRA:10024059","MEDDRA:10024905","MEDDRA:10024906","MEDDRA:10024910","MEDDRA:10037821","MEDDRA:10045254","MEDDRA:10045255","MEDDRA:10045257","MEDDRA:10045258","MEDDRA:10049593","MEDDRA:10054380","MEDDRA:10060371","MEDDRA:10060594","MEDDRA:10064613","MEDDRA:10064706","NCIT:C34704","SNOMEDCT:190773008","medgen:5688","ICD10:E78.01","HP:0003141"],"information_content":88.2}
{"id":"MONDO:0005441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otitis media","equivalent_identifiers":["MONDO:0005441","DOID:10754","EFO:0004992","UMLS:C0029882","MESH:D010033","MEDDRA:10027585","MEDDRA:10033078","MEDDRA:10033084","MEDDRA:10046087","MEDDRA:10056747","MEDDRA:10065838","NCIT:C34885","SNOMEDCT:65363002","medgen:45253","icd11.foundation:1079654421","ICD10:H66.9","ICD9:382.9","HP:0000388"],"information_content":77.8}
{"id":"MONDO:0005453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital heart disease","equivalent_identifiers":["MONDO:0005453","DOID:1682","EFO:0005207","UMLS:C0018798","UMLS:C0152021","MESH:D006330","MEDDRA:10002626","MEDDRA:10010394","MEDDRA:10010495","MEDDRA:10013105","MEDDRA:10019273","MEDDRA:10019293","MEDDRA:10025528","MEDDRA:10045703","NCIT:C34666","NCIT:C95834","SNOMEDCT:13213009","medgen:57501","ICD10:Q24.9","ICD9:746.9","HP:0001627"],"information_content":54.8}
{"id":"MONDO:0005459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"human African trypanosomiasis","equivalent_identifiers":["MONDO:0005459","DOID:10112","orphanet:3385","EFO:0005225","UMLS:C0041228","MESH:D014353","MEDDRA:10001461","MEDDRA:10001462","MEDDRA:10041016","NCIT:C84541","SNOMEDCT:27031003","medgen:21714","ICD10:B56","ICD9:086.5","KEGG.DISEASE:05143"],"information_content":92.8}
{"id":"MONDO:0005463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic valve calcification","equivalent_identifiers":["MONDO:0005463","EFO:0005239","UMLS:C0428791","MESH:C562942","MEDDRA:10050559","SNOMEDCT:250978003","medgen:140899","HP:0004380"],"information_content":88.2}
{"id":"MONDO:0005464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhegmatogenous retinal detachment","equivalent_identifiers":["MONDO:0005464","EFO:0005240","UMLS:C0271055","MEDDRA:10065569","NCIT:C118755","SNOMEDCT:19620000","medgen:489829","HP:0012230"],"information_content":95.4}
{"id":"MONDO:0005468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotension","equivalent_identifiers":["MONDO:0005468","EFO:0005251","UMLS:C0020649","MESH:D007022","MEDDRA:10003146","MEDDRA:10003169","MEDDRA:10005734","MEDDRA:10005743","MEDDRA:10005744","MEDDRA:10005753","MEDDRA:10006064","MEDDRA:10006065","MEDDRA:10013644","MEDDRA:10013645","MEDDRA:10016174","MEDDRA:10021097","MEDDRA:10021099","MEDDRA:10021106","MEDDRA:10024895","MEDDRA:10024896","MEDDRA:10024982","MEDDRA:10036638","MEDDRA:10066331","NCIT:C3128","SNOMEDCT:45007003","medgen:5715","HP:0002615"],"information_content":83.6}
{"id":"MONDO:0005469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orthostatic hypotension","equivalent_identifiers":["MONDO:0005469","EFO:0005252","UMLS:C0020651","MESH:D007024","MEDDRA:10021100","MEDDRA:10021104","MEDDRA:10031127","MEDDRA:10036433","NCIT:C84970","SNOMEDCT:28651003","medgen:43803","icd11.foundation:56009591","HP:0001278"],"information_content":92.8}
{"id":"MONDO:0005475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine with aura","equivalent_identifiers":["MONDO:0005475","DOID:10024","UMLS:C0154723","UMLS:C1735856","MESH:D020325","MEDDRA:10009236","MEDDRA:10027601","MEDDRA:10027607","NCIT:C117005","SNOMEDCT:230462002","SNOMEDCT:4473006","medgen:57822","icd11.foundation:525744634","ICD10:G43.1","ICD9:346.0","HP:0002077"],"information_content":84.2}
{"id":"MONDO:0005477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular tachycardia","equivalent_identifiers":["MONDO:0005477","EFO:0005306","UMLS:C0042514","MESH:D017180","MEDDRA:10043085","MEDDRA:10047302","NCIT:C50802","SNOMEDCT:25569003","medgen:12068","icd11.foundation:1171837620","HP:0004756"],"information_content":76.0}
{"id":"MONDO:0005478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsades de pointes","equivalent_identifiers":["MONDO:0005478","EFO:0005307","UMLS:C0040479","MESH:D016171","MEDDRA:10044066","MEDDRA:10044067","MEDDRA:10053604","NCIT:C50779","SNOMEDCT:31722008","medgen:21214","HP:0001664"],"information_content":78.0}
{"id":"MONDO:0005480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"contact dermatitis","equivalent_identifiers":["MONDO:0005480","DOID:2773","EFO:0005319","UMLS:C0011616","MESH:D003877","MEDDRA:10010790","MEDDRA:10010803","MEDDRA:10012442","MEDDRA:10012492","MEDDRA:10058308","MEDDRA:10087729","NCIT:C26743","SNOMEDCT:40275004","medgen:8329","ICD10:L25.9","HP:0032282"],"information_content":84.8}
{"id":"MONDO:0005485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psychosis","equivalent_identifiers":["MONDO:0005485","DOID:2468","EFO:0005407","UMLS:C0029516","UMLS:C0033975","MESH:D011618","MEDDRA:10037234","MEDDRA:10037241","MEDDRA:10037248","MEDDRA:10037253","MEDDRA:10046122","MEDDRA:10059419","MEDDRA:10061920","NCIT:C78576","SNOMEDCT:69322001","medgen:19568","ICD9:298.8","HP:0000709"],"information_content":76.2}
{"id":"MONDO:0005486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth agenesis","equivalent_identifiers":["MONDO:0005486","DOID:0050591","OMIM.PS:106600","orphanet:99798","EFO:0005410","UMLS:C0020608","MEDDRA:10055001","MEDDRA:10055073","NCIT:C171426","SNOMEDCT:64969001","medgen:43794","icd11.foundation:1559717619","ICD10:K00.0","ICD9:520.0","HP:0000668"],"information_content":83.1}
{"id":"MONDO:0005492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urticaria","equivalent_identifiers":["MONDO:0005492","DOID:1555","EFO:0005531","UMLS:C0029839","UMLS:C0042109","UMLS:C0221232","UMLS:C1536459","MESH:D014581","MEDDRA:10020197","MEDDRA:10029220","MEDDRA:10037896","MEDDRA:10046219","MEDDRA:10046735","MEDDRA:10046736","MEDDRA:10046749","MEDDRA:10046756","MEDDRA:10046758","MEDDRA:10046760","MEDDRA:10046761","MEDDRA:10047906","MEDDRA:10047918","NCIT:C3432","NCIT:C50811","SNOMEDCT:126485001","SNOMEDCT:247472004","SNOMEDCT:64305001","medgen:22587","ICD9:708.8","HP:0001025"],"information_content":73.8}
{"id":"MONDO:0005495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal gland disorder","equivalent_identifiers":["MONDO:0005495","DOID:9553","EFO:0005539","UMLS:C0001621","UMLS:C4021794","MESH:D000307","MEDDRA:10001347","MEDDRA:10001348","MEDDRA:10001353","MEDDRA:10045767","NCIT:C26690","SNOMEDCT:30171000","medgen:892577","ICD10:E27.9","ICD9:255.9","HP:0000834"],"information_content":66.2}
{"id":"MONDO:0005498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"botulism","equivalent_identifiers":["MONDO:0005498","DOID:11976","orphanet:1267","EFO:0005542","UMLS:C0006057","MESH:D001906","MEDDRA:10006041","MEDDRA:10009656","NCIT:C84599","SNOMEDCT:398565003","medgen:14204","icd11.foundation:78422942","ICD10:A05.1"],"information_content":85.5}
{"id":"MONDO:0005502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dengue disease","equivalent_identifiers":["MONDO:0005502","DOID:12205","orphanet:99828","EFO:0005547","UMLS:C0011311","MESH:D003715","MEDDRA:10012309","MEDDRA:10012310","MEDDRA:10012312","MEDDRA:10087793","MEDDRA:10087794","NCIT:C34528","SNOMEDCT:38362002","medgen:3721","ICD10:A90","ICD9:061"],"information_content":89.4}
{"id":"MONDO:0005509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"histiocytoma","equivalent_identifiers":["MONDO:0005509","DOID:4231","EFO:0005561","UMLS:C1509147","MESH:D051642","MEDDRA:10020115","NCIT:C35765","SNOMEDCT:128741006","SNOMEDCT:302843004","medgen:267592","icd11.foundation:1211753554","HP:0012315"],"information_content":83.1}
{"id":"MONDO:0005510","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydronephrosis","equivalent_identifiers":["MONDO:0005510","DOID:11111","EFO:0005562","UMLS:C0020295","MESH:D006869","MEDDRA:10020524","NCIT:C26796","SNOMEDCT:43064006","medgen:42531","ICD10:N13.30","ICD9:591","HP:0000126"],"information_content":86.3}
{"id":"MONDO:0005512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant peritoneal mesothelioma","equivalent_identifiers":["MONDO:0005512","DOID:1788","orphanet:168811","EFO:0005567","UMLS:C0346109","UMLS:C0854886","MEDDRA:10034669","MEDDRA:10056558","NCIT:C8704","NCIT:C9350","medgen:83406","ICD10:C45.1"],"information_content":84.2}
{"id":"MONDO:0005514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nanophthalmia","equivalent_identifiers":["MONDO:0005514","DOID:0080634","OMIM.PS:600165","orphanet:35612","UMLS:C4274282","SNOMEDCT:716775009","medgen:901455"],"information_content":89.4}
{"id":"MONDO:0005516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteochondrodysplasia","equivalent_identifiers":["MONDO:0005516","DOID:2256","EFO:0005571","UMLS:C0029422","UMLS:C4280567","MESH:D010009","NCIT:C84978","SNOMEDCT:105985007","SNOMEDCT:240190009","medgen:10495","ICD10:Q78.9","ICD9:756.4","HP:0002652"],"information_content":63.0}
{"id":"MONDO:0005520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rickets","equivalent_identifiers":["MONDO:0005520","DOID:10609","EFO:0005583","UMLS:C0035579","MESH:D012279","MEDDRA:10039119","MEDDRA:10039123","MEDDRA:10079817","NCIT:C26878","SNOMEDCT:41345002","medgen:48470","HP:0002748"],"information_content":78.8}
{"id":"MONDO:0005526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetanus","equivalent_identifiers":["MONDO:0005526","DOID:11338","orphanet:3299","EFO:0005593","UMLS:C0039614","MESH:D013742","MEDDRA:10009663","MEDDRA:10043376","NCIT:C85185","SNOMEDCT:276202003","SNOMEDCT:76902006","medgen:21489","icd11.foundation:1793762788","ICD10:A35","ICD9:037"],"information_content":95.4}
{"id":"MONDO:0005536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancolitis","equivalent_identifiers":["MONDO:0005536","EFO:0005626","UMLS:C0868908","MEDDRA:10033573","medgen:1720692","HP:0033256"],"information_content":100.0}
{"id":"MONDO:0005541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylolysis","equivalent_identifiers":["MONDO:0005541","DOID:2300","EFO:0005649","UMLS:C0038018","MESH:D013169","MEDDRA:10052013","MEDDRA:10087756","NCIT:C35034","SNOMEDCT:240221008","medgen:21294","icd11.foundation:790009325","ICD10:M43.0","HP:0003304"],"information_content":92.8}
{"id":"MONDO:0005543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune hepatitis type 1","equivalent_identifiers":["MONDO:0005543","orphanet:563576","UMLS:C0520463","UMLS:C4303164","MEDDRA:10008827","MEDDRA:10019755","NCIT:C176731","SNOMEDCT:197284004","SNOMEDCT:721711009","medgen:928833","icd11.foundation:260422751","HP:0200120"],"information_content":100.0}
{"id":"MONDO:0005556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lupus nephritis","equivalent_identifiers":["MONDO:0005556","DOID:0080162","EFO:0005761","UMLS:C0024143","MESH:D008181","MEDDRA:10025140","MEDDRA:10029141","MEDDRA:10029142","MEDDRA:10040970","MEDDRA:10089276","NCIT:C34789","SNOMEDCT:68815009","medgen:6147","icd11.foundation:1815692673","HP:0033726"],"information_content":84.2}
{"id":"MONDO:0005558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian disease","equivalent_identifiers":["MONDO:0005558","DOID:1100","EFO:0005771","UMLS:C0029928","UMLS:C4021818","MESH:D010049","MEDDRA:10013249","MEDDRA:10033139","MEDDRA:10033140","NCIT:C26841","SNOMEDCT:5552004","medgen:892314","HP:0000137"],"information_content":57.8}
{"id":"MONDO:0005559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegenerative disease","equivalent_identifiers":["MONDO:0005559","DOID:1289","EFO:0005772","UMLS:C0027746","UMLS:C0270715","UMLS:C0524851","UMLS:C1285162","UMLS:C4020854","MESH:D009410","MESH:D019636","MEDDRA:10053643","MEDDRA:10056677","NCIT:C195952","NCIT:C27090","NCIT:C4802","SNOMEDCT:362975008","SNOMEDCT:80690008","medgen:17999","ICD10:G31.9","HP:0002180"],"information_content":54.9}
{"id":"MONDO:0005560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain disorder","equivalent_identifiers":["MONDO:0005560","DOID:936","EFO:0005774","UMLS:C0006111","UMLS:C0085584","MESH:D001927","MEDDRA:10006120","MEDDRA:10014623","MEDDRA:10014625","MEDDRA:10014636","MEDDRA:10014641","NCIT:C26920","NCIT:C96413","SNOMEDCT:81308009","medgen:14214","ICD10:G93.40","ICD10:G93.9","ICD9:348.30","ICD9:348.9","HP:0001298"],"information_content":50.1}
{"id":"MONDO:0005563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NUT Carcinoma","equivalent_identifiers":["MONDO:0005563","DOID:0060463","orphanet:443167","EFO:0005783","UMLS:C1707291","UMLS:CN237663","MEDDRA:10078295","NCIT:C45716","SNOMEDCT:1187622004","SNOMEDCT:733922002","medgen:312999"],"information_content":80.6}
{"id":"MONDO:0005564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"embryonal neoplasm","equivalent_identifiers":["MONDO:0005564","DOID:688","EFO:0005784","UMLS:C0027654","NCIT:C3264","medgen:45034","HP:0002898"],"information_content":58.7}
{"id":"MONDO:0005570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hematologic disorder","equivalent_identifiers":["MONDO:0005570","DOID:74","orphanet:97992","EFO:0005803","UMLS:C0018939","UMLS:C0850715","UMLS:C1533163","UMLS:C4020864","MESH:D006402","MEDDRA:10005493","MEDDRA:10005495","MEDDRA:10005496","MEDDRA:10013895","MEDDRA:10018847","MEDDRA:10061590","NCIT:C26323","SNOMEDCT:191124002","SNOMEDCT:34093004","SNOMEDCT:414022008","medgen:5483","ICD10:D75.9","ICD9:289.9","HP:0001871"],"information_content":44.6}
{"id":"MONDO:0005571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycythemia","equivalent_identifiers":["MONDO:0005571","DOID:8432","orphanet:98427","EFO:0005804","UMLS:C0032461","UMLS:C1527405","UMLS:C1868945","MESH:D011086","MEDDRA:10015276","MEDDRA:10036051","MEDDRA:10036055","MEDDRA:10036058","MEDDRA:10067083","NCIT:C113711","NCIT:C26863","SNOMEDCT:109992005","SNOMEDCT:127062003","medgen:18552","HP:0001901"],"information_content":79.9}
{"id":"MONDO:0005575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colorectal cancer","equivalent_identifiers":["MONDO:0005575","DOID:5672","DOID:9256","OMIM:114500","UMLS:C0346629","MEDDRA:10010023","MEDDRA:10025615","NCIT:C4978","SNOMEDCT:363510005","medgen:83428","ICD10:C18.9","KEGG.DISEASE:05210"],"information_content":59.5}
{"id":"MONDO:0005576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryoglobulinemia","equivalent_identifiers":["MONDO:0005576","DOID:2917","EFO:0005846","UMLS:C0010403","MESH:D003449","MEDDRA:10011474","MEDDRA:10011475","NCIT:C26736","SNOMEDCT:30911005","medgen:3673","ICD10:D89.1","HP:0100778"],"information_content":92.8}
{"id":"MONDO:0005578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthritis","equivalent_identifiers":["MONDO:0005578","DOID:848","EFO:0005856","UMLS:C0003864","UMLS:C0574941","MESH:D001168","MEDDRA:10003246","MEDDRA:10003263","MEDDRA:10023217","MEDDRA:10081014","NCIT:C2883","SNOMEDCT:298160000","SNOMEDCT:3723001","medgen:2043","ICD10:M19.90","HP:0001369"],"information_content":70.4}
{"id":"MONDO:0005579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic generalized epilepsy","equivalent_identifiers":["MONDO:0005579","DOID:1827","OMIM:600669","OMIM.PS:600669","EFO:0005917","UMLS:C0270850","UMLS:C2748800","MESH:C562694","MEDDRA:10071081","MEDDRA:10071096","SNOMEDCT:19598007","medgen:75725"],"information_content":76.0}
{"id":"MONDO:0005580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal squamous cell carcinoma","equivalent_identifiers":["MONDO:0005580","DOID:3748","orphanet:99977","EFO:0005922","UMLS:C0279626","MESH:C562729","MESH:D000077277","MEDDRA:10015382","MEDDRA:10015431","MEDDRA:10030170","MEDDRA:10030186","MEDDRA:10041824","MEDDRA:10041825","MEDDRA:10055476","MEDDRA:10056065","MEDDRA:10056104","MEDDRA:10061534","NCIT:C4024","SNOMEDCT:276804009","medgen:124635","icd11.foundation:1417891145"],"information_content":72.1}
{"id":"MONDO:0005582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"binge eating","equivalent_identifiers":["MONDO:0005582","EFO:0005924","UMLS:C0006370","UMLS:C0596170","MESH:D002032","MESH:D056912","MEDDRA:10004716","MEDDRA:10006549","NCIT:C97162","SNOMEDCT:439960005","medgen:154543","icd11.foundation:1673294767","HP:0100739"],"information_content":100.0}
{"id":"MONDO:0005584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital left-sided heart lesions","equivalent_identifiers":["MONDO:0005584","EFO:0005938","UMLS:C4022397","medgen:868006","HP:0045017"],"information_content":89.4}
{"id":"MONDO:0005586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"head and neck neoplasm","equivalent_identifiers":["MONDO:0005586","EFO:0005950","UMLS:C0018671","MESH:D006258","NCIT:C3077","SNOMEDCT:255055008","SNOMEDCT:255056009","medgen:6728","HP:0012288"],"information_content":49.7}
{"id":"MONDO:0005594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cicatrization","equivalent_identifiers":["MONDO:0005594","EFO:0006346","UMLS:C0008767","UMLS:C0241158","UMLS:C2004491","UMLS:C5554042","MESH:D002921","MEDDRA:10009178","MEDDRA:10039580","MEDDRA:10039589","MEDDRA:10070845","MEDDRA:10085778","NCIT:C34483","NCIT:C50737","SNOMEDCT:12402003","SNOMEDCT:275322007","SNOMEDCT:48677004","SNOMEDCT:70582006","medgen:1843455","HP:0100699"],"information_content":82.1}
{"id":"MONDO:0005595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal squamous cell carcinoma","equivalent_identifiers":["MONDO:0005595","DOID:2876","orphanet:494550","EFO:0006352","UMLS:C0280324","MEDDRA:10023856","NCIT:C4044","SNOMEDCT:405822008","SNOMEDCT:707358000","medgen:83630"],"information_content":75.0}
{"id":"MONDO:0005602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian teratoma","equivalent_identifiers":["MONDO:0005602","DOID:5567","EFO:0006463","UMLS:C0280131","MEDDRA:10073265","NCIT:C8110","SNOMEDCT:716077006","medgen:76072","icd11.foundation:1752240825","HP:0012226"],"information_content":75.0}
{"id":"MONDO:0005607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic bronchitis","equivalent_identifiers":["MONDO:0005607","EFO:0006505","UMLS:C0008677","MESH:D029481","MEDDRA:10006458","MEDDRA:10006459","MEDDRA:10008841","MEDDRA:10008843","MEDDRA:10045659","NCIT:C26722","SNOMEDCT:63480004","medgen:3084","icd11.foundation:290835130","HP:0004469"],"information_content":100.0}
{"id":"MONDO:0005619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"typhoid fever","equivalent_identifiers":["MONDO:0005619","DOID:13258","orphanet:99745","EFO:0006789","UMLS:C0041466","MESH:D014435","MEDDRA:10014862","MEDDRA:10039446","MEDDRA:10045272","MEDDRA:10045275","NCIT:C35089","SNOMEDCT:4834000","medgen:11973","icd11.foundation:1528414070","ICD10:A01.0","ICD9:002.0"],"information_content":100.0}
{"id":"MONDO:0005620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral amyloid angiopathy","equivalent_identifiers":["MONDO:0005620","DOID:9246","orphanet:85458","EFO:0006790","UMLS:C0085220","UMLS:C1510489","UMLS:C1956349","MESH:D016657","MEDDRA:10068044","MEDDRA:10082093","NCIT:C84625","SNOMEDCT:230724001","SNOMEDCT:724357007","medgen:267610","HP:0011970"],"information_content":84.2}
{"id":"MONDO:0005629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acanthamoeba keratitis","equivalent_identifiers":["MONDO:0005629","orphanet:67043","EFO:0007126","UMLS:C0000880","MESH:D015823","MEDDRA:10069408","MEDDRA:10074137","NCIT:C50450","SNOMEDCT:231896005","medgen:1268","icd11.foundation:49744193"],"information_content":100.0}
{"id":"MONDO:0005638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agnosia","equivalent_identifiers":["MONDO:0005638","DOID:4090","EFO:0007136","UMLS:C0001816","UMLS:C0150075","MESH:D000377","MEDDRA:10048663","NCIT:C84542","SNOMEDCT:130985008","SNOMEDCT:42341009","medgen:174","icd11.foundation:1315065296","ICD10:R48.1","HP:0010524"],"information_content":75.0}
{"id":"MONDO:0005640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"akinetic mutism","equivalent_identifiers":["MONDO:0005640","DOID:4267","EFO:0007138","UMLS:C0001889","MESH:D000405","MEDDRA:10001542","MEDDRA:10063030","SNOMEDCT:53333005","medgen:7942","icd11.foundation:1448580674","HP:0012672"],"information_content":100.0}
{"id":"MONDO:0005642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atopic conjunctivitis","equivalent_identifiers":["MONDO:0005642","DOID:11204","EFO:0007141","UMLS:C0009766","MESH:D003233","MEDDRA:10001709","MEDDRA:10010744","MEDDRA:10080573","NCIT:C34506","SNOMEDCT:231854006","SNOMEDCT:473460002","medgen:3590","HP:0007879"],"information_content":95.4}
{"id":"MONDO:0005647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Genital warts","equivalent_identifiers":["MONDO:0005647","DOID:11168","EFO:0007147","UMLS:C0009663","UMLS:C0554632","MESH:D003218","MEDDRA:10010291","MEDDRA:10010295","MEDDRA:10018182","MEDDRA:10047202","MEDDRA:10048423","MEDDRA:10059313","NCIT:C2960","NCIT:C4820","SNOMEDCT:240542006","SNOMEDCT:266113007","SNOMEDCT:302812006","medgen:108217","ICD10:A63.0","ICD9:078.11","HP:0032301"],"information_content":85.5}
{"id":"MONDO:0005648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic valve insufficiency","equivalent_identifiers":["MONDO:0005648","DOID:57","EFO:0007148","UMLS:C0003504","UMLS:C0155568","MESH:D001022","MEDDRA:10002898","MEDDRA:10002904","MEDDRA:10002915","MEDDRA:10039045","MEDDRA:10039046","MEDDRA:10052839","NCIT:C197951","NCIT:C50861","NCIT:C51223","SNOMEDCT:60234000","SNOMEDCT:78031003","medgen:8153","icd11.foundation:1548485475","ICD10:I06.1","ICD9:395.1","HP:0001659"],"information_content":92.8}
{"id":"MONDO:0005657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aspergillosis","equivalent_identifiers":["MONDO:0005657","DOID:13564","orphanet:1163","EFO:0007157","UMLS:C0004030","MESH:D001228","MEDDRA:10003486","MEDDRA:10003488","MEDDRA:10051356","MEDDRA:10051619","MEDDRA:10074171","NCIT:C2886","SNOMEDCT:65553006","medgen:13939","icd11.foundation:1913468488","ICD10:B44","ICD9:117.3"],"information_content":86.3}
{"id":"MONDO:0005661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"babesiosis","equivalent_identifiers":["MONDO:0005661","DOID:9643","orphanet:108","EFO:0007162","UMLS:C0004576","UMLS:C0276852","MESH:D001404","MEDDRA:10003964","MEDDRA:10003965","NCIT:C84581","SNOMEDCT:21061004","medgen:2523","icd11.foundation:1947003329","ICD10:B60.0","ICD9:088.82"],"information_content":100.0}
{"id":"MONDO:0005665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bell's palsy","equivalent_identifiers":["MONDO:0005665","DOID:12506","EFO:0007167","UMLS:C0376175","UMLS:C1858719","MESH:D020330","MEDDRA:10004223","MEDDRA:10033559","MEDDRA:10080910","NCIT:C26769","SNOMEDCT:193093009","medgen:87660","ICD10:G51.0","ICD9:351.0","HP:0010628"],"information_content":87.2}
{"id":"MONDO:0005674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone giant cell tumor","equivalent_identifiers":["MONDO:0005674","DOID:4305","orphanet:363976","EFO:0007176","UMLS:C0206638","MESH:D018212","MEDDRA:10004239","MEDDRA:10005968","MEDDRA:10005969","MEDDRA:10005970","MEDDRA:10062381","MEDDRA:10062385","MEDDRA:10088487","NCIT:C121932","SNOMEDCT:57500000","SNOMEDCT:697970009","medgen:64624","HP:0011847"],"information_content":90.9}
{"id":"MONDO:0005683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brucellosis","equivalent_identifiers":["MONDO:0005683","DOID:11077","orphanet:1304","EFO:0007185","UMLS:C0006309","MESH:D002006","MEDDRA:10006495","MEDDRA:10006500","MEDDRA:10026726","MEDDRA:10027094","MEDDRA:10045517","MEDDRA:10045646","NCIT:C84602","SNOMEDCT:75702008","medgen:674","icd11.foundation:730510331","ICD10:A23","ICD9:023"],"information_content":89.4}
{"id":"MONDO:0005692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cat-scratch disease","equivalent_identifiers":["MONDO:0005692","DOID:11258","orphanet:50839","EFO:0007195","UMLS:C0007361","MESH:D002372","MEDDRA:10007729","MEDDRA:10007730","MEDDRA:10007731","NCIT:C84620","SNOMEDCT:79974007","medgen:2861","icd11.foundation:2003001085","ICD10:A28.1","ICD9:078.3"],"information_content":100.0}
{"id":"MONDO:0005698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical incompetence","equivalent_identifiers":["MONDO:0005698","DOID:9681","EFO:0007202","UMLS:C0007871","MESH:D002581","MEDDRA:10008267","MEDDRA:10021631","MEDDRA:10021632","NCIT:C50607","SNOMEDCT:17382005","medgen:2972","ICD10:N88.3","ICD9:622.5","HP:0030009"],"information_content":100.0}
{"id":"MONDO:0005706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coccidioidomycosis","equivalent_identifiers":["MONDO:0005706","DOID:13450","orphanet:228123","EFO:0007211","UMLS:C0009186","UMLS:C0700644","MESH:D003047","MEDDRA:10009822","MEDDRA:10009824","MEDDRA:10009825","MEDDRA:10009826","MEDDRA:10036691","MEDDRA:10067094","MEDDRA:10081374","NCIT:C84642","SNOMEDCT:23247008","SNOMEDCT:60826002","medgen:3137","icd11.foundation:132287989","ICD10:B38","ICD9:114","HP:0032249"],"information_content":100.0}
{"id":"MONDO:0005711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital diaphragmatic hernia","equivalent_identifiers":["MONDO:0005711","DOID:3827","OMIM.PS:142340","orphanet:2140","EFO:0007216","EFO:0008561","UMLS:C0019284","UMLS:C0235833","UMLS:C0700510","MESH:D006548","MESH:D065630","MEDDRA:10010439","MEDDRA:10012713","MEDDRA:10012714","MEDDRA:10012715","MEDDRA:10012717","MEDDRA:10012720","MEDDRA:10012723","NCIT:C34687","NCIT:C98893","SNOMEDCT:17190001","SNOMEDCT:196903009","SNOMEDCT:39839004","medgen:68625","icd11.foundation:1414428936","HP:0000776","MP:0003924"],"information_content":74.9}
{"id":"MONDO:0005712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital nystagmus","equivalent_identifiers":["MONDO:0005712","DOID:9649","OMIM.PS:310700","EFO:0007217","UMLS:C0700501","MESH:D020417","MEDDRA:10010562","MEDDRA:10029867","SNOMEDCT:64635004","medgen:195995","icd11.foundation:1626567380","ICD10:H55.01","ICD9:379.51","HP:0006934"],"information_content":84.2}
{"id":"MONDO:0005714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital syphilis","equivalent_identifiers":["MONDO:0005714","DOID:9856","orphanet:499009","EFO:0007219","UMLS:C0039131","MESH:D013590","MEDDRA:10010641","MEDDRA:10010642","MEDDRA:10010655","MEDDRA:10045710","NCIT:C84649","SNOMEDCT:35742006","medgen:52622","icd11.foundation:587996426","ICD10:A50","ICD9:090"],"information_content":92.8}
{"id":"MONDO:0005715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital toxoplasmosis","equivalent_identifiers":["MONDO:0005715","DOID:13336","orphanet:858","EFO:0007220","UMLS:C0040560","MESH:D014125","MEDDRA:10010652","NCIT:C50503","SNOMEDCT:73893000","medgen:52799","icd11.foundation:1194018225","ICD10:P37.1"],"information_content":100.0}
{"id":"MONDO:0005723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cryptococcal meningitis","equivalent_identifiers":["MONDO:0005723","DOID:0080159","EFO:0007228","UMLS:C0085436","MESH:D016919","MEDDRA:10011487","MEDDRA:10011488","MEDDRA:10027209","MEDDRA:10027257","NCIT:C174113","SNOMEDCT:14232007","medgen:88410","HP:0032160"],"information_content":100.0}
{"id":"MONDO:0005724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptococcosis","equivalent_identifiers":["MONDO:0005724","DOID:12053","orphanet:1546","EFO:0007229","UMLS:C0010414","UMLS:C5235087","MESH:D003453","MEDDRA:10006837","MEDDRA:10011490","MEDDRA:10011491","MEDDRA:10011493","MEDDRA:10044079","NCIT:C2967","SNOMEDCT:42386007","medgen:8189","icd11.foundation:390527954","ICD10:B45","ICD9:117.5"],"information_content":89.4}
{"id":"MONDO:0005737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ebola hemorrhagic fever","equivalent_identifiers":["MONDO:0005737","DOID:4325","orphanet:319218","EFO:0007243","UMLS:C0282687","MESH:D019142","MEDDRA:10014071","MEDDRA:10014072","MEDDRA:10014074","MEDDRA:10055245","NCIT:C36171","SNOMEDCT:37109004","medgen:129219","icd11.foundation:792755706","ICD10:A98.4"],"information_content":100.0}
{"id":"MONDO:0005758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eunuchism","equivalent_identifiers":["MONDO:0005758","DOID:5003","EFO:0007266","UMLS:C0238117","UMLS:C1384582","MESH:D005058","MEDDRA:10036734","MEDDRA:10043318","NCIT:C131195","SNOMEDCT:267403002","SNOMEDCT:370997001","medgen:65949","HP:0008720"],"information_content":100.0}
{"id":"MONDO:0005761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"filarial elephantiasis","equivalent_identifiers":["MONDO:0005761","DOID:12211","orphanet:2035","EFO:0007272","UMLS:C0013884","UMLS:C0155217","MESH:D004605","MEDDRA:10014473","MEDDRA:10016675","MEDDRA:10025229","NCIT:C128360","SNOMEDCT:14100003","SNOMEDCT:240820001","medgen:8583","icd11.foundation:247221550"],"information_content":100.0}
{"id":"MONDO:0005771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"geographic tongue","equivalent_identifiers":["MONDO:0005771","DOID:1455","EFO:0007283","UMLS:C0017677","MESH:D005929","MEDDRA:10018201","MEDDRA:10024519","MEDDRA:10043957","MEDDRA:10079071","NCIT:C84588","SNOMEDCT:59032001","medgen:6619","icd11.foundation:1460387786","ICD10:K14.1","ICD9:529.1","HP:0025252"],"information_content":100.0}
{"id":"MONDO:0005789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatitis D","equivalent_identifiers":["MONDO:0005789","DOID:2047","orphanet:402823","EFO:0007304","UMLS:C0011226","MESH:D003699","MEDDRA:10019762","MEDDRA:10019763","SNOMEDCT:707341005","medgen:4182"],"information_content":100.0}
{"id":"MONDO:0005797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HIV wasting syndrome","equivalent_identifiers":["MONDO:0005797","orphanet:90081","EFO:0007312","UMLS:C0343755","MESH:D019247","MEDDRA:10050309","SNOMEDCT:1260096003","medgen:87476"],"information_content":100.0}
{"id":"MONDO:0005803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinemic hypoglycemia","equivalent_identifiers":["MONDO:0005803","DOID:13317","OMIM.PS:256450","orphanet:443095","EFO:0007318","UMLS:C1864903","MEDDRA:10077216","MEDDRA:10077227","SNOMEDCT:42681006","medgen:351247","ICD10:E16.9","HP:0000825"],"information_content":78.3}
{"id":"MONDO:0005804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperprolactinemia","equivalent_identifiers":["MONDO:0005804","EFO:0007319","UMLS:C0020514","UMLS:C5200994","MESH:D006966","MEDDRA:10020737","MEDDRA:10020739","NCIT:C113168","SNOMEDCT:237662005","medgen:5698","HP:0000870"],"information_content":86.3}
{"id":"MONDO:0005815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0005815","DOID:1799","orphanet:506052","EFO:0007331","UMLS:C0022134","UMLS:C0242363","UMLS:C0496784","UMLS:C5848398","UMLS:C5848399","MESH:D007516","NCIT:C194093","NCIT:C27031","NCIT:C65184","SNOMEDCT:126864006","SNOMEDCT:128878003","SNOMEDCT:1290080008","SNOMEDCT:237596009","SNOMEDCT:254611009","SNOMEDCT:399528006","SNOMEDCT:76345009","medgen:1848937","icd11.foundation:1421495979","ICD10:D13.7","HP:0030405"],"information_content":72.4}
{"id":"MONDO:0005820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lassa fever","equivalent_identifiers":["MONDO:0005820","DOID:9537","orphanet:99824","EFO:0007338","UMLS:C0023092","MESH:D007835","MEDDRA:10023927","NCIT:C128418","SNOMEDCT:19065005","medgen:7276","icd11.foundation:515020316","ICD10:A96.2"],"information_content":100.0}
{"id":"MONDO:0005823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"legionellosis","equivalent_identifiers":["MONDO:0005823","DOID:10458","orphanet:549","orphanet:600832","EFO:0007342","UMLS:C0023240","MESH:D007876","MEDDRA:10024179","MEDDRA:10050919","MEDDRA:10061266","NCIT:C128334","SNOMEDCT:26726000","medgen:7292","icd11.foundation:390042715","icd11.foundation:424434722"],"information_content":90.9}
{"id":"MONDO:0005825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leptospirosis","equivalent_identifiers":["MONDO:0005825","DOID:2297","orphanet:509","EFO:0007344","UMLS:C0023364","UMLS:C0686708","MESH:D007922","MEDDRA:10024234","MEDDRA:10024238","MEDDRA:10024241","NCIT:C84825","SNOMEDCT:77377001","SNOMEDCT:93465000","medgen:7309","icd11.foundation:751399056","ICD10:A27","ICD10:A27.0","ICD9:100","ICD9:100.0"],"information_content":95.4}
{"id":"MONDO:0005826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipid pneumonia","equivalent_identifiers":["MONDO:0005826","DOID:3241","EFO:0007345","UMLS:C0032298","MESH:D011017","MEDDRA:10024583","MEDDRA:10024611","MEDDRA:10035719","MEDDRA:10035720","SNOMEDCT:416916004","SNOMEDCT:707449006","medgen:19362","ICD10:J69.1","HP:0033364"],"information_content":92.8}
{"id":"MONDO:0005828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"listeriosis","equivalent_identifiers":["MONDO:0005828","DOID:11573","orphanet:533","EFO:0007347","UMLS:C0023860","UMLS:C5886852","MESH:D008088","MEDDRA:10024638","MEDDRA:10024639","MEDDRA:10024640","MEDDRA:10024641","NCIT:C82994","SNOMEDCT:4241002","SNOMEDCT:721739005","medgen:9788","icd11.foundation:419706488","ICD10:A32","ICD9:027.0"],"information_content":89.4}
{"id":"MONDO:0005833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lymphadenopathy","equivalent_identifiers":["MONDO:0005833","DOID:75","EFO:0007352","UMLS:C0920348","UMLS:C4021976","MESH:D008206","MEDDRA:10025231","NCIT:C50764","SNOMEDCT:234087005","SNOMEDCT:3305006","SNOMEDCT:362971004","medgen:892707","HP:0100763"],"information_content":56.9}
{"id":"MONDO:0005844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chalazion","equivalent_identifiers":["MONDO:0005844","DOID:9903","EFO:0007363","UMLS:C0007933","MESH:D017043","MEDDRA:10008388","MEDDRA:10027134","NCIT:C26717","SNOMEDCT:1482004","medgen:869","icd11.foundation:777918741","ICD10:H00.1","ICD9:373.2","HP:0010605"],"information_content":100.0}
{"id":"MONDO:0005846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microsporidiosis","equivalent_identifiers":["MONDO:0005846","DOID:4271","orphanet:2552","EFO:0007366","UMLS:C0085407","MESH:D016881","MEDDRA:10053982","NCIT:C84891","SNOMEDCT:65883009","SNOMEDCT:699676006","medgen:39278","icd11.foundation:1021483422","ICD10:B60.8"],"information_content":95.4}
{"id":"MONDO:0005851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Miller Fisher syndrome","equivalent_identifiers":["MONDO:0005851","DOID:12889","orphanet:98919","EFO:0007371","UMLS:C0393799","MESH:D019846","MEDDRA:10049567","MEDDRA:10076684","NCIT:C116958","SNOMEDCT:1767005","medgen:95994","icd11.foundation:134795253"],"information_content":100.0}
{"id":"MONDO:0005852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mitral stenosis","equivalent_identifiers":["MONDO:0005852","DOID:1754","EFO:0007372","UMLS:C0026269","MESH:D008946","MEDDRA:10027719","MEDDRA:10027733","NCIT:C50654","SNOMEDCT:79619009","medgen:44466","icd11.foundation:2115139779","HP:0001718"],"information_content":88.2}
{"id":"MONDO:0005854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed connective tissue disease","equivalent_identifiers":["MONDO:0005854","DOID:3492","orphanet:809","EFO:0007374","UMLS:C0026272","MESH:D008947","MEDDRA:10026975","MEDDRA:10027754","MEDDRA:10049231","NCIT:C84892","SNOMEDCT:398021003","SNOMEDCT:398049005","medgen:10069","icd11.foundation:891652224","ICD10:M35.1"],"information_content":100.0}
{"id":"MONDO:0005855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"molluscum contagiosum","equivalent_identifiers":["MONDO:0005855","DOID:8867","EFO:0007375","UMLS:C0026393","MESH:D008976","MEDDRA:10027807","MEDDRA:10027808","MEDDRA:10027809","MEDDRA:10027810","NCIT:C155872","SNOMEDCT:40070004","medgen:10081","icd11.foundation:82201615","ICD10:B08.1","ICD9:078.0","HP:0032163"],"information_content":95.4}
{"id":"MONDO:0005881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligohydramnios","equivalent_identifiers":["MONDO:0005881","DOID:12215","EFO:0007401","UMLS:C0079924","UMLS:C0740948","UMLS:C3550658","MESH:D016104","MEDDRA:10030289","MEDDRA:10075866","MEDDRA:10075869","NCIT:C92839","SNOMEDCT:59566000","medgen:86974","icd11.foundation:262953341","ICD10:O41.0","ICD9:658.0","HP:0001562"],"information_content":95.4}
{"id":"MONDO:0005885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic neuritis","equivalent_identifiers":["MONDO:0005885","DOID:1210","EFO:0007405","UMLS:C0029134","MESH:D009902","MEDDRA:10029247","MEDDRA:10030942","MEDDRA:10030944","MEDDRA:10030946","NCIT:C84950","SNOMEDCT:66760008","medgen:18181","icd11.foundation:210935787","ICD10:H46","ICD9:377.3","HP:0100653"],"information_content":86.3}
{"id":"MONDO:0005892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glue ear","equivalent_identifiers":["MONDO:0005892","EFO:0007415","UMLS:C0029883","UMLS:C0456498","UMLS:C1455742","UMLS:C2242816","MESH:D010034","MEDDRA:10009008","MEDDRA:10018447","MEDDRA:10039895","MEDDRA:10040113","MEDDRA:10048763","MEDDRA:10062545","MEDDRA:10081109","MEDDRA:10081113","MEDDRA:10090954","NCIT:C34886","SNOMEDCT:1004115000","SNOMEDCT:78868004","medgen:629314","HP:0040262"],"information_content":100.0}
{"id":"MONDO:0005898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paronychia","equivalent_identifiers":["MONDO:0005898","DOID:13117","EFO:0007421","UMLS:C0030578","MESH:D010304","MEDDRA:10034016","MEDDRA:10064088","NCIT:C79702","SNOMEDCT:71906005","medgen:45334","ICD10:L03.0","HP:0001818"],"information_content":95.4}
{"id":"MONDO:0005900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parotitis","equivalent_identifiers":["MONDO:0005900","DOID:10301","EFO:0007423","UMLS:C0030583","MESH:D010309","MEDDRA:10034037","MEDDRA:10034038","NCIT:C114281","SNOMEDCT:14756005","medgen:45335","ICD10:K11.2","HP:0011850"],"information_content":95.4}
{"id":"MONDO:0005904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pericarditis","equivalent_identifiers":["MONDO:0005904","DOID:1787","EFO:0007427","UMLS:C0031046","MESH:D010493","MEDDRA:10034484","MEDDRA:10034495","NCIT:C34915","SNOMEDCT:3238004","medgen:18377","icd11.foundation:1296696944","HP:0001701"],"information_content":84.2}
{"id":"MONDO:0005918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Placenta Previa","equivalent_identifiers":["MONDO:0005918","DOID:11060","EFO:0007442","UMLS:C0032046","MESH:D010923","MEDDRA:10035119","MEDDRA:10074685","NCIT:C26858","SNOMEDCT:36813001","medgen:10782","ICD10:O44","HP:0430070"],"information_content":95.4}
{"id":"MONDO:0005919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"placental insufficiency","equivalent_identifiers":["MONDO:0005919","DOID:3891","orphanet:439167","EFO:0007443","UMLS:C0032051","MESH:D010927","MEDDRA:10035138","SNOMEDCT:237292005","medgen:45942"],"information_content":100.0}
{"id":"MONDO:0005933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary blastoma","equivalent_identifiers":["MONDO:0005933","DOID:4765","orphanet:64741","EFO:0007458","UMLS:C0206629","UMLS:C1266144","MESH:D018202","MEDDRA:10080682","NCIT:C3732","SNOMEDCT:128763002","SNOMEDCT:189815007","SNOMEDCT:43149009","SNOMEDCT:707670009","medgen:61645","HP:0100528"],"information_content":86.3}
{"id":"MONDO:0005936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recurrent pneumonia","equivalent_identifiers":["MONDO:0005936","EFO:0007461","UMLS:C0694550","UMLS:C0748140","UMLS:C0876973","UMLS:C1859117","MEDDRA:10048847","MEDDRA:10061229","MEDDRA:10066727","NCIT:C26873","SNOMEDCT:128601007","SNOMEDCT:699014000","medgen:195802","HP:0006532"],"information_content":78.5}
{"id":"MONDO:0005961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sinusitis","equivalent_identifiers":["MONDO:0005961","DOID:0050127","EFO:0007486","UMLS:C0037199","MESH:D012852","MEDDRA:10040745","MEDDRA:10040753","MEDDRA:10040756","MEDDRA:10078707","NCIT:C35024","SNOMEDCT:36971009","medgen:20772","ICD10:J01","ICD9:461","HP:0000246"],"information_content":82.6}
{"id":"MONDO:0005965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal stenosis","equivalent_identifiers":["MONDO:0005965","DOID:6725","EFO:0007490","UMLS:C0037944","UMLS:C0158280","UMLS:C1861329","MESH:D013130","MEDDRA:10008313","MEDDRA:10041593","MEDDRA:10041594","MEDDRA:10041596","MEDDRA:10082214","MEDDRA:10082216","NCIT:C177444","SNOMEDCT:76107001","SNOMEDCT:83561009","medgen:396107","icd11.foundation:1847895828","ICD10:M48.0","ICD10:M48.02","ICD10:M48.061","ICD9:723.0","ICD9:724.00","HP:0003416"],"information_content":90.9}
{"id":"MONDO:0005979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thoracic outlet syndrome","equivalent_identifiers":["MONDO:0005979","DOID:3103","orphanet:97330","EFO:0007507","UMLS:C0039984","MESH:D013901","MEDDRA:10048627","NCIT:C85188","SNOMEDCT:128210009","medgen:21158","icd11.foundation:909280105","ICD10:G54.0"],"information_content":90.9}
{"id":"MONDO:0005997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tricuspid valve stenosis","equivalent_identifiers":["MONDO:0005997","DOID:4078","EFO:0007525","UMLS:C0040963","MESH:D014264","MEDDRA:10044636","MEDDRA:10044642","NCIT:C50783","SNOMEDCT:49915006","medgen:21678","icd11.foundation:442626161","HP:0010446"],"information_content":92.8}
{"id":"MONDO:0006007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vesicoureteral reflux","equivalent_identifiers":["MONDO:0006007","DOID:9620","EFO:0007536","UMLS:C0042580","MESH:D014718","MEDDRA:10046408","MEDDRA:10047370","MEDDRA:10047371","NCIT:C84467","SNOMEDCT:197811007","medgen:21852","icd11.foundation:2142055506","ICD10:N13.7","ICD9:593.7","HP:0000076"],"information_content":84.2}
{"id":"MONDO:0006009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"viral encephalitis","equivalent_identifiers":["MONDO:0006009","DOID:646","orphanet:98252","EFO:0007538","UMLS:C0243010","MESH:D018792","MEDDRA:10014612","MEDDRA:10014613","MEDDRA:10047439","NCIT:C35302","SNOMEDCT:34476008","medgen:116719","HP:0033993"],"information_content":79.9}
{"id":"MONDO:0006011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"viral hepatitis","equivalent_identifiers":["MONDO:0006011","DOID:1884","EFO:0004196","UMLS:C0019195","UMLS:C0042721","MESH:D006525","MEDDRA:10019715","MEDDRA:10019799","MEDDRA:10019800","MEDDRA:10047446","MEDDRA:10047459","MEDDRA:10047489","NCIT:C35124","SNOMEDCT:3738000","medgen:22652","icd11.foundation:985510409","HP:0006562"],"information_content":76.2}
{"id":"MONDO:0006022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acidosis","equivalent_identifiers":["MONDO:0006022","EFO:1000014","UMLS:C0001122","MESH:D000138","MEDDRA:10000486","MEDDRA:10000493","NCIT:C83504","SNOMEDCT:51387008","medgen:1296","HP:0001941"],"information_content":74.5}
{"id":"MONDO:0006031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic rhinosinusitis","equivalent_identifiers":["MONDO:0006031","EFO:1000024","UMLS:C0149516","UMLS:C0748720","MEDDRA:10009137","MEDDRA:10009141","MEDDRA:10040755","MEDDRA:10046164","NCIT:C35151","SNOMEDCT:40055000","SNOMEDCT:897657000","medgen:101751","icd11.foundation:1836987572","HP:0011109"],"information_content":89.4}
{"id":"MONDO:0006032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystitis","equivalent_identifiers":["MONDO:0006032","DOID:1679","EFO:1000025","UMLS:C0010692","MESH:D003556","MEDDRA:10011754","MEDDRA:10011781","MEDDRA:10011798","MEDDRA:10011802","MEDDRA:10063059","NCIT:C26738","SNOMEDCT:38822007","medgen:8227","icd11.foundation:1181120673","ICD10:N30","ICD9:595","HP:0100577"],"information_content":80.9}
{"id":"MONDO:0006037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrolethalus syndrome","equivalent_identifiers":["MONDO:0006037","DOID:0050779","OMIM.PS:236680","orphanet:2189","UMLS:C2931104","MESH:C536079","SNOMEDCT:721232000","medgen:419335"],"information_content":92.8}
{"id":"MONDO:0006040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lactic acidosis","equivalent_identifiers":["MONDO:0006040","EFO:1000036","UMLS:C0001125","UMLS:C0347959","MESH:D000140","MEDDRA:10000491","MEDDRA:10023676","NCIT:C98969","SNOMEDCT:190882007","SNOMEDCT:91273001","medgen:1717","HP:0003128"],"information_content":83.6}
{"id":"MONDO:0006041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung carcinoid tumor","equivalent_identifiers":["MONDO:0006041","EFO:1000037","UMLS:C0280089","MEDDRA:10007282","MEDDRA:10037342","MEDDRA:10037343","MEDDRA:10078174","MEDDRA:10078183","NCIT:C4038","SNOMEDCT:254627002","medgen:79070","HP:0030445"],"information_content":86.3}
{"id":"MONDO:0006044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrosclerosis","equivalent_identifiers":["MONDO:0006044","DOID:11664","EFO:1000041","UMLS:C0027719","MESH:D009400","MEDDRA:10003214","MEDDRA:10029159","MEDDRA:10038372","MEDDRA:10038524","MEDDRA:10038525","SNOMEDCT:32916005","medgen:14330","icd11.foundation:1878591797","ICD10:I12","ICD9:587","HP:0009741"],"information_content":100.0}
{"id":"MONDO:0006047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic adenocarcinoma","equivalent_identifiers":["MONDO:0006047","DOID:4074","EFO:1000044","UMLS:C0281361","MEDDRA:10051971","MEDDRA:10052747","NCIT:C8294","SNOMEDCT:700423003","medgen:83800","HP:0006725"],"information_content":72.5}
{"id":"MONDO:0006052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary tuberculosis","equivalent_identifiers":["MONDO:0006052","DOID:2957","EFO:1000049","UMLS:C0041327","MESH:D014397","MEDDRA:10034980","MEDDRA:10037435","MEDDRA:10037440","MEDDRA:10037443","MEDDRA:10046123","MEDDRA:10087871","NCIT:C26899","SNOMEDCT:154283005","SNOMEDCT:700272008","medgen:11947","ICD10:A15","ICD9:011","HP:0032262"],"information_content":89.4}
{"id":"MONDO:0006065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lactose intolerance adult type","equivalent_identifiers":["MONDO:0006065","OMIM:223100","EFO:1000063","UMLS:C0268181","UMLS:C1857231","MESH:C562601","SNOMEDCT:38032004","medgen:75659"],"information_content":100.0}
{"id":"MONDO:0006068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ACTH-producing pituitary gland adenoma","equivalent_identifiers":["MONDO:0006068","EFO:1000066","UMLS:C1306214","MEDDRA:10090077","NCIT:C7462","SNOMEDCT:21109002","SNOMEDCT:254958004","medgen:266291","HP:0008291"],"information_content":84.2}
{"id":"MONDO:0006085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiolipoma","equivalent_identifiers":["MONDO:0006085","DOID:3616","EFO:1000085","UMLS:C0206632","UMLS:C4024980","MESH:D018206","MEDDRA:10048945","NCIT:C3733","SNOMEDCT:404057003","SNOMEDCT:73219006","medgen:64621","HP:0006773"],"information_content":86.3}
{"id":"MONDO:0006120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C-cell hyperplasia","equivalent_identifiers":["MONDO:0006120","EFO:1000147","UMLS:C0342190","MEDDRA:10070568","MEDDRA:10070569","MEDDRA:10070570","NCIT:C46100","SNOMEDCT:237552009","medgen:90975","HP:0011781"],"information_content":87.2}
{"id":"MONDO:0006123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac rhabdomyoma","equivalent_identifiers":["MONDO:0006123","EFO:1000150","UMLS:C1332852","NCIT:C6739","medgen:232027","HP:0009729"],"information_content":87.2}
{"id":"MONDO:0006181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digestive system carcinoma","equivalent_identifiers":["MONDO:0006181","DOID:0050922","EFO:1000218","UMLS:C0151544","MEDDRA:10007351","MEDDRA:10017940","NCIT:C96963","medgen:57467","HP:0002672"],"information_content":51.3}
{"id":"MONDO:0006186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Duodenal Cancer","equivalent_identifiers":["MONDO:0006186","DOID:10816","EFO:1000223","UMLS:C0278804","UMLS:C0541912","MEDDRA:10007340","MEDDRA:10013815","MEDDRA:10013818","MEDDRA:10013821","MEDDRA:10013824","NCIT:C7889","SNOMEDCT:408644002","medgen:82985","HP:0006771"],"information_content":88.2}
{"id":"MONDO:0006190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endolymphatic sac tumor","equivalent_identifiers":["MONDO:0006190","EFO:1000230","UMLS:C2348239","NCIT:C67560","SNOMEDCT:699817008","medgen:389657","HP:0030393"],"information_content":100.0}
{"id":"MONDO:0006210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrolamellar hepatocellular carcinoma","equivalent_identifiers":["MONDO:0006210","DOID:5015","orphanet:401920","EFO:1000256","UMLS:C0334287","MESH:C537258","NCIT:C4131","SNOMEDCT:15619004","SNOMEDCT:253018005","medgen:83122"],"information_content":85.5}
{"id":"MONDO:0006231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastrointestinal hamartoma","equivalent_identifiers":["MONDO:0006231","EFO:1000280","UMLS:C0334092","UMLS:C3272802","UMLS:C3277418","NCIT:C8372","NCIT:C96475","SNOMEDCT:27391005","medgen:474435","HP:0004390"],"information_content":78.0}
{"id":"MONDO:0006239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"head and neck paraganglioma","equivalent_identifiers":["MONDO:0006239","EFO:1000288","UMLS:C1333944","NCIT:C5327","medgen:232588","HP:0002864"],"information_content":83.1}
{"id":"MONDO:0006248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydatidiform mole","equivalent_identifiers":["MONDO:0006248","OMIM.PS:231090","orphanet:99927","EFO:1000298","UMLS:C0020217","UMLS:C0549315","MESH:D006828","MEDDRA:10004272","MEDDRA:10020481","MEDDRA:10020482","MEDDRA:10020484","MEDDRA:10065063","NCIT:C3110","SNOMEDCT:417044008","SNOMEDCT:417271000","SNOMEDCT:44782008","medgen:9329","icd11.foundation:946166369","HP:0032192"],"information_content":86.3}
{"id":"MONDO:0006266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leydig cell tumor","equivalent_identifiers":["MONDO:0006266","DOID:2696","EFO:1000321","UMLS:C0023601","UMLS:C4022011","MESH:D007984","NCIT:C3188","medgen:9747","HP:0100618"],"information_content":85.5}
{"id":"MONDO:0006277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung lymphangioleiomyomatosis","equivalent_identifiers":["MONDO:0006277","DOID:3319","orphanet:538","EFO:1000334","UMLS:C0349649","NCIT:C38153","SNOMEDCT:277844007","medgen:91161"],"information_content":100.0}
{"id":"MONDO:0006292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant mesothelioma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0006292","DOID:1790","OMIM:156240","orphanet:50251","EFO:1000355","UMLS:C0278752","UMLS:C0345967","UMLS:C0392400","UMLS:C1332338","MESH:C562839","MESH:D000086002","MEDDRA:10027407","MEDDRA:10027408","MEDDRA:10027410","NCIT:C27926","NCIT:C4456","NCIT:C7865","NCIT:C8420","SNOMEDCT:109378008","SNOMEDCT:62064005","medgen:91062","icd11.foundation:369414280","HP:0100001"],"information_content":70.9}
{"id":"MONDO:0006314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nasal Polyp","equivalent_identifiers":["MONDO:0006314","EFO:1000391","UMLS:C0027430","MESH:D009298","MEDDRA:10028754","MEDDRA:10028756","MEDDRA:10036128","MEDDRA:10036138","MEDDRA:10046043","NCIT:C3256","SNOMEDCT:52756005","SNOMEDCT:736500007","medgen:6524","HP:0100582"],"information_content":100.0}
{"id":"MONDO:0006339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian microcystic stromal tumor","equivalent_identifiers":["MONDO:0006339","orphanet:569248","EFO:1000424","UMLS:C4054287","NCIT:C121953","medgen:889995"],"information_content":100.0}
{"id":"MONDO:0006354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parathyroid hyperplasia","equivalent_identifiers":["MONDO:0006354","EFO:1000457","UMLS:C0271844","MEDDRA:10079611","NCIT:C3989","SNOMEDCT:9092004","medgen:75767","HP:0008208"],"information_content":87.2}
{"id":"MONDO:0006363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peritoneal multicystic mesothelioma","equivalent_identifiers":["MONDO:0006363","orphanet:168816","EFO:1000468","UMLS:C1334818","NCIT:C6536","SNOMEDCT:716650003","medgen:233198"],"information_content":100.0}
{"id":"MONDO:0006372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituicytoma","equivalent_identifiers":["MONDO:0006372","DOID:0081280","orphanet:251623","EFO:1000477","UMLS:C2986550","MEDDRA:10089140","NCIT:C94524","SNOMEDCT:450901008","SNOMEDCT:608817003","medgen:458776","HP:0011754"],"information_content":100.0}
{"id":"MONDO:0006373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary gland adenoma","equivalent_identifiers":["MONDO:0006373","DOID:3829","orphanet:99408","EFO:1000478","UMLS:C0032000","MEDDRA:10035079","NCIT:C3329","SNOMEDCT:128664001","SNOMEDCT:254956000","medgen:45933","HP:0002893"],"information_content":72.0}
{"id":"MONDO:0006412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sinus histiocytosis with massive lymphadenopathy","equivalent_identifiers":["MONDO:0006412","orphanet:158014","UMLS:C0019625","UMLS:C5848165","MESH:D015618","MEDDRA:10063397","MEDDRA:10063591","NCIT:C36075","NCIT:C85069","SNOMEDCT:1295376005","SNOMEDCT:23041001","SNOMEDCT:34287003","medgen:9266","icd11.foundation:1908538383"],"information_content":81.7}
{"id":"MONDO:0006424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"soft tissue neoplasm","equivalent_identifiers":["MONDO:0006424","EFO:1000541","UMLS:C0037579","MESH:D012983","MEDDRA:10068771","NCIT:C3377","SNOMEDCT:387837005","medgen:11495","HP:0031459"],"information_content":52.1}
{"id":"MONDO:0006447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular non-seminomatous germ cell tumor","equivalent_identifiers":["MONDO:0006447","DOID:4086","orphanet:363494","EFO:1000570","UMLS:C1336724","UMLS:C2057625","UMLS:CN204702","NCIT:C9313","SNOMEDCT:107691000119101","medgen:890627"],"information_content":73.4}
{"id":"MONDO:0006451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type C thymoma","equivalent_identifiers":["MONDO:0006451","DOID:3284","DOID:4554","orphanet:99868","EFO:1000576","UMLS:C0205969","UMLS:C1322286","UMLS:CN207411","MEDDRA:10043673","MEDDRA:10061031","MEDDRA:10087220","NCIT:C7569","NCIT:C7612","SNOMEDCT:128717008","SNOMEDCT:15949004","SNOMEDCT:444374006","SNOMEDCT:444596001","medgen:60049","icd11.foundation:1351671383"],"information_content":78.5}
{"id":"MONDO:0006456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thymoma","equivalent_identifiers":["MONDO:0006456","DOID:3275","orphanet:99867","EFO:1000581","UMLS:C0040100","MESH:D013945","MEDDRA:10043670","MEDDRA:10043675","NCIT:C3411","SNOMEDCT:1187428006","SNOMEDCT:128856005","SNOMEDCT:444231005","medgen:52743","icd11.foundation:33869057","HP:0100522"],"information_content":74.5}
{"id":"MONDO:0006460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroglossal duct cyst","equivalent_identifiers":["MONDO:0006460","EFO:1000585","UMLS:C0040124","MESH:D013955","MEDDRA:10051320","MEDDRA:10051816","NCIT:C85189","SNOMEDCT:39462005","medgen:11810","HP:0010518"],"information_content":95.4}
{"id":"MONDO:0006468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid gland undifferentiated (anaplastic) carcinoma","equivalent_identifiers":["MONDO:0006468","DOID:0080522","orphanet:142","EFO:1000595","UMLS:C0238461","MESH:D065646","MEDDRA:10002240","NCIT:C3878","SNOMEDCT:255031003","medgen:116064","icd11.foundation:320540024","HP:0011779"],"information_content":81.3}
{"id":"MONDO:0006474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transitional cell carcinoma","equivalent_identifiers":["MONDO:0006474","DOID:2671","EFO:1000601","UMLS:C0007138","UMLS:C0279680","MESH:D002295","MEDDRA:10005084","MEDDRA:10007477","MEDDRA:10044412","MEDDRA:10046714","NCIT:C2930","SNOMEDCT:255109008","SNOMEDCT:27090000","medgen:2875","HP:0006740"],"information_content":64.7}
{"id":"MONDO:0006486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uveal melanoma","equivalent_identifiers":["MONDO:0006486","DOID:6039","OMIM:155720","orphanet:39044","EFO:1000616","UMLS:C0220633","MESH:C536494","MESH:D000098943","MEDDRA:10022797","MEDDRA:10061252","MEDDRA:10081431","NCIT:C7712","medgen:65077","HP:0007716"],"information_content":71.9}
{"id":"MONDO:0006496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palsy","equivalent_identifiers":["MONDO:0006496","EFO:1000631","UMLS:C0522224","UMLS:C3887651","MESH:D010243","MEDDRA:10033558","MEDDRA:10033798","MEDDRA:10033799","MEDDRA:10033819","MEDDRA:10033839","MEDDRA:10033846","NCIT:C116721","NCIT:C3310","SNOMEDCT:44695005","medgen:854494","HP:0003470"],"information_content":65.6}
{"id":"MONDO:0006497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral palsy","equivalent_identifiers":["MONDO:0006497","DOID:1969","EFO:1000632","UMLS:C0007789","MESH:D002547","MEDDRA:10008129","MEDDRA:10033560","NCIT:C34460","SNOMEDCT:128188000","medgen:854","icd11.foundation:76906748","ICD10:G80","HP:0100021"],"information_content":80.6}
{"id":"MONDO:0006499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hamartoma","equivalent_identifiers":["MONDO:0006499","EFO:1000634","UMLS:C0018552","MESH:D006222","MEDDRA:10019105","MEDDRA:10061193","NCIT:C3075","SNOMEDCT:400006008","SNOMEDCT:51398009","medgen:6713","HP:0010566"],"information_content":70.4}
{"id":"MONDO:0006500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemangioma","equivalent_identifiers":["MONDO:0006500","DOID:255","EFO:1000635","UMLS:C0018916","MESH:D006391","MEDDRA:10018814","MEDDRA:10018819","MEDDRA:10019386","MEDDRA:10019393","MEDDRA:10019401","MEDDRA:10055903","NCIT:C3085","SNOMEDCT:253053003","SNOMEDCT:400210000","medgen:5477","ICD10:D18.0","ICD9:228.00","HP:0001028"],"information_content":68.3}
{"id":"MONDO:0006502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute respiratory distress syndrome","equivalent_identifiers":["MONDO:0006502","EFO:1000637","UMLS:C2887484","NCIT:C3353","medgen:1812214","icd11.foundation:1189702844","HP:0033677"],"information_content":89.4}
{"id":"MONDO:0006515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute pancreatitis","equivalent_identifiers":["MONDO:0006515","DOID:2913","EFO:1000652","UMLS:C0001339","MEDDRA:10000971","MEDDRA:10033647","NCIT:C95437","SNOMEDCT:197456007","SNOMEDCT:7881005","medgen:7872","icd11.foundation:698285441","ICD10:K85","ICD9:577.0","HP:0001735"],"information_content":75.5}
{"id":"MONDO:0006527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anhidrosis","equivalent_identifiers":["MONDO:0006527","DOID:11156","EFO:1000670","UMLS:C0003028","MEDDRA:10002512","MEDDRA:10002513","NCIT:C34385","SNOMEDCT:14662005","SNOMEDCT:39659002","medgen:1550","ICD9:705.0","HP:0000970"],"information_content":90.9}
{"id":"MONDO:0006530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholesteatoma","equivalent_identifiers":["MONDO:0006530","DOID:869","EFO:1000675","UMLS:C0008373","MESH:D002781","MEDDRA:10008642","MEDDRA:10008648","NCIT:C2944","SNOMEDCT:363668000","SNOMEDCT:575006","medgen:3043","ICD10:H71.9","ICD9:385.30","HP:0009797"],"information_content":89.4}
{"id":"MONDO:0006536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital generalized lipodystrophy","equivalent_identifiers":["MONDO:0006536","DOID:0050585","OMIM.PS:608594","EFO:1000681","UMLS:C0221032","MESH:D052497","MEDDRA:10010533","MEDDRA:10044095","MEDDRA:10049286","MEDDRA:10053432","MEDDRA:10053547","MEDDRA:10053860","MEDDRA:10073666","MEDDRA:10073668","SNOMEDCT:284449005","medgen:67438","HP:0009059"],"information_content":88.2}
{"id":"MONDO:0006547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exanthem","equivalent_identifiers":["MONDO:0006547","DOID:0050486","EFO:1000697","UMLS:C0015230","UMLS:C5779628","UMLS:C5779629","MESH:D005076","MEDDRA:10015585","MEDDRA:10015587","MEDDRA:10037844","MEDDRA:10037845","MEDDRA:10037872","MEDDRA:10040841","MEDDRA:10040913","MEDDRA:10058692","NCIT:C111884","NCIT:C39594","SNOMEDCT:112625008","SNOMEDCT:271807003","medgen:8732","ICD10:R21","ICD9:782.1","HP:0000988"],"information_content":74.7}
{"id":"MONDO:0006552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"folliculitis","equivalent_identifiers":["MONDO:0006552","DOID:4409","EFO:1000702","UMLS:C0016436","MESH:D005499","MEDDRA:10016936","NCIT:C94408","SNOMEDCT:13600006","SNOMEDCT:721130001","medgen:4752","HP:0025084"],"information_content":88.2}
{"id":"MONDO:0006558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pemphigoid gestationis","equivalent_identifiers":["MONDO:0006558","DOID:0040098","DOID:14482","orphanet:63275","EFO:1000709","UMLS:C0019343","MESH:D006559","MEDDRA:10019939","MEDDRA:10052801","NCIT:C85003","SNOMEDCT:86081009","medgen:9233","icd11.foundation:1405755890","ICD10:O26.4"],"information_content":100.0}
{"id":"MONDO:0006559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acne inversa","equivalent_identifiers":["MONDO:0006559","DOID:2280","EFO:1000710","UMLS:C0162836","MESH:D017497","MEDDRA:10020041","MEDDRA:10076650","MEDDRA:10085165","NCIT:C128429","SNOMEDCT:59393003","medgen:57993","icd11.foundation:1621794154","ICD10:L73.2","HP:0040154"],"information_content":89.4}
{"id":"MONDO:0006573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipodystrophy","equivalent_identifiers":["MONDO:0006573","DOID:811","EFO:1000727","UMLS:C0023787","MESH:D008060","MEDDRA:10024606","MEDDRA:10024608","NCIT:C97093","SNOMEDCT:71325002","medgen:6111","ICD9:272.6","HP:0009125"],"information_content":73.9}
{"id":"MONDO:0006574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipomatosis","equivalent_identifiers":["MONDO:0006574","DOID:3153","EFO:1000728","UMLS:C0023801","UMLS:C0745730","MESH:D008068","MEDDRA:10051847","MEDDRA:10061228","NCIT:C3193","SNOMEDCT:37095002","SNOMEDCT:402693001","SNOMEDCT:404062002","medgen:9781","ICD10:E88.2","HP:0001012"],"information_content":84.2}
{"id":"MONDO:0006582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mongolian spot","equivalent_identifiers":["MONDO:0006582","DOID:4702","EFO:1000736","UMLS:C0265985","MESH:D049328","MEDDRA:10027815","NCIT:C3945","SNOMEDCT:40467008","medgen:75591","HP:0011369"],"information_content":100.0}
{"id":"MONDO:0006583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"necrobiosis lipoidica","equivalent_identifiers":["MONDO:0006583","DOID:3486","orphanet:542592","EFO:1000738","UMLS:C0027538","MESH:D009335","MEDDRA:10028847","NCIT:C34840","SNOMEDCT:9418005","medgen:45021","icd11.foundation:655608138"],"information_content":100.0}
{"id":"MONDO:0006590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratosis","equivalent_identifiers":["MONDO:0006590","DOID:3390","EFO:1000745","UMLS:C0022596","NCIT:C34748","SNOMEDCT:706885006","medgen:44017","ICD10:L85.2","HP:0000972"],"information_content":70.8}
{"id":"MONDO:0006591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panniculitis","equivalent_identifiers":["MONDO:0006591","DOID:1526","EFO:1000746","UMLS:C0030326","MESH:D015434","MEDDRA:10033674","MEDDRA:10033675","MEDDRA:10033680","MEDDRA:10033681","NCIT:C112112","NCIT:C33645","SNOMEDCT:22125009","medgen:45301","icd11.foundation:1056888958","ICD10:M79.3","ICD9:729.30","HP:0012490"],"information_content":82.6}
{"id":"MONDO:0006593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelvic lipomatosis","equivalent_identifiers":["MONDO:0006593","DOID:3927","EFO:1000748","UMLS:C0406608","MESH:C535549","NCIT:C27486","SNOMEDCT:190802005","medgen:96064","HP:0034009"],"information_content":100.0}
{"id":"MONDO:0006602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis","equivalent_identifiers":["MONDO:0006602","DOID:3805","OMIM.PS:175800","orphanet:79358","EFO:1000757","UMLS:C0162839","MESH:D017499","MEDDRA:10036175","NCIT:C85019","SNOMEDCT:400080004","medgen:56518","icd11.foundation:29524620","ICD10:L56.5","ICD9:692.75","HP:0200044"],"information_content":83.1}
{"id":"MONDO:0006604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rosacea","equivalent_identifiers":["MONDO:0006604","DOID:8881","EFO:1000760","UMLS:C0005874","UMLS:C0035854","UMLS:C0239488","UMLS:C4020880","UMLS:C5848177","MESH:D001821","MESH:D012393","MEDDRA:10000514","MEDDRA:10015212","MEDDRA:10016046","MEDDRA:10016823","MEDDRA:10016826","MEDDRA:10039218","MEDDRA:10039219","NCIT:C97136","SNOMEDCT:20255002","SNOMEDCT:271811009","SNOMEDCT:398909004","medgen:11269","icd11.foundation:134161404","ICD10:L71","ICD9:695.3","HP:0001041"],"information_content":95.4}
{"id":"MONDO:0006608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seborrheic dermatitis","equivalent_identifiers":["MONDO:0006608","DOID:8741","EFO:1000764","UMLS:C0036508","UMLS:C3806554","MESH:D012628","MEDDRA:10012488","MEDDRA:10012489","MEDDRA:10014204","MEDDRA:10039788","MEDDRA:10039789","MEDDRA:10039793","MEDDRA:10039795","MEDDRA:10062813","MEDDRA:10062814","NCIT:C111888","SNOMEDCT:50563003","SNOMEDCT:86708008","medgen:19912","ICD10:L21","ICD9:690.1","HP:0001051"],"information_content":90.9}
{"id":"MONDO:0006610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin atrophy","equivalent_identifiers":["MONDO:0006610","DOID:2733","EFO:1000766","UMLS:C0151514","MEDDRA:10003719","MEDDRA:10040799","NCIT:C35163","SNOMEDCT:399979006","SNOMEDCT:400190005","medgen:101793","ICD10:L90","HP:0004334"],"information_content":87.2}
{"id":"MONDO:0006614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subcorneal pustular dermatosis","equivalent_identifiers":["MONDO:0006614","DOID:8508","orphanet:48377","EFO:1000771","UMLS:C0600336","MEDDRA:10042342","MEDDRA:10059409","SNOMEDCT:25147002","medgen:108687","icd11.foundation:1952122675","ICD10:L13.1","ICD9:694.1"],"information_content":100.0}
{"id":"MONDO:0006615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sweat gland disorder","equivalent_identifiers":["MONDO:0006615","DOID:1383","EFO:1000772","UMLS:C0038986","UMLS:C0262643","UMLS:C4020881","MESH:D013543","MEDDRA:10042653","MEDDRA:10042654","MEDDRA:10045827","SNOMEDCT:88232005","medgen:892310","ICD10:L74.9","ICD9:705.9","HP:0000971"],"information_content":71.7}
{"id":"MONDO:0006624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urinary Urgency","equivalent_identifiers":["MONDO:0006624","DOID:0070355","EFO:1000781","UMLS:C0085606","UMLS:C0878773","UMLS:C3544092","UMLS:C4020898","MESH:D053201","MEDDRA:10020853","MEDDRA:10020861","MEDDRA:10027566","MEDDRA:10046496","MEDDRA:10046497","MEDDRA:10046593","MEDDRA:10046604","MEDDRA:10058970","MEDDRA:10059617","MEDDRA:10073537","NCIT:C200787","NCIT:C50792","SNOMEDCT:236633002","SNOMEDCT:75088002","SNOMEDCT:786457000","medgen:168058","icd11.foundation:1118102209","ICD10:N32.81","ICD9:596.51","HP:0000012"],"information_content":100.0}
{"id":"MONDO:0006629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoarthritis, hip","equivalent_identifiers":["MONDO:0006629","EFO:1000786","UMLS:C0029410","MESH:D015207","MEDDRA:10020108","MEDDRA:10029875","MEDDRA:10029876","MEDDRA:10048793","MEDDRA:10065955","MEDDRA:10090417","NCIT:C34876","medgen:14530","HP:0008843"],"information_content":100.0}
{"id":"MONDO:0006637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute kidney tubular necrosis","equivalent_identifiers":["MONDO:0006637","DOID:12556","EFO:1000794","UMLS:C0022672","MESH:D007683","MEDDRA:10001099","MEDDRA:10024963","MEDDRA:10029162","MEDDRA:10038541","NCIT:C34749","SNOMEDCT:35455006","medgen:7213","ICD10:N17.0","HP:0008682"],"information_content":100.0}
{"id":"MONDO:0006639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal cortex carcinoma","equivalent_identifiers":["MONDO:0006639","DOID:3948","DOID:3959","DOID:660","orphanet:1501","EFO:1000796","UMLS:C0206686","MEDDRA:10001326","MEDDRA:10001327","MEDDRA:10001388","MEDDRA:10007285","MEDDRA:10055076","NCIT:C9325","SNOMEDCT:2227007","SNOMEDCT:255035007","medgen:104917","ICD10:C74.0","HP:0006744"],"information_content":75.3}
{"id":"MONDO:0006640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal gland hyperfunction","equivalent_identifiers":["MONDO:0006640","DOID:3947","EFO:1000797","UMLS:C0001622","UMLS:C0342443","UMLS:C4025651","MESH:D000308","MEDDRA:10001332","MEDDRA:10001341","MEDDRA:10001365","MEDDRA:10020561","MEDDRA:10020562","MEDDRA:10020563","MEDDRA:10020564","MEDDRA:10020609","MEDDRA:10020610","MEDDRA:10020611","MEDDRA:10020612","MEDDRA:10075909","MEDDRA:10075914","NCIT:C113208","SNOMEDCT:237735008","SNOMEDCT:275437005","SNOMEDCT:47270006","medgen:7899","HP:0003118"],"information_content":83.6}
{"id":"MONDO:0006651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior uveitis","equivalent_identifiers":["MONDO:0006651","DOID:1407","orphanet:280886","EFO:1000811","UMLS:C0042165","UMLS:C0701807","MESH:D014606","MEDDRA:10002709","MEDDRA:10046852","NCIT:C119989","NCIT:C35109","SNOMEDCT:410692006","SNOMEDCT:4927003","medgen:22595","icd11.foundation:908233081","HP:0012122"],"information_content":83.1}
{"id":"MONDO:0006655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic valve prolapse","equivalent_identifiers":["MONDO:0006655","DOID:5232","EFO:1000815","UMLS:C0003505","MESH:D001023","MEDDRA:10057454","medgen:1619","HP:0025578"],"information_content":100.0}
{"id":"MONDO:0006662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aseptic meningitis","equivalent_identifiers":["MONDO:0006662","DOID:12157","EFO:1000823","UMLS:C0025290","MESH:D008582","MEDDRA:10003458","MEDDRA:10027201","NCIT:C118299","SNOMEDCT:301770000","medgen:7534","icd11.foundation:453360366","ICD10:G03.0","HP:0033430"],"information_content":90.9}
{"id":"MONDO:0006663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"perinatal asphyxia","equivalent_identifiers":["MONDO:0006663","DOID:11088","orphanet:137577","EFO:1000824","UMLS:C0004045","UMLS:C0559477","MESH:D001238","MEDDRA:10003500","MEDDRA:10004943","MEDDRA:10028923","MEDDRA:10073494","NCIT:C116313","SNOMEDCT:281578009","SNOMEDCT:28314004","SNOMEDCT:413654009","medgen:2469","icd11.foundation:1281282034","ICD10:P84","ICD9:768.9","HP:0012768"],"information_content":100.0}
{"id":"MONDO:0006664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect","equivalent_identifiers":["MONDO:0006664","DOID:1882","OMIM.PS:108800","orphanet:1478","EFO:1000825","UMLS:C0018817","MESH:D006344","MEDDRA:10003664","MEDDRA:10003666","MEDDRA:10010377","MEDDRA:10019308","MEDDRA:10040055","NCIT:C84473","SNOMEDCT:253366007","SNOMEDCT:405752007","SNOMEDCT:70142008","medgen:6753","HP:0001631"],"information_content":81.7}
{"id":"MONDO:0006665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic atrophic gastritis","equivalent_identifiers":["MONDO:0006665","DOID:8929","EFO:1000826","UMLS:C0017154","MESH:D005757","MEDDRA:10003685","MEDDRA:10017860","NCIT:C7405","SNOMEDCT:84568007","medgen:42157","ICD10:K29.4","ICD9:535.1","HP:0002582"],"information_content":95.4}
{"id":"MONDO:0006669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacterial endocarditis","equivalent_identifiers":["MONDO:0006669","EFO:1000830","UMLS:C0014121","MESH:D004697","MEDDRA:10004019","MEDDRA:10014666","MEDDRA:10014668","MEDDRA:10014678","NCIT:C128359","SNOMEDCT:301183007","medgen:41779","icd11.foundation:1924438986","HP:0006689"],"information_content":88.2}
{"id":"MONDO:0006672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"balanitis","equivalent_identifiers":["MONDO:0006672","DOID:13033","EFO:1000833","UMLS:C0004690","MESH:D001446","MEDDRA:10004073","MEDDRA:10004076","MEDDRA:10034338","NCIT:C26705","SNOMEDCT:371163003","SNOMEDCT:44882003","medgen:14020","ICD10:N48.1","HP:0034438"],"information_content":89.4}
{"id":"MONDO:0006680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blue nevus","equivalent_identifiers":["MONDO:0006680","EFO:1000841","UMLS:C0206736","UMLS:C5961146","MESH:D018329","MEDDRA:10005882","MEDDRA:10062788","NCIT:C3803","SNOMEDCT:254806009","SNOMEDCT:63166000","medgen:104930","HP:0100814"],"information_content":84.8}
{"id":"MONDO:0006683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachial plexus neuropathy","equivalent_identifiers":["MONDO:0006683","DOID:3690","EFO:1000844","UMLS:C0700251","MESH:D020516","MEDDRA:10065417","NCIT:C27194","SNOMEDCT:3548001","medgen:148580","HP:0045054"],"information_content":83.6}
{"id":"MONDO:0006684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain edema","equivalent_identifiers":["MONDO:0006684","DOID:4724","EFO:1000845","UMLS:C0006114","UMLS:C1527311","MESH:D001929","MEDDRA:10006121","MEDDRA:10008107","MEDDRA:10008127","MEDDRA:10014216","MEDDRA:10014217","MEDDRA:10030098","MEDDRA:10048962","MEDDRA:10055915","MEDDRA:10058952","NCIT:C4909","SNOMEDCT:2032001","medgen:2337","HP:0002181"],"information_content":95.4}
{"id":"MONDO:0006687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"burning mouth syndrome","equivalent_identifiers":["MONDO:0006687","DOID:4331","orphanet:353253","EFO:1000850","UMLS:C0006430","MESH:D002054","MEDDRA:10050820","MEDDRA:10054520","MEDDRA:10068065","NCIT:C62545","SNOMEDCT:399165002","medgen:14254","icd11.foundation:618998878"],"information_content":95.4}
{"id":"MONDO:0006702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic inflammatory demyelinating polyradiculoneuropathy","equivalent_identifiers":["MONDO:0006702","DOID:2536","DOID:5213","orphanet:2932","EFO:1000868","UMLS:C0393819","MESH:D020277","MEDDRA:10057645","MEDDRA:10072650","MEDDRA:10077384","NCIT:C84636","SNOMEDCT:128209004","medgen:98292","icd11.foundation:224318510","ICD10:G61.81","ICD9:357.81"],"information_content":95.4}
{"id":"MONDO:0006710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex partial epilepsy","equivalent_identifiers":["MONDO:0006710","DOID:12382","EFO:1000877","UMLS:C0085417","UMLS:C0149958","UMLS:C0270834","MESH:D017029","MEDDRA:10010145","MEDDRA:10034057","MEDDRA:10034090","MEDDRA:10037209","MEDDRA:10083379","NCIT:C155290","SNOMEDCT:407675009","SNOMEDCT:4103001","medgen:43169","HP:0002384"],"information_content":71.8}
{"id":"MONDO:0006711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"constrictive pericarditis","equivalent_identifiers":["MONDO:0006711","DOID:11481","EFO:1000878","UMLS:C0031048","UMLS:C0031876","MESH:D010494","MEDDRA:10010783","MEDDRA:10034487","NCIT:C78246","SNOMEDCT:85598007","medgen:18378","icd11.foundation:1722995229","ICD9:423.2","HP:0002563"],"information_content":100.0}
{"id":"MONDO:0006713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Corneal pannus","equivalent_identifiers":["MONDO:0006713","DOID:11382","EFO:1000880","UMLS:C0085109","UMLS:C0155094","MESH:D016510","MEDDRA:10011031","MEDDRA:10011032","MEDDRA:10033682","MEDDRA:10055665","NCIT:C50686","SNOMEDCT:19161004","SNOMEDCT:246925003","SNOMEDCT:35666006","medgen:43103","icd11.foundation:2077068570","ICD10:H16.4","ICD9:370.6","HP:0011496"],"information_content":95.4}
{"id":"MONDO:0006714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary aneurysm","equivalent_identifiers":["MONDO:0006714","DOID:3362","EFO:1000881","UMLS:C0010051","UMLS:C4255100","MESH:D003323","MEDDRA:10002348","MEDDRA:10011071","NCIT:C168176","SNOMEDCT:50570003","medgen:3622","ICD10:I25.41","ICD9:414.11","HP:0030882"],"information_content":95.4}
{"id":"MONDO:0006715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary stenosis","equivalent_identifiers":["MONDO:0006715","DOID:4248","UMLS:C0242231","MESH:D023921","MEDDRA:10011089","NCIT:C80427","SNOMEDCT:233970002","medgen:66859","HP:0005145"],"information_content":90.9}
{"id":"MONDO:0006726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diaphragmatic eventration","equivalent_identifiers":["MONDO:0006726","DOID:10480","EFO:1000898","UMLS:C0011981","MESH:D003965","NCIT:C98912","SNOMEDCT:34168003","medgen:8359","ICD10:Q79.1","HP:0009110"],"information_content":100.0}
{"id":"MONDO:0006738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Poroma","equivalent_identifiers":["MONDO:0006738","DOID:5442","EFO:1000912","EFO:1001826","UMLS:C0206671","UMLS:C2717981","UMLS:C2718092","MESH:D018250","MESH:D057091","NCIT:C27273","SNOMEDCT:400099008","SNOMEDCT:81143000","medgen:104915","HP:0031405"],"information_content":85.5}
{"id":"MONDO:0006740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"empty sella syndrome","equivalent_identifiers":["MONDO:0006740","DOID:3642","EFO:1000914","UMLS:C0014008","MESH:D004652","MEDDRA:10014567","NCIT:C84686","SNOMEDCT:237722004","medgen:41766","icd11.foundation:49112094","HP:6000483"],"information_content":100.0}
{"id":"MONDO:0006741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalomalacia","equivalent_identifiers":["MONDO:0006741","DOID:2034","EFO:1000915","UMLS:C0014068","MESH:D004678","MEDDRA:10051818","MEDDRA:10067463","NCIT:C98920","SNOMEDCT:58762006","medgen:4936","icd11.foundation:689481271","HP:0040197"],"information_content":92.8}
{"id":"MONDO:0006745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrioid stromal sarcoma","equivalent_identifiers":["MONDO:0006745","DOID:4226","orphanet:213711","EFO:1000919","UMLS:C0206630","UMLS:C2239246","UMLS:C2959547","MESH:D018203","MEDDRA:10048397","MEDDRA:10057649","NCIT:C126998","NCIT:C8973","SNOMEDCT:1178986006","SNOMEDCT:447266004","SNOMEDCT:699356008","SNOMEDCT:699358009","SNOMEDCT:70555003","medgen:60196"],"information_content":77.8}
{"id":"MONDO:0006746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endomyocardial fibrosis","equivalent_identifiers":["MONDO:0006746","DOID:12932","EFO:1000921","UMLS:C0014183","UMLS:C0553980","UMLS:C1959600","MESH:D004719","MEDDRA:10014664","MEDDRA:10014800","MEDDRA:10016645","MEDDRA:10029891","NCIT:C34585","SNOMEDCT:398716006","SNOMEDCT:398754006","medgen:107513","icd11.foundation:365224859","ICD9:425.0","HP:0006685"],"information_content":95.4}
{"id":"MONDO:0006757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extrahepatic cholestasis","equivalent_identifiers":["MONDO:0006757","DOID:13619","EFO:1000933","UMLS:C0005398","MESH:D001651","MEDDRA:10008637","MEDDRA:10015819","NCIT:C34420","SNOMEDCT:20719006","SNOMEDCT:8262006","medgen:2241","HP:0012334"],"information_content":95.4}
{"id":"MONDO:0006761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibromuscular dysplasia","equivalent_identifiers":["MONDO:0006761","OMIM:135580","EFO:1000938","UMLS:C0016052","MESH:C537929","MESH:D005352","MEDDRA:10054794","NCIT:C84714","SNOMEDCT:31653004","SNOMEDCT:359553002","SNOMEDCT:783729004","medgen:4700","HP:0005313"],"information_content":100.0}
{"id":"MONDO:0006764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fungal meningitis","equivalent_identifiers":["MONDO:0006764","DOID:11608","EFO:1000942","UMLS:C0085438","MESH:D016921","MEDDRA:10017538","MEDDRA:10027236","MEDDRA:10027238","SNOMEDCT:24321005","medgen:39285","icd11.foundation:1137081791","HP:0032159"],"information_content":92.8}
{"id":"MONDO:0006766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gait apraxia","equivalent_identifiers":["MONDO:0006766","DOID:4260","EFO:1000944","UMLS:C0751838","UMLS:C1510417","MESH:D020235","MEDDRA:10070635","SNOMEDCT:30767006","medgen:266930","HP:0010521"],"information_content":100.0}
{"id":"MONDO:0006769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastroparesis","equivalent_identifiers":["MONDO:0006769","DOID:11914","EFO:1000948","UMLS:C0152020","MESH:D018589","MEDDRA:10003632","MEDDRA:10003634","MEDDRA:10017753","MEDDRA:10017818","MEDDRA:10018043","MEDDRA:10033811","MEDDRA:10042077","NCIT:C80512","SNOMEDCT:196753007","SNOMEDCT:235675006","medgen:101809","icd11.foundation:598423727","ICD10:K31.84","ICD9:536.3","HP:0002578"],"information_content":95.4}
{"id":"MONDO:0006771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glossitis","equivalent_identifiers":["MONDO:0006771","DOID:1456","EFO:1000951","UMLS:C0017675","MESH:D005928","MEDDRA:10018386","MEDDRA:10021968","MEDDRA:10043961","NCIT:C112199","SNOMEDCT:45534005","medgen:6618","icd11.foundation:843084384","ICD10:K14.0","ICD9:529.0","HP:0000206"],"information_content":90.9}
{"id":"MONDO:0006786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatic vein thrombosis","equivalent_identifiers":["MONDO:0006786","DOID:11512","EFO:1000966","UMLS:C0019154","MEDDRA:10019713","SNOMEDCT:38739001","medgen:9217","icd11.foundation:2131410813","ICD10:I82.0","HP:0030243"],"information_content":100.0}
{"id":"MONDO:0006789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperamylasemia","equivalent_identifiers":["MONDO:0006789","EFO:1000969","UMLS:C0221773","UMLS:C0476327","MESH:D034321","MEDDRA:10002018","MEDDRA:10040139","MEDDRA:10062770","MEDDRA:10062777","NCIT:C113755","NCIT:C78608","SNOMEDCT:275739007","medgen:105401","HP:0410288"],"information_content":100.0}
{"id":"MONDO:0006791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperemesis gravidarum","equivalent_identifiers":["MONDO:0006791","EFO:1000971","UMLS:C0020450","MESH:D006939","MEDDRA:10015592","MEDDRA:10015609","MEDDRA:10020614","NCIT:C87084","SNOMEDCT:14094001","medgen:43776","HP:0012188"],"information_content":95.4}
{"id":"MONDO:0006793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperpituitarism","equivalent_identifiers":["MONDO:0006793","DOID:2444","EFO:1000973","UMLS:C0020506","MESH:D006964","MEDDRA:10002700","MEDDRA:10020716","MEDDRA:10020717","SNOMEDCT:10649000","medgen:43783","HP:0010514"],"information_content":79.0}
{"id":"MONDO:0006794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypersensitivity vasculitis","equivalent_identifiers":["MONDO:0006794","DOID:9809","EFO:1000974","UMLS:C2973529","MEDDRA:10024278","MEDDRA:10024377","NCIT:C82863","SNOMEDCT:60555002","ICD9:446.2","HP:0034786"],"information_content":92.8}
{"id":"MONDO:0006795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypersplenism","equivalent_identifiers":["MONDO:0006795","DOID:6376","EFO:1000975","UMLS:C0020532","MESH:D006971","MEDDRA:10020769","NCIT:C34714","SNOMEDCT:58381000","medgen:9372","icd11.foundation:2093549625","ICD10:D73.1","ICD9:289.4","HP:0001971"],"information_content":89.4}
{"id":"MONDO:0006797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertensive retinopathy","equivalent_identifiers":["MONDO:0006797","DOID:11561","EFO:1000977","UMLS:C0152132","MESH:D058437","MEDDRA:10020839","MEDDRA:10038926","NCIT:C3514","SNOMEDCT:6962006","medgen:101819","icd11.foundation:218513628","ICD10:H35.03","ICD9:362.11","HP:0001095"],"information_content":100.0}
{"id":"MONDO:0006802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inappropriate ADH syndrome","equivalent_identifiers":["MONDO:0006802","DOID:3401","EFO:1000982","UMLS:C0021141","MESH:D007177","MEDDRA:10001270","MEDDRA:10001271","MEDDRA:10021586","MEDDRA:10021587","MEDDRA:10021598","MEDDRA:10040626","MEDDRA:10042818","MEDDRA:10053198","MEDDRA:10071644","MEDDRA:10087107","NCIT:C3988","SNOMEDCT:55004003","medgen:5772","ICD10:E22.2","HP:0031218"],"information_content":100.0}
{"id":"MONDO:0006806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermediate uveitis","equivalent_identifiers":["MONDO:0006806","DOID:12732","orphanet:279914","EFO:1000986","UMLS:C0042166","MESH:D015867","MEDDRA:10022557","MEDDRA:10034631","NCIT:C35110","SNOMEDCT:314429009","medgen:22596","icd11.foundation:892860325","HP:0012124"],"information_content":92.8}
{"id":"MONDO:0006807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal perforation","equivalent_identifiers":["MONDO:0006807","DOID:2074","EFO:1000987","UMLS:C0021845","MESH:D007416","MEDDRA:10006056","MEDDRA:10022694","MEDDRA:10022696","MEDDRA:10034385","MEDDRA:10034406","MEDDRA:10034413","MEDDRA:10034421","NCIT:C39611","SNOMEDCT:56905009","medgen:9525","ICD9:569.83","HP:0031368"],"information_content":84.8}
{"id":"MONDO:0006810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracranial hypertension","equivalent_identifiers":["MONDO:0006810","DOID:9428","EFO:1000992","UMLS:C0151740","MESH:D019586","MEDDRA:10011570","MEDDRA:10020780","MEDDRA:10021665","MEDDRA:10022764","MEDDRA:10022765","MEDDRA:10022772","MEDDRA:10022773","MEDDRA:10022774","MEDDRA:10036642","MEDDRA:10036647","NCIT:C187268","NCIT:C84791","SNOMEDCT:271719001","medgen:56241","HP:0002516"],"information_content":90.9}
{"id":"MONDO:0006814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iritis","equivalent_identifiers":["MONDO:0006814","DOID:1406","EFO:1000997","UMLS:C0022081","MESH:D007500","MEDDRA:10022955","NCIT:C50621","SNOMEDCT:65074000","medgen:7160","HP:0001101"],"information_content":86.3}
{"id":"MONDO:0006816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthropathy","equivalent_identifiers":["MONDO:0006816","DOID:381","EFO:1000999","UMLS:C0022408","UMLS:C0157749","MESH:D007592","MEDDRA:10003285","MEDDRA:10003286","MEDDRA:10003376","MEDDRA:10003392","MEDDRA:10003394","MEDDRA:10003416","MEDDRA:10003418","MEDDRA:10013230","MEDDRA:10023211","MEDDRA:10023212","MEDDRA:10023213","MEDDRA:10023214","MEDDRA:10023216","MEDDRA:10045640","MEDDRA:10045795","MEDDRA:10045798","NCIT:C35760","NCIT:C78402","SNOMEDCT:363162000","SNOMEDCT:396233005","SNOMEDCT:399269003","medgen:7190","ICD10:M00-M02","ICD10:M12.9","ICD9:711","ICD9:719.90","HP:0003040"],"information_content":68.5}
{"id":"MONDO:0006825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kuru","equivalent_identifiers":["MONDO:0006825","DOID:648","orphanet:454745","EFO:1001008","UMLS:C0022802","MESH:D007729","MEDDRA:10023497","MEDDRA:10023498","SNOMEDCT:86188000","medgen:9653","icd11.foundation:553889510","ICD10:A81.81","ICD9:046.0"],"information_content":95.4}
{"id":"MONDO:0006835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoid nephrosis","equivalent_identifiers":["MONDO:0006835","DOID:10966","EFO:1001020","UMLS:C0027721","UMLS:C1704321","MESH:D009402","MEDDRA:10018374","MEDDRA:10027643","MEDDRA:10029168","MEDDRA:10058325","MEDDRA:10058326","NCIT:C34844","NCIT:C35540","SNOMEDCT:44785005","medgen:10307","ICD10:N04","HP:0012579"],"information_content":100.0}
{"id":"MONDO:0006840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphangiectasis","equivalent_identifiers":["MONDO:0006840","EFO:1001025","UMLS:C0024214","MESH:D008200","MEDDRA:10025210","MEDDRA:10025214","MEDDRA:10087674","NCIT:C97087","SNOMEDCT:48087001","medgen:9827","HP:0031842"],"information_content":86.3}
{"id":"MONDO:0006843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular holes","equivalent_identifiers":["MONDO:0006843","DOID:7633","EFO:1001028","UMLS:C0024441","MEDDRA:10051058","NCIT:C34795","SNOMEDCT:232006002","medgen:6176","HP:0011508"],"information_content":95.4}
{"id":"MONDO:0006851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meconium aspiration syndrome","equivalent_identifiers":["MONDO:0006851","DOID:11049","orphanet:70588","EFO:1001037","UMLS:C0025048","MESH:D008471","MEDDRA:10027057","MEDDRA:10076496","NCIT:C87093","SNOMEDCT:206292002","medgen:6258","icd11.foundation:872221482","ICD10:P24.01"],"information_content":100.0}
{"id":"MONDO:0006869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular goiter","equivalent_identifiers":["MONDO:0006869","DOID:13197","EFO:1001062","UMLS:C0018023","MESH:D006044","MEDDRA:10018495","MEDDRA:10058256","NCIT:C131437","SNOMEDCT:419153005","medgen:42271","HP:0005994"],"information_content":88.2}
{"id":"MONDO:0006879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papilledema","equivalent_identifiers":["MONDO:0006879","DOID:10175","DOID:146","EFO:1001074","UMLS:C0030353","UMLS:C0155288","UMLS:C0919308","MESH:D010211","MEDDRA:10013058","MEDDRA:10013061","MEDDRA:10030918","MEDDRA:10030920","MEDDRA:10030923","MEDDRA:10030948","MEDDRA:10033703","MEDDRA:10033707","MEDDRA:10033708","MEDDRA:10033709","MEDDRA:10033710","MEDDRA:10033712","MEDDRA:10055401","MEDDRA:10055949","MEDDRA:10089152","NCIT:C3307","SNOMEDCT:248487006","SNOMEDCT:423341008","SNOMEDCT:423488006","SNOMEDCT:73221001","medgen:10565","ICD10:H35.81","ICD10:H47.1","ICD10:H47.11","ICD9:362.83","ICD9:377.0","ICD9:377.01","HP:0001085"],"information_content":87.2}
{"id":"MONDO:0006882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orchitis","equivalent_identifiers":["MONDO:0006882","DOID:2518","EFO:1001078","UMLS:C0029191","MESH:D009920","MEDDRA:10031064","MEDDRA:10031069","MEDDRA:10062590","NCIT:C97145","SNOMEDCT:274718005","medgen:18191","ICD10:N45.2","HP:0100796"],"information_content":85.5}
{"id":"MONDO:0006890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parathyroid gland adenoma","equivalent_identifiers":["MONDO:0006890","DOID:7608","EFO:1001087","UMLS:C0262587","MEDDRA:10033940","NCIT:C156757","NCIT:C3916","SNOMEDCT:128474007","medgen:75502","ICD10:D35.1","HP:0002897"],"information_content":81.7}
{"id":"MONDO:0006891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial motor epilepsy","equivalent_identifiers":["MONDO:0006891","DOID:3327","EFO:1001089","UMLS:C0016399","UMLS:C5397594","MESH:D020938","MEDDRA:10080918","NCIT:C50847","SNOMEDCT:128612007","SNOMEDCT:82401000","medgen:5237","HP:0011153"],"information_content":71.4}
{"id":"MONDO:0006892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aura","equivalent_identifiers":["MONDO:0006892","DOID:3330","EFO:1001090","UMLS:C0236018","UMLS:C0544645","UMLS:C0752322","MESH:D020937","MEDDRA:10003791","MEDDRA:10051375","MEDDRA:10088258","SNOMEDCT:1281839006","SNOMEDCT:18618006","medgen:107460","HP:0011157"],"information_content":78.3}
{"id":"MONDO:0006897","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Radicular Cyst","equivalent_identifiers":["MONDO:0006897","DOID:4617","EFO:1001096","UMLS:C0031029","UMLS:C0031087","UMLS:C0034543","UMLS:C0600297","UMLS:C1852169","UMLS:C4280609","MESH:D010484","MESH:D010509","MESH:D011842","MEDDRA:10037776","MEDDRA:10037777","MEDDRA:10060983","MEDDRA:10060984","MEDDRA:10060985","MEDDRA:10068114","MEDDRA:10075995","NCIT:C173828","NCIT:C173829","NCIT:C4865","SNOMEDCT:3797007","SNOMEDCT:81407003","SNOMEDCT:89988002","medgen:45395","HP:0000700"],"information_content":92.8}
{"id":"MONDO:0006904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phimosis","equivalent_identifiers":["MONDO:0006904","DOID:2712","EFO:1001104","UMLS:C0031538","UMLS:C0345326","MESH:D010688","MEDDRA:10034878","MEDDRA:10043855","NCIT:C26852","NCIT:C27124","SNOMEDCT:198006006","SNOMEDCT:253854008","SNOMEDCT:449826002","medgen:87496","icd11.foundation:184957512","ICD10:N47.1","HP:0001741"],"information_content":92.8}
{"id":"MONDO:0006908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary apoplexy","equivalent_identifiers":["MONDO:0006908","DOID:1129","orphanet:95613","EFO:1001108","UMLS:C0032001","MESH:D010899","MEDDRA:10056447","NCIT:C26853","SNOMEDCT:237701005","medgen:18489","icd11.foundation:1938573221"],"information_content":100.0}
{"id":"MONDO:0006909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary dwarfism","equivalent_identifiers":["MONDO:0006909","EFO:1001109","UMLS:C0013338","UMLS:C0392591","MESH:D004393","MEDDRA:10035083","NCIT:C34555","SNOMEDCT:367460001","SNOMEDCT:7530009","medgen:8506","HP:0000839"],"information_content":92.8}
{"id":"MONDO:0006918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior uveitis","equivalent_identifiers":["MONDO:0006918","DOID:12574","EFO:1001119","UMLS:C0042167","MESH:D015866","MEDDRA:10036370","SNOMEDCT:43363007","medgen:22597","HP:0012123"],"information_content":82.1}
{"id":"MONDO:0006930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudobulbar palsy","equivalent_identifiers":["MONDO:0006930","DOID:12680","EFO:1001131","UMLS:C0033790","MESH:D020828","MEDDRA:10037114","MEDDRA:10052888","NCIT:C129934","SNOMEDCT:7379000","medgen:10989","ICD9:335.23","HP:0007024"],"information_content":100.0}
{"id":"MONDO:0006932","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary edema","equivalent_identifiers":["MONDO:0006932","DOID:11396","EFO:1001134","UMLS:C0034063","MESH:D011654","MEDDRA:10014233","MEDDRA:10014253","MEDDRA:10025084","MEDDRA:10025112","MEDDRA:10030126","MEDDRA:10037375","MEDDRA:10037423","MEDDRA:10037424","MEDDRA:10037426","MEDDRA:10055929","NCIT:C26868","SNOMEDCT:19242006","medgen:11026","ICD10:J81","HP:0100598"],"information_content":92.8}
{"id":"MONDO:0006935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary subvalvular stenosis","equivalent_identifiers":["MONDO:0006935","DOID:8861","EFO:1001137","UMLS:C0034084","MESH:D011662","MEDDRA:10010514","MEDDRA:10022012","NCIT:C34961","SNOMEDCT:204370002","medgen:11030","ICD10:Q24.3","ICD9:746.83","HP:0034348"],"information_content":100.0}
{"id":"MONDO:0006939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyelonephritis","equivalent_identifiers":["MONDO:0006939","DOID:11400","EFO:1001141","UMLS:C0034186","MESH:D011704","MEDDRA:10037596","MEDDRA:10037604","MEDDRA:10037606","NCIT:C34965","SNOMEDCT:45816000","medgen:19590","ICD10:N16","ICD9:590.80","HP:0012330"],"information_content":89.4}
{"id":"MONDO:0006941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rat-bite fever","equivalent_identifiers":["MONDO:0006941","orphanet:31205","EFO:1001144","UMLS:C0034686","MESH:D011906","MEDDRA:10037904","MEDDRA:10037905","MEDDRA:10046131","NCIT:C34971","SNOMEDCT:1685005","medgen:11123","icd11.foundation:1026551291"],"information_content":92.8}
{"id":"MONDO:0006944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aminoaciduria","equivalent_identifiers":["MONDO:0006944","EFO:1001149","UMLS:C0002534","UMLS:C0238621","UMLS:C1167670","UMLS:C4020843","MESH:D000608","MEDDRA:10001939","MEDDRA:10059144","SNOMEDCT:35912001","medgen:254","HP:0003355"],"information_content":68.1}
{"id":"MONDO:0006947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renovascular hypertension","equivalent_identifiers":["MONDO:0006947","DOID:1591","EFO:1001153","UMLS:C0020545","MESH:D006978","MEDDRA:10038562","NCIT:C85044","SNOMEDCT:123799005","medgen:43786","ICD10:I15.0","HP:0100817"],"information_content":95.4}
{"id":"MONDO:0006948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal artery occlusion","equivalent_identifiers":["MONDO:0006948","DOID:8483","EFO:1001154","UMLS:C0035302","MESH:D015356","MEDDRA:10030008","MEDDRA:10038827","NCIT:C34978","SNOMEDCT:232035005","medgen:11208","HP:0025326"],"information_content":89.4}
{"id":"MONDO:0006950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal vasculitis","equivalent_identifiers":["MONDO:0006950","DOID:11563","EFO:1001156","UMLS:C0152026","MESH:D031300","MEDDRA:10038905","MEDDRA:10047131","SNOMEDCT:77628002","medgen:57503","icd11.foundation:1863208483","ICD10:H35.06","ICD9:362.18","HP:0025188"],"information_content":95.4}
{"id":"MONDO:0006951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal vein occlusion","equivalent_identifiers":["MONDO:0006951","DOID:1727","EFO:1001157","UMLS:C0035328","UMLS:C1527411","MESH:D012170","MEDDRA:10030009","MEDDRA:10038907","MEDDRA:10038908","MEDDRA:10043638","NCIT:C34981","SNOMEDCT:1237532002","SNOMEDCT:46085004","medgen:19763","HP:0012636"],"information_content":89.4}
{"id":"MONDO:0006952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinopathy of prematurity","equivalent_identifiers":["MONDO:0006952","DOID:13025","orphanet:90050","EFO:1001158","UMLS:C0035344","MESH:D012178","MEDDRA:10038933","MEDDRA:10038974","NCIT:C34982","SNOMEDCT:415297005","medgen:48438","icd11.foundation:947283385","ICD10:H35.1","ICD9:362.21","HP:0500049"],"information_content":81.3}
{"id":"MONDO:0006962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sebaceous adenocarcinoma","equivalent_identifiers":["MONDO:0006962","DOID:4839","DOID:4840","EFO:1001171","UMLS:C0206684","MESH:D018266","MEDDRA:10068784","NCIT:C40310","SNOMEDCT:307599002","SNOMEDCT:54734006","medgen:64632","HP:0030410"],"information_content":82.6}
{"id":"MONDO:0006964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary hyperparathyroidism","equivalent_identifiers":["MONDO:0006964","DOID:12466","EFO:1001173","UMLS:C0020503","MESH:D006962","MEDDRA:10020708","NCIT:C113335","SNOMEDCT:91478007","medgen:9368","icd11.foundation:1442752937","HP:0000867"],"information_content":88.2}
{"id":"MONDO:0006969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sialadenitis","equivalent_identifiers":["MONDO:0006969","DOID:10303","EFO:1001179","UMLS:C0037023","MESH:D012793","MEDDRA:10040627","MEDDRA:10040628","MEDDRA:10040630","MEDDRA:10075244","NCIT:C115165","NCIT:C26882","SNOMEDCT:42982001","medgen:48657","ICD9:527.2","HP:0031281"],"information_content":92.8}
{"id":"MONDO:0006976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"somatostatinoma","equivalent_identifiers":["MONDO:0006976","DOID:4430","orphanet:97283","EFO:1001187","UMLS:C0037661","MESH:D013005","MEDDRA:10041329","NCIT:C3379","SNOMEDCT:253006001","medgen:52416","icd11.foundation:219879696"],"information_content":85.5}
{"id":"MONDO:0006977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatocele","equivalent_identifiers":["MONDO:0006977","DOID:11997","EFO:1001189","UMLS:C0037859","UMLS:C5442141","MESH:D013088","MEDDRA:10014994","MEDDRA:10041490","NCIT:C120909","NCIT:C3865","SNOMEDCT:43077002","SNOMEDCT:49263001","medgen:20857","icd11.foundation:1907004531","ICD10:N43.4","ICD9:608.1","HP:0030424"],"information_content":100.0}
{"id":"MONDO:0006978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenic infarction","equivalent_identifiers":["MONDO:0006978","DOID:2533","EFO:1001190","UMLS:C0037998","MESH:D013159","MEDDRA:10041648","SNOMEDCT:22996003","medgen:52468","ICD10:D73.5","HP:0034336"],"information_content":100.0}
{"id":"MONDO:0006987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subvalvular aortic stenosis","equivalent_identifiers":["MONDO:0006987","DOID:5805","EFO:1001199","UMLS:C0340375","MESH:D001020","MEDDRA:10042431","NCIT:C85172","SNOMEDCT:204368006","medgen:90950","HP:0001682"],"information_content":92.8}
{"id":"MONDO:0006995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tethered cord","equivalent_identifiers":["MONDO:0006995","DOID:1089","EFO:1001210","UMLS:C0080218","UMLS:C0560648","MEDDRA:10066334","MEDDRA:10077133","NCIT:C99080","SNOMEDCT:249491000119100","SNOMEDCT:70534000","medgen:36387","HP:0002144"],"information_content":100.0}
{"id":"MONDO:0006996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid crisis","equivalent_identifiers":["MONDO:0006996","DOID:12837","EFO:1001212","UMLS:C0040127","MESH:D013958","MEDDRA:10011397","MEDDRA:10043705","MEDDRA:10043773","MEDDRA:10043786","NCIT:C112836","SNOMEDCT:29028009","medgen:11813","icd11.foundation:1215823328","HP:0011782"],"information_content":100.0}
{"id":"MONDO:0007001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tricuspid valve prolapse","equivalent_identifiers":["MONDO:0007001","DOID:5644","EFO:1001218","UMLS:C0040962","MESH:D014263","MEDDRA:10066862","SNOMEDCT:253383003","medgen:11912","icd11.foundation:973833808","HP:0001704"],"information_content":100.0}
{"id":"MONDO:0007016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin A deficiency","equivalent_identifiers":["MONDO:0007016","EFO:1001237","UMLS:C0042842","UMLS:C5848160","MESH:D014802","MEDDRA:10046240","MEDDRA:10047586","NCIT:C85220","SNOMEDCT:72000004","medgen:22668","icd11.foundation:435342452","HP:0004905"],"information_content":95.4}
{"id":"MONDO:0007017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitreous detachment","equivalent_identifiers":["MONDO:0007017","DOID:9726","EFO:1001238","UMLS:C0042907","UMLS:C0423361","MESH:D020255","MEDDRA:10047650","MEDDRA:10058006","NCIT:C50807","SNOMEDCT:247081001","SNOMEDCT:53772007","medgen:140839","HP:0001489"],"information_content":100.0}
{"id":"MONDO:0007029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchio-oto-renal syndrome","equivalent_identifiers":["MONDO:0007029","DOID:14702","OMIM.PS:113650","orphanet:107","UMLS:C0265234","MESH:D019280","MEDDRA:10071135","MEDDRA:10071142","NCIT:C98983","SNOMEDCT:290006","medgen:82693","icd11.foundation:504227287"],"information_content":92.8}
{"id":"MONDO:0007031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial abdominal aortic aneurysm","equivalent_identifiers":["MONDO:0007031","OMIM.PS:100070","orphanet:86","UMLS:C4275172","SNOMEDCT:715364001","medgen:896628","icd11.foundation:556590106"],"information_content":89.4}
{"id":"MONDO:0007032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prune belly","equivalent_identifiers":["MONDO:0007032","DOID:0060889","OMIM:100100","orphanet:2970","EFO:1001790","UMLS:C0033770","UMLS:C1721053","MESH:D011535","MESH:D053716","MEDDRA:10051025","MEDDRA:10051035","MEDDRA:10051036","NCIT:C85033","SNOMEDCT:5187006","SNOMEDCT:710072005","medgen:18718","icd11.foundation:1393408621","ICD10:Q79.4","HP:0004392"],"information_content":100.0}
{"id":"MONDO:0007033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abducens nerve palsy","equivalent_identifiers":["MONDO:0007033","DOID:10865","OMIM:100200","UMLS:C4551519","MEDDRA:10000112","MEDDRA:10040763","MEDDRA:10047640","MEDDRA:10047641","NCIT:C27592","medgen:1645218","icd11.foundation:2004845959"],"information_content":100.0}
{"id":"MONDO:0007034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adams-Oliver syndrome","equivalent_identifiers":["MONDO:0007034","DOID:0060227","OMIM.PS:100300","orphanet:974","UMLS:C0265268","MESH:C538225","MEDDRA:10079369","SNOMEDCT:34748004","medgen:78544","icd11.foundation:745972142"],"information_content":87.2}
{"id":"MONDO:0007035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acanthosis nigricans","equivalent_identifiers":["MONDO:0007035","DOID:3138","EFO:1000660","UMLS:C0000889","UMLS:C0392440","MESH:D000052","MEDDRA:10000350","MEDDRA:10000530","NCIT:C26687","SNOMEDCT:402599005","SNOMEDCT:72129000","medgen:54","icd11.foundation:71488193","ICD10:L83","HP:0000956"],"information_content":92.8}
{"id":"MONDO:0007036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Achard syndrome","equivalent_identifiers":["MONDO:0007036","DOID:6686","OMIM:100700","UMLS:C1332135","MESH:C536012","NCIT:C35809","medgen:272277"],"information_content":100.0}
{"id":"MONDO:0007037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achondroplasia","equivalent_identifiers":["MONDO:0007037","DOID:4480","OMIM:100800","orphanet:15","UMLS:C0001080","MESH:D000130","MEDDRA:10000452","MEDDRA:10000453","NCIT:C34345","SNOMEDCT:86268005","medgen:1289","icd11.foundation:24224082"],"information_content":92.8}
{"id":"MONDO:0007038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Achoo syndrome","equivalent_identifiers":["MONDO:0007038","OMIM:100820","EFO:0007887","UMLS:C1863416","MESH:C535300","medgen:400287"],"information_content":100.0}
{"id":"MONDO:0007041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Apert syndrome","equivalent_identifiers":["MONDO:0007041","OMIM:101200","orphanet:87","UMLS:C0001193","UMLS:C1863389","UMLS:C1863391","MESH:C566327","MESH:D000168","MEDDRA:10002943","NCIT:C99099","SNOMEDCT:205258009","medgen:7858","icd11.foundation:1962779847"],"information_content":95.4}
{"id":"MONDO:0007042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Saethre-Chotzen syndrome","equivalent_identifiers":["MONDO:0007042","DOID:14768","OMIM:101400","orphanet:794","UMLS:C0175699","UMLS:C1863370","MESH:C566325","NCIT:C75034","SNOMEDCT:83015004","medgen:64221","icd11.foundation:2109857109"],"information_content":100.0}
{"id":"MONDO:0007043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pfeiffer syndrome","equivalent_identifiers":["MONDO:0007043","DOID:14705","OMIM:101600","orphanet:710","UMLS:C0220658","MEDDRA:10082289","NCIT:C99100","SNOMEDCT:70410008","medgen:67390","icd11.foundation:1075159878"],"information_content":90.9}
{"id":"MONDO:0007044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acrodysostosis 1 with or without hormone resistance","equivalent_identifiers":["MONDO:0007044","OMIM:101800","UMLS:C3276228","UMLS:C4522319","NCIT:C136464","medgen:477858"],"information_content":100.0}
{"id":"MONDO:0007045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrofacial dysostosis, Catania type","equivalent_identifiers":["MONDO:0007045","DOID:0060384","OMIM:101805","orphanet:1786","UMLS:C2931762","MESH:C538182","SNOMEDCT:720419000","medgen:419487","icd11.foundation:750680130"],"information_content":100.0}
{"id":"MONDO:0007046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary papulotranslucent acrokeratoderma","equivalent_identifiers":["MONDO:0007046","DOID:0060360","OMIM:101840","EFO:1000708","UMLS:C1863343","MESH:C566323","medgen:350144"],"information_content":100.0}
{"id":"MONDO:0007047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"punctate palmoplantar keratoderma type III","equivalent_identifiers":["MONDO:0007047","DOID:0060362","OMIM:101850","orphanet:38","EFO:1000758","UMLS:C0545044","MESH:C535653","SNOMEDCT:111029001","medgen:107467"],"information_content":100.0}
{"id":"MONDO:0007048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrokeratosis verruciformis","equivalent_identifiers":["MONDO:0007048","DOID:0050606","OMIM:101900","orphanet:79151","EFO:1000666","UMLS:C0265971","MEDDRA:10069445","NCIT:C27519","SNOMEDCT:400085009","medgen:75589"],"information_content":100.0}
{"id":"MONDO:0007049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acroleukopathy, symmetric","equivalent_identifiers":["MONDO:0007049","OMIM:102000","UMLS:C1863342","MESH:C566322","medgen:350143"],"information_content":100.0}
{"id":"MONDO:0007050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromegaloid changes, cutis verticis gyrata, and corneal leukoma","equivalent_identifiers":["MONDO:0007050","OMIM:102100","UMLS:C1321495","MESH:C535654","SNOMEDCT:403766000","medgen:231158"],"information_content":100.0}
{"id":"MONDO:0007051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromegaloid facial appearance syndrome","equivalent_identifiers":["MONDO:0007051","OMIM:102150","UMLS:C0796280","MESH:C535655","MEDDRA:10071171","SNOMEDCT:720456009","medgen:167116"],"information_content":100.0}
{"id":"MONDO:0007052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth hormone secreting pituitary adenoma 1","equivalent_identifiers":["MONDO:0007052","DOID:0112009","OMIM:102200","EFO:0004125","UMLS:C1863340","UMLS:C3489630","UMLS:C4521132","UMLS:C4538355","medgen:1618709"],"information_content":100.0}
{"id":"MONDO:0007053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"restless legs syndrome, susceptibility to, 1","equivalent_identifiers":["MONDO:0007053","OMIM:102300","UMLS:C1876177","UMLS:C3888109","MESH:C538443","medgen:360293"],"information_content":100.0}
{"id":"MONDO:0007054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shoulder dimple","equivalent_identifiers":["MONDO:0007054","OMIM:102350","UMLS:C4023704","medgen:869278","HP:0010782"],"information_content":100.0}
{"id":"MONDO:0007055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acromicric dysplasia","equivalent_identifiers":["MONDO:0007055","DOID:0111243","OMIM:102370","orphanet:969","UMLS:C0265287","MESH:C535662","MEDDRA:10083854","SNOMEDCT:254090007","medgen:78549","icd11.foundation:1006372687"],"information_content":100.0}
{"id":"MONDO:0007056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acroosteolysis","equivalent_identifiers":["MONDO:0007056","OMIM:102400","UMLS:C0917990","MESH:D030981","MEDDRA:10000603","NCIT:C35545","SNOMEDCT:27201004","medgen:183017","HP:0009771"],"information_content":79.3}
{"id":"MONDO:0007057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acroosteolysis dominant type","equivalent_identifiers":["MONDO:0007057","DOID:2736","OMIM:102500","orphanet:955","UMLS:C0432286","UMLS:C0917715","UMLS:C1838257","UMLS:C2930971","MESH:C535663","MESH:C537586","MESH:D031845","NCIT:C84745","SNOMEDCT:254148004","SNOMEDCT:63122002","medgen:182961"],"information_content":100.0}
{"id":"MONDO:0007058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acropectorovertebral dysplasia","equivalent_identifiers":["MONDO:0007058","OMIM:102510","orphanet:957","UMLS:C1863307","MESH:C566319","SNOMEDCT:720457000","medgen:400262","icd11.foundation:1013313909"],"information_content":100.0}
{"id":"MONDO:0007059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrorenal syndrome","equivalent_identifiers":["MONDO:0007059","DOID:0060347","OMIM:102520","orphanet:971","UMLS:C3495490","MESH:C563159","SNOMEDCT:720458005","medgen:501193","icd11.foundation:1948375645"],"information_content":95.4}
{"id":"MONDO:0007060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Globozoospermia","equivalent_identifiers":["MONDO:0007060","DOID:0070167","OMIM:102530","UMLS:C0403825","UMLS:C4225503","NCIT:C158500","SNOMEDCT:236818008","medgen:96048","HP:0012205"],"information_content":90.9}
{"id":"MONDO:0007062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adactylia, unilateral","equivalent_identifiers":["MONDO:0007062","OMIM:102650","orphanet:973","UMLS:C0220660","MESH:C562417","medgen:113098"],"information_content":100.0}
{"id":"MONDO:0007064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency","equivalent_identifiers":["MONDO:0007064","DOID:5810","OMIM:102700","orphanet:277","UMLS:C0268124","UMLS:C0392607","UMLS:C1863236","UMLS:C1863239","MESH:C531816","MEDDRA:10066367","MEDDRA:10066372","NCIT:C3962","SNOMEDCT:22406001","SNOMEDCT:44940001","medgen:354935","ICD10:D81.30"],"information_content":100.0}
{"id":"MONDO:0007067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate kinase hyperactivity","equivalent_identifiers":["MONDO:0007067","OMIM:102900","EFO:0005840","UMLS:C1863224","MESH:C566310","medgen:350114"],"information_content":100.0}
{"id":"MONDO:0007068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenylosuccinate lyase deficiency","equivalent_identifiers":["MONDO:0007068","DOID:0050762","OMIM:103050","orphanet:46","UMLS:C0268126","MESH:C538235","MEDDRA:10081681","SNOMEDCT:15285008","medgen:78641","icd11.foundation:1725611919"],"information_content":100.0}
{"id":"MONDO:0007070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adiposis dolorosa","equivalent_identifiers":["MONDO:0007070","DOID:3928","OMIM:103200","orphanet:36397","EFO:1000667","UMLS:C0001529","MESH:D000274","MEDDRA:10001294","MEDDRA:10012421","NCIT:C84540","SNOMEDCT:71404003","medgen:1757"],"information_content":100.0}
{"id":"MONDO:0007072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ADULT syndrome","equivalent_identifiers":["MONDO:0007072","DOID:0050601","OMIM:103285","orphanet:978","UMLS:C1863204","MESH:C538052","SNOMEDCT:720464003","medgen:400232","icd11.foundation:1445741645"],"information_content":100.0}
{"id":"MONDO:0007073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypoglossia-hypodactyly syndrome","equivalent_identifiers":["MONDO:0007073","OMIM:103300","orphanet:989","UMLS:C0595985","UMLS:C1863203","MESH:C535629","MESH:C566308","SNOMEDCT:205817005","SNOMEDCT:35031005","medgen:354928"],"information_content":100.0}
{"id":"MONDO:0007075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alacrima, congenital, autosomal dominant","equivalent_identifiers":["MONDO:0007075","OMIM:103420","UMLS:C1863199","UMLS:C4310836","MESH:C566307","medgen:934803"],"information_content":100.0}
{"id":"MONDO:0007077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tietz syndrome","equivalent_identifiers":["MONDO:0007077","DOID:0090002","OMIM:103500","orphanet:42665","UMLS:C0391816","MESH:C536919","SNOMEDCT:403805009","medgen:98213"],"information_content":100.0}
{"id":"MONDO:0007078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoparathyroidism type 1A","equivalent_identifiers":["MONDO:0007078","DOID:0080053","OMIM:103580","orphanet:79443","UMLS:C2931404","UMLS:C3494506","MESH:C537045","NCIT:C118434","NCIT:C129721","SNOMEDCT:58833000","medgen:488447","icd11.foundation:1513156369"],"information_content":92.8}
{"id":"MONDO:0007079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alcohol dependence","equivalent_identifiers":["MONDO:0007079","DOID:0050741","OMIM:103780","EFO:0009458","UMLS:C0001956","UMLS:C0001973","UMLS:C0679287","UMLS:C0679288","UMLS:C0679289","UMLS:C0679290","UMLS:C0841000","UMLS:C3650363","UMLS:C3887915","UMLS:C4236928","UMLS:C4236929","UMLS:C4268204","UMLS:C4268205","UMLS:C4268206","UMLS:C4268207","UMLS:C4268208","UMLS:C4268209","UMLS:C4268210","UMLS:C4268211","UMLS:C4268212","UMLS:C4268213","UMLS:C4509034","UMLS:C4509035","UMLS:C4509036","UMLS:C4509037","UMLS:C4536264","MEDDRA:10001585","MEDDRA:10001586","MEDDRA:10001590","MEDDRA:10001594","MEDDRA:10001639","MEDDRA:10013037","MEDDRA:10049894","MEDDRA:10063499","MEDDRA:10080021","NCIT:C93040","SNOMEDCT:1336085007","SNOMEDCT:284591009","SNOMEDCT:66590003","SNOMEDCT:7200002","medgen:1801","icd11.foundation:1580466198","KEGG.DISEASE:05034","HP:0030955"],"information_content":95.4}
{"id":"MONDO:0007080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucocorticoid-remediable aldosteronism","equivalent_identifiers":["MONDO:0007080","DOID:14080","OMIM:103900","orphanet:403","UMLS:C3838731","MESH:C563177","NCIT:C123248","NCIT:C127161","SNOMEDCT:703232003","medgen:824577","ICD10:E26.02","ICD9:255.11"],"information_content":100.0}
{"id":"MONDO:0007082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia areata 1","equivalent_identifiers":["MONDO:0007082","OMIM:104000","UMLS:C1863094","MESH:C566303","medgen:400208"],"information_content":100.0}
{"id":"MONDO:0007083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant palmoplantar keratoderma and congenital alopecia","equivalent_identifiers":["MONDO:0007083","DOID:0111244","OMIM:104100","orphanet:1010","UMLS:C4304669","SNOMEDCT:719518004","medgen:930338","icd11.foundation:1745113656"],"information_content":100.0}
{"id":"MONDO:0007084","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial focal alopecia","equivalent_identifiers":["MONDO:0007084","OMIM:104110","UMLS:C1863092","MESH:C566301","medgen:350835"],"information_content":100.0}
{"id":"MONDO:0007085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia-epilepsy-pyorrhea-intellectual disability syndrome","equivalent_identifiers":["MONDO:0007085","OMIM:104130","orphanet:1008","UMLS:C1863090","MESH:C537057","SNOMEDCT:720980004","medgen:350833"],"information_content":100.0}
{"id":"MONDO:0007086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Alport syndrome","equivalent_identifiers":["MONDO:0007086","DOID:0110032","OMIM:104200","orphanet:88918","UMLS:C1567743","UMLS:C5882663","SNOMEDCT:717766000","medgen:1848787"],"information_content":100.0}
{"id":"MONDO:0007087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alternating hemiplegia of childhood 1","equivalent_identifiers":["MONDO:0007087","OMIM:104290","UMLS:C3549447","medgen:762361"],"information_content":100.0}
{"id":"MONDO:0007088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease type 1","equivalent_identifiers":["MONDO:0007088","DOID:0080348","OMIM:104300","UMLS:C1863052","UMLS:C1863053","UMLS:C3549448","MESH:C536594","MESH:C566299","NCIT:C146894","medgen:354892"],"information_content":100.0}
{"id":"MONDO:0007089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 2","equivalent_identifiers":["MONDO:0007089","DOID:0110035","OMIM:104310","UMLS:C1863051","MESH:C536595","medgen:400197","ICD10:G30"],"information_content":100.0}
{"id":"MONDO:0007090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amastia, bilateral, with ureteral triplication and dysmorphism","equivalent_identifiers":["MONDO:0007090","OMIM:104350","UMLS:C1863015","MESH:C566295","medgen:354882"],"information_content":100.0}
{"id":"MONDO:0007091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelia and terminal transverse hemimelia","equivalent_identifiers":["MONDO:0007091","OMIM:104400","UMLS:C1863014","MESH:C566294","medgen:400186"],"information_content":100.0}
{"id":"MONDO:0007092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 1B","equivalent_identifiers":["MONDO:0007092","DOID:0110052","OMIM:104500","UMLS:C0399368","MESH:C562879","SNOMEDCT:234961008","medgen:97993","ICD10:K00.5"],"information_content":100.0}
{"id":"MONDO:0007093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism","equivalent_identifiers":["MONDO:0007093","DOID:0110053","OMIM:104510","orphanet:100034","UMLS:C1863012","MESH:C566293","medgen:350816"],"information_content":100.0}
{"id":"MONDO:0007094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 1A","equivalent_identifiers":["MONDO:0007094","DOID:0110054","OMIM:104530","UMLS:C4011403","MESH:C538240","medgen:859840"],"information_content":100.0}
{"id":"MONDO:0007095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ameloonychohypohidrotic syndrome","equivalent_identifiers":["MONDO:0007095","OMIM:104570","orphanet:1028","UMLS:C1863006","MESH:C538245","SNOMEDCT:715404000","medgen:400184"],"information_content":100.0}
{"id":"MONDO:0007097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Finnish type amyloidosis","equivalent_identifiers":["MONDO:0007097","DOID:0050637","OMIM:105120","orphanet:85448","UMLS:C1622345","MESH:C537459","SNOMEDCT:419398009","medgen:301243"],"information_content":100.0}
{"id":"MONDO:0007098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ACys amyloidosis","equivalent_identifiers":["MONDO:0007098","DOID:0070027","OMIM:105150","orphanet:100008","UMLS:C1527338","SNOMEDCT:703220002","medgen:279656"],"information_content":100.0}
{"id":"MONDO:0007099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial visceral amyloidosis","equivalent_identifiers":["MONDO:0007099","DOID:0050636","OMIM:105200","orphanet:85450","UMLS:C0268389","MESH:C538249","SNOMEDCT:66451004","medgen:82799"],"information_content":89.4}
{"id":"MONDO:0007100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial amyloid neuropathy","equivalent_identifiers":["MONDO:0007100","DOID:0050638","OMIM.PS:105210","orphanet:271861","EFO:0004129","UMLS:C0206245","MESH:C567782","MESH:D028227","MEDDRA:10019889","MEDDRA:10057949","NCIT:C84554","SNOMEDCT:42295001","medgen:104815","icd11.foundation:807065795","ICD10:E85.82"],"information_content":87.2}
{"id":"MONDO:0007101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyloidosis IX","equivalent_identifiers":["MONDO:0007101","OMIM.PS:105250","orphanet:353220","UMLS:C1304242","MESH:C562643","SNOMEDCT:402463003","medgen:725603"],"information_content":90.9}
{"id":"MONDO:0007102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic dystonic paraplegia","equivalent_identifiers":["MONDO:0007102","OMIM:105300","UMLS:C1862956","MESH:C566292","medgen:354871"],"information_content":100.0}
{"id":"MONDO:0007103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 1","equivalent_identifiers":["MONDO:0007103","DOID:0060193","OMIM:105400","UMLS:C1862939","UMLS:C3542025","MESH:C531617","NCIT:C168749","SNOMEDCT:1201863001","medgen:400169","ICD10:G12.2"],"information_content":100.0}
{"id":"MONDO:0007104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis-parkinsonism-dementia complex","equivalent_identifiers":["MONDO:0007104","DOID:0111246","OMIM:105500","orphanet:90020","UMLS:C0543859","SNOMEDCT:838276009","medgen:107775"],"information_content":100.0}
{"id":"MONDO:0007105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontotemporal dementia and/or amyotrophic lateral sclerosis 1","equivalent_identifiers":["MONDO:0007105","DOID:0060213","OMIM:105550","UMLS:C5779877","NCIT:C168756","medgen:1830423"],"information_content":100.0}
{"id":"MONDO:0007108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anal canal carcinoma","equivalent_identifiers":["MONDO:0007108","DOID:6126","OMIM:105580","orphanet:424013","UMLS:C0563211","NCIT:C7489","SNOMEDCT:285310000","medgen:107559"],"information_content":76.4}
{"id":"MONDO:0007109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital dyserythropoietic anemia type 3","equivalent_identifiers":["MONDO:0007109","DOID:0111399","OMIM:105600","orphanet:98870","UMLS:C0271934","UMLS:C1862933","UMLS:C5676874","MESH:C566285","SNOMEDCT:26409005","medgen:1801596"],"information_content":100.0}
{"id":"MONDO:0007110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 1","equivalent_identifiers":["MONDO:0007110","DOID:0111895","OMIM:105650","UMLS:C2676137","MESH:C567302","NCIT:C176911","medgen:390966"],"information_content":100.0}
{"id":"MONDO:0007111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aneurysm, intracranial berry type 1","equivalent_identifiers":["MONDO:0007111","DOID:0080964","OMIM:105800","UMLS:C1862932","MESH:C566284","medgen:354864"],"information_content":100.0}
{"id":"MONDO:0007112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interventricular septum aneurysm","equivalent_identifiers":["MONDO:0007112","OMIM:105805","orphanet:99092","UMLS:C1387721","MESH:C563239","medgen:234648"],"information_content":100.0}
{"id":"MONDO:0007113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Angelman syndrome","equivalent_identifiers":["MONDO:0007113","DOID:1932","OMIM:105830","orphanet:72","UMLS:C0162635","UMLS:C2930801","UMLS:C5574895","MESH:C531619","MESH:D017204","MEDDRA:10049004","MEDDRA:10052652","NCIT:C75462","SNOMEDCT:76880004","medgen:58144","icd11.foundation:1106558408","ICD10:Q93.51"],"information_content":89.4}
{"id":"MONDO:0007114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Angel-shaped phalango-epiphyseal dysplasia","equivalent_identifiers":["MONDO:0007114","OMIM:105835","orphanet:63442","UMLS:C1739384","MESH:C536361","MEDDRA:10066017","MEDDRA:10066018","SNOMEDCT:720984008","medgen:366028","icd11.foundation:1095628863"],"information_content":100.0}
{"id":"MONDO:0007115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioma serpiginosum, autosomal dominant","inheritance":"Sporadic","equivalent_identifiers":["MONDO:0007115","OMIM:106050","UMLS:C1970130","MESH:C536365","medgen:370186"],"information_content":100.0}
{"id":"MONDO:0007116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary neurocutaneous angioma","equivalent_identifiers":["MONDO:0007116","OMIM:106070","orphanet:1062","UMLS:C1275084","UMLS:C1862897","UMLS:C1862898","MESH:C536364","MESH:C566282","MESH:C566283","SNOMEDCT:403775003","medgen:226898","icd11.foundation:182579434"],"information_content":100.0}
{"id":"MONDO:0007118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated anhidrosis with normal sweat glands","equivalent_identifiers":["MONDO:0007118","DOID:0060603","OMIM:106190","orphanet:468666","UMLS:C5568836","SNOMEDCT:1187178004","medgen:1800259"],"information_content":100.0}
{"id":"MONDO:0007119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated aniridia","equivalent_identifiers":["MONDO:0007119","OMIM.PS:106210","orphanet:250923"],"information_content":90.9}
{"id":"MONDO:0007120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia-absent patella syndrome","equivalent_identifiers":["MONDO:0007120","OMIM:106220","orphanet:1069","UMLS:C1862868","MESH:C566281","SNOMEDCT:720467005","medgen:400149"],"information_content":100.0}
{"id":"MONDO:0007121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia, microcornea, and spontaneously Reabsorbed cataract","equivalent_identifiers":["MONDO:0007121","OMIM:106230","UMLS:C1862867","MESH:C566280","medgen:350777"],"information_content":100.0}
{"id":"MONDO:0007122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anisocoria","equivalent_identifiers":["MONDO:0007122","OMIM:106240","UMLS:C0003079","MESH:D015875","MEDDRA:10002535","MEDDRA:10037517","MEDDRA:10037538","MEDDRA:10045522","SNOMEDCT:13045009","medgen:1944","HP:0009916"],"information_content":100.0}
{"id":"MONDO:0007123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ankyloblepharon","equivalent_identifiers":["MONDO:0007123","OMIM:106250","orphanet:1072","UMLS:C0339182","UMLS:C1302999","UMLS:C1862866","MESH:C536373","SNOMEDCT:193953008","SNOMEDCT:400952003","SNOMEDCT:783204009","medgen:400148","HP:0009755"],"information_content":100.0}
{"id":"MONDO:0007124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ankyloblepharon-ectodermal defects-cleft lip/palate syndrome","equivalent_identifiers":["MONDO:0007124","DOID:0090119","OMIM:106260","orphanet:1071","UMLS:C0406709","MESH:C535847","MEDDRA:10080940","MEDDRA:10083875","MEDDRA:10083887","NCIT:C157576","SNOMEDCT:55821006","medgen:98032"],"information_content":95.4}
{"id":"MONDO:0007125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ankyloglossia","equivalent_identifiers":["MONDO:0007125","DOID:0060604","OMIM:106280","UMLS:C0152415","UMLS:C4759698","MESH:C562396","MESH:D000072676","MEDDRA:10043987","MEDDRA:10049244","MEDDRA:10088611","NCIT:C124538","SNOMEDCT:67787004","medgen:56288","icd11.foundation:1838543063","ICD10:Q38.1","HP:0010296"],"information_content":100.0}
{"id":"MONDO:0007126","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloarthropathy, susceptibility to, 1","equivalent_identifiers":["MONDO:0007126","DOID:0080603","OMIM:106300","UMLS:C1862852","medgen:400145"],"information_content":100.0}
{"id":"MONDO:0007127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse idiopathic skeletal hyperostosis","equivalent_identifiers":["MONDO:0007127","DOID:6652","OMIM:106400","orphanet:2206","EFO:0007236","UMLS:C0020498","MESH:D004057","MEDDRA:10002558","MEDDRA:10054031","MEDDRA:10054040","MEDDRA:10054080","MEDDRA:10080059","NCIT:C84671","SNOMEDCT:31487001","medgen:5695","ICD10:M48.1","ICD9:721.6"],"information_content":100.0}
{"id":"MONDO:0007128","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"annular erythema","equivalent_identifiers":["MONDO:0007128","OMIM:106500","UMLS:C0234906","MESH:C562461","MEDDRA:10015153","SNOMEDCT:200920000","medgen:68608","icd11.foundation:958930318"],"information_content":100.0}
{"id":"MONDO:0007129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth agenesis, selective, 1","equivalent_identifiers":["MONDO:0007129","OMIM:106600","UMLS:C3489529","medgen:483482"],"information_content":100.0}
{"id":"MONDO:0007130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital total pulmonary venous return anomaly","equivalent_identifiers":["MONDO:0007130","DOID:4297","OMIM:106700","orphanet:99125","UMLS:C4551903","UMLS:C4551904","MEDDRA:10044081","NCIT:C98585","SNOMEDCT:111323005","medgen:1648157","icd11.foundation:1532925990","HP:0005160"],"information_content":89.4}
{"id":"MONDO:0007131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anonychia with flexural pigmentation","equivalent_identifiers":["MONDO:0007131","OMIM:106750","orphanet:69125","UMLS:C1862844","MESH:C566278","medgen:400144"],"information_content":100.0}
{"id":"MONDO:0007132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anonychia-ectrodactyly","equivalent_identifiers":["MONDO:0007132","OMIM:106900","UMLS:C1862843","MESH:C566277","medgen:354849"],"information_content":100.0}
{"id":"MONDO:0007134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cooks syndrome","equivalent_identifiers":["MONDO:0007134","OMIM:106995","orphanet:1487","UMLS:C1862841","MESH:C537766","SNOMEDCT:720747002","medgen:354848"],"information_content":100.0}
{"id":"MONDO:0007135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonsyndromic congenital nail disorder 6","equivalent_identifiers":["MONDO:0007135","DOID:0080084","OMIM:107000","UMLS:C3275544","medgen:477175"],"information_content":100.0}
{"id":"MONDO:0007136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary anorectal anomalies","equivalent_identifiers":["MONDO:0007136","OMIM:107100","UMLS:C3495676","MESH:D000071056","MEDDRA:10082798","SNOMEDCT:33225004","medgen:501217","HP:0012732"],"information_content":76.9}
{"id":"MONDO:0007137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated congenital anosmia","equivalent_identifiers":["MONDO:0007137","OMIM:107200","orphanet:88620","UMLS:C0393778","MESH:C535983","MEDDRA:10079876","SNOMEDCT:230502003","medgen:95992","icd11.foundation:1603572540"],"information_content":100.0}
{"id":"MONDO:0007138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior segment dysgenesis 1","equivalent_identifiers":["MONDO:0007138","DOID:0080606","OMIM:107250","UMLS:C4551992","medgen:1631197"],"information_content":100.0}
{"id":"MONDO:0007142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Townes syndrome","equivalent_identifiers":["MONDO:0007142","DOID:0050887","OMIM.PS:107480","orphanet:857","UMLS:C0265246","MESH:C536974","NCIT:C99085","SNOMEDCT:24750000","medgen:75555","icd11.foundation:66554749"],"information_content":92.8}
{"id":"MONDO:0007143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic arch anomaly-facial dysmorphism-intellectual disability syndrome","equivalent_identifiers":["MONDO:0007143","OMIM:107500","orphanet:1110","UMLS:C1862682","MESH:C537785","medgen:350734"],"information_content":100.0}
{"id":"MONDO:0007144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic arch interruption, facial palsy, and retinal coloboma","equivalent_identifiers":["MONDO:0007144","OMIM:107550","UMLS:C1862681","MESH:C566271","medgen:350733"],"information_content":100.0}
{"id":"MONDO:0007145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital scar","equivalent_identifiers":["MONDO:0007145","DOID:0080661","OMIM:107600","orphanet:1114","UMLS:C0265989","UMLS:C0282160","UMLS:C2931779","MEDDRA:10002963","NCIT:C98822","SNOMEDCT:254237003","SNOMEDCT:35484002","SNOMEDCT:74223008","medgen:79390","icd11.foundation:350175828","HP:0001057"],"information_content":87.2}
{"id":"MONDO:0007147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obstructive sleep apnea syndrome","equivalent_identifiers":["MONDO:0007147","DOID:0050848","OMIM:107650","EFO:0003918","UMLS:C0520679","MESH:D020181","MEDDRA:10029983","MEDDRA:10055577","MEDDRA:10085837","MEDDRA:10085844","MEDDRA:10090132","MEDDRA:10090133","NCIT:C116337","NCIT:C27168","SNOMEDCT:78275009","medgen:101045","ICD10:G47.33","ICD9:327.23","HP:0002870"],"information_content":95.4}
{"id":"MONDO:0007148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"appendicitis, proneness to","equivalent_identifiers":["MONDO:0007148","OMIM:107700","UMLS:C1862632","medgen:400099"],"information_content":100.0}
{"id":"MONDO:0007150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arcus senilis","equivalent_identifiers":["MONDO:0007150","DOID:11342","OMIM:107800","EFO:1000818","UMLS:C0003742","UMLS:C0339268","MESH:D001112","MEDDRA:10003082","MEDDRA:10058651","MEDDRA:10086627","SNOMEDCT:111522004","SNOMEDCT:231924000","SNOMEDCT:231925004","medgen:8179","icd11.foundation:2142011301","ICD10:H18.41","HP:0001084"],"information_content":100.0}
{"id":"MONDO:0007151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arms, malformation of","equivalent_identifiers":["MONDO:0007151","OMIM:107900","UMLS:C1862534","MESH:C566258","medgen:350694"],"information_content":100.0}
{"id":"MONDO:0007152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 1","equivalent_identifiers":["MONDO:0007152","DOID:0110070","OMIM:107970","UMLS:C1862511","UMLS:C1862512","MESH:C566254","MESH:C566255","medgen:349530","ICD10:Q24.8"],"information_content":100.0}
{"id":"MONDO:0007153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arteries, anomalies of","equivalent_identifiers":["MONDO:0007153","OMIM:108000","UMLS:C1876179","medgen:360295"],"information_content":100.0}
{"id":"MONDO:0007154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arteriovenous malformations of the brain","equivalent_identifiers":["MONDO:0007154","DOID:0060688","OMIM:108010","orphanet:46724","UMLS:C0007772","UMLS:C0917804","UMLS:C2676095","MESH:D002538","MEDDRA:10056371","NCIT:C2936","SNOMEDCT:234142008","medgen:214590","icd11.foundation:153256729","ICD10:Q28.2","HP:0002408"],"information_content":100.0}
{"id":"MONDO:0007156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sacroiliitis","equivalent_identifiers":["MONDO:0007156","OMIM:108100","UMLS:C0574960","UMLS:C0748473","MESH:C563037","MESH:D058566","MEDDRA:10039361","SNOMEDCT:55146009","medgen:148186","HP:0012317"],"information_content":100.0}
{"id":"MONDO:0007157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, distal, type 1A","equivalent_identifiers":["MONDO:0007157","DOID:0111597","OMIM:108120","UMLS:C0220662","MESH:C535378","SNOMEDCT:715314008","medgen:113099"],"information_content":100.0}
{"id":"MONDO:0007158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome","equivalent_identifiers":["MONDO:0007158","DOID:0111608","OMIM:108145","orphanet:1154","UMLS:C1862472","MESH:C537737","SNOMEDCT:715217004","medgen:350678"],"information_content":100.0}
{"id":"MONDO:0007159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis-like hand anomaly-sensorineural deafness syndrome","equivalent_identifiers":["MONDO:0007159","DOID:0111609","OMIM:108200","orphanet:1144","UMLS:C1862471","MESH:C535386","SNOMEDCT:720515009","medgen:350677"],"information_content":100.0}
{"id":"MONDO:0007160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stickler syndrome type 1","equivalent_identifiers":["MONDO:0007160","DOID:0080676","OMIM:108300","orphanet:90653","UMLS:C2020284","MESH:C537492","NCIT:C168733","SNOMEDCT:1010668008","medgen:810955","icd11.foundation:203625278"],"information_content":95.4}
{"id":"MONDO:0007161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 2","equivalent_identifiers":["MONDO:0007161","DOID:0070164","OMIM:108420","UMLS:C1862459","medgen:400056"],"information_content":100.0}
{"id":"MONDO:0007163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic ataxia type 2","equivalent_identifiers":["MONDO:0007163","DOID:0050990","OMIM:108500","orphanet:97","UMLS:C1720416","MESH:C535506","NCIT:C202603","SNOMEDCT:420932006","medgen:314039"],"information_content":100.0}
{"id":"MONDO:0007164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia 1","equivalent_identifiers":["MONDO:0007164","DOID:0050772","OMIM:108600","orphanet:251282","UMLS:C1970107","MESH:C566993","SNOMEDCT:784380009","medgen:409988"],"information_content":100.0}
{"id":"MONDO:0007165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia 7","equivalent_identifiers":["MONDO:0007165","DOID:0050945","OMIM:108650","orphanet:1182","UMLS:C1862441","MESH:C566247","SNOMEDCT:763669001","medgen:354750"],"information_content":100.0}
{"id":"MONDO:0007166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia with fasciculations","equivalent_identifiers":["MONDO:0007166","OMIM:108700","UMLS:C1862440","MESH:C566246","medgen:400052"],"information_content":100.0}
{"id":"MONDO:0007167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atelosteogenesis type I","equivalent_identifiers":["MONDO:0007167","OMIM:108720","orphanet:1190","UMLS:C0265283","MESH:C535396","SNOMEDCT:725141006","medgen:82701","icd11.foundation:449799342"],"information_content":100.0}
{"id":"MONDO:0007168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atelosteogenesis type III","equivalent_identifiers":["MONDO:0007168","OMIM:108721","orphanet:56305","UMLS:C3668942","MESH:C579928","SNOMEDCT:725142004","medgen:777149","icd11.foundation:1997882528"],"information_content":100.0}
{"id":"MONDO:0007169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atherosclerosis susceptibility","equivalent_identifiers":["MONDO:0007169","OMIM:108725","UMLS:C1531719","SNOMEDCT:413596002","medgen:283903"],"information_content":100.0}
{"id":"MONDO:0007170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atresia of external auditory canal and conductive deafness","equivalent_identifiers":["MONDO:0007170","OMIM:108760","UMLS:C3502361","medgen:502760"],"information_content":100.0}
{"id":"MONDO:0007171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial standstill 1","equivalent_identifiers":["MONDO:0007171","DOID:0080662","OMIM:108770","UMLS:C1838539","UMLS:C4551959","medgen:1646392"],"information_content":100.0}
{"id":"MONDO:0007172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 1","equivalent_identifiers":["MONDO:0007172","DOID:0110106","OMIM:108800","UMLS:C1862389","UMLS:C1862392","MESH:C566239","MESH:C566241","medgen:349495","ICD10:Q21.1"],"information_content":100.0}
{"id":"MONDO:0007173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 7","equivalent_identifiers":["MONDO:0007173","DOID:0110112","OMIM:108900","orphanet:1479","UMLS:C3276096","medgen:477726"],"information_content":100.0}
{"id":"MONDO:0007174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lown-Ganong-Levine syndrome","equivalent_identifiers":["MONDO:0007174","DOID:13087","OMIM:108950","orphanet:844","UMLS:C0024054","UMLS:C1862387","MESH:C566237","MESH:D008151","MEDDRA:10024984","SNOMEDCT:55475008","medgen:354734","icd11.foundation:414532162","ICD10:I45.6","ICD9:426.81"],"information_content":100.0}
{"id":"MONDO:0007176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"helicoid peripapillary chorioretinal degeneration","equivalent_identifiers":["MONDO:0007176","DOID:0111228","OMIM:108985","orphanet:86813","UMLS:C1862382","MESH:C566236","SNOMEDCT:724384008","medgen:354733","icd11.foundation:896652469"],"information_content":100.0}
{"id":"MONDO:0007177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"auriculoosteodysplasia","equivalent_identifiers":["MONDO:0007177","OMIM:109000","orphanet:114","UMLS:C1862381","MESH:C538271","medgen:400038"],"information_content":100.0}
{"id":"MONDO:0007178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aurocephalosyndactyly","equivalent_identifiers":["MONDO:0007178","OMIM:109050","UMLS:C1862380","MESH:C566235","medgen:354732","icd11.foundation:1849836237"],"information_content":100.0}
{"id":"MONDO:0007179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Autoimmunity","equivalent_identifiers":["MONDO:0007179","DOID:417","OMIM:109100","EFO:0005809","UMLS:C0003089","UMLS:C0004364","UMLS:C0004368","MESH:D001327","MESH:D015551","MEDDRA:10003815","MEDDRA:10003816","MEDDRA:10061664","MEDDRA:10087821","NCIT:C2889","SNOMEDCT:4301008","SNOMEDCT:85828009","medgen:2135","ICD9:720","HP:0002960"],"information_content":58.2}
{"id":"MONDO:0007180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities","equivalent_identifiers":["MONDO:0007180","OMIM:109120","UMLS:C1862373","MESH:C566234","medgen:349489"],"information_content":100.0}
{"id":"MONDO:0007181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"axial osteomalacia","equivalent_identifiers":["MONDO:0007181","DOID:0080039","OMIM:109130","UMLS:C1862372","MESH:C537791","medgen:354730"],"information_content":100.0}
{"id":"MONDO:0007182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Machado-Joseph disease","equivalent_identifiers":["MONDO:0007182","DOID:1440","OMIM:109150","orphanet:98757","UMLS:C0024408","MESH:D017827","NCIT:C84830","SNOMEDCT:91952008","medgen:9841"],"information_content":88.2}
{"id":"MONDO:0007184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia, androgenetic, 1","equivalent_identifiers":["MONDO:0007184","OMIM:109200","UMLS:C4049090","medgen:886756"],"information_content":100.0}
{"id":"MONDO:0007185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Banki syndrome","equivalent_identifiers":["MONDO:0007185","OMIM:109300","orphanet:1228","UMLS:C1862319","MESH:C566228","SNOMEDCT:733093004","medgen:350648"],"information_content":100.0}
{"id":"MONDO:0007186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heartburn","equivalent_identifiers":["MONDO:0007186","DOID:8534","OMIM:109350","EFO:0003948","UMLS:C0017168","UMLS:C0018834","UMLS:C3813607","UMLS:C4317146","MESH:D005764","MESH:D006356","MEDDRA:10015389","MEDDRA:10017884","MEDDRA:10017885","MEDDRA:10017924","MEDDRA:10018203","MEDDRA:10019326","MEDDRA:10030182","MEDDRA:10037676","MEDDRA:10066874","MEDDRA:10088006","NCIT:C113396","NCIT:C26781","NCIT:C34670","NCIT:C92560","SNOMEDCT:16331000","SNOMEDCT:235595009","SNOMEDCT:698065002","SNOMEDCT:722884003","medgen:6553","ICD10:K21.9","ICD9:530.81","HP:0002020"],"information_content":74.7}
{"id":"MONDO:0007188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary basilar invagination","equivalent_identifiers":["MONDO:0007188","OMIM:109500","orphanet:2285","UMLS:C1862299","MESH:C566226","medgen:400018"],"information_content":100.0}
{"id":"MONDO:0007191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Behcet disease","equivalent_identifiers":["MONDO:0007191","DOID:13241","OMIM:109650","orphanet:117","EFO:0003780","UMLS:C0004943","MESH:D001528","MEDDRA:10004211","MEDDRA:10004212","MEDDRA:10004213","NCIT:C34416","SNOMEDCT:310701003","medgen:2568","icd11.foundation:1668927157","ICD10:M35.2","ICD9:136.1"],"information_content":100.0}
{"id":"MONDO:0007193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary biliary cholangitis 1","equivalent_identifiers":["MONDO:0007193","DOID:0070358","OMIM:109720","UMLS:C4551595","medgen:1642459"],"information_content":100.0}
{"id":"MONDO:0007194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial bicuspid aortic valve","equivalent_identifiers":["MONDO:0007194","DOID:0080332","OMIM.PS:109730","orphanet:402075","UMLS:C4749284","SNOMEDCT:770435005","medgen:1670287"],"information_content":90.9}
{"id":"MONDO:0007197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bladder diverticulum","equivalent_identifiers":["MONDO:0007197","DOID:11353","OMIM:109820","UMLS:C0156273","MESH:C562406","MEDDRA:10005038","MEDDRA:10013565","NCIT:C160155","SNOMEDCT:197866008","medgen:57625","ICD10:N32.3","ICD9:596.3","HP:0000015"],"information_content":92.8}
{"id":"MONDO:0007198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ascher syndrome","equivalent_identifiers":["MONDO:0007198","OMIM:109900","orphanet:1253","UMLS:C0339085","MESH:C562742","SNOMEDCT:28599006","medgen:137910","icd11.foundation:1063203220"],"information_content":100.0}
{"id":"MONDO:0007199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharochalasis, superior","equivalent_identifiers":["MONDO:0007199","OMIM:110000","UMLS:C1862275","MESH:C566223","medgen:349465"],"information_content":100.0}
{"id":"MONDO:0007200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharonasofacial malformation syndrome","equivalent_identifiers":["MONDO:0007200","OMIM:110050","orphanet:1252","UMLS:C0796197","MESH:C536303","SNOMEDCT:717913006","medgen:163226"],"information_content":100.0}
{"id":"MONDO:0007201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BPES type I","equivalent_identifiers":["MONDO:0007201","DOID:14778","OMIM:110100","orphanet:126","UMLS:C0220663","UMLS:C1862260","UMLS:C1862261","UMLS:C1862262","UMLS:C1862263","UMLS:C1862264","MESH:C562419","MESH:C566222","MEDDRA:10081258","MEDDRA:10081259","MEDDRA:10081260","MEDDRA:10081261","SNOMEDCT:715391004","medgen:66312"],"information_content":88.2}
{"id":"MONDO:0007202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharoptosis-myopia-ectopia lentis syndrome","equivalent_identifiers":["MONDO:0007202","OMIM:110150","orphanet:1259","UMLS:C1862259","UMLS:C4303549","MESH:C536236","SNOMEDCT:717915004","medgen:400006"],"information_content":100.0}
{"id":"MONDO:0007204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cole-Carpenter syndrome 1","equivalent_identifiers":["MONDO:0007204","OMIM:112240","UMLS:C4317154","medgen:1374755"],"information_content":100.0}
{"id":"MONDO:0007205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diaphyseal medullary stenosis-bone malignancy syndrome","equivalent_identifiers":["MONDO:0007205","DOID:0080664","OMIM:112250","orphanet:85182","UMLS:C1862177","MESH:C536169","NCIT:C122660","medgen:350613"],"information_content":100.0}
{"id":"MONDO:0007206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone pain, periodic","equivalent_identifiers":["MONDO:0007206","OMIM:112270","UMLS:C1862176","medgen:350612"],"information_content":100.0}
{"id":"MONDO:0007207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Böök syndrome","equivalent_identifiers":["MONDO:0007207","OMIM:112300","orphanet:1262","UMLS:C0457014","MESH:C562993","SNOMEDCT:722296002","medgen:99140"],"information_content":100.0}
{"id":"MONDO:0007208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Boomerang dysplasia","equivalent_identifiers":["MONDO:0007208","DOID:0050680","OMIM:112310","orphanet:1263","UMLS:C0432201","MESH:C536573","SNOMEDCT:254054000","medgen:96579","icd11.foundation:423736259"],"information_content":100.0}
{"id":"MONDO:0007209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weismann-Netter syndrome","equivalent_identifiers":["MONDO:0007209","OMIM:112350","orphanet:3344","UMLS:C1862172","MESH:C537082","SNOMEDCT:715532007","medgen:350610","icd11.foundation:180927608"],"information_content":100.0}
{"id":"MONDO:0007210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay","equivalent_identifiers":["MONDO:0007210","OMIM:112370","UMLS:C1862171","MESH:C566206","medgen:396307"],"information_content":100.0}
{"id":"MONDO:0007211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly-arterial hypertension syndrome","equivalent_identifiers":["MONDO:0007211","DOID:0111247","OMIM:112410","orphanet:1276","UMLS:C1862170","MESH:C537095","SNOMEDCT:720568003","medgen:349445"],"information_content":100.0}
{"id":"MONDO:0007214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly-preaxial hallux varus syndrome","equivalent_identifiers":["MONDO:0007214","DOID:0110962","OMIM:112450","orphanet:1278","UMLS:C1862162","MESH:C537087","medgen:349442","ICD10:Q73.8"],"information_content":100.0}
{"id":"MONDO:0007215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type A1","equivalent_identifiers":["MONDO:0007215","DOID:0110964","OMIM:112500","orphanet:93388","UMLS:C1862151","MESH:C537088","SNOMEDCT:715720006","medgen:354673","icd11.foundation:568452529","HP:0009371"],"information_content":100.0}
{"id":"MONDO:0007216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type A2","equivalent_identifiers":["MONDO:0007216","DOID:0110965","OMIM:112600","orphanet:93396","UMLS:C1832702","MESH:C537089","SNOMEDCT:720569006","medgen:318690","icd11.foundation:594491464","HP:0009372"],"information_content":100.0}
{"id":"MONDO:0007217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type A3","equivalent_identifiers":["MONDO:0007217","DOID:0110966","OMIM:112700","UMLS:C1834060","UMLS:C1862140","MESH:C537090","SNOMEDCT:890438002","medgen:354670","icd11.foundation:153446585","HP:0004220"],"information_content":100.0}
{"id":"MONDO:0007218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type A4","equivalent_identifiers":["MONDO:0007218","DOID:0110967","OMIM:112800","orphanet:93394","UMLS:C1862139","MESH:C537097","SNOMEDCT:715721005","medgen:354669","icd11.foundation:10379198","HP:0031043"],"information_content":100.0}
{"id":"MONDO:0007219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Osebold-Remondini syndrome","equivalent_identifiers":["MONDO:0007219","DOID:0110968","OMIM:112910","orphanet:93382","UMLS:C1862130","MESH:C537092","SNOMEDCT:715722003","medgen:350598"],"information_content":100.0}
{"id":"MONDO:0007220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type B1","equivalent_identifiers":["MONDO:0007220","DOID:0110969","OMIM:113000","orphanet:572385","UMLS:C1862112","MESH:C566196","medgen:349432","HP:0005831"],"information_content":100.0}
{"id":"MONDO:0007221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type C","equivalent_identifiers":["MONDO:0007221","DOID:0110970","OMIM:113100","orphanet:93384","UMLS:C1300268","UMLS:C1862103","MESH:C537093","SNOMEDCT:389169005","medgen:350590","icd11.foundation:956707061","HP:0009373"],"information_content":100.0}
{"id":"MONDO:0007222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type D","equivalent_identifiers":["MONDO:0007222","DOID:0110971","OMIM:113200","UMLS:C0220664","MESH:C562420","SNOMEDCT:890439005","medgen:66313","icd11.foundation:642882691","HP:0005627"],"information_content":100.0}
{"id":"MONDO:0007223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type E1","equivalent_identifiers":["MONDO:0007223","DOID:0110972","OMIM:113300","UMLS:C1862102","MESH:C566194","medgen:396291","HP:0005863"],"information_content":100.0}
{"id":"MONDO:0007224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly, type E, with atrial septal defect, type 2","equivalent_identifiers":["MONDO:0007224","OMIM:113301","UMLS:C1862101","MESH:C566193","medgen:354662"],"information_content":100.0}
{"id":"MONDO:0007225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibular aplasia-ectrodactyly syndrome","equivalent_identifiers":["MONDO:0007225","OMIM:113310","orphanet:1118","UMLS:C1862100","MESH:C537930","medgen:396290"],"information_content":100.0}
{"id":"MONDO:0007226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly-nystagmus-cerebellar ataxia syndrome","equivalent_identifiers":["MONDO:0007226","OMIM:113400","orphanet:1246","UMLS:C0344467","UMLS:C1862099","MESH:C566192","SNOMEDCT:205828009","medgen:350589"],"information_content":100.0}
{"id":"MONDO:0007227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sillence syndrome","equivalent_identifiers":["MONDO:0007227","OMIM:113450","orphanet:3168","UMLS:C1862092","MESH:C537338","SNOMEDCT:732956000","medgen:354659"],"information_content":100.0}
{"id":"MONDO:0007229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short 4th toe","equivalent_identifiers":["MONDO:0007229","OMIM:113475","UMLS:C1862083","medgen:396286","HP:0008093"],"information_content":100.0}
{"id":"MONDO:0007230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brachymorphism-onychodysplasia-dysphalangism syndrome","equivalent_identifiers":["MONDO:0007230","OMIM:113477","orphanet:1292","UMLS:C1862082","MESH:C536242","SNOMEDCT:720573009","medgen:350585"],"information_content":100.0}
{"id":"MONDO:0007231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachytelephalangy-dysmorphism-Kallmann syndrome","equivalent_identifiers":["MONDO:0007231","OMIM:113480","orphanet:1295","UMLS:C2931421","MESH:C537101","medgen:444052"],"information_content":100.0}
{"id":"MONDO:0007232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant brachyolmia","equivalent_identifiers":["MONDO:0007232","OMIM:113500","orphanet:93304","UMLS:C0432227","MESH:C562963","MEDDRA:10081839","MEDDRA:10081840","SNOMEDCT:717264003","medgen:96583"],"information_content":100.0}
{"id":"MONDO:0007233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Branchioma","equivalent_identifiers":["MONDO:0007233","OMIM:113600","orphanet:141022","EFO:1001277","UMLS:C0006131","UMLS:C0079037","UMLS:C3874315","MESH:C562384","MESH:D001935","MEDDRA:10006160","MEDDRA:10006164","NCIT:C104813","NCIT:C2908","SNOMEDCT:362998000","SNOMEDCT:42362005","SNOMEDCT:59857007","SNOMEDCT:73381000119100","SNOMEDCT:785762005","medgen:840602","HP:0009796"],"information_content":100.0}
{"id":"MONDO:0007235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchiooculofacial syndrome","equivalent_identifiers":["MONDO:0007235","DOID:0050691","OMIM:113620","orphanet:1297","UMLS:C0376524","SNOMEDCT:449821007","medgen:91261"],"information_content":100.0}
{"id":"MONDO:0007236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchiootorenal syndrome 1","equivalent_identifiers":["MONDO:0007236","DOID:0111423","OMIM:113650","UMLS:C4551702","medgen:1632634"],"information_content":100.0}
{"id":"MONDO:0007237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gigantomastia","inheritance":"Sex-limited autosomal dominant","equivalent_identifiers":["MONDO:0007237","OMIM:113670","orphanet:180176","UMLS:C0405471","MESH:C536821","SNOMEDCT:198113009","medgen:140798"],"information_content":100.0}
{"id":"MONDO:0007238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amastia","equivalent_identifiers":["MONDO:0007238","UMLS:C0175755","UMLS:C0425795","MESH:C535565","MEDDRA:10087153","MEDDRA:10087160","NCIT:C118459","SNOMEDCT:248820000","SNOMEDCT:75474006","HP:0002561"],"information_content":95.4}
{"id":"MONDO:0007239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolytic ichthyosis","equivalent_identifiers":["MONDO:0007239","DOID:4603","OMIM.PS:113800","UMLS:C0079153","UMLS:C0343110","MESH:D017488","MEDDRA:10006562","MEDDRA:10014990","MEDDRA:10078292","SNOMEDCT:239071005","SNOMEDCT:254167000","medgen:38179","icd11.foundation:1183730789","ICD10:Q80.3","HP:0007475"],"information_content":84.8}
{"id":"MONDO:0007240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive familial heart block, type 1A","equivalent_identifiers":["MONDO:0007240","DOID:0111074","OMIM:113900","EFO:0004138","UMLS:C0006384","UMLS:C0015643","UMLS:C1861983","UMLS:C1861984","UMLS:C1879286","MESH:C566185","MESH:C566186","MESH:C566873","MESH:D002037","MEDDRA:10005268","MEDDRA:10006578","MEDDRA:10006581","MEDDRA:10006583","MEDDRA:10006584","MEDDRA:10019261","MEDDRA:10086740","NCIT:C126651","NCIT:C84603","SNOMEDCT:283645003","SNOMEDCT:6374002","medgen:406301","ICD10:I44","HP:0011710"],"information_content":87.2}
{"id":"MONDO:0007241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bundle branch block, familial isolated complete right","equivalent_identifiers":["MONDO:0007241","OMIM:113950","UMLS:C0340504","MESH:C562759","SNOMEDCT:233919006","medgen:83311"],"information_content":100.0}
{"id":"MONDO:0007243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Burkitt lymphoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0007243","DOID:8584","OMIM:113970","orphanet:543","EFO:0000309","UMLS:C0006413","UMLS:C0079770","UMLS:C1368771","MESH:D002051","MEDDRA:10006595","MEDDRA:10006596","MEDDRA:10006597","MEDDRA:10006604","MEDDRA:10006605","MEDDRA:10006627","MEDDRA:10053518","MEDDRA:10073809","NCIT:C2912","NCIT:C6917","SNOMEDCT:118617000","SNOMEDCT:22197008","SNOMEDCT:397400006","SNOMEDCT:77381001","medgen:2377","icd11.foundation:2100138081","ICD10:C83.7","ICD9:200.2","HP:0030080"],"information_content":72.1}
{"id":"MONDO:0007244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Caffey disease","equivalent_identifiers":["MONDO:0007244","DOID:4257","OMIM:114000","orphanet:1310","UMLS:C0020497","MESH:D006958","MEDDRA:10073206","MEDDRA:10073208","NCIT:C118423","NCIT:C84645","SNOMEDCT:24752008","medgen:43781","ICD10:M89.8"],"information_content":100.0}
{"id":"MONDO:0007245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cafe au lait spots, multiple","equivalent_identifiers":["MONDO:0007245","OMIM:114030","orphanet:2678","UMLS:C1861975","UMLS:C4732743","UMLS:C4732744","MESH:C537421","MEDDRA:10088775","SNOMEDCT:1208340009","medgen:396266","HP:0007565"],"information_content":100.0}
{"id":"MONDO:0007246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"calcific aortic disease with immunologic abnormalities, familial","equivalent_identifiers":["MONDO:0007246","OMIM:114065","UMLS:C1861974","MESH:C566182","medgen:354631"],"information_content":100.0}
{"id":"MONDO:0007248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary painful callosities","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007248","OMIM:114140","orphanet:79141","UMLS:C1861964","MESH:C566180","medgen:349400"],"information_content":100.0}
{"id":"MONDO:0007249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"camptobrachydactyly","equivalent_identifiers":["MONDO:0007249","OMIM:114150","orphanet:1319","UMLS:C1861963","MESH:C537967","SNOMEDCT:733045005","medgen:349399"],"information_content":100.0}
{"id":"MONDO:0007250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Streblodactyly","equivalent_identifiers":["MONDO:0007250","OMIM:114200","orphanet:295016","UMLS:C0685409","UMLS:C1306668","UMLS:C2751430","UMLS:C2931353","MESH:C536852","MESH:C567780","MEDDRA:10049028","SNOMEDCT:29271008","medgen:416550","icd11.foundation:1449348512","HP:0012385"],"information_content":80.6}
{"id":"MONDO:0007251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"campomelic dysplasia","equivalent_identifiers":["MONDO:0007251","DOID:0050463","OMIM:114290","orphanet:140","UMLS:C1842462","UMLS:C1861922","UMLS:C1861923","UMLS:C3549544","MESH:C564282","MESH:D055036","MEDDRA:10083962","NCIT:C120205","NCIT:C84609","SNOMEDCT:74928006","medgen:354620","icd11.foundation:913761638"],"information_content":95.4}
{"id":"MONDO:0007252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gordon syndrome","equivalent_identifiers":["MONDO:0007252","DOID:0111607","OMIM:114300","orphanet:376","UMLS:C0220666","MESH:C537288","SNOMEDCT:237850008","SNOMEDCT:897570002","medgen:66314"],"information_content":100.0}
{"id":"MONDO:0007253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cancer, familial, with in vitro Radioresistance","equivalent_identifiers":["MONDO:0007253","OMIM:114450","UMLS:C1861915","MESH:C566179","medgen:396248"],"information_content":100.0}
{"id":"MONDO:0007256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liver carcinoma","equivalent_identifiers":["MONDO:0007256","DOID:684","DOID:686","OMIM:114550","orphanet:88673","EFO:0000182","UMLS:C1862761","UMLS:C1867955","UMLS:C2239176","UMLS:C2676033","MESH:C567299","MESH:D006528","MEDDRA:10007416","MEDDRA:10019838","MEDDRA:10024658","MEDDRA:10048491","MEDDRA:10049010","MEDDRA:10073071","NCIT:C3099","SNOMEDCT:109841003","SNOMEDCT:1186630006","SNOMEDCT:187769009","SNOMEDCT:25370001","medgen:389187","icd11.foundation:1294035808","HP:0001402"],"information_content":65.4}
{"id":"MONDO:0007257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"candidiasis, familial, 1","equivalent_identifiers":["MONDO:0007257","OMIM:114580","UMLS:C2751429","MESH:C567779","medgen:414015"],"information_content":100.0}
{"id":"MONDO:0007258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"canine teeth, absence of upper permanent","equivalent_identifiers":["MONDO:0007258","OMIM:114600","UMLS:C1861899","medgen:396244"],"information_content":100.0}
{"id":"MONDO:0007259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofaciofrontodigital syndrome","equivalent_identifiers":["MONDO:0007259","OMIM:114620","orphanet:363705","UMLS:C2676032","MESH:C567298","SNOMEDCT:763320005","medgen:393947"],"information_content":100.0}
{"id":"MONDO:0007260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Car factor deficiency","equivalent_identifiers":["MONDO:0007260","OMIM:114650","UMLS:C1861898","MESH:C566176","medgen:354615"],"information_content":100.0}
{"id":"MONDO:0007261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carabelli anomaly of maxillary molar teeth","equivalent_identifiers":["MONDO:0007261","OMIM:114700","UMLS:C1861897","MESH:C566175","medgen:396243"],"information_content":100.0}
{"id":"MONDO:0007263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Arrhythmia","equivalent_identifiers":["MONDO:0007263","EFO:0004269","UMLS:C0003811","UMLS:C0264886","UMLS:C0855329","UMLS:C1744601","UMLS:C1832603","UMLS:C1842820","MESH:D000075224","MESH:D001145","MEDDRA:10000032","MEDDRA:10003119","MEDDRA:10003120","MEDDRA:10003123","MEDDRA:10003127","MEDDRA:10007518","MEDDRA:10007519","MEDDRA:10007520","MEDDRA:10007521","MEDDRA:10007544","MEDDRA:10007545","MEDDRA:10008396","MEDDRA:10010276","MEDDRA:10010277","MEDDRA:10010278","MEDDRA:10010279","MEDDRA:10013978","MEDDRA:10014371","MEDDRA:10019300","MEDDRA:10061116","NCIT:C2881","NCIT:C50543","NCIT:C78245","SNOMEDCT:361135004","SNOMEDCT:361136003","SNOMEDCT:698247007","medgen:2039","ICD10:I49","ICD10:R00","HP:0011675"],"information_content":68.8}
{"id":"MONDO:0007265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiofaciocutaneous syndrome 1","equivalent_identifiers":["MONDO:0007265","DOID:0111460","OMIM:115150"],"information_content":100.0}
{"id":"MONDO:0007266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 2","equivalent_identifiers":["MONDO:0007266","DOID:0110308","OMIM:115195","UMLS:C1861864","MESH:C566171","NCIT:C142892","medgen:349383"],"information_content":100.0}
{"id":"MONDO:0007267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 3","equivalent_identifiers":["MONDO:0007267","DOID:0110309","OMIM:115196","UMLS:C1861863","MESH:C566170","NCIT:C182076","medgen:349382"],"information_content":100.0}
{"id":"MONDO:0007268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 4","equivalent_identifiers":["MONDO:0007268","DOID:0110310","OMIM:115197","UMLS:C1861862","MESH:C566169","NCIT:C133725","medgen:350526"],"information_content":100.0}
{"id":"MONDO:0007269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1A","equivalent_identifiers":["MONDO:0007269","DOID:0110425","OMIM:115200","orphanet:300751","UMLS:C1449563","UMLS:C4707865","UMLS:C5979868","NCIT:C165596","SNOMEDCT:53043001","SNOMEDCT:766883006","medgen:258500"],"information_content":100.0}
{"id":"MONDO:0007270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, familial restrictive, 1","equivalent_identifiers":["MONDO:0007270","DOID:0111425","OMIM:115210","UMLS:C1861861","MESH:C566168","medgen:396236"],"information_content":100.0}
{"id":"MONDO:0007271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial cutaneous collagenoma","equivalent_identifiers":["MONDO:0007271","OMIM:115250","orphanet:53296","UMLS:C0406817","MESH:C562925","SNOMEDCT:239139000","medgen:96073","icd11.foundation:982220551"],"information_content":100.0}
{"id":"MONDO:0007272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary hypercarotenemia and vitamin A deficiency","equivalent_identifiers":["MONDO:0007272","OMIM:115300","orphanet:199285","UMLS:C2676023","UMLS:C2676024","UMLS:C4511672","MESH:C567296","SNOMEDCT:726079008","medgen:393944"],"information_content":95.4}
{"id":"MONDO:0007273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paragangliomas 4","equivalent_identifiers":["MONDO:0007273","OMIM:115310","UMLS:C1861848","medgen:349380"],"information_content":100.0}
{"id":"MONDO:0007274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carpal bossing","equivalent_identifiers":["MONDO:0007274","OMIM:115400","UMLS:C1861847","MEDDRA:10085887","medgen:348468"],"information_content":100.0}
{"id":"MONDO:0007275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carpal tunnel syndrome","equivalent_identifiers":["MONDO:0007275","DOID:12169","OMIM.PS:115430","EFO:0004143","UMLS:C0007286","UMLS:C4023009","MESH:D002349","MEDDRA:10007697","NCIT:C34450","SNOMEDCT:57406009","medgen:2856","icd11.foundation:1275186848","ICD10:G56.0","ICD9:354.0","HP:0012185"],"information_content":92.8}
{"id":"MONDO:0007276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cat-eye syndrome","equivalent_identifiers":["MONDO:0007276","OMIM:115470","orphanet:195","UMLS:C0265493","MESH:C535918","MEDDRA:10083957","MEDDRA:10083958","NCIT:C75477","SNOMEDCT:26445008","medgen:120543","icd11.foundation:1813923633"],"information_content":100.0}
{"id":"MONDO:0007277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract-aberrant oral frenula-growth delay syndrome","equivalent_identifiers":["MONDO:0007277","OMIM:115645","orphanet:1373","UMLS:C1861835","UMLS:C4274900","MESH:C536691","SNOMEDCT:715988005","medgen:350520"],"information_content":100.0}
{"id":"MONDO:0007278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 32 multiple types","equivalent_identifiers":["MONDO:0007278","DOID:0110227","OMIM:115650","UMLS:C1857718","UMLS:C3887926","MESH:C535340","medgen:854634","ICD10:Q12.0"],"information_content":100.0}
{"id":"MONDO:0007279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 7","equivalent_identifiers":["MONDO:0007279","DOID:0110260","OMIM:115660"],"information_content":100.0}
{"id":"MONDO:0007280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 8 multiple types","equivalent_identifiers":["MONDO:0007280","DOID:0110228","OMIM:115665","UMLS:C1861833","MESH:C538285","medgen:396230"],"information_content":100.0}
{"id":"MONDO:0007281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 4 multiple types","equivalent_identifiers":["MONDO:0007281","DOID:0110234","OMIM:115700","UMLS:C1837023","UMLS:C1861832","UMLS:C3540850","UMLS:C3888390","UMLS:C3888391","MESH:C563819","MESH:C565131","MESH:C566162","medgen:761925","HP:0010926"],"information_content":100.0}
{"id":"MONDO:0007282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 29","equivalent_identifiers":["MONDO:0007282","DOID:0110232","OMIM:115800","UMLS:C3805409","medgen:811739"],"information_content":100.0}
{"id":"MONDO:0007283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 42","equivalent_identifiers":["MONDO:0007283","DOID:0110237","OMIM:115900","UMLS:C4011454","medgen:859891"],"information_content":100.0}
{"id":"MONDO:0007284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pseudoaphakia","equivalent_identifiers":["MONDO:0007284","DOID:0110240","OMIM:116100","UMLS:C0524524","UMLS:C3805410","medgen:101117","HP:0010922"],"information_content":100.0}
{"id":"MONDO:0007285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 1 multiple types","equivalent_identifiers":["MONDO:0007285","DOID:0110231","OMIM:116200","UMLS:C1861828","MESH:C566158","medgen:349374"],"information_content":100.0}
{"id":"MONDO:0007286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 30","equivalent_identifiers":["MONDO:0007286","DOID:0110248","OMIM:116300","UMLS:C1861827","UMLS:C3805411","MESH:C566157","medgen:811741"],"information_content":100.0}
{"id":"MONDO:0007287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 41","equivalent_identifiers":["MONDO:0007287","DOID:0110241","OMIM:116400","UMLS:C3805412","medgen:811742"],"information_content":100.0}
{"id":"MONDO:0007288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 6 multiple types","equivalent_identifiers":["MONDO:0007288","DOID:0110229","OMIM:116600","UMLS:C1861825","MESH:C535339","medgen:396229"],"information_content":100.0}
{"id":"MONDO:0007289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 13 with adult I phenotype","equivalent_identifiers":["MONDO:0007289","DOID:0110242","OMIM:116700","UMLS:C3805373","medgen:811703"],"information_content":100.0}
{"id":"MONDO:0007290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 5 multiple types","equivalent_identifiers":["MONDO:0007290","DOID:0110255","OMIM:116800","UMLS:C0266537","UMLS:C3888417","MESH:C535342","SNOMEDCT:204128001","SNOMEDCT:21590003","medgen:78608","HP:0007971"],"information_content":92.8}
{"id":"MONDO:0007293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukocyte adhesion deficiency 1","equivalent_identifiers":["MONDO:0007293","DOID:0110910","OMIM:116920","orphanet:99842","UMLS:C0398738","MESH:C535887","MEDDRA:10083936","NCIT:C4689","SNOMEDCT:234582006","medgen:98310"],"information_content":86.3}
{"id":"MONDO:0007294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central core myopathy","equivalent_identifiers":["MONDO:0007294","DOID:3529","OMIM:117000","orphanet:597","EFO:1000855","UMLS:C0751951","UMLS:C5830701","MESH:D020512","MEDDRA:10057620","MEDDRA:10057629","NCIT:C202545","NCIT:C83010","SNOMEDCT:43152001","medgen:1841337","icd11.foundation:2065822840","ICD10:G71.29"],"information_content":100.0}
{"id":"MONDO:0007295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"self-limited epilepsy with centrotemporal spikes","equivalent_identifiers":["MONDO:0007295","DOID:3329","OMIM:117100","orphanet:1945","UMLS:C0376532","UMLS:C2363129","MESH:D019305","MEDDRA:10070530","NCIT:C116538","SNOMEDCT:44145005","medgen:138210","icd11.foundation:1046279423"],"information_content":100.0}
{"id":"MONDO:0007296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 31","equivalent_identifiers":["MONDO:0007296","DOID:0050980","OMIM:117210","orphanet:217012","UMLS:C1861736","MESH:C566146","NCIT:C176901","SNOMEDCT:715826005","medgen:348439","icd11.foundation:250956064"],"information_content":100.0}
{"id":"MONDO:0007297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ADan amyloidosis","equivalent_identifiers":["MONDO:0007297","DOID:0070030","OMIM:117300","orphanet:97346","UMLS:C1861735","MESH:C538209","SNOMEDCT:783258000","medgen:396208","icd11.foundation:54507082"],"information_content":100.0}
{"id":"MONDO:0007298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 29","equivalent_identifiers":["MONDO:0007298","DOID:0050978","OMIM:117360","orphanet:208513","UMLS:C1861732","MESH:C537206","SNOMEDCT:715825009","medgen:350085","icd11.foundation:359640365"],"information_content":100.0}
{"id":"MONDO:0007301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebrocostomandibular syndrome","equivalent_identifiers":["MONDO:0007301","DOID:0111248","OMIM:117650","orphanet:1393","UMLS:C0265342","MESH:C562538","MEDDRA:10088264","SNOMEDCT:51780007","medgen:120537","icd11.foundation:1475063064"],"information_content":100.0}
{"id":"MONDO:0007302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical hypertrichosis with underlying kyphoscoliosis","equivalent_identifiers":["MONDO:0007302","OMIM:117850","UMLS:C1861695","MESH:C566142","medgen:349343"],"information_content":100.0}
{"id":"MONDO:0007303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cervical rib","equivalent_identifiers":["MONDO:0007303","DOID:3102","OMIM:117900","EFO:1000861","UMLS:C0007856","UMLS:C0158779","MESH:D002573","MESH:D057070","MEDDRA:10008299","MEDDRA:10008301","NCIT:C158329","SNOMEDCT:1285171005","SNOMEDCT:413577001","SNOMEDCT:72535009","medgen:102359","HP:0000891"],"information_content":100.0}
{"id":"MONDO:0007304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical vertebral Bridge","equivalent_identifiers":["MONDO:0007304","OMIM:118000","UMLS:C1861694","medgen:348426"],"information_content":100.0}
{"id":"MONDO:0007305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical vertebral dysplasia","equivalent_identifiers":["MONDO:0007305","OMIM:118005","UMLS:C1861693","MESH:C566140","medgen:396199","HP:0008469"],"information_content":100.0}
{"id":"MONDO:0007306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Klippel-Feil syndrome 1, autosomal dominant","equivalent_identifiers":["MONDO:0007306","DOID:0080589","OMIM:118100","UMLS:C1861689","MESH:C536887","medgen:396196"],"information_content":100.0}
{"id":"MONDO:0007307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 1B","equivalent_identifiers":["MONDO:0007307","DOID:0110152","OMIM:118200","orphanet:101082","UMLS:C0270912","NCIT:C118782","SNOMEDCT:42986003","medgen:124377","icd11.foundation:1632280319"],"information_content":100.0}
{"id":"MONDO:0007308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2A1","equivalent_identifiers":["MONDO:0007308","DOID:0110154","OMIM:118210","orphanet:99946","UMLS:C1861678","UMLS:C2079538","MESH:C537988","MESH:C566138","NCIT:C134952","NCIT:C150609","SNOMEDCT:717016001","medgen:350076","icd11.foundation:2087067372"],"information_content":92.8}
{"id":"MONDO:0007309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 1A","equivalent_identifiers":["MONDO:0007309","DOID:0110148","OMIM:118220","orphanet:101081","UMLS:C0270911","NCIT:C75468","SNOMEDCT:40632002","medgen:75727"],"information_content":92.8}
{"id":"MONDO:0007311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 1E","equivalent_identifiers":["MONDO:0007311","DOID:0110153","OMIM:118300","orphanet:90658","UMLS:C2931686","UMLS:C3495591","MESH:C537986","MESH:C566136","medgen:501212","icd11.foundation:1924906594"],"information_content":100.0}
{"id":"MONDO:0007313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cheilitis glandularis","equivalent_identifiers":["MONDO:0007313","OMIM:118330","orphanet:1221","UMLS:C0267034","MESH:C535921","SNOMEDCT:26374003","medgen:75626"],"information_content":100.0}
{"id":"MONDO:0007316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chiari malformation type I","equivalent_identifiers":["MONDO:0007316","OMIM:118420","orphanet:268882","UMLS:C0750929","UMLS:C1861647","MESH:C566133","MEDDRA:10056944","SNOMEDCT:253185002","medgen:196689","icd11.foundation:1383121646","HP:0007099"],"information_content":100.0}
{"id":"MONDO:0007318","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alagille syndrome","equivalent_identifiers":["MONDO:0007318","DOID:9245","OMIM.PS:118450","orphanet:52","UMLS:C0085280","MESH:D016738","MEDDRA:10053870","NCIT:C35139","SNOMEDCT:31742004","medgen:39014","icd11.foundation:1249656206","ICD10:Q44.7"],"information_content":90.9}
{"id":"MONDO:0007319","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrocalcinosis 2","equivalent_identifiers":["MONDO:0007319","OMIM:118600","orphanet:1416","UMLS:C0856830","MESH:C563162","MEDDRA:10006977","MEDDRA:10067429","medgen:163633"],"information_content":100.0}
{"id":"MONDO:0007321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant chondrodysplasia punctata","equivalent_identifiers":["MONDO:0007321","DOID:0060293","OMIM:118650","UMLS:C1442935","UMLS:C1861578","UMLS:C1861579","MESH:C563248","medgen:303176"],"information_content":92.8}
{"id":"MONDO:0007322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrodysplasia punctata, tibial-metacarpal type","equivalent_identifiers":["MONDO:0007322","OMIM:118651","orphanet:79346","UMLS:C0432224","MESH:C562961","SNOMEDCT:254083002","medgen:98147","icd11.foundation:1513713461"],"information_content":100.0}
{"id":"MONDO:0007325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choreoathetosis, familial inverted","equivalent_identifiers":["MONDO:0007325","OMIM:118750","UMLS:C1861569","MESH:C566127","medgen:348393"],"information_content":100.0}
{"id":"MONDO:0007327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase","equivalent_identifiers":["MONDO:0007327","DOID:0111419","OMIM:118830","UMLS:C1861560","MESH:C566126","medgen:348391"],"information_content":100.0}
{"id":"MONDO:0007329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cirrhosis, familial","equivalent_identifiers":["MONDO:0007329","OMIM:215600","UMLS:C0267809","UMLS:C0268074","UMLS:C1859088","UMLS:C1861556","UMLS:C1876165","UMLS:C1876166","MESH:C562577","MESH:C562580","MESH:C565846","MESH:C566123","MESH:C566858","MEDDRA:10063075","NCIT:C84411","SNOMEDCT:6183001","SNOMEDCT:89580002","medgen:350049"],"information_content":85.5}
{"id":"MONDO:0007330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital pseudoarthrosis of clavicle","equivalent_identifiers":["MONDO:0007330","OMIM:118980","orphanet:66630","UMLS:C0265565","UMLS:C0426806","UMLS:C0426811","MESH:C562548","SNOMEDCT:249685004","SNOMEDCT:249690001","SNOMEDCT:70794004","medgen:75577","icd11.foundation:1844778103","HP:0006585"],"information_content":100.0}
{"id":"MONDO:0007332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split-hand/foot malformation with long bone deficiency 1","equivalent_identifiers":["MONDO:0007332","OMIM:119100","UMLS:C1861553","MESH:C536425","medgen:349310"],"information_content":100.0}
{"id":"MONDO:0007333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van der Woude syndrome 1","equivalent_identifiers":["MONDO:0007333","OMIM:119300","UMLS:C4551864","medgen:1640616"],"information_content":100.0}
{"id":"MONDO:0007334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant popliteal pterygium syndrome","equivalent_identifiers":["MONDO:0007334","OMIM:119500","orphanet:1300","UMLS:C5848052","SNOMEDCT:718222000","medgen:1844082","icd11.foundation:2069589860"],"information_content":100.0}
{"id":"MONDO:0007335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 1","equivalent_identifiers":["MONDO:0007335","DOID:0080395","OMIM:119530","UMLS:C1861537","MESH:C566121","NCIT:C124838","medgen:349303"],"information_content":100.0}
{"id":"MONDO:0007336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated cleft palate","equivalent_identifiers":["MONDO:0007336","DOID:0110213","OMIM:119540","UMLS:C1837218","medgen:332392","ICD10:Q35.1","ICD10:Q35.3","ICD10:Q35.5","ICD10:Q35.7","ICD10:Q35.9"],"information_content":95.4}
{"id":"MONDO:0007337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft palate-lateral synechia syndrome","equivalent_identifiers":["MONDO:0007337","DOID:0080313","OMIM:119550","orphanet:2016","UMLS:C0795898","MESH:C563047","SNOMEDCT:403772000","medgen:162888"],"information_content":100.0}
{"id":"MONDO:0007338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft soft palate","equivalent_identifiers":["MONDO:0007338","DOID:0110214","OMIM:119570","orphanet:99772","UMLS:C0432098","MESH:C562950","MEDDRA:10009270","SNOMEDCT:253997002","medgen:98471","icd11.foundation:797497023","HP:0000185"],"information_content":87.2}
{"id":"MONDO:0007339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharocheilodontic syndrome","equivalent_identifiers":["MONDO:0007339","DOID:0080344","OMIM.PS:119580","orphanet:1997","UMLS:C1861536","MESH:C536188","SNOMEDCT:717911008","medgen:349302","icd11.foundation:755252042"],"information_content":90.9}
{"id":"MONDO:0007340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleidocranial dysplasia 1","equivalent_identifiers":["MONDO:0007340","DOID:13994","OMIM:119600","orphanet:1452","UMLS:C0008928","UMLS:C5774312","UMLS:C5774315","MESH:D002973","MEDDRA:10075994","MEDDRA:10075998","NCIT:C75020","SNOMEDCT:65976001","medgen:3486","ICD10:Q74.0"],"information_content":90.9}
{"id":"MONDO:0007341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleidorhizomelic syndrome","equivalent_identifiers":["MONDO:0007341","OMIM:119650","orphanet:1453","UMLS:C1861515","MESH:C536428","SNOMEDCT:719471002","medgen:350042"],"information_content":100.0}
{"id":"MONDO:0007342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"clubfoot","equivalent_identifiers":["MONDO:0007342","DOID:11836","OMIM:119800","UMLS:C0009081","UMLS:C0858279","MESH:D003025","MEDDRA:10009687","MEDDRA:10009694","MEDDRA:10009695","MEDDRA:10010419","MEDDRA:10016523","MEDDRA:10016869","MEDDRA:10043105","MEDDRA:10043106","MEDDRA:10048426","NCIT:C84641","SNOMEDCT:1156475005","SNOMEDCT:397932003","medgen:3130","ICD10:Q66.89","ICD9:754.51","HP:0001762"],"information_content":90.9}
{"id":"MONDO:0007343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated congenital digital clubbing","equivalent_identifiers":["MONDO:0007343","OMIM:119900","orphanet:217059","UMLS:C0345408","MEDDRA:10090111","SNOMEDCT:239055005","medgen:576901","icd11.foundation:130631845"],"information_content":100.0}
{"id":"MONDO:0007344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cluster headache, familial","equivalent_identifiers":["MONDO:0007344","OMIM:119915","UMLS:C1861513","MESH:C566117","medgen:350040"],"information_content":100.0}
{"id":"MONDO:0007345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aorta coarctation","equivalent_identifiers":["MONDO:0007345","DOID:0051054","OMIM:120000","orphanet:1457","EFO:1001267","UMLS:C0003492","MESH:D001017","MEDDRA:10002894","MEDDRA:10009805","MEDDRA:10009807","NCIT:C84567","SNOMEDCT:7305005","medgen:1617","icd11.foundation:1524185114","HP:0001680"],"information_content":86.3}
{"id":"MONDO:0007346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cochleosaccular degeneration-cataract syndrome","equivalent_identifiers":["MONDO:0007346","OMIM:120040","orphanet:3233","UMLS:C1861512","MESH:C536432","SNOMEDCT:715528001","medgen:348378"],"information_content":100.0}
{"id":"MONDO:0007349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial cold autoinflammatory syndrome 1","equivalent_identifiers":["MONDO:0007349","DOID:0090062","OMIM:120100","UMLS:C4551895","SNOMEDCT:238687000","medgen:1647324"],"information_content":100.0}
{"id":"MONDO:0007350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma, ocular, autosomal dominant","equivalent_identifiers":["MONDO:0007350","OMIM:120200","UMLS:C4554007","UMLS:C5886785","medgen:1859952"],"information_content":92.8}
{"id":"MONDO:0007351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma of macula","equivalent_identifiers":["MONDO:0007351","OMIM:120300","orphanet:98945","UMLS:C1852767","MESH:C535968","SNOMEDCT:737579002","medgen:342305","icd11.foundation:366058642","HP:0001116"],"information_content":100.0}
{"id":"MONDO:0007352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal coloboma syndrome","equivalent_identifiers":["MONDO:0007352","DOID:0090006","OMIM:120330","orphanet:1475","UMLS:C1852759","MESH:C537168","MEDDRA:10090293","NCIT:C123230","SNOMEDCT:446449009","medgen:339002","ICD10:Q60.4"],"information_content":100.0}
{"id":"MONDO:0007353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma of macula-brachydactyly type B syndrome","equivalent_identifiers":["MONDO:0007353","OMIM:120400","orphanet:1471","UMLS:C1852752","MESH:C535969","SNOMEDCT:717785002","medgen:343882"],"information_content":100.0}
{"id":"MONDO:0007354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma of optic nerve","equivalent_identifiers":["MONDO:0007354","DOID:11975","OMIM:120430","orphanet:98947","UMLS:C0155299","MESH:C535970","SNOMEDCT:17541006","SNOMEDCT:44295002","medgen:57832","icd11.foundation:592278969","ICD10:Q14.2","ICD9:377.23","HP:0000588"],"information_content":95.4}
{"id":"MONDO:0007355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uveal coloboma-cleft lip and palate-intellectual disability","equivalent_identifiers":["MONDO:0007355","DOID:0111249","OMIM:120433","orphanet:1473","UMLS:C0795902","UMLS:C3805432","MESH:C535971","medgen:811762"],"information_content":100.0}
{"id":"MONDO:0007358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"comedones, familial Dyskeratotic","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007358","OMIM:120450","UMLS:C0345424","MESH:C562838","SNOMEDCT:254219004","medgen:138018"],"information_content":100.0}
{"id":"MONDO:0007359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"commissural lip pits","equivalent_identifiers":["MONDO:0007359","OMIM:120500","UMLS:C0399605","UMLS:C1290593","SNOMEDCT:109550008","medgen:98001","HP:0002710"],"information_content":100.0}
{"id":"MONDO:0007360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchiootic syndrome 2","equivalent_identifiers":["MONDO:0007360","OMIM:120502","UMLS:C1852718","MESH:C565171","medgen:377737"],"information_content":100.0}
{"id":"MONDO:0007361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C1 inhibitor deficiency","equivalent_identifiers":["MONDO:0007361","DOID:0060002","OMIM:120790","UMLS:C1852700","MESH:C565168","medgen:343867"],"information_content":100.0}
{"id":"MONDO:0007362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 2","equivalent_identifiers":["MONDO:0007362","DOID:0111005","OMIM:120970","UMLS:C0339530","UMLS:C3489532","NCIT:C162399","SNOMEDCT:80328002","medgen:483485"],"information_content":100.0}
{"id":"MONDO:0007363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital contractural arachnodactyly","equivalent_identifiers":["MONDO:0007363","DOID:0111595","OMIM:121050","orphanet:115","UMLS:C0220668","MESH:C536211","NCIT:C129865","SNOMEDCT:205821003","medgen:67391","icd11.foundation:1376425921"],"information_content":100.0}
{"id":"MONDO:0007364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, distal, type 2E","equivalent_identifiers":["MONDO:0007364","OMIM:121070","UMLS:C1852597","MESH:C535384","medgen:343844"],"information_content":100.0}
{"id":"MONDO:0007365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures, benign familial neonatal, 1","equivalent_identifiers":["MONDO:0007365","OMIM:121200","UMLS:C2751195","UMLS:C3149074","UMLS:C3149075","MESH:C567743","medgen:460425"],"information_content":100.0}
{"id":"MONDO:0007366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures, benign familial neonatal, 2","equivalent_identifiers":["MONDO:0007366","OMIM:121201","UMLS:C1852581","MESH:C535466","medgen:377707"],"information_content":100.0}
{"id":"MONDO:0007367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"febrile seizures, familial, 1","equivalent_identifiers":["MONDO:0007367","DOID:0111307","OMIM:121210","UMLS:C0393708","UMLS:C1852577","MESH:C565162","SNOMEDCT:230432008","medgen:338959"],"information_content":100.0}
{"id":"MONDO:0007368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial benign copper deficiency","equivalent_identifiers":["MONDO:0007368","OMIM:121270","orphanet:1551","UMLS:C1852576","MESH:C535468","SNOMEDCT:763531001","medgen:338958"],"information_content":100.0}
{"id":"MONDO:0007369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary coproporphyria","equivalent_identifiers":["MONDO:0007369","DOID:13269","OMIM:121300","orphanet:79273","UMLS:C0162531","MESH:D046349","MEDDRA:10019866","NCIT:C84759","SNOMEDCT:7425008","medgen:57931","icd11.foundation:1365918274","ICD10:E80.29"],"information_content":100.0}
{"id":"MONDO:0007370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coracoclavicular joint, anomalous","equivalent_identifiers":["MONDO:0007370","OMIM:121350","UMLS:C1852561","MESH:C565161","medgen:377706"],"information_content":100.0}
{"id":"MONDO:0007371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cornea guttata with anterior polar cataracts","equivalent_identifiers":["MONDO:0007371","OMIM:121390","UMLS:C1852558","MESH:C535471","medgen:338956"],"information_content":100.0}
{"id":"MONDO:0007372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CORNEA PLANA 1","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0007372","OMIM:121400","UMLS:C1852557","MESH:C565158","medgen:343837"],"information_content":100.0}
{"id":"MONDO:0007374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schnyder corneal dystrophy","equivalent_identifiers":["MONDO:0007374","DOID:0060456","OMIM:121800","orphanet:98967","UMLS:C0271287","MESH:C535475","SNOMEDCT:39662004","SNOMEDCT:419395007","medgen:124391","HP:0007760"],"information_content":100.0}
{"id":"MONDO:0007375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelial basement membrane dystrophy","equivalent_identifiers":["MONDO:0007375","DOID:0060447","OMIM:121820","orphanet:98956","UMLS:C0271285","UMLS:C0521723","MESH:C535477","MEDDRA:10064871","MEDDRA:10079542","SNOMEDCT:32935005","SNOMEDCT:373426005","medgen:99275","HP:0007690"],"information_content":100.0}
{"id":"MONDO:0007376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fleck corneal dystrophy","equivalent_identifiers":["MONDO:0007376","DOID:0060448","OMIM:121850","orphanet:98970","UMLS:C1562113","MESH:C563256","SNOMEDCT:417183007","medgen:287065","icd11.foundation:607143324"],"information_content":100.0}
{"id":"MONDO:0007377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granular corneal dystrophy type I","equivalent_identifiers":["MONDO:0007377","DOID:0080530","OMIM:121900","orphanet:98962","UMLS:C1641846","MESH:C537304","SNOMEDCT:419039007","medgen:351521"],"information_content":100.0}
{"id":"MONDO:0007378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior polymorphous corneal dystrophy 1","equivalent_identifiers":["MONDO:0007378","DOID:0110855","OMIM:122000","UMLS:C0339284","UMLS:C1852555","MESH:C562745","MEDDRA:10085885","SNOMEDCT:29504002","medgen:343836","ICD10:H18.50","HP:0007915"],"information_content":100.0}
{"id":"MONDO:0007379","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meesmann corneal dystrophy","equivalent_identifiers":["MONDO:0007379","DOID:0060451","OMIM.PS:122100","orphanet:98954","UMLS:C0339277","MESH:D053559","MEDDRA:10023254","NCIT:C84795","SNOMEDCT:1674008","medgen:83283","ICD10:H18.52","ICD9:371.51","HP:0007755"],"information_content":92.8}
{"id":"MONDO:0007380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lattice corneal dystrophy type I","equivalent_identifiers":["MONDO:0007380","OMIM:122200","orphanet:98964","UMLS:C1690006","MESH:C537881","SNOMEDCT:419197009","medgen:305533"],"information_content":100.0}
{"id":"MONDO:0007381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelial recurrent erosion dystrophy","equivalent_identifiers":["MONDO:0007381","DOID:0070337","OMIM:122400","orphanet:293381","UMLS:C1852551","MESH:C565155","SNOMEDCT:715908008","medgen:342263","icd11.foundation:1105690299"],"information_content":100.0}
{"id":"MONDO:0007382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ramos-Arroyo syndrome","equivalent_identifiers":["MONDO:0007382","OMIM:122430","orphanet:1051","UMLS:C2930866","MESH:C535286","SNOMEDCT:723504000","medgen:418932"],"information_content":100.0}
{"id":"MONDO:0007383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stern-Lubinsky-Durrie syndrome","equivalent_identifiers":["MONDO:0007383","OMIM:122440","orphanet:3194","UMLS:C1852542","UMLS:C2931506","MESH:C536444","MESH:C537488","SNOMEDCT:723584003","medgen:342260","icd11.foundation:1754695879"],"information_content":100.0}
{"id":"MONDO:0007385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic spontaneous coronary artery dissection","equivalent_identifiers":["MONDO:0007385","OMIM:122455","orphanet:458718","EFO:0010820","UMLS:C0340648","UMLS:C1852540","MESH:C565153","MEDDRA:10048631","NCIT:C165532","SNOMEDCT:732230001","medgen:377701","HP:0006702"],"information_content":100.0}
{"id":"MONDO:0007387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cornelia de Lange syndrome 1","equivalent_identifiers":["MONDO:0007387","DOID:0080505","OMIM:122470","UMLS:C4551851","SNOMEDCT:40354009","medgen:1645760"],"information_content":100.0}
{"id":"MONDO:0007388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenitally short costocoracoid ligament","equivalent_identifiers":["MONDO:0007388","OMIM:122580","orphanet:2391","UMLS:C1852523","MESH:C536448","SNOMEDCT:725101002","medgen:342257"],"information_content":100.0}
{"id":"MONDO:0007389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocostal dysostosis 5","equivalent_identifiers":["MONDO:0007389","DOID:0112363","OMIM:122600","UMLS:C4083048","medgen:901825"],"information_content":100.0}
{"id":"MONDO:0007390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coumarin resistance","equivalent_identifiers":["MONDO:0007390","DOID:0080665","DOID:0080666","OMIM:122700","OMIM:122720","UMLS:C0750384","UMLS:C1852514","UMLS:C1852516","UMLS:C2608079","UMLS:C2675747","UMLS:C4017430","UMLS:C4017431","UMLS:C4017432","UMLS:C4017433","UMLS:C4017434","UMLS:C4017435","UMLS:C4017436","MESH:C563039","MESH:C567080","MESH:C567276","SNOMEDCT:726543008","medgen:148193"],"information_content":100.0}
{"id":"MONDO:0007391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coxa vara","equivalent_identifiers":["MONDO:0007391","OMIM:122750","EFO:1001298","UMLS:C0152431","UMLS:C0239138","UMLS:C5551440","MESH:D060905","MEDDRA:10011248","SNOMEDCT:1179328008","SNOMEDCT:74820003","medgen:1790477","HP:0002812"],"information_content":92.8}
{"id":"MONDO:0007392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coxoauricular syndrome","equivalent_identifiers":["MONDO:0007392","OMIM:122780","orphanet:1508","UMLS:C1852513","MESH:C565148","SNOMEDCT:732248005","medgen:343827","icd11.foundation:649449912"],"information_content":100.0}
{"id":"MONDO:0007393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranioacrofacial syndrome","equivalent_identifiers":["MONDO:0007393","OMIM:122850","UMLS:C1852512","MESH:C565147","medgen:338947"],"information_content":100.0}
{"id":"MONDO:0007395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofacial-deafness-hand syndrome","equivalent_identifiers":["MONDO:0007395","DOID:0111336","OMIM:122880","orphanet:1529","UMLS:C1852510","MESH:C536453","SNOMEDCT:702362004","medgen:377694","icd11.foundation:1355682887"],"information_content":100.0}
{"id":"MONDO:0007396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysostosis, Stanescu type","equivalent_identifiers":["MONDO:0007396","OMIM:122900","orphanet:1798","UMLS:C0432263","MESH:C562974","SNOMEDCT:254124008","medgen:140931"],"information_content":100.0}
{"id":"MONDO:0007397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniometaphyseal dysplasia, autosomal dominant","equivalent_identifiers":["MONDO:0007397","DOID:0080801","OMIM:123000","UMLS:C1852502","MESH:C565145","medgen:338945"],"information_content":100.0}
{"id":"MONDO:0007399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TWIST1-related craniosynostosis","equivalent_identifiers":["MONDO:0007399","DOID:0061010","OMIM:123100","UMLS:C4551902","SNOMEDCT:57219006","medgen:1646646"],"information_content":100.0}
{"id":"MONDO:0007400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jackson-Weiss syndrome","equivalent_identifiers":["MONDO:0007400","DOID:0111337","OMIM:123150","orphanet:1540","UMLS:C0795998","MESH:C537559","NCIT:C123814","SNOMEDCT:709105005","medgen:208653"],"information_content":100.0}
{"id":"MONDO:0007401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome","equivalent_identifiers":["MONDO:0007401","OMIM:123155","orphanet:1538","UMLS:C1838347","UMLS:C4304196","MESH:C563973","SNOMEDCT:720813007","medgen:325006"],"information_content":100.0}
{"id":"MONDO:0007402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"creatine phosphokinase, elevated serum","equivalent_identifiers":["MONDO:0007402","OMIM:123320","UMLS:C0151576","UMLS:C0241005","UMLS:C0853034","MEDDRA:10005470","MEDDRA:10009219","MEDDRA:10011267","MEDDRA:10011268","MEDDRA:10011335","MEDDRA:10011336","MEDDRA:10011349","MEDDRA:10034937","MEDDRA:10035269","MEDDRA:10040224","MEDDRA:10056732","NCIT:C78247","SNOMEDCT:432352001","medgen:69128","HP:0003236"],"information_content":88.2}
{"id":"MONDO:0007403","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited Creutzfeldt-Jakob disease","equivalent_identifiers":["MONDO:0007403","OMIM:123400","orphanet:282166","UMLS:C0751254","UMLS:C1969957","MESH:C566981","SNOMEDCT:715807002","medgen:155837","icd11.foundation:607607042"],"information_content":95.4}
{"id":"MONDO:0007404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cri-du-chat syndrome","equivalent_identifiers":["MONDO:0007404","DOID:12580","OMIM:123450","orphanet:281","UMLS:C0010314","MESH:D003410","MEDDRA:10011385","NCIT:C34518","SNOMEDCT:70173007","medgen:41345","icd11.foundation:620584190","ICD10:Q93.4","ICD9:758.31"],"information_content":100.0}
{"id":"MONDO:0007405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crouzon syndrome","equivalent_identifiers":["MONDO:0007405","DOID:2339","OMIM:123500","orphanet:207","UMLS:C0010273","UMLS:C2931196","MESH:D003394","MEDDRA:10066946","MEDDRA:10066950","NCIT:C84653","SNOMEDCT:28861008","medgen:1162","icd11.foundation:1535725821","ICD10:Q75.1","HP:0004439"],"information_content":92.8}
{"id":"MONDO:0007406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryofibrinogenemia, familial primary","equivalent_identifiers":["MONDO:0007406","OMIM:123540","UMLS:C1852457","MESH:C565142","medgen:377679"],"information_content":100.0}
{"id":"MONDO:0007407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cryoglobulinemic vasculitis","equivalent_identifiers":["MONDO:0007407","OMIM:123550","orphanet:91138","UMLS:C0340992","UMLS:C1852456","MESH:C565141","MEDDRA:10075623","MEDDRA:10075624","SNOMEDCT:190815001","medgen:343814","icd11.foundation:55133785"],"information_content":92.8}
{"id":"MONDO:0007408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptotia, familial","equivalent_identifiers":["MONDO:0007408","OMIM:123557","UMLS:C1852455","MESH:C565140","medgen:342243"],"information_content":100.0}
{"id":"MONDO:0007409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptomicrotia-brachydactyly-excess fingertip arch syndrome","equivalent_identifiers":["MONDO:0007409","OMIM:123560","orphanet:1547","UMLS:C1852454","MESH:C536219","SNOMEDCT:725096002","medgen:377678"],"information_content":100.0}
{"id":"MONDO:0007410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated cryptophthalmia","equivalent_identifiers":["MONDO:0007410","DOID:0111717","OMIM:123570","orphanet:91396","UMLS:C1852453","UMLS:C4305274","MESH:C565138","SNOMEDCT:718691008","medgen:342242"],"information_content":90.9}
{"id":"MONDO:0007411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa, autosomal dominant 1","equivalent_identifiers":["MONDO:0007411","DOID:0070130","OMIM:123700","UMLS:C3276539","medgen:478169"],"information_content":100.0}
{"id":"MONDO:0007412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Beare-Stevenson cutis gyrata syndrome","equivalent_identifiers":["MONDO:0007412","DOID:0050660","OMIM:123790","orphanet:1555","UMLS:C1852406","MESH:C565129","NCIT:C123813","SNOMEDCT:703528008","medgen:377668","icd11.foundation:947865461"],"information_content":100.0}
{"id":"MONDO:0007414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gorham-Stout disease","equivalent_identifiers":["MONDO:0007414","OMIM:123880","orphanet:73","UMLS:C0029438","MEDDRA:10071283","SNOMEDCT:1515008","medgen:45248","icd11.foundation:1318015458"],"information_content":100.0}
{"id":"MONDO:0007415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex III deficiency nuclear type 1","equivalent_identifiers":["MONDO:0007415","DOID:0080111","OMIM:124000","UMLS:C3541471","MESH:C565128","medgen:762097"],"information_content":95.4}
{"id":"MONDO:0007416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Balkan nephropathy","equivalent_identifiers":["MONDO:0007416","DOID:3052","OMIM:124100","EFO:0007164","UMLS:C0004698","UMLS:C4049993","MESH:D001449","MEDDRA:10086674","NCIT:C123025","SNOMEDCT:26121002","SNOMEDCT:717770008","medgen:495","icd11.foundation:18497836","ICD10:N15.0"],"information_content":100.0}
{"id":"MONDO:0007417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Darier disease","equivalent_identifiers":["MONDO:0007417","DOID:2734","OMIM:124200","orphanet:218","UMLS:C0022595","UMLS:C1852296","UMLS:C1852297","MESH:C565125","MESH:C565126","MESH:D007644","MEDDRA:10011860","MEDDRA:10023369","NCIT:C84665","SNOMEDCT:48611009","medgen:5956","icd11.foundation:643994486","ICD10:E50.8"],"information_content":100.0}
{"id":"MONDO:0007418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DARWINIAN NOTCH","equivalent_identifiers":["MONDO:0007418","OMIM:124300","UMLS:C1852294","UMLS:C2751189","medgen:343772"],"information_content":100.0}
{"id":"MONDO:0007420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant deafness - onychodystrophy syndrome","equivalent_identifiers":["MONDO:0007420","DOID:0080720","OMIM:124480","orphanet:79499","UMLS:C2675730","MESH:C567274","NCIT:C175240","SNOMEDCT:1208614008","medgen:382676"],"information_content":100.0}
{"id":"MONDO:0007421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-ear malformation-facial palsy syndrome","equivalent_identifiers":["MONDO:0007421","OMIM:124490","orphanet:3232","UMLS:C1852292","UMLS:C4274753","MESH:C565123","SNOMEDCT:716243005","medgen:338900"],"information_content":100.0}
{"id":"MONDO:0007422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoderma hereditarium mutilans","equivalent_identifiers":["MONDO:0007422","DOID:0111339","OMIM:124500","orphanet:494","UMLS:C0265964","MESH:C536457","SNOMEDCT:24559001","medgen:78579"],"information_content":100.0}
{"id":"MONDO:0007423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, mid-tone neural","equivalent_identifiers":["MONDO:0007423","OMIM:124700","UMLS:C1852283","MESH:C565122","medgen:338897"],"information_content":100.0}
{"id":"MONDO:0007424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 1","equivalent_identifiers":["MONDO:0007424","DOID:0110541","OMIM:124900","UMLS:C1852282","MESH:C565121","medgen:343767"],"information_content":100.0}
{"id":"MONDO:0007425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, sensorineural, with peripheral neuropathy and arterial disease","equivalent_identifiers":["MONDO:0007425","OMIM:124950","UMLS:C1852280","MESH:C565120","medgen:343766"],"information_content":100.0}
{"id":"MONDO:0007426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, unilateral","equivalent_identifiers":["MONDO:0007426","OMIM:125000","UMLS:C2607947","MESH:C567079","MEDDRA:10048812","MEDDRA:10048876","SNOMEDCT:162342008","medgen:435850","HP:0009900"],"information_content":100.0}
{"id":"MONDO:0007427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness with anhidrotic ectodermal dysplasia","equivalent_identifiers":["MONDO:0007427","OMIM:125050","UMLS:C1852279","MESH:C565119","medgen:342202"],"information_content":100.0}
{"id":"MONDO:0007428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-craniofacial syndrome","equivalent_identifiers":["MONDO:0007428","OMIM:125230","orphanet:3241","UMLS:C1852278","MESH:C565118","SNOMEDCT:716245003","medgen:342201"],"information_content":100.0}
{"id":"MONDO:0007429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy","equivalent_identifiers":["MONDO:0007429","OMIM:125250","UMLS:C3276549","medgen:478179"],"information_content":100.0}
{"id":"MONDO:0007430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dens evaginatus","equivalent_identifiers":["MONDO:0007430","OMIM:125280","UMLS:C0266034","UMLS:C0399357","UMLS:C4280335","MEDDRA:10088213","MEDDRA:10088242","SNOMEDCT:234955005","SNOMEDCT:63691004","medgen:78585","icd11.foundation:474468588","HP:0011087"],"information_content":100.0}
{"id":"MONDO:0007433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dementia/parkinsonism with non-Alzheimer amyloid plaques","equivalent_identifiers":["MONDO:0007433","OMIM:125320","UMLS:C1852223","MESH:C565115","medgen:338883"],"information_content":100.0}
{"id":"MONDO:0007434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary failure of tooth eruption","equivalent_identifiers":["MONDO:0007434","DOID:0111341","OMIM:125350","orphanet:412206","UMLS:C1852222","MESH:C565114","SNOMEDCT:1231153007","medgen:338882"],"information_content":100.0}
{"id":"MONDO:0007435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentatorubral-pallidoluysian atrophy","equivalent_identifiers":["MONDO:0007435","DOID:0060162","OMIM:125370","orphanet:101","UMLS:C0751781","UMLS:C2931846","MESH:C538427","MEDDRA:10075298","NCIT:C122653","SNOMEDCT:68116008","medgen:155630"],"information_content":100.0}
{"id":"MONDO:0007436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rootless teeth","equivalent_identifiers":["MONDO:0007436","OMIM:125400","orphanet:99789","UMLS:C0399379","UMLS:C3276551","UMLS:C4082200","MESH:C531665","MESH:C538215","SNOMEDCT:109493006","medgen:97996","HP:0011072"],"information_content":95.4}
{"id":"MONDO:0007437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentin dysplasia type II","equivalent_identifiers":["MONDO:0007437","OMIM:125420","orphanet:99791","UMLS:C0399380","SNOMEDCT:109494000","medgen:315928"],"information_content":100.0}
{"id":"MONDO:0007438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentin dysplasia-sclerotic bones syndrome","equivalent_identifiers":["MONDO:0007438","OMIM:125440","orphanet:99792","UMLS:C1852201","MESH:C538213","medgen:377618"],"information_content":100.0}
{"id":"MONDO:0007439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deoxyribose-5-phosphate aldolase deficiency","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0007439","OMIM:125460","UMLS:C1852200","MESH:C565112","medgen:377617"],"information_content":100.0}
{"id":"MONDO:0007440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"major affective disorder 1","equivalent_identifiers":["MONDO:0007440","OMIM:125480","UMLS:C1852197","MESH:C565111","medgen:377615"],"information_content":100.0}
{"id":"MONDO:0007441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentinogenesis imperfecta type 2","equivalent_identifiers":["MONDO:0007441","OMIM:125490","orphanet:166260","UMLS:C2973527","SNOMEDCT:234969005","medgen:424922","icd11.foundation:314718507"],"information_content":95.4}
{"id":"MONDO:0007442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentinogenesis imperfecta type 3","equivalent_identifiers":["MONDO:0007442","OMIM:125500","orphanet:166265","UMLS:C0399378","MESH:C538216","SNOMEDCT:234970006","medgen:97995","icd11.foundation:518257495"],"information_content":100.0}
{"id":"MONDO:0007443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital unilateral hypoplasia of depressor anguli oris","equivalent_identifiers":["MONDO:0007443","OMIM:125520","orphanet:1166","UMLS:C0431406","UMLS:C4280327","MESH:C535349","MEDDRA:10084253","MEDDRA:10085379","SNOMEDCT:1345055005","SNOMEDCT:51409009","medgen:140911","HP:0011333"],"information_content":100.0}
{"id":"MONDO:0007444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermal Ridges, patternless","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007444","OMIM:125540","UMLS:C1852160","MESH:C565109","medgen:343736"],"information_content":100.0}
{"id":"MONDO:0007445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatopathia pigmentosa reticularis","equivalent_identifiers":["MONDO:0007445","DOID:0111342","OMIM:125595","orphanet:86920","UMLS:C0406778","MESH:C535374","SNOMEDCT:239088003","medgen:98037"],"information_content":100.0}
{"id":"MONDO:0007446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatosis papulosa nigra","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007446","DOID:4400","OMIM:125600","EFO:1000686","UMLS:C0011645","MESH:C562379","MEDDRA:10057063","NCIT:C2984","SNOMEDCT:103672009","SNOMEDCT:254669003","medgen:4238","icd11.foundation:168986957","ICD10:L82"],"information_content":100.0}
{"id":"MONDO:0007447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant vibratory urticaria","equivalent_identifiers":["MONDO:0007447","OMIM:125630","orphanet:493342","UMLS:C1852146","MESH:C536347","SNOMEDCT:238694002"],"information_content":100.0}
{"id":"MONDO:0007448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatographia","equivalent_identifiers":["MONDO:0007448","DOID:743","OMIM:125635","EFO:1000685","UMLS:C0343065","UMLS:C1852145","MESH:C536612","MEDDRA:10012498","MEDDRA:10012499","MEDDRA:10012520","MEDDRA:10012521","MEDDRA:10084021","MEDDRA:10088774","NCIT:C111885","SNOMEDCT:402410006","SNOMEDCT:7632005","medgen:342170","ICD10:L50.3","ICD9:708.3","HP:0011971"],"information_content":100.0}
{"id":"MONDO:0007449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermo-odonto dysplasia","equivalent_identifiers":["MONDO:0007449","OMIM:125640","orphanet:1660","UMLS:C1852144","MESH:C565103","SNOMEDCT:721091003","medgen:377602"],"information_content":100.0}
{"id":"MONDO:0007450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurohypophyseal diabetes insipidus","equivalent_identifiers":["MONDO:0007450","DOID:0081059","DOID:12388","OMIM:125700","orphanet:30925","UMLS:C0342394","NCIT:C84933","SNOMEDCT:237696003","SNOMEDCT:45369008","medgen:574999","icd11.foundation:97299603"],"information_content":95.4}
{"id":"MONDO:0007451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes insipidus, nephrogenic, autosomal","equivalent_identifiers":["MONDO:0007451","DOID:0081061","OMIM:125800","UMLS:C1563706","medgen:289643"],"information_content":100.0}
{"id":"MONDO:0007452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 1","equivalent_identifiers":["MONDO:0007452","DOID:0111099","OMIM:125850","UMLS:C1852093","MESH:C565101","NCIT:C129744","SNOMEDCT:609562003","medgen:377589"],"information_content":100.0}
{"id":"MONDO:0007453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 2","equivalent_identifiers":["MONDO:0007453","DOID:0111100","OMIM:125851","UMLS:C0342277","MESH:C564219","NCIT:C129741","SNOMEDCT:237604008","medgen:87434"],"information_content":100.0}
{"id":"MONDO:0007454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 2","equivalent_identifiers":["MONDO:0007454","DOID:0110741","OMIM:125852","UMLS:C1852092","MESH:C565100","medgen:377588","ICD10:E10"],"information_content":100.0}
{"id":"MONDO:0007457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diastema, dental medial","equivalent_identifiers":["MONDO:0007457","OMIM:125900","UMLS:C1852086","MESH:C565098","medgen:342157"],"information_content":100.0}
{"id":"MONDO:0007458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digitotalar dysmorphism; ulnar drift, hereditary","equivalent_identifiers":["MONDO:0007458","OMIM:126050","UMLS:C1852085","medgen:342156"],"information_content":100.0}
{"id":"MONDO:0007460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"discrimination, Two-point, reduction 1N","equivalent_identifiers":["MONDO:0007460","OMIM:126180","UMLS:C1852074","medgen:343713"],"information_content":100.0}
{"id":"MONDO:0007461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-valvular heart disease-characteristic facies syndrome","equivalent_identifiers":["MONDO:0007461","OMIM:126190","orphanet:2868","UMLS:C1852073","MESH:C565094","medgen:338866"],"information_content":100.0}
{"id":"MONDO:0007465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distichiasis with congenital anomalies of the heart and peripheral vasculature","equivalent_identifiers":["MONDO:0007465","OMIM:126320","UMLS:C1852062","MESH:C565092","medgen:338862"],"information_content":100.0}
{"id":"MONDO:0007469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"double nail for fifth toe","equivalent_identifiers":["MONDO:0007469","OMIM:126500","UMLS:C1852023","MESH:C565090","medgen:343705"],"information_content":100.0}
{"id":"MONDO:0007470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"calvarial doughnut lesions-bone fragility syndrome","equivalent_identifiers":["MONDO:0007470","DOID:0080721","OMIM:126550","orphanet:85192","UMLS:C1852022","MESH:C565089","SNOMEDCT:720598005","medgen:377572"],"information_content":100.0}
{"id":"MONDO:0007471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Doyne honeycomb retinal dystrophy","equivalent_identifiers":["MONDO:0007471","DOID:0060745","OMIM:126600","orphanet:75376","UMLS:C1832174","MESH:C535602","SNOMEDCT:193411004","medgen:321900"],"information_content":100.0}
{"id":"MONDO:0007472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"basal laminar drusen","equivalent_identifiers":["MONDO:0007472","DOID:0060746","OMIM:126700","UMLS:C0730295","MESH:C563034","SNOMEDCT:312926005","medgen:152676"],"information_content":100.0}
{"id":"MONDO:0007473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Duane Syndrome","equivalent_identifiers":["MONDO:0007473","DOID:12557","OMIM.PS:126800","orphanet:233","UMLS:C0013261","UMLS:C1846464","UMLS:C4072873","MESH:D004370","MEDDRA:10013799","MEDDRA:10090415","MEDDRA:10090416","NCIT:C84678","SNOMEDCT:60318001","medgen:4413","ICD10:H50.81","ICD9:378.71","HP:0009921"],"information_content":89.4}
{"id":"MONDO:0007474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenal ulcer due to antral G-cell hyperfunction","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007474","OMIM:126840","UMLS:C1852009","MESH:C535721","medgen:338843"],"information_content":100.0}
{"id":"MONDO:0007475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenal ulcer, hyperpepsinogenemic 1","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007475","OMIM:126850","UMLS:C1852008","MESH:C565086","medgen:343701"],"information_content":100.0}
{"id":"MONDO:0007476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial Dupuytren contracture","equivalent_identifiers":["MONDO:0007476","OMIM:126900","EFO:0004229","UMLS:C0013312","UMLS:C0410062","UMLS:C1851997","UMLS:C1851998","MESH:C565083","MESH:C565084","MEDDRA:10010829","MEDDRA:10013872","MEDDRA:10049457","SNOMEDCT:203047009","SNOMEDCT:274142002","SNOMEDCT:410812005","SNOMEDCT:410813000","medgen:41672","HP:0005679"],"information_content":100.0}
{"id":"MONDO:0007477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-M syndrome","equivalent_identifiers":["MONDO:0007477","DOID:0060241","OMIM.PS:273750","orphanet:2616","UMLS:C1848862","MESH:C535314","MEDDRA:10081775","SNOMEDCT:702342007","medgen:336440"],"information_content":90.9}
{"id":"MONDO:0007478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Kenny-Caffey syndrome","equivalent_identifiers":["MONDO:0007478","DOID:0080723","OMIM:127000","orphanet:93325","UMLS:C4316787","NCIT:C130993","medgen:1373312"],"information_content":100.0}
{"id":"MONDO:0007479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dwarfism, Levi type","equivalent_identifiers":["MONDO:0007479","OMIM:127100","UMLS:C1851994","MESH:C565081","medgen:338837"],"information_content":100.0}
{"id":"MONDO:0007481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leri-Weill dyschondrosteosis","equivalent_identifiers":["MONDO:0007481","DOID:0060847","OMIM:127300","orphanet:240","UMLS:C0265309","MESH:C537119","MEDDRA:10071437","MEDDRA:10071439","NCIT:C126560","SNOMEDCT:17818006","medgen:75562"],"information_content":90.9}
{"id":"MONDO:0007483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyschromatosis symmetrica hereditaria","equivalent_identifiers":["MONDO:0007483","DOID:0060257","OMIM:127400","orphanet:41","UMLS:C0406775","MESH:C535729","NCIT:C118435","SNOMEDCT:239085000","medgen:96071"],"information_content":100.0}
{"id":"MONDO:0007486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary benign intraepithelial dyskeratosis","equivalent_identifiers":["MONDO:0007486","OMIM:127600","orphanet:352657","UMLS:C0265966","MESH:C562551","NCIT:C3940","SNOMEDCT:400014002","medgen:75588","icd11.foundation:2059594980"],"information_content":100.0}
{"id":"MONDO:0007487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyslexia, susceptibility to, 1","equivalent_identifiers":["MONDO:0007487","OMIM:127700","UMLS:C1851967","medgen:338828"],"information_content":100.0}
{"id":"MONDO:0007488","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lewy Bodies","equivalent_identifiers":["MONDO:0007488","DOID:12217","OMIM:127750","EFO:0006792","UMLS:C0085200","UMLS:C0752347","UMLS:C1851957","UMLS:C1851958","MESH:C565077","MESH:C565078","MESH:D020961","MEDDRA:10057095","MEDDRA:10067889","NCIT:C84826","SNOMEDCT:312991009","SNOMEDCT:43127003","SNOMEDCT:80098002","medgen:199874","ICD10:G31.83","ICD9:331.82","HP:0100315"],"information_content":90.9}
{"id":"MONDO:0007489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysplasia epiphysealis hemimelica","equivalent_identifiers":["MONDO:0007489","OMIM:127800","orphanet:1822","UMLS:C0432282","MESH:C537997","SNOMEDCT:205480005","medgen:96591","icd11.foundation:1995096940"],"information_content":100.0}
{"id":"MONDO:0007491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystelephalangy","equivalent_identifiers":["MONDO:0007491","OMIM:128000","UMLS:C1851955","MESH:C538000","medgen:343690"],"information_content":100.0}
{"id":"MONDO:0007492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset generalized limb-onset dystonia","equivalent_identifiers":["MONDO:0007492","DOID:0060730","OMIM:128100","orphanet:256","UMLS:C1851945","UMLS:C3888090","MESH:C538005","MEDDRA:10076668","NCIT:C116718","NCIT:C118780","medgen:338823"],"information_content":92.8}
{"id":"MONDO:0007493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsion dystonia 4","equivalent_identifiers":["MONDO:0007493","DOID:0090041","OMIM:128101","orphanet:98805","UMLS:C1851943","UMLS:C1860315","MESH:C536698","MESH:C538004","SNOMEDCT:719276005","medgen:342124"],"information_content":100.0}
{"id":"MONDO:0007495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 5","equivalent_identifiers":["MONDO:0007495","DOID:0090043","OMIM:128230","UMLS:C1851920","MEDDRA:10080034","SNOMEDCT:715768000","medgen:342121"],"information_content":100.0}
{"id":"MONDO:0007496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 12","equivalent_identifiers":["MONDO:0007496","DOID:0090056","OMIM:128235","orphanet:71517","UMLS:C1868681","MESH:C538001","MEDDRA:10083658","NCIT:C157577","SNOMEDCT:702323008","medgen:358384"],"information_content":100.0}
{"id":"MONDO:0007497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ear antitragus, tag at base of","equivalent_identifiers":["MONDO:0007497","OMIM:128290","UMLS:C1851905","medgen:343680"],"information_content":100.0}
{"id":"MONDO:0007498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ear exostoses","equivalent_identifiers":["MONDO:0007498","OMIM:128300","UMLS:C0155411","MEDDRA:10015689","SNOMEDCT:19560007","medgen:56363","HP:0004459"],"information_content":100.0}
{"id":"MONDO:0007499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ear folding","equivalent_identifiers":["MONDO:0007499","OMIM:128500","UMLS:C1851901","medgen:377546"],"information_content":100.0}
{"id":"MONDO:0007500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ear malformation","equivalent_identifiers":["MONDO:0007500","OMIM:128600","UMLS:C0266589","MEDDRA:10010451","MEDDRA:10014016","MEDDRA:10014017","MEDDRA:10045698","SNOMEDCT:275259005","medgen:75618","HP:0000598"],"information_content":54.0}
{"id":"MONDO:0007501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ear Dimple","equivalent_identifiers":["MONDO:0007501","OMIM:128700","UMLS:C0266610","UMLS:C0266625","UMLS:C0546969","MESH:C563015","MEDDRA:10036479","MEDDRA:10078780","MEDDRA:10083197","NCIT:C87071","SNOMEDCT:1955003","SNOMEDCT:204271000","SNOMEDCT:204272007","SNOMEDCT:716577004","medgen:154283","HP:0004467"],"information_content":100.0}
{"id":"MONDO:0007502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ear pits, posterior helical","equivalent_identifiers":["MONDO:0007502","OMIM:128710","UMLS:C1851900","UMLS:C3276675","medgen:342119"],"information_content":100.0}
{"id":"MONDO:0007503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ear without helix","equivalent_identifiers":["MONDO:0007503","OMIM:128800","UMLS:C1851899","medgen:343678"],"information_content":100.0}
{"id":"MONDO:0007504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thickened earlobes-conductive deafness syndrome","equivalent_identifiers":["MONDO:0007504","OMIM:128980","orphanet:2405","UMLS:C1851896","UMLS:C4302507","SNOMEDCT:722476007","medgen:343676"],"information_content":100.0}
{"id":"MONDO:0007507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BASAN syndrome","equivalent_identifiers":["MONDO:0007507","DOID:0080725","OMIM:129200","orphanet:1658","UMLS:C0406707","MESH:C537659","SNOMEDCT:239011004","medgen:140808","icd11.foundation:1298640608","KEGG.DISEASE:H02296"],"information_content":100.0}
{"id":"MONDO:0007508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rapp-Hodgkin syndrome","equivalent_identifiers":["MONDO:0007508","DOID:0060330","OMIM:129400","UMLS:C1706004","UMLS:C1785148","MESH:C535289","SNOMEDCT:7731005","medgen:315656","icd11.foundation:1455333054","HP:0007476"],"information_content":100.0}
{"id":"MONDO:0007509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant","equivalent_identifiers":["MONDO:0007509","DOID:0111663","OMIM:129490","UMLS:C3888065","medgen:854747"],"information_content":100.0}
{"id":"MONDO:0007510","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Clouston syndrome","equivalent_identifiers":["MONDO:0007510","DOID:14693","OMIM:129500","orphanet:189","UMLS:C0162361","MEDDRA:10073859","MEDDRA:10073864","SNOMEDCT:54209007","medgen:56416","HP:0007529"],"information_content":100.0}
{"id":"MONDO:0007511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia, trichoodontoonychial type","equivalent_identifiers":["MONDO:0007511","OMIM:129510","orphanet:1818","UMLS:C1851858","MESH:C565068","SNOMEDCT:734018003","medgen:338798"],"information_content":100.0}
{"id":"MONDO:0007513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia with adrenal cyst","equivalent_identifiers":["MONDO:0007513","OMIM:129550","UMLS:C1851850","MESH:C538015","medgen:342106"],"information_content":100.0}
{"id":"MONDO:0007514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectopia lentis 1, isolated, autosomal dominant","equivalent_identifiers":["MONDO:0007514","DOID:0111150","OMIM:129600","UMLS:C3541518","medgen:762106"],"information_content":100.0}
{"id":"MONDO:0007515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ectopic pupil","equivalent_identifiers":["MONDO:0007515","OMIM:129750","UMLS:C0271135","UMLS:C1271219","MESH:C536185","MEDDRA:10010983","SNOMEDCT:193523008","SNOMEDCT:392461003","medgen:224790","icd11.foundation:70138444","HP:0009918"],"information_content":100.0}
{"id":"MONDO:0007518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"edema, familial idiopathic, prepubertal","equivalent_identifiers":["MONDO:0007518","OMIM:129840","UMLS:C1851847","MESH:C565063","medgen:377535"],"information_content":100.0}
{"id":"MONDO:0007519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Edinburgh malformation syndrome","equivalent_identifiers":["MONDO:0007519","OMIM:129850","orphanet:1895","UMLS:C0795933","MESH:C563051","SNOMEDCT:771178004","medgen:167084"],"information_content":100.0}
{"id":"MONDO:0007520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1","equivalent_identifiers":["MONDO:0007520","DOID:0060784","OMIM:129900","UMLS:C1851841","MESH:C565062","medgen:343663"],"information_content":100.0}
{"id":"MONDO:0007522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, classic type","equivalent_identifiers":["MONDO:0007522","orphanet:287","UMLS:C4225429","SNOMEDCT:715318006","medgen:909864"],"information_content":92.8}
{"id":"MONDO:0007523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, hypermobility type","equivalent_identifiers":["MONDO:0007523","DOID:14757","OMIM:130020","orphanet:285","UMLS:C0268337","MESH:C536196","MEDDRA:10055058","NCIT:C125698","SNOMEDCT:30652003","medgen:75670","ICD10:Q79.62"],"information_content":100.0}
{"id":"MONDO:0007524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Ehlers-Danlos syndrome, vascular type","equivalent_identifiers":["MONDO:0007524","DOID:14756","OMIM:130050","UMLS:C0268339","medgen:541286"],"information_content":100.0}
{"id":"MONDO:0007525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, arthrochalasia type","equivalent_identifiers":["MONDO:0007525","DOID:0080727","OMIM:130060","orphanet:1899","UMLS:C4551623","MESH:C562625","NCIT:C125701","SNOMEDCT:4170004","medgen:1645042"],"information_content":92.8}
{"id":"MONDO:0007526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, spondylodysplastic type","equivalent_identifiers":["MONDO:0007526","DOID:0050802","orphanet:75496","UMLS:C1869122","MESH:C536201","SNOMEDCT:720861000"],"information_content":90.9}
{"id":"MONDO:0007527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, periodontitis type","equivalent_identifiers":["MONDO:0007527","orphanet:75392","UMLS:C0268347","MESH:C562626","SNOMEDCT:50869007","medgen:82791","icd11.foundation:893527307"],"information_content":92.8}
{"id":"MONDO:0007529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"elastosis perforans serpiginosa","equivalent_identifiers":["MONDO:0007529","OMIM:130100","orphanet:79148","UMLS:C0221271","MESH:C536202","MEDDRA:10014338","SNOMEDCT:49428008","medgen:65137","icd11.foundation:1430012917"],"information_content":100.0}
{"id":"MONDO:0007530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon","equivalent_identifiers":["MONDO:0007530","OMIM:130200","UMLS:C1851757","medgen:377516"],"information_content":100.0}
{"id":"MONDO:0007531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"electroencephalographic peculiarity: fronto-precentral beta wave groups","equivalent_identifiers":["MONDO:0007531","OMIM:130300","UMLS:C1851756","medgen:343646"],"information_content":100.0}
{"id":"MONDO:0007533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"elliptocytosis 2","equivalent_identifiers":["MONDO:0007533","OMIM:130600","UMLS:C1851741","MESH:C565058","medgen:343643"],"information_content":100.0}
{"id":"MONDO:0007535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"emphysema, hereditary pulmonary","equivalent_identifiers":["MONDO:0007535","OMIM:130700","UMLS:C1851718","MESH:C565057","medgen:338765"],"information_content":100.0}
{"id":"MONDO:0007536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital lobar emphysema","equivalent_identifiers":["MONDO:0007536","OMIM:130710","orphanet:1928","UMLS:C0265797","MESH:C535735","MEDDRA:10010456","NCIT:C98895","SNOMEDCT:47895001","SNOMEDCT:66987001","medgen:120557","icd11.foundation:685349915","HP:0033255"],"information_content":100.0}
{"id":"MONDO:0007537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lateral meningocele syndrome","equivalent_identifiers":["MONDO:0007537","DOID:0111343","OMIM:130720","orphanet:2789","UMLS:C1851710","MESH:C537878","medgen:342070"],"information_content":100.0}
{"id":"MONDO:0007538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta, type 3A","equivalent_identifiers":["MONDO:0007538","DOID:0110055","DOID:0111721","OMIM:130900","UMLS:C5886770","MESH:C562880","SNOMEDCT:109471001","medgen:1854533"],"information_content":100.0}
{"id":"MONDO:0007539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy, recurrent, of childhood","equivalent_identifiers":["MONDO:0007539","OMIM:130950","orphanet:2672","UMLS:C1851708","MESH:C536407","SNOMEDCT:1208339007","medgen:342069"],"information_content":100.0}
{"id":"MONDO:0007540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple endocrine neoplasia type 1","equivalent_identifiers":["MONDO:0007540","DOID:10017","OMIM:131100","UMLS:C0025267","UMLS:C3149237","MESH:D018761","MEDDRA:10026979","MEDDRA:10027180","MEDDRA:10028190","MEDDRA:10028194","MEDDRA:10073150","NCIT:C3225","SNOMEDCT:30664006","ICD10:E31.21","ICD9:258.01"],"information_content":88.2}
{"id":"MONDO:0007541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometriosis, susceptibility to, 1","equivalent_identifiers":["MONDO:0007541","OMIM:131200","UMLS:C1851649","medgen:338749"],"information_content":100.0}
{"id":"MONDO:0007542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Camurati-Engelmann disease","equivalent_identifiers":["MONDO:0007542","DOID:4997","OMIM:131300","orphanet:1328","UMLS:C0011989","MESH:D003966","MEDDRA:10087147","MEDDRA:10087161","MEDDRA:10088278","NCIT:C84610","SNOMEDCT:318761000119105","SNOMEDCT:34643004","medgen:4268","ICD10:Q78.3","HP:0100252"],"information_content":95.4}
{"id":"MONDO:0007544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilia, familial","equivalent_identifiers":["MONDO:0007544","OMIM:131400","UMLS:C0272192","MESH:C562722","SNOMEDCT:191358004","SNOMEDCT:79336007","medgen:78796"],"information_content":100.0}
{"id":"MONDO:0007545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eosinophilopenia","equivalent_identifiers":["MONDO:0007545","OMIM:131430","UMLS:C1851586","NCIT:C113712","medgen:343610"],"information_content":100.0}
{"id":"MONDO:0007546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloproliferative disorder, chronic, with eosinophilia","equivalent_identifiers":["MONDO:0007546","DOID:0111344","OMIM:131440","UMLS:C1851585","MESH:C565054","medgen:377060","HP:0006782"],"information_content":100.0}
{"id":"MONDO:0007547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Epithelial cyst","equivalent_identifiers":["MONDO:0007547","OMIM:131600","EFO:1000243","UMLS:C0014511","UMLS:C0259770","UMLS:C1314741","MESH:D004814","MEDDRA:10011738","MEDDRA:10011752","MEDDRA:10014983","MEDDRA:10014984","MEDDRA:10039778","MEDDRA:10058635","MEDDRA:10079604","NCIT:C3018","NCIT:C3134","SNOMEDCT:399999000","SNOMEDCT:417992006","SNOMEDCT:418323001","SNOMEDCT:418630001","SNOMEDCT:418930003","SNOMEDCT:419366003","SNOMEDCT:419603000","SNOMEDCT:419670003","SNOMEDCT:419893006","medgen:41829","HP:0200040"],"information_content":90.9}
{"id":"MONDO:0007548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient bullous dermolysis of the newborn","equivalent_identifiers":["MONDO:0007548","DOID:0111345","OMIM:131705","orphanet:79411","UMLS:C1851573","MESH:C536979","SNOMEDCT:723553000","medgen:343607"],"information_content":100.0}
{"id":"MONDO:0007549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized dominant dystrophic epidermolysis bullosa","equivalent_identifiers":["MONDO:0007549","DOID:0080224","OMIM:131750","orphanet:231568","UMLS:C0079136","UMLS:C0432322","MESH:C535956","MEDDRA:10087378","SNOMEDCT:111389006","SNOMEDCT:1231284001","SNOMEDCT:75875004","medgen:140935"],"information_content":100.0}
{"id":"MONDO:0007550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 1A, generalized severe","equivalent_identifiers":["MONDO:0007550","DOID:0060735","OMIM:131760","orphanet:79396","UMLS:C0079295","SNOMEDCT:254179000","medgen:38194","ICD10:Q81.0"],"information_content":100.0}
{"id":"MONDO:0007551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 1C, localized","equivalent_identifiers":["MONDO:0007551","DOID:0080510","OMIM:131800","orphanet:79400","UMLS:C0080333","SNOMEDCT:294705005","medgen:87016"],"information_content":100.0}
{"id":"MONDO:0007552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pretibial dystrophic epidermolysis bullosa","equivalent_identifiers":["MONDO:0007552","DOID:0080988","OMIM:131850","orphanet:79410","UMLS:C0432321","MESH:C535494","SNOMEDCT:67653003","medgen:98154","HP:0012221"],"information_content":100.0}
{"id":"MONDO:0007553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase","equivalent_identifiers":["MONDO:0007553","OMIM:131880","UMLS:C1851570","MESH:C565049","medgen:342036"],"information_content":100.0}
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{"id":"MONDO:0007555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 5A, Ogna type","equivalent_identifiers":["MONDO:0007555","DOID:0060736","OMIM:131950","orphanet:79401","UMLS:C0432317","MESH:C535962","SNOMEDCT:398071000","medgen:98488"],"information_content":100.0}
{"id":"MONDO:0007556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 2F, with mottled pigmentation","equivalent_identifiers":["MONDO:0007556","DOID:0111346","OMIM:131960","orphanet:79397","UMLS:C0432316","MESH:C535959","SNOMEDCT:254180002","medgen:140934"],"information_content":100.0}
{"id":"MONDO:0007557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa with congenital localized absence of skin and deformity of nails","equivalent_identifiers":["MONDO:0007557","DOID:0111347","OMIM:132000","UMLS:C0268371","MESH:C562638","SNOMEDCT:2689001","medgen:82797"],"information_content":100.0}
{"id":"MONDO:0007558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"self-limited childhood occipital epilepsy","equivalent_identifiers":["MONDO:0007558","OMIM:132090","orphanet:25968","UMLS:C1851549","SNOMEDCT:770623004","medgen:377052","icd11.foundation:49954675"],"information_content":92.8}
{"id":"MONDO:0007559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"photoparoxysmal response 1","equivalent_identifiers":["MONDO:0007559","OMIM:132100","UMLS:C1868677","medgen:358382"],"information_content":100.0}
{"id":"MONDO:0007560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reading seizures","equivalent_identifiers":["MONDO:0007560","OMIM:132300","orphanet:166433","UMLS:C0278193","SNOMEDCT:7689009","medgen:75817"],"information_content":100.0}
{"id":"MONDO:0007561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia type 1","equivalent_identifiers":["MONDO:0007561","DOID:0070303","OMIM:132400","orphanet:93308","UMLS:C1838280","UMLS:C1851538","MESH:C535501","SNOMEDCT:715673002","medgen:325376","icd11.foundation:2130489957"],"information_content":100.0}
{"id":"MONDO:0007562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia, Beighton type","equivalent_identifiers":["MONDO:0007562","DOID:0111348","OMIM:132450","UMLS:C1851536","UMLS:C4304499","MESH:C565046","SNOMEDCT:719689005","medgen:377049","icd11.foundation:1115252418"],"information_content":100.0}
{"id":"MONDO:0007564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pilomatrixoma","equivalent_identifiers":["MONDO:0007564","DOID:5374","OMIM:132600","orphanet:91414","EFO:0009082","UMLS:C0206711","MESH:D018296","MEDDRA:10035040","NCIT:C7368","SNOMEDCT:274901004","SNOMEDCT:44155009","medgen:61666","icd11.foundation:378820295","HP:0030434"],"information_content":89.4}
{"id":"MONDO:0007568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm, familial thoracic 4","equivalent_identifiers":["MONDO:0007568","OMIM:132900","UMLS:C1851504","MESH:C537784","medgen:338704"],"information_content":100.0}
{"id":"MONDO:0007569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythema nodosum, familial","equivalent_identifiers":["MONDO:0007569","OMIM:132990","UMLS:C1851503","MESH:C535510","medgen:377045"],"information_content":100.0}
{"id":"MONDO:0007570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythema palmare hereditarium","equivalent_identifiers":["MONDO:0007570","OMIM:133000","orphanet:231031","UMLS:C1851502","MESH:C565041","SNOMEDCT:763767006","medgen:343587"],"information_content":100.0}
{"id":"MONDO:0007571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary erythermalgia","equivalent_identifiers":["MONDO:0007571","OMIM:133020","orphanet:90026","UMLS:C0014805","NCIT:C125383","SNOMEDCT:403390002","SNOMEDCT:709489006","medgen:8688"],"information_content":100.0}
{"id":"MONDO:0007572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary familial polycythemia due to EPO receptor mutation","equivalent_identifiers":["MONDO:0007572","DOID:0060652","OMIM:133100","orphanet:90042","UMLS:C4551637","MESH:C536842","SNOMEDCT:17342003","medgen:1641215","icd11.foundation:962836252","ICD10:D75.0"],"information_content":100.0}
{"id":"MONDO:0007574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 34","equivalent_identifiers":["MONDO:0007574","DOID:0050981","OMIM:133190","orphanet:1955","UMLS:C1851481","MESH:C535738","SNOMEDCT:719255000","medgen:338703"],"information_content":100.0}
{"id":"MONDO:0007576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal cancer","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0007576","DOID:5041","OMIM:133239","UMLS:C0153413","UMLS:C0153414","UMLS:C0153415","UMLS:C0153416","UMLS:C0345779","UMLS:C0546837","UMLS:C2751126","UMLS:C3149254","UMLS:C3149255","MEDDRA:10015362","MEDDRA:10015363","MEDDRA:10025899","MEDDRA:10025900","MEDDRA:10025901","MEDDRA:10026104","MEDDRA:10026105","MEDDRA:10026150","MEDDRA:10026151","MEDDRA:10026180","MEDDRA:10026181","MEDDRA:10026182","MEDDRA:10026583","MEDDRA:10026584","MEDDRA:10030151","MEDDRA:10030152","MEDDRA:10030176","NCIT:C3533","NCIT:C3534","NCIT:C3535","NCIT:C7478","SNOMEDCT:187725002","SNOMEDCT:187726001","SNOMEDCT:187727005","SNOMEDCT:254547001","SNOMEDCT:363402007","medgen:107792","ICD10:C15.3","ICD10:C15.4","ICD10:C15.5","ICD9:150.2","ICD9:150.3","ICD9:150.4","ICD9:150.5","ICD9:150.8"],"information_content":64.8}
{"id":"MONDO:0007577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal ring, lower","equivalent_identifiers":["MONDO:0007577","OMIM:133240","UMLS:C0341137","MESH:C562765","SNOMEDCT:235623002","medgen:83320"],"information_content":100.0}
{"id":"MONDO:0007581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exchondrosis of pinna, posterior","equivalent_identifiers":["MONDO:0007581","OMIM:133500","UMLS:C1851463","MESH:C565036","medgen:377032"],"information_content":100.0}
{"id":"MONDO:0007584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exostoses-anetodermia-brachydactyly type E syndrome","equivalent_identifiers":["MONDO:0007584","OMIM:133690","orphanet:1962","UMLS:C1851428","MESH:C565034","medgen:338695"],"information_content":100.0}
{"id":"MONDO:0007587","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"external auditory canal atresia-vertical talus-hypertelorism syndrome","equivalent_identifiers":["MONDO:0007587","OMIM:133705","orphanet:3023","UMLS:C1876181","MESH:C566245","medgen:361813"],"information_content":100.0}
{"id":"MONDO:0007588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extrasystoles-short stature-hyperpigmentation-microcephaly syndrome","equivalent_identifiers":["MONDO:0007588","OMIM:133750","orphanet:1964","UMLS:C1851412","MESH:C565032","medgen:343564"],"information_content":100.0}
{"id":"MONDO:0007589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exudative vitreoretinopathy 1","equivalent_identifiers":["MONDO:0007589","DOID:0111412","OMIM:133780","UMLS:C1851402","MESH:C536382","NCIT:C175048","medgen:343561"],"information_content":100.0}
{"id":"MONDO:0007590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemifacial hypertrophy","equivalent_identifiers":["MONDO:0007590","OMIM:133900","orphanet:141145","UMLS:C1399354","MESH:C563014","SNOMEDCT:697962004","medgen:452987","icd11.foundation:2090544963","HP:0005323"],"information_content":100.0}
{"id":"MONDO:0007592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial recurrent peripheral facial palsy","equivalent_identifiers":["MONDO:0007592","OMIM:134200","orphanet:2809","UMLS:C1851399","MESH:C565028","SNOMEDCT:783257005","medgen:342742"],"information_content":100.0}
{"id":"MONDO:0007593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial spasm","equivalent_identifiers":["MONDO:0007593","OMIM:134300","UMLS:C0278151","UMLS:C0338467","UMLS:C0858722","UMLS:C4280324","UMLS:C4280325","MEDDRA:10045200","MEDDRA:10063006","MEDDRA:10088042","SNOMEDCT:230335009","SNOMEDCT:32402008","medgen:124458","HP:0011468"],"information_content":100.0}
{"id":"MONDO:0007594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor 5 excess with spontaneous thrombosis","equivalent_identifiers":["MONDO:0007594","OMIM:134400","UMLS:C1851378","MESH:C565026","medgen:341996"],"information_content":100.0}
{"id":"MONDO:0007595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor VII and Factor VIII, combined deficiency of","equivalent_identifiers":["MONDO:0007595","OMIM:134430","UMLS:C1851377","MESH:C565025","medgen:341995"],"information_content":100.0}
{"id":"MONDO:0007597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor VIII and Factor IX, combined deficiency of","equivalent_identifiers":["MONDO:0007597","OMIM:134510","UMLS:C1851376","MESH:C565024","medgen:341994"],"information_content":100.0}
{"id":"MONDO:0007599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor 9 and Factor XI, combined deficiency of","equivalent_identifiers":["MONDO:0007599","OMIM:134540","UMLS:C1851374","MESH:C565022","medgen:377012"],"information_content":100.0}
{"id":"MONDO:0007600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary Fanconi syndrome","equivalent_identifiers":["MONDO:0007600","orphanet:3337","UMLS:C1857395","MEDDRA:10011871","MEDDRA:10052606","NCIT:C123229","medgen:341765"],"information_content":90.9}
{"id":"MONDO:0007601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial Mediterranean fever, autosomal dominant","equivalent_identifiers":["MONDO:0007601","OMIM:134610","UMLS:C1851347","MESH:C565021","medgen:341987"],"information_content":100.0}
{"id":"MONDO:0007603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Felty syndrome","equivalent_identifiers":["MONDO:0007603","DOID:11042","OMIM:134750","orphanet:47612","EFO:0007269","UMLS:C0015773","MESH:D005258","MEDDRA:10016386","NCIT:C84712","SNOMEDCT:57160007","medgen:4674","ICD10:M05.0","ICD9:714.1"],"information_content":100.0}
{"id":"MONDO:0007604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"femoral-facial syndrome","equivalent_identifiers":["MONDO:0007604","OMIM:134780","orphanet:1988","UMLS:C0265263","MESH:C537916","MEDDRA:10083944","SNOMEDCT:13280000","medgen:120523","icd11.foundation:505576809"],"information_content":100.0}
{"id":"MONDO:0007605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrinolytic defect","equivalent_identifiers":["MONDO:0007605","OMIM:134900","UMLS:C1851184","MESH:C565017","medgen:338221"],"information_content":100.0}
{"id":"MONDO:0007606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrodysplasia ossificans progressiva","equivalent_identifiers":["MONDO:0007606","DOID:13374","OMIM:135100","orphanet:337","UMLS:C0016037","MEDDRA:10036809","MEDDRA:10068715","NCIT:C3040","SNOMEDCT:82725007","medgen:4698","icd11.foundation:2102976705","ICD10:M61.1","ICD9:728.11"],"information_content":92.8}
{"id":"MONDO:0007608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"desmoid tumor","equivalent_identifiers":["MONDO:0007608","DOID:0080366","OMIM:135290","orphanet:873","EFO:0009907","UMLS:C1851124","UMLS:CN072436","MESH:C535944","MESH:D018222","NCIT:C9182","medgen:38187"],"information_content":82.6}
{"id":"MONDO:0007609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibromatosis, gingival, 1","equivalent_identifiers":["MONDO:0007609","OMIM:135300","UMLS:C4551558","medgen:1647111"],"information_content":100.0}
{"id":"MONDO:0007610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gingival fibromatosis-hypertrichosis syndrome","equivalent_identifiers":["MONDO:0007610","OMIM:135400","orphanet:2026","UMLS:C1851120","UMLS:C4274889","MESH:C565016","SNOMEDCT:716008002","medgen:342675"],"information_content":100.0}
{"id":"MONDO:0007612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jones syndrome","equivalent_identifiers":["MONDO:0007612","OMIM:135550","orphanet:2027","UMLS:C1851112","MESH:C535886","SNOMEDCT:722449007","medgen:341928"],"information_content":100.0}
{"id":"MONDO:0007614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital fibrosis of extraocular muscles","equivalent_identifiers":["MONDO:0007614","DOID:0080143","OMIM.PS:135700","orphanet:45358","UMLS:C1302995","MESH:C580012","SNOMEDCT:400946004","medgen:724506","icd11.foundation:887449084","HP:0001491"],"information_content":85.5}
{"id":"MONDO:0007615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laurin-Sandrow syndrome","equivalent_identifiers":["MONDO:0007615","DOID:0111350","OMIM:135750","orphanet:2378","UMLS:C1851100","UMLS:C1851101","UMLS:C5700308","MESH:C535689","SNOMEDCT:1255267007","SNOMEDCT:715440003","medgen:340697","icd11.foundation:671594481","HP:0010689"],"information_content":92.8}
{"id":"MONDO:0007617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coffin-Siris syndrome 1","equivalent_identifiers":["MONDO:0007617","DOID:0070042","OMIM:135900","UMLS:C3281201","MESH:C538391","medgen:482831"],"information_content":100.0}
{"id":"MONDO:0007618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eng-Strom syndrome","equivalent_identifiers":["MONDO:0007618","OMIM:135950","orphanet:1937","UMLS:C1851081","medgen:338204"],"information_content":100.0}
{"id":"MONDO:0007619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adermatoglyphia","equivalent_identifiers":["MONDO:0007619","DOID:0111357","OMIM:136000","orphanet:289465","UMLS:C1852150","UMLS:C4706567","MESH:C565010","MEDDRA:10076974","SNOMEDCT:763748007","medgen:338875","HP:0007455"],"information_content":100.0}
{"id":"MONDO:0007620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fish eye disease","equivalent_identifiers":["MONDO:0007620","OMIM:136120","orphanet:79292","UMLS:C0342895","MEDDRA:10077927","SNOMEDCT:238092004","medgen:83354"],"information_content":100.0}
{"id":"MONDO:0007621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Floating-Harbor syndrome","equivalent_identifiers":["MONDO:0007621","DOID:0111358","OMIM:136140","orphanet:2044","UMLS:C0729582","MESH:C537062","MEDDRA:10079943","NCIT:C175241","SNOMEDCT:312214005","medgen:152667","icd11.foundation:2101730645"],"information_content":100.0}
{"id":"MONDO:0007624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Flynn-Aird syndrome","equivalent_identifiers":["MONDO:0007624","OMIM:136300","orphanet:2047","UMLS:C0343108","MESH:C537066","SNOMEDCT:239056006","medgen:91009"],"information_content":100.0}
{"id":"MONDO:0007625","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal epithelial hyperplasia of the oral mucosa","equivalent_identifiers":["MONDO:0007625","OMIM:136400","UMLS:C1851009","MESH:C565008","medgen:340674","HP:0410340"],"information_content":100.0}
{"id":"MONDO:0007626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial congenital palsy of trochlear nerve","equivalent_identifiers":["MONDO:0007626","OMIM:136480","orphanet:91498","UMLS:C1850996","MESH:C565007","SNOMEDCT:782679002","medgen:338185"],"information_content":100.0}
{"id":"MONDO:0007627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal facial dermal dysplasia type I","equivalent_identifiers":["MONDO:0007627","OMIM:136500","orphanet:79133","UMLS:C5235196","SNOMEDCT:789157007","medgen:1718224"],"information_content":100.0}
{"id":"MONDO:0007628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"foveal hypoplasia 1","equivalent_identifiers":["MONDO:0007628","DOID:0070530","OMIM:136520","UMLS:C3805604","medgen:811934"],"information_content":100.0}
{"id":"MONDO:0007630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"North Carolina macular dystrophy","equivalent_identifiers":["MONDO:0007630","DOID:0070439","OMIM:136550","orphanet:75327","UMLS:C0730294","MESH:C537835","NCIT:C168999","SNOMEDCT:312925009","medgen:147590","icd11.foundation:1931008217"],"information_content":100.0}
{"id":"MONDO:0007631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 16p12.1 deletion syndrome, 520kb","equivalent_identifiers":["MONDO:0007631","DOID:0060399","OMIM:136570","UMLS:C1850985","UMLS:C3149276","UMLS:C5574897","MESH:C565001","NCIT:C129875","medgen:460626"],"information_content":100.0}
{"id":"MONDO:0007633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness","equivalent_identifiers":["MONDO:0007633","OMIM:136600","UMLS:C1850982","MESH:C564999","medgen:376920"],"information_content":100.0}
{"id":"MONDO:0007634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, FRA12A type","equivalent_identifiers":["MONDO:0007634","DOID:0061049","OMIM:136630","UMLS:C1969893","MESH:C566980","medgen:369613"],"information_content":100.0}
{"id":"MONDO:0007635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Frasier syndrome","equivalent_identifiers":["MONDO:0007635","DOID:0050438","OMIM:136680","orphanet:347","UMLS:C0950122","MESH:D052159","MEDDRA:10080313","NCIT:C122805","SNOMEDCT:445431000","medgen:215533","icd11.foundation:1659542949"],"information_content":100.0}
{"id":"MONDO:0007636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontorhiny","equivalent_identifiers":["MONDO:0007636","DOID:0081045","OMIM:136760","orphanet:391474","UMLS:C5574965","NCIT:C129028","SNOMEDCT:1230021007","medgen:1803615"],"information_content":100.0}
{"id":"MONDO:0007637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal dystrophy, Fuchs endothelial, 1","equivalent_identifiers":["MONDO:0007637","OMIM:136800","UMLS:C1850959","MESH:C535478","medgen:338172"],"information_content":100.0}
{"id":"MONDO:0007639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fundus albipunctatus","equivalent_identifiers":["MONDO:0007639","DOID:11105","OMIM:136880","orphanet:227796","UMLS:C0311338","MESH:C562733","SNOMEDCT:68222009","SNOMEDCT:764939004","medgen:86317","icd11.foundation:1981512475","HP:0030642"],"information_content":95.4}
{"id":"MONDO:0007640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sorsby fundus dystrophy","equivalent_identifiers":["MONDO:0007640","DOID:0090114","OMIM:136900","orphanet:59181","UMLS:C1850938","MESH:C564992","SNOMEDCT:193410003","medgen:338164","icd11.foundation:796458172"],"information_content":95.4}
{"id":"MONDO:0007642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated agenesis of gallbladder","equivalent_identifiers":["MONDO:0007642","OMIM:137040","orphanet:440987","UMLS:C0266251","MESH:C562564","MEDDRA:10079018","SNOMEDCT:302953002","SNOMEDCT:86507001","medgen:82736","HP:0011467"],"information_content":95.4}
{"id":"MONDO:0007643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gamma-A-globulin, defect in assembly of","equivalent_identifiers":["MONDO:0007643","OMIM:137050","UMLS:C1850934","MESH:C564991","medgen:342627"],"information_content":100.0}
{"id":"MONDO:0007644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgAD1","equivalent_identifiers":["MONDO:0007644","OMIM:137100","UMLS:C2931161","MESH:C536290","NCIT:C123434","medgen:419725"],"information_content":100.0}
{"id":"MONDO:0007646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gamstorp-Wohlfart syndrome","equivalent_identifiers":["MONDO:0007646","DOID:0050526","OMIM:137200","orphanet:324442","UMLS:C5700127","SNOMEDCT:711406009","medgen:1814513","icd11.foundation:1738677442"],"information_content":100.0}
{"id":"MONDO:0007648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary diffuse gastric adenocarcinoma","equivalent_identifiers":["MONDO:0007648","DOID:0080764","OMIM:137215","orphanet:26106","UMLS:C1708349","UMLS:C4721859","UMLS:C5677027","NCIT:C43295","SNOMEDCT:716859000","medgen:310839"],"information_content":92.8}
{"id":"MONDO:0007650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MALT lymphoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0007650","DOID:0050909","OMIM:137245","orphanet:52417","EFO:0000191","UMLS:C0242647","UMLS:C1367652","UMLS:C1850900","MESH:C535648","MESH:D018442","MEDDRA:10060707","MEDDRA:10081368","MEDDRA:10082405","NCIT:C3898","NCIT:C5264","SNOMEDCT:128803008","SNOMEDCT:277622004","SNOMEDCT:397350003","SNOMEDCT:445269007","medgen:66942"],"information_content":75.8}
{"id":"MONDO:0007651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastrocutaneous syndrome","equivalent_identifiers":["MONDO:0007651","OMIM:137270","orphanet:2069","UMLS:C1850899","MESH:C535651","SNOMEDCT:782946000","medgen:338154","icd11.foundation:1431211717"],"information_content":100.0}
{"id":"MONDO:0007652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric mucosal hypertrophy","equivalent_identifiers":["MONDO:0007652","DOID:8757","OMIM:137280","orphanet:2494","EFO:1000946","UMLS:C0017155","UMLS:C2936660","MESH:D005758","MEDDRA:10017807","MEDDRA:10017868","MEDDRA:10057029","MEDDRA:10062567","NCIT:C67277","SNOMEDCT:413219009","SNOMEDCT:60002000","medgen:4844","icd11.foundation:1343994188","ICD9:535.2","HP:0005246"],"information_content":100.0}
{"id":"MONDO:0007653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"genochondromatosis","equivalent_identifiers":["MONDO:0007653","OMIM:137360","UMLS:C1300229","MESH:C563215","SNOMEDCT:389264005","medgen:224887","icd11.foundation:1222756922"],"information_content":92.8}
{"id":"MONDO:0007655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fissured tongue","equivalent_identifiers":["MONDO:0007655","DOID:11514","OMIM:137400","UMLS:C0040412","UMLS:C4540616","MESH:D014063","MEDDRA:10035630","MEDDRA:10072002","MEDDRA:10072003","MEDDRA:10086802","SNOMEDCT:52368004","medgen:1624209","icd11.foundation:699700094","ICD10:K14.5","ICD9:529.5","HP:0000221"],"information_content":95.4}
{"id":"MONDO:0007656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gerstmann-Straussler-Scheinker syndrome","equivalent_identifiers":["MONDO:0007656","DOID:4249","OMIM:137440","orphanet:356","UMLS:C0017495","UMLS:C2931022","UMLS:C3805618","MESH:C535800","MESH:D016098","MEDDRA:10072075","MEDDRA:10072102","NCIT:C84727","SNOMEDCT:67155006","medgen:4886","icd11.foundation:406818835","ICD10:A81.82","ICD9:046.71"],"information_content":100.0}
{"id":"MONDO:0007657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"giant neutrophil leukocytes","equivalent_identifiers":["MONDO:0007657","OMIM:137500","UMLS:C1842039","medgen:330754"],"information_content":100.0}
{"id":"MONDO:0007660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial ossifying fibroma","equivalent_identifiers":["MONDO:0007660","OMIM:137575","orphanet:435329","UMLS:C3495361","MESH:C563017","MEDDRA:10081225","NCIT:C202219","medgen:501159"],"information_content":100.0}
{"id":"MONDO:0007661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tourette syndrome","equivalent_identifiers":["MONDO:0007661","DOID:11119","OMIM:137580","EFO:0004895","UMLS:C0040517","UMLS:C1392622","MESH:C563241","MESH:D005879","MEDDRA:10018268","MEDDRA:10018269","MEDDRA:10018271","MEDDRA:10018768","MEDDRA:10042808","MEDDRA:10044126","MEDDRA:10044127","NCIT:C35078","SNOMEDCT:5158005","medgen:21219","icd11.foundation:119340957","ICD10:F95.2","ICD9:307.23"],"information_content":90.9}
{"id":"MONDO:0007662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior segment dysgenesis 4","equivalent_identifiers":["MONDO:0007662","DOID:0080609","OMIM:137600","UMLS:C1842031","MESH:C535536","medgen:330750"],"information_content":100.0}
{"id":"MONDO:0007664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma 1, open angle, A","equivalent_identifiers":["MONDO:0007664","OMIM:137750","UMLS:C1842028","MESH:C564234","medgen:333974"],"information_content":100.0}
{"id":"MONDO:0007666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma-sleep apnea syndrome","equivalent_identifiers":["MONDO:0007666","OMIM:137763","orphanet:2085","UMLS:C1842025","MESH:C564232","medgen:330749"],"information_content":100.0}
{"id":"MONDO:0007667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subependymoma","equivalent_identifiers":["MONDO:0007667","DOID:4843","orphanet:251639","EFO:1000553","EFO:1001197","UMLS:C0206725","MESH:D018315","MEDDRA:10090830","NCIT:C3795","SNOMEDCT:4553004","medgen:64637"],"information_content":95.4}
{"id":"MONDO:0007668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"globulin anomaly involving beta (2A)-globulin","equivalent_identifiers":["MONDO:0007668","OMIM:137900","UMLS:C1842009","MESH:C564229","medgen:330741"],"information_content":100.0}
{"id":"MONDO:0007669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal cysts and diabetes syndrome","equivalent_identifiers":["MONDO:0007669","DOID:0111101","OMIM:137920","orphanet:93111","UMLS:C0431693","MESH:C535520","NCIT:C123018","SNOMEDCT:253864004","SNOMEDCT:446641003","SNOMEDCT:609572000","medgen:96569"],"information_content":100.0}
{"id":"MONDO:0007670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis-lymphedema-telangiectasia syndrome (grouping)","equivalent_identifiers":["MONDO:0007670","orphanet:69735"],"information_content":92.8}
{"id":"MONDO:0007671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibronectin glomerulopathy","equivalent_identifiers":["MONDO:0007671","OMIM.PS:137950","orphanet:84090","UMLS:C3888104","MESH:C536826","MESH:C562900","SNOMEDCT:236535001","SNOMEDCT:818952002","medgen:854773","icd11.foundation:1877494378"],"information_content":92.8}
{"id":"MONDO:0007672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomuvenous malformation","equivalent_identifiers":["MONDO:0007672","DOID:7996","OMIM:138000","orphanet:83454","UMLS:C1333987","UMLS:C1841984","MESH:C536827","NCIT:C5350","SNOMEDCT:715644000","medgen:374834","icd11.foundation:2095305475"],"information_content":100.0}
{"id":"MONDO:0007673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glucoglycinuria","equivalent_identifiers":["MONDO:0007673","OMIM:138070","UMLS:C0268536","MESH:C562670","SNOMEDCT:9111008","medgen:78686","icd11.foundation:2034546543"],"information_content":100.0}
{"id":"MONDO:0007677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperglycinuria","equivalent_identifiers":["MONDO:0007677","OMIM:138500","UMLS:C0341706","UMLS:C0543541","MESH:C563009","SNOMEDCT:236477004","medgen:107456","HP:0003108"],"information_content":95.4}
{"id":"MONDO:0007679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GMS syndrome","equivalent_identifiers":["MONDO:0007679","OMIM:138770","orphanet:2090","UMLS:C1841854","MESH:C564214","SNOMEDCT:716024001","medgen:374804"],"information_content":100.0}
{"id":"MONDO:0007680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multinodular goiter-cystic kidney-polydactyly syndrome","equivalent_identifiers":["MONDO:0007680","OMIM:138790","orphanet:2091","UMLS:C1841853","MESH:C535986","SNOMEDCT:723409007","medgen:333929"],"information_content":100.0}
{"id":"MONDO:0007683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Grant syndrome","equivalent_identifiers":["MONDO:0007683","OMIM:138930","orphanet:2097","UMLS:C1841835","MESH:C537293","SNOMEDCT:723827003","medgen:333925","icd11.foundation:1320218486"],"information_content":100.0}
{"id":"MONDO:0007685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulosis rubra nasi","equivalent_identifiers":["MONDO:0007685","OMIM:139000","UMLS:C0263471","MESH:C562483","SNOMEDCT:22818000","medgen:78096","icd11.foundation:1871134805"],"information_content":100.0}
{"id":"MONDO:0007686","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gray platelet syndrome","equivalent_identifiers":["MONDO:0007686","DOID:0111044","OMIM:139090","orphanet:721","UMLS:C0272302","MESH:D055652","NCIT:C84741","SNOMEDCT:51720005","medgen:82900","icd11.foundation:1818085572","ICD10:D69.1"],"information_content":100.0}
{"id":"MONDO:0007688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myhre syndrome","equivalent_identifiers":["MONDO:0007688","OMIM:139210","orphanet:2588","UMLS:C0796081","MESH:C537620","NCIT:C123815","SNOMEDCT:699316006","medgen:167103"],"information_content":100.0}
{"id":"MONDO:0007690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aromatase excess syndrome","equivalent_identifiers":["MONDO:0007690","DOID:0090122","OMIM:139300","orphanet:178345","UMLS:C1970109","MESH:C000591739","SNOMEDCT:709075008","medgen:409989","icd11.foundation:191989744","ICD10:E30.1"],"information_content":100.0}
{"id":"MONDO:0007691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Guillain-Barre syndrome, familial","equivalent_identifiers":["MONDO:0007691","OMIM:139393","EFO:0009538","UMLS:C4083008","SNOMEDCT:716723000","medgen:901636"],"information_content":100.0}
{"id":"MONDO:0007693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hairy elbows","equivalent_identifiers":["MONDO:0007693","OMIM:139600","orphanet:2220","UMLS:C4025295","MESH:C535618","MEDDRA:10068636","medgen:870835","HP:0004780"],"information_content":100.0}
{"id":"MONDO:0007694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hairy nose tip","equivalent_identifiers":["MONDO:0007694","OMIM:139630","UMLS:C1841695","MESH:C535619","medgen:333893"],"information_content":100.0}
{"id":"MONDO:0007695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hairy palms and soles","equivalent_identifiers":["MONDO:0007695","OMIM:139650","UMLS:C1841694","MESH:C535620","medgen:330667"],"information_content":100.0}
{"id":"MONDO:0007696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Emery-Nelson syndrome","equivalent_identifiers":["MONDO:0007696","OMIM:139750","orphanet:1927","UMLS:C1841693","MESH:C535626","medgen:333892"],"information_content":100.0}
{"id":"MONDO:0007698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hand-foot-genital syndrome","equivalent_identifiers":["MONDO:0007698","DOID:0060739","OMIM:140000","orphanet:2438","UMLS:C1841679","MESH:C535627","MEDDRA:10072361","SNOMEDCT:702425002","medgen:331103","ICD10:Q51.2"],"information_content":100.0}
{"id":"MONDO:0007699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hashimoto thyroiditis","equivalent_identifiers":["MONDO:0007699","DOID:7188","OMIM:140300","EFO:0003779","UMLS:C0677607","UMLS:C3887534","MESH:D050031","MEDDRA:10008992","MEDDRA:10019166","MEDDRA:10019167","MEDDRA:10025276","NCIT:C27191","SNOMEDCT:21983002","medgen:151769","icd11.foundation:972507934","ICD10:E06.3","HP:0000872"],"information_content":84.8}
{"id":"MONDO:0007700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hawkinsinuria","equivalent_identifiers":["MONDO:0007700","DOID:0111362","OMIM:140350","orphanet:2118","UMLS:C2931042","MESH:C535845","SNOMEDCT:414380008","medgen:419319","icd11.foundation:786595759"],"information_content":100.0}
{"id":"MONDO:0007701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive familial heart block type II","equivalent_identifiers":["MONDO:0007701","DOID:0111075","OMIM:140400","UMLS:C1841658","MESH:C564202","SNOMEDCT:698251009","medgen:333884"],"information_content":100.0}
{"id":"MONDO:0007702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart-hand syndrome type 3","equivalent_identifiers":["MONDO:0007702","OMIM:140450","orphanet:1342","UMLS:C1841657","MESH:C535853","SNOMEDCT:721013001","medgen:333883","icd11.foundation:1878745129"],"information_content":100.0}
{"id":"MONDO:0007704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heberden node","equivalent_identifiers":["MONDO:0007704","OMIM:140600","UMLS:C0018862","UMLS:C3887526","MEDDRA:10019367","SNOMEDCT:371598009","medgen:854385","HP:0012313"],"information_content":100.0}
{"id":"MONDO:0007705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heinz body anemia","equivalent_identifiers":["MONDO:0007705","DOID:0111363","OMIM:140700","UMLS:C0700299","MESH:C563030","MEDDRA:10002058","MEDDRA:10002283","medgen:148583","HP:0005511"],"information_content":100.0}
{"id":"MONDO:0007706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cavernous hemangiomas of face-supraumbilical midline raphe syndrome","equivalent_identifiers":["MONDO:0007706","OMIM:140850","UMLS:C0472694","MESH:C538144","SNOMEDCT:234140000","medgen:99171"],"information_content":100.0}
{"id":"MONDO:0007707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemangiomas of small intestine","equivalent_identifiers":["MONDO:0007707","OMIM:140900","UMLS:C1841654","MESH:C564201","medgen:331098"],"information_content":100.0}
{"id":"MONDO:0007708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kasabach-Merritt syndrome","equivalent_identifiers":["MONDO:0007708","OMIM:141000","orphanet:2330","UMLS:C0221025","MESH:D059885","MEDDRA:10051768","MEDDRA:10051769","MEDDRA:10058423","NCIT:C3821","SNOMEDCT:86635005","medgen:65122","icd11.foundation:2059601885"],"information_content":100.0}
{"id":"MONDO:0007709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hematuria, benign familial, 1","equivalent_identifiers":["MONDO:0007709","OMIM:141200"],"information_content":100.0}
{"id":"MONDO:0007710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial hemiatrophy","equivalent_identifiers":["MONDO:0007710","DOID:1757","OMIM:141300","orphanet:1214","UMLS:C0015458","MESH:D005150","MEDDRA:10053874","MEDDRA:10053918","MEDDRA:10073006","NCIT:C116916","NCIT:C84703","SNOMEDCT:718224004","SNOMEDCT:95834000","medgen:8761","HP:0011331"],"information_content":100.0}
{"id":"MONDO:0007711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bencze syndrome","equivalent_identifiers":["MONDO:0007711","OMIM:141350","orphanet:1241","UMLS:C1841640","MESH:C564199","SNOMEDCT:733046006","medgen:330655"],"information_content":100.0}
{"id":"MONDO:0007712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculoauriculovertebral spectrum with radial defects","equivalent_identifiers":["MONDO:0007712","OMIM:141400","orphanet:2549","UMLS:C0220681","SNOMEDCT:726722009","medgen:67392"],"information_content":90.9}
{"id":"MONDO:0007713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"clonic hemifacial spasm","equivalent_identifiers":["MONDO:0007713","OMIM:141405","orphanet:221083","UMLS:C1841639","MESH:C564198","medgen:374760","icd11.foundation:353312397","icd11.foundation:64352031"],"information_content":100.0}
{"id":"MONDO:0007716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha thalassemia-intellectual disability syndrome type 1","equivalent_identifiers":["MONDO:0007716","DOID:0110029","OMIM:141750","orphanet:98791","UMLS:C0795917","MESH:C563050","MEDDRA:10083965","SNOMEDCT:277918006","SNOMEDCT:734349003","medgen:162892","ICD10:D56.0"],"information_content":100.0}
{"id":"MONDO:0007717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain","equivalent_identifiers":["MONDO:0007717","OMIM:142309","UMLS:C1840647","medgen:333610"],"information_content":100.0}
{"id":"MONDO:0007718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatic adenomas, familial","equivalent_identifiers":["MONDO:0007718","DOID:0111366","OMIM:142330","UMLS:C1840646","MESH:C564190","medgen:374515"],"information_content":100.0}
{"id":"MONDO:0007719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diaphragmatic hernia 1","inheritance":"Multifactorial inheritance","equivalent_identifiers":["MONDO:0007719","OMIM:142340","UMLS:C1840643","UMLS:C1840644","MESH:C564188","MESH:C564189","medgen:327154"],"information_content":100.0}
{"id":"MONDO:0007720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hernia, double inguinal","equivalent_identifiers":["MONDO:0007720","OMIM:142350","UMLS:C0860251","MESH:C563164","MEDDRA:10013610","medgen:163567"],"information_content":100.0}
{"id":"MONDO:0007721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hiatus hernia","equivalent_identifiers":["MONDO:0007721","DOID:12642","OMIM:142400","UMLS:C0267725","UMLS:C0376710","UMLS:C3489393","MESH:D006551","MEDDRA:10018802","MEDDRA:10019914","MEDDRA:10020024","MEDDRA:10020028","MEDDRA:10033774","MEDDRA:10033884","MEDDRA:10039210","MEDDRA:10041019","MEDDRA:10058165","MEDDRA:10058167","MEDDRA:10059188","MEDDRA:10072765","MEDDRA:10075920","MEDDRA:10075921","MEDDRA:10081550","NCIT:C98945","SNOMEDCT:236053002","SNOMEDCT:3662000","SNOMEDCT:84089009","medgen:483347","ICD10:K44","HP:0002036"],"information_content":95.4}
{"id":"MONDO:0007722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterochromia iridis","equivalent_identifiers":["MONDO:0007722","OMIM:142500","UMLS:C0423318","MESH:C538115","MEDDRA:10066799","SNOMEDCT:247033008","medgen:98395","HP:0001100"],"information_content":92.8}
{"id":"MONDO:0007723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease, susceptibility to, 1","equivalent_identifiers":["MONDO:0007723","OMIM:142623","UMLS:C3888125","UMLS:C3888239","medgen:854827"],"information_content":100.0}
{"id":"MONDO:0007725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary progressive mucinous histiocytosis","equivalent_identifiers":["MONDO:0007725","OMIM:142630","orphanet:158025","UMLS:C1840586","MESH:C564186","medgen:326771","icd11.foundation:284196883"],"information_content":100.0}
{"id":"MONDO:0007726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hip dysplasia, Beukes type","equivalent_identifiers":["MONDO:0007726","DOID:0111367","OMIM:142669","orphanet:2114","UMLS:C1840572","MESH:C564185","SNOMEDCT:721148005","medgen:333593"],"information_content":100.0}
{"id":"MONDO:0007727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TNF receptor 1-associated periodic fever syndrome","equivalent_identifiers":["MONDO:0007727","DOID:0090018","OMIM:142680","orphanet:32960","UMLS:C1275126","UMLS:C3889136","MESH:C536657","MEDDRA:10067774","MEDDRA:10067783","NCIT:C119051","SNOMEDCT:403833009","medgen:226899","icd11.foundation:1869883509","ICD10:E85.0"],"information_content":100.0}
{"id":"MONDO:0007728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acne inversa, familial, 1","equivalent_identifiers":["MONDO:0007728","OMIM:142690","UMLS:C4551962","medgen:1631104"],"information_content":100.0}
{"id":"MONDO:0007729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental dysplasia of the hip 1","equivalent_identifiers":["MONDO:0007729","DOID:0060931","OMIM:142700","UMLS:C1306065","medgen:266288"],"information_content":100.0}
{"id":"MONDO:0007732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Holt-Oram syndrome","equivalent_identifiers":["MONDO:0007732","DOID:0060468","OMIM:142900","orphanet:392","UMLS:C0265264","MESH:C535326","MEDDRA:10050469","NCIT:C125592","SNOMEDCT:19092004","medgen:120524","ICD10:Q87.2"],"information_content":95.4}
{"id":"MONDO:0007733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 3","equivalent_identifiers":["MONDO:0007733","DOID:0110875","OMIM:142945","UMLS:C1840529","MESH:C564181","medgen:327125"],"information_content":95.4}
{"id":"MONDO:0007734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 4","equivalent_identifiers":["MONDO:0007734","DOID:0110880","OMIM:142946","UMLS:C1840528","MESH:C564180","NCIT:C75475","medgen:374488"],"information_content":90.9}
{"id":"MONDO:0007735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital Horner syndrome","equivalent_identifiers":["MONDO:0007735","OMIM:143000","orphanet:91413","UMLS:C1840475","MESH:C564178","MEDDRA:10074554","SNOMEDCT:770626007","medgen:327111","HP:0006837"],"information_content":100.0}
{"id":"MONDO:0007737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"humeroradial synostosis","equivalent_identifiers":["MONDO:0007737","DOID:0060467","OMIM:143050","orphanet:3265","UMLS:C1863360","UMLS:C2930865","UMLS:C5975702","MESH:C535284","SNOMEDCT:205329008","medgen:418931","icd11.foundation:518723993","HP:0003041"],"information_content":89.4}
{"id":"MONDO:0007738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia with congenital joint dislocations","equivalent_identifiers":["MONDO:0007738","DOID:0050813","OMIM:143095","orphanet:263463","UMLS:C1837657","UMLS:C2931466","MESH:C535789","MESH:C537283","SNOMEDCT:702400006","SNOMEDCT:725417001","medgen:373381"],"information_content":100.0}
{"id":"MONDO:0007739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Huntington disease","equivalent_identifiers":["MONDO:0007739","DOID:12858","OMIM:143100","orphanet:399","UMLS:C0020179","MESH:D006816","MEDDRA:10020469","MEDDRA:10070668","NCIT:C82342","SNOMEDCT:58756001","medgen:5654","icd11.foundation:2132180242","ICD9:333.4","KEGG.DISEASE:05016"],"information_content":89.4}
{"id":"MONDO:0007740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wagner disease","equivalent_identifiers":["MONDO:0007740","OMIM:143200","orphanet:898","UMLS:C1840452","MESH:C536075","MEDDRA:10063383","SNOMEDCT:232064001","medgen:326741","icd11.foundation:780893571","HP:0030673"],"information_content":100.0}
{"id":"MONDO:0007744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholesterol-ester transfer protein deficiency","equivalent_identifiers":["MONDO:0007744","DOID:0111369","OMIM:143470","UMLS:C3149462","UMLS:C3149463","UMLS:C3875011","SNOMEDCT:15771000119109","medgen:840020"],"information_content":100.0}
{"id":"MONDO:0007745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gilbert Disease","equivalent_identifiers":["MONDO:0007745","DOID:2739","OMIM:143500","EFO:0005556","UMLS:C0017551","MESH:D005878","MEDDRA:10018267","NCIT:C84729","SNOMEDCT:27503000","medgen:4891","icd11.foundation:1947520963","ICD10:E80.4"],"information_content":100.0}
{"id":"MONDO:0007746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orthostatic hypotensive disorder, Streeten type","equivalent_identifiers":["MONDO:0007746","OMIM:143850","UMLS:C1840438","MESH:C564174","medgen:327101"],"information_content":100.0}
{"id":"MONDO:0007747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated hyperchlorhidrosis","equivalent_identifiers":["MONDO:0007747","DOID:0111371","OMIM:143860","orphanet:542657","UMLS:C1840437","SNOMEDCT:709413001","medgen:333560"],"information_content":100.0}
{"id":"MONDO:0007748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercalciuria, absorptive, 2","equivalent_identifiers":["MONDO:0007748","OMIM:143870","UMLS:C0342639","MESH:C562790","SNOMEDCT:237886009","medgen:137974"],"information_content":100.0}
{"id":"MONDO:0007750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercholesterolemia, familial, 1","equivalent_identifiers":["MONDO:0007750","OMIM:143890","UMLS:C0745103","UMLS:C3276941","MEDDRA:10017342","MEDDRA:10017343","MEDDRA:10017344","MEDDRA:10045261","MEDDRA:10045262","MEDDRA:10060595","MEDDRA:10060596","MEDDRA:10060597","MEDDRA:10064614","MEDDRA:10064707","NCIT:C123416","SNOMEDCT:397915002","SNOMEDCT:398036000","medgen:152875"],"information_content":100.0}
{"id":"MONDO:0007751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercholesterolemia, autosomal dominant, type B","equivalent_identifiers":["MONDO:0007751","OMIM:144010","UMLS:C1704417","UMLS:C3888316","MEDDRA:10017345","MEDDRA:10045264","MEDDRA:10054676","MEDDRA:10060598","NCIT:C176014","SNOMEDCT:238081000","medgen:309962"],"information_content":100.0}
{"id":"MONDO:0007752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperheparinemia","equivalent_identifiers":["MONDO:0007752","OMIM:144050","UMLS:C3203346","MESH:C562723","SNOMEDCT:79674009","medgen:469019"],"information_content":100.0}
{"id":"MONDO:0007753","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Frey syndrome","equivalent_identifiers":["MONDO:0007753","DOID:11599","OMIM:144100","orphanet:662240","EFO:1000940","UMLS:C0038994","MESH:D013547","MEDDRA:10059249","SNOMEDCT:238758008","SNOMEDCT:56046002","medgen:21041","HP:0025277"],"information_content":100.0}
{"id":"MONDO:0007754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperhidrosis palmaris ET plantaris","equivalent_identifiers":["MONDO:0007754","OMIM:144110","UMLS:C1274743","MESH:C563185","SNOMEDCT:403375001","medgen:224808","HP:0007410"],"information_content":100.0}
{"id":"MONDO:0007756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperkeratosis lenticularis perstans","equivalent_identifiers":["MONDO:0007756","OMIM:144150","orphanet:409","UMLS:C0263420","MESH:C538377","MEDDRA:10071311","MEDDRA:10071312","SNOMEDCT:28488007","medgen:120477","HP:0007570"],"information_content":100.0}
{"id":"MONDO:0007757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperkeratosis-hyperpigmentation syndrome","equivalent_identifiers":["MONDO:0007757","OMIM:144190","orphanet:1336","UMLS:C1840428","MESH:C564172","medgen:326735"],"information_content":100.0}
{"id":"MONDO:0007758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Keratoma","equivalent_identifiers":["MONDO:0007758","DOID:0070552","OMIM:144200","orphanet:2199","UMLS:C0086501","UMLS:C0376154","UMLS:C0406169","UMLS:C0678127","UMLS:C0870082","UMLS:C1840427","UMLS:C3489771","UMLS:C3489794","UMLS:C4048704","MESH:C564171","MESH:C567914","MESH:D002145","MEDDRA:10007034","MEDDRA:10007035","MEDDRA:10020648","MEDDRA:10020649","MEDDRA:10045205","MEDDRA:10057981","NCIT:C122927","NCIT:C35541","NCIT:C84693","SNOMEDCT:201040000","SNOMEDCT:26996000","SNOMEDCT:396228006","SNOMEDCT:399955009","HP:0000962"],"information_content":71.8}
{"id":"MONDO:0007759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlipidemia, familial combined, LPL related","equivalent_identifiers":["MONDO:0007759","DOID:13809","OMIM:144250","UMLS:C0020474","MESH:D006950","MEDDRA:10045263","MEDDRA:10054675","NCIT:C35637","SNOMEDCT:238040008","SNOMEDCT:299465007","medgen:6965","ICD10:E78.49","HP:0008158"],"information_content":100.0}
{"id":"MONDO:0007760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlipoproteinemia, type II, and deafness","equivalent_identifiers":["MONDO:0007760","OMIM:144300","UMLS:C1840425","MESH:C564170","medgen:326732"],"information_content":100.0}
{"id":"MONDO:0007762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlipoproteinemia type V","equivalent_identifiers":["MONDO:0007762","DOID:0111421","DOID:1171","OMIM:144650","orphanet:530849","UMLS:C0020481","UMLS:C3489395","MESH:D006954","MEDDRA:10017348","MEDDRA:10045270","MEDDRA:10054679","MEDDRA:10059997","MEDDRA:10060755","MEDDRA:10060756","MEDDRA:10064617","MEDDRA:10064710","NCIT:C35645","SNOMEDCT:34349009","medgen:5693"],"information_content":100.0}
{"id":"MONDO:0007763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonpapillary renal cell carcinoma","equivalent_identifiers":["MONDO:0007763","DOID:0050387","OMIM:144700","UMLS:C2750825"],"information_content":89.4}
{"id":"MONDO:0007764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Worth syndrome","equivalent_identifiers":["MONDO:0007764","DOID:0080037","OMIM:144750","orphanet:2790","UMLS:C0432273","MESH:C536748","SNOMEDCT:254131007","medgen:140932","icd11.foundation:1038854228"],"information_content":100.0}
{"id":"MONDO:0007765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperostosis cranialis interna","equivalent_identifiers":["MONDO:0007765","OMIM:144755","orphanet:443098","UMLS:C1840404","UMLS:C4280468","UMLS:C4280469","UMLS:C4280470","UMLS:C4280471","UMLS:C4280472","MESH:C564168","SNOMEDCT:1217210001","medgen:327093","HP:0005890"],"information_content":100.0}
{"id":"MONDO:0007766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Morgagni-Stewart-Morel syndrome","equivalent_identifiers":["MONDO:0007766","OMIM:144800","orphanet:77296","UMLS:C0020494","UMLS:C4280524","UMLS:C4280525","UMLS:C4280526","UMLS:C4280527","MESH:D006957","NCIT:C84772","SNOMEDCT:82054006","medgen:9367","HP:0004438"],"information_content":100.0}
{"id":"MONDO:0007769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brown eyelids","equivalent_identifiers":["MONDO:0007769","DOID:10122","OMIM:145100","EFO:1000711","UMLS:C0155211","UMLS:C0854438","UMLS:C4280440","MESH:C562400","MEDDRA:10005147","MEDDRA:10020714","SNOMEDCT:41115008","medgen:56358","ICD10:H02.71","ICD9:374.52","HP:0007406"],"information_content":100.0}
{"id":"MONDO:0007770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperpigmentation of Fuldauer and Kuijpers","equivalent_identifiers":["MONDO:0007770","OMIM:145200","UMLS:C1840393","MESH:C564164","medgen:327090"],"information_content":100.0}
{"id":"MONDO:0007771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperpigmentation with or without hypopigmentation, familial progressive","equivalent_identifiers":["MONDO:0007771","DOID:0111373","OMIM:145250","UMLS:C1840392","MESH:C564163","medgen:333550"],"information_content":95.4}
{"id":"MONDO:0007772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoaldosteronism type 2A","equivalent_identifiers":["MONDO:0007772","OMIM:145260","orphanet:88938","UMLS:C1840389","UMLS:C2713447","MESH:C564160","SNOMEDCT:703254001","medgen:327088","icd11.foundation:646091849"],"information_content":100.0}
{"id":"MONDO:0007774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperreflexia","equivalent_identifiers":["MONDO:0007774","OMIM:145290","UMLS:C0034933","UMLS:C0151889","MESH:D012021","MEDDRA:10000170","MEDDRA:10000171","MEDDRA:10015583","MEDDRA:10020745","MEDDRA:10021676","MEDDRA:10038254","MEDDRA:10038258","MEDDRA:10038260","NCIT:C43248","SNOMEDCT:46670006","SNOMEDCT:86854008","medgen:57738","icd11.foundation:514864448","HP:0001347"],"information_content":80.9}
{"id":"MONDO:0007776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypersensitivity pneumonitis, familial","equivalent_identifiers":["MONDO:0007776","OMIM:145300","UMLS:C1840386","MESH:C536846","medgen:326724"],"information_content":100.0}
{"id":"MONDO:0007777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotaurinemic retinal degeneration and cardiomyopathy","equivalent_identifiers":["MONDO:0007777","OMIM:145350","UMLS:C1840385","UMLS:C5542181","MESH:C564157","medgen:1779589"],"information_content":100.0}
{"id":"MONDO:0007782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperthermia, cutaneous, with headaches and nausea","equivalent_identifiers":["MONDO:0007782","OMIM:145590","UMLS:C1840373","MESH:C564156","medgen:374453"],"information_content":100.0}
{"id":"MONDO:0007783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant hyperthermia, susceptibility to, 1","equivalent_identifiers":["MONDO:0007783","DOID:0080990","OMIM:145600","EFO:0009071","UMLS:C2930980","MESH:C535694","medgen:443948"],"information_content":100.0}
{"id":"MONDO:0007784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"selective pituitary resistance to thyroid hormone","equivalent_identifiers":["MONDO:0007784","DOID:0111374","OMIM:145650","UMLS:C1840364","MESH:C564154","SNOMEDCT:1260241001","medgen:333543","icd11.foundation:482664523"],"information_content":100.0}
{"id":"MONDO:0007785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperthyroxinemia, dystransthyretinemic","equivalent_identifiers":["MONDO:0007785","DOID:0080219","OMIM:145680","UMLS:C2750824","MESH:C567719","medgen:442573"],"information_content":100.0}
{"id":"MONDO:0007787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ambras syndrome","equivalent_identifiers":["MONDO:0007787","DOID:0111060","OMIM:145701","orphanet:1023","UMLS:C1840362","MESH:C536605","medgen:333542","ICD10:Q84.2"],"information_content":100.0}
{"id":"MONDO:0007788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertriglyceridemia 1","equivalent_identifiers":["MONDO:0007788","DOID:1172","OMIM:144600","OMIM:145750","UMLS:C0020480","UMLS:C5444012","MESH:D006953","MEDDRA:10017347","MEDDRA:10037541","MEDDRA:10037542","MEDDRA:10045267","MEDDRA:10054678","MEDDRA:10059183","MEDDRA:10059191","MEDDRA:10059965","MEDDRA:10060753","MEDDRA:10060754","MEDDRA:10064616","MEDDRA:10064709","NCIT:C34711","SNOMEDCT:129589009","SNOMEDCT:238085009","SNOMEDCT:267433009","SNOMEDCT:34528009","medgen:1787149","ICD10:E78.1","ICD9:272.1"],"information_content":100.0}
{"id":"MONDO:0007789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophia musculorum vera","equivalent_identifiers":["MONDO:0007789","OMIM:145800","UMLS:C1840361","MESH:C564152","medgen:374451"],"information_content":100.0}
{"id":"MONDO:0007790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 3","equivalent_identifiers":["MONDO:0007790","DOID:0050540","OMIM:145900","orphanet:64748","UMLS:C0011195","NCIT:C133087","SNOMEDCT:111499002","medgen:3710"],"information_content":100.0}
{"id":"MONDO:0007791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypocalciuric hypercalcemia 1","equivalent_identifiers":["MONDO:0007791","DOID:0060700","OMIM:145980","orphanet:93372","UMLS:C0342637","UMLS:C1840348","MESH:C537145","MESH:C564151","MEDDRA:10085357","MEDDRA:10085358","SNOMEDCT:704166007","medgen:137973"],"information_content":100.0}
{"id":"MONDO:0007792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypocalciuric hypercalcemia 2","equivalent_identifiers":["MONDO:0007792","DOID:0060701","OMIM:145981","orphanet:101049","UMLS:C1840347","MESH:C537146","medgen:374447"],"information_content":100.0}
{"id":"MONDO:0007793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypochondroplasia","equivalent_identifiers":["MONDO:0007793","DOID:0080041","OMIM:146000","orphanet:429","UMLS:C0410529","MESH:C562937","MEDDRA:10020967","NCIT:C118697","SNOMEDCT:205468002","medgen:98376","icd11.foundation:1930265486","ICD10:Q77.4"],"information_content":100.0}
{"id":"MONDO:0007794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 7 with or without anosmia","equivalent_identifiers":["MONDO:0007794","DOID:0090078","OMIM:146110","UMLS:C0342384","MESH:C562785","SNOMEDCT:123953004","medgen:87440"],"information_content":100.0}
{"id":"MONDO:0007795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mullerian duct anomalies-limb anomalies syndrome","equivalent_identifiers":["MONDO:0007795","OMIM:146160","orphanet:2491","UMLS:C1840335","MESH:C537155","medgen:327078"],"information_content":100.0}
{"id":"MONDO:0007796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoparathyroidism, familial isolated 1","equivalent_identifiers":["MONDO:0007796","OMIM:146200","UMLS:C5241444","SNOMEDCT:237657009","medgen:1713884"],"information_content":92.8}
{"id":"MONDO:0007797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoparathyroidism-deafness-renal disease syndrome","equivalent_identifiers":["MONDO:0007797","DOID:0060878","OMIM:146255","orphanet:2237","UMLS:C1840333","MESH:C537907","MEDDRA:10075281","MEDDRA:10087425","NCIT:C130983","SNOMEDCT:724282009","medgen:374443"],"information_content":100.0}
{"id":"MONDO:0007799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemic bone disease","equivalent_identifiers":["MONDO:0007799","OMIM:146350","UMLS:C1840321","MESH:C564145","medgen:333534"],"information_content":100.0}
{"id":"MONDO:0007800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 18p deletion syndrome","equivalent_identifiers":["MONDO:0007800","DOID:0060406","OMIM:146390","orphanet:1598","orphanet:261974","UMLS:C0432442","MESH:C538309","NCIT:C84521","SNOMEDCT:270890001","medgen:96604","icd11.foundation:121037615"],"information_content":100.0}
{"id":"MONDO:0007802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypospadias 3, autosomal","equivalent_identifiers":["MONDO:0007802","OMIM:146450","UMLS:C2675154","MESH:C567191","medgen:382538"],"information_content":100.0}
{"id":"MONDO:0007803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple system atrophy","equivalent_identifiers":["MONDO:0007803","DOID:4752","orphanet:102","EFO:1001050","UMLS:C0037019","UMLS:C0393571","MESH:D012791","MESH:D019578","MEDDRA:10003836","MEDDRA:10036799","MEDDRA:10040623","MEDDRA:10064060","NCIT:C84909","SNOMEDCT:230297002","medgen:98276","icd11.foundation:1890931931"],"information_content":83.6}
{"id":"MONDO:0007804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pallister-Hall syndrome","equivalent_identifiers":["MONDO:0007804","DOID:9248","OMIM:146510","orphanet:672","UMLS:C0265220","MESH:D054975","MEDDRA:10089178","NCIT:C84987","SNOMEDCT:56677004","medgen:120514","icd11.foundation:1845613381"],"information_content":95.4}
{"id":"MONDO:0007805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 2","equivalent_identifiers":["MONDO:0007805","DOID:0110699","OMIM:146520","UMLS:C1840299","MESH:C564143","medgen:374435"],"information_content":100.0}
{"id":"MONDO:0007808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis hystrix of Curth-Macklin","equivalent_identifiers":["MONDO:0007808","OMIM:146590","orphanet:79503","UMLS:C1840296","MESH:C536088","SNOMEDCT:254170001","medgen:326700"],"information_content":100.0}
{"id":"MONDO:0007809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis histrix, Lambert type","equivalent_identifiers":["MONDO:0007809","OMIM:146600","UMLS:C0432311","MESH:C536087","SNOMEDCT:1255143006","SNOMEDCT:254174005","medgen:98487"],"information_content":100.0}
{"id":"MONDO:0007810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant ichthyosis vulgaris","equivalent_identifiers":["MONDO:0007810","DOID:1702","OMIM:146700","UMLS:C0432300","SNOMEDCT:254157005","SNOMEDCT:254158000","medgen:609440","ICD10:Q80.0"],"information_content":92.8}
{"id":"MONDO:0007811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis-cheek-eyebrow syndrome","equivalent_identifiers":["MONDO:0007811","OMIM:146720","UMLS:C1840283","MESH:C536084","SNOMEDCT:716097001","medgen:326697"],"information_content":100.0}
{"id":"MONDO:0007812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis, lamellar, autosomal dominant","equivalent_identifiers":["MONDO:0007812","OMIM:146750","UMLS:C0432304","MESH:C537263","SNOMEDCT:254164007","medgen:98486"],"information_content":100.0}
{"id":"MONDO:0007813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"superficial epidermolytic ichthyosis","equivalent_identifiers":["MONDO:0007813","DOID:0060877","OMIM:146800","orphanet:455","UMLS:C0432306","MESH:D053560","NCIT:C84777","SNOMEDCT:254169002","medgen:98153","icd11.foundation:842172475"],"information_content":100.0}
{"id":"MONDO:0007817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgE responsiveness, atopic","equivalent_identifiers":["MONDO:0007817","OMIM:147050","UMLS:C0020523","UMLS:C0236175","UMLS:C1840253","UMLS:C1840254","MESH:C564133","MESH:D006969","MEDDRA:10020762","MEDDRA:10020763","MEDDRA:10021257","MEDDRA:10021267","MEDDRA:10021413","MEDDRA:10021414","MEDDRA:10021480","MEDDRA:10021481","MEDDRA:10045240","NCIT:C3116","SNOMEDCT:422076005","medgen:327063","HP:0003212"],"information_content":89.4}
{"id":"MONDO:0007818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Job Syndrome","equivalent_identifiers":["MONDO:0007818","DOID:3261","OMIM:147060","orphanet:2314","UMLS:C1840265","UMLS:C1968689","UMLS:C2936739","UMLS:C3489795","MESH:C564135","MESH:C567925","MESH:D007589","MEDDRA:10023196","MEDDRA:10051040","MEDDRA:10051063","NCIT:C126342","SNOMEDCT:1351326006","SNOMEDCT:50926003","medgen:445391"],"information_content":100.0}
{"id":"MONDO:0007819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"solitary median maxillary central incisor syndrome","equivalent_identifiers":["MONDO:0007819","OMIM:147250","UMLS:C1840235","MESH:C537342","MEDDRA:10089769","SNOMEDCT:707609006","medgen:326686","icd11.foundation:1834868112","HP:0006315"],"information_content":100.0}
{"id":"MONDO:0007820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Double tooth","equivalent_identifiers":["MONDO:0007820","OMIM:147251","orphanet:2287","UMLS:C3494175","UMLS:C4551900","SNOMEDCT:707796002","medgen:488128","icd11.foundation:1109888650","HP:0011089"],"information_content":92.8}
{"id":"MONDO:0007824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"incisors, lower central, absence of","equivalent_identifiers":["MONDO:0007824","OMIM:147330","UMLS:C1840225","UMLS:C4025054","medgen:333512","HP:0006355"],"information_content":92.8}
{"id":"MONDO:0007825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"incisors, rotation of upper central","equivalent_identifiers":["MONDO:0007825","OMIM:147350","UMLS:C1840224","medgen:374416"],"information_content":100.0}
{"id":"MONDO:0007826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"incisors, shovel-shaped","inheritance":"Polygenic inheritance","equivalent_identifiers":["MONDO:0007826","OMIM:147400","UMLS:C1409763","SNOMEDCT:699418008","medgen:278058"],"information_content":100.0}
{"id":"MONDO:0007827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inclusion body myositis","equivalent_identifiers":["MONDO:0007827","DOID:3429","OMIM:147421","orphanet:611","EFO:0007323","UMLS:C0238190","MESH:D018979","MEDDRA:10066407","NCIT:C84786","SNOMEDCT:72315009","medgen:68659","ICD10:G72.41","ICD9:359.71"],"information_content":89.4}
{"id":"MONDO:0007828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"indifference to pain, congenital, autosomal dominant","equivalent_identifiers":["MONDO:0007828","DOID:0081075","OMIM:147430","UMLS:C1840219","UMLS:C4538468","MESH:C564128","medgen:1613569"],"information_content":100.0}
{"id":"MONDO:0007829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholestasis, intrahepatic, of pregnancy, 1","equivalent_identifiers":["MONDO:0007829","DOID:0070228","OMIM:147480","UMLS:C3549845","medgen:762759"],"information_content":100.0}
{"id":"MONDO:0007831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"insect Stings, hypersensitivity to","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007831","OMIM:147540","UMLS:C1840171","medgen:327045"],"information_content":100.0}
{"id":"MONDO:0007834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"islet cell adenomatosis","equivalent_identifiers":["MONDO:0007834","OMIM:147630","UMLS:C0027773","UMLS:C1578917","MESH:C563258","MESH:D046768","MEDDRA:10080024","NCIT:C4375","SNOMEDCT:274944000","medgen:293643","HP:0034346"],"information_content":80.2}
{"id":"MONDO:0007835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intussusception","equivalent_identifiers":["MONDO:0007835","DOID:8446","OMIM:147710","UMLS:C0021933","MESH:D007443","MEDDRA:10022863","MEDDRA:10022875","NCIT:C113484","SNOMEDCT:35327006","SNOMEDCT:49723003","medgen:43940","ICD10:K56.1","ICD9:560.0","HP:0002576"],"information_content":95.4}
{"id":"MONDO:0007836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IVIC syndrome","equivalent_identifiers":["MONDO:0007836","DOID:0111381","OMIM:147750","orphanet:2307","UMLS:C1327918","MESH:C535544","SNOMEDCT:722019000","medgen:233003"],"information_content":100.0}
{"id":"MONDO:0007837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Johnson neuroectodermal syndrome","equivalent_identifiers":["MONDO:0007837","OMIM:147770","orphanet:2316","UMLS:C0796002","MESH:C535882","SNOMEDCT:721584005","medgen:167092","icd11.foundation:1480597785"],"information_content":100.0}
{"id":"MONDO:0007838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jacobsen syndrome","equivalent_identifiers":["MONDO:0007838","DOID:0111723","OMIM:147791","orphanet:2308","UMLS:C0795841","MESH:D054868","MEDDRA:10089842","NCIT:C75457","SNOMEDCT:715438008","medgen:162878","icd11.foundation:27788176"],"information_content":100.0}
{"id":"MONDO:0007839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aase-Smith syndrome","equivalent_identifiers":["MONDO:0007839","OMIM:147800","orphanet:916","UMLS:C0220686","MESH:C535332","SNOMEDCT:718576001","medgen:66316"],"information_content":100.0}
{"id":"MONDO:0007840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"internal carotid artery, spontaneous dissection of","equivalent_identifiers":["MONDO:0007840","OMIM:147820","UMLS:C1840073","MESH:C564125","medgen:333477"],"information_content":100.0}
{"id":"MONDO:0007841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coxopodopatellar syndrome","equivalent_identifiers":["MONDO:0007841","DOID:0111382","OMIM:147891","orphanet:1509","UMLS:C1840061","UMLS:C1868581","MESH:C535540","MESH:C536307","MEDDRA:10086423","SNOMEDCT:720752007","medgen:333474","icd11.foundation:794154672"],"information_content":100.0}
{"id":"MONDO:0007842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"joint laxity, familial","equivalent_identifiers":["MONDO:0007842","OMIM:147900","orphanet:2295","UMLS:C0268349","MESH:C535884","SNOMEDCT:71322004","medgen:120629"],"information_content":100.0}
{"id":"MONDO:0007843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kabuki syndrome 1","equivalent_identifiers":["MONDO:0007843","OMIM:147920"],"information_content":100.0}
{"id":"MONDO:0007844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 2 with or without anosmia","equivalent_identifiers":["MONDO:0007844","DOID:0090083","OMIM:147950","UMLS:C1563720","medgen:289648"],"information_content":100.0}
{"id":"MONDO:0007846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"KBG syndrome","equivalent_identifiers":["MONDO:0007846","DOID:14780","OMIM:148050","orphanet:2332","UMLS:C0220687","MESH:C537015","MEDDRA:10084411","SNOMEDCT:711156009","medgen:66317","icd11.foundation:465550090"],"information_content":100.0}
{"id":"MONDO:0007847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keloid formation","equivalent_identifiers":["MONDO:0007847","OMIM:148100","UMLS:C3149494","medgen:460844"],"information_content":100.0}
{"id":"MONDO:0007848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant keratitis","equivalent_identifiers":["MONDO:0007848","DOID:0111383","OMIM:148190","orphanet:2334","UMLS:C1835698","MESH:C537022","SNOMEDCT:715339004","medgen:332039","icd11.foundation:682617640"],"information_content":100.0}
{"id":"MONDO:0007849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratitis fugax hereditaria","equivalent_identifiers":["MONDO:0007849","OMIM:148200","orphanet:647815","UMLS:C1835697","MESH:C563650","SNOMEDCT:1336030008","medgen:372107"],"information_content":100.0}
{"id":"MONDO:0007850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senter syndrome","equivalent_identifiers":["MONDO:0007850","DOID:0060871","OMIM:148210","UMLS:C0265336","medgen:120536"],"information_content":100.0}
{"id":"MONDO:0007851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconus 1","equivalent_identifiers":["MONDO:0007851","OMIM:148300","UMLS:C1835677","MESH:C563649","medgen:372103"],"information_content":100.0}
{"id":"MONDO:0007852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma-deafness syndrome","equivalent_identifiers":["MONDO:0007852","DOID:0111505","OMIM:148350","orphanet:2202","UMLS:C1835672","MESH:C536152","SNOMEDCT:722203001","medgen:332030"],"information_content":100.0}
{"id":"MONDO:0007853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome","equivalent_identifiers":["MONDO:0007853","OMIM:148360","orphanet:538574","UMLS:C1835671","MESH:C536153","SNOMEDCT:1222646006","medgen:322722"],"information_content":95.4}
{"id":"MONDO:0007854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratolytic winter erythema","equivalent_identifiers":["MONDO:0007854","OMIM:148370","orphanet:50943","UMLS:C0406756","MESH:C536155","SNOMEDCT:239064000","medgen:98359","icd11.foundation:1491245207"],"information_content":100.0}
{"id":"MONDO:0007856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma-esophageal carcinoma syndrome","equivalent_identifiers":["MONDO:0007856","DOID:0111506","OMIM:148500","orphanet:2198","UMLS:C0473572","UMLS:C1835664","MESH:C536164","SNOMEDCT:111030006","medgen:324338"],"information_content":100.0}
{"id":"MONDO:0007857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis palmaris et plantaris-clinodactyly syndrome","equivalent_identifiers":["MONDO:0007857","OMIM:148520","orphanet:86919","UMLS:C1835663","MESH:C563646","medgen:320656"],"information_content":100.0}
{"id":"MONDO:0007858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma, punctate type 1A","equivalent_identifiers":["MONDO:0007858","DOID:0080214","OMIM:148600"],"information_content":100.0}
{"id":"MONDO:0007859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma i, striate, focal, or diffuse","equivalent_identifiers":["MONDO:0007859","DOID:0081108","OMIM:148700","UMLS:C2931122","MESH:C536162","medgen:419717"],"information_content":100.0}
{"id":"MONDO:0007860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal palmoplantar and gingival keratoderma","equivalent_identifiers":["MONDO:0007860","DOID:0070553","OMIM:148730","orphanet:2200","UMLS:C1835650","MESH:C536157","SNOMEDCT:764963007","medgen:372097"],"information_content":100.0}
{"id":"MONDO:0007861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated cloverleaf skull syndrome","equivalent_identifiers":["MONDO:0007861","OMIM:148800","UMLS:C0432126","UMLS:C1860050","UMLS:C4280564","MESH:C536884","SNOMEDCT:254022009","medgen:98141","HP:0002676"],"information_content":100.0}
{"id":"MONDO:0007862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 3","equivalent_identifiers":["MONDO:0007862","DOID:0110949","OMIM:148820","orphanet:896","UMLS:C0079661","SNOMEDCT:237918004","medgen:86948","icd11.foundation:847608197"],"information_content":100.0}
{"id":"MONDO:0007863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kleine-Levin syndrome","equivalent_identifiers":["MONDO:0007863","DOID:0060165","OMIM:148840","orphanet:33543","EFO:1001354","UMLS:C0206085","MESH:D017593","MEDDRA:10053712","MEDDRA:10053742","NCIT:C84800","SNOMEDCT:111488004","medgen:61511","icd11.foundation:1180849398"],"information_content":100.0}
{"id":"MONDO:0007864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioosteohypertrophic syndrome","equivalent_identifiers":["MONDO:0007864","DOID:2926","OMIM:149000","orphanet:2346","orphanet:90308","UMLS:C0022739","UMLS:C5848351","MESH:D007715","MEDDRA:10051452","MEDDRA:10056915","NCIT:C84801","SNOMEDCT:721105004","SNOMEDCT:723991007","medgen:9646","icd11.foundation:1561120378"],"information_content":100.0}
{"id":"MONDO:0007865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"knuckle pads","equivalent_identifiers":["MONDO:0007865","OMIM:149100","UMLS:C0264000","MEDDRA:10070650","NCIT:C3928","SNOMEDCT:16687001","medgen:78103","icd11.foundation:1824875472","HP:0032541"],"information_content":100.0}
{"id":"MONDO:0007866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bart-Pumphrey syndrome","equivalent_identifiers":["MONDO:0007866","DOID:0050658","OMIM:149200","orphanet:2698","UMLS:C0266004","MESH:C537210","SNOMEDCT:1271009","medgen:82727"],"information_content":100.0}
{"id":"MONDO:0007867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Koilonychia","equivalent_identifiers":["MONDO:0007867","DOID:0080080","OMIM:149300","UMLS:C0221261","UMLS:C0266000","UMLS:C3276971","MESH:C537260","MEDDRA:10054999","SNOMEDCT:18749008","SNOMEDCT:66270006","medgen:75593","HP:0001598"],"information_content":100.0}
{"id":"MONDO:0007868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperekplexia 1","equivalent_identifiers":["MONDO:0007868","DOID:0060696","OMIM:149400","UMLS:C4551954","medgen:1647581"],"information_content":100.0}
{"id":"MONDO:0007869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kyrle disease","equivalent_identifiers":["MONDO:0007869","OMIM:149500","UMLS:C0263382","MESH:C538130","MEDDRA:10050909","MEDDRA:10050911","MEDDRA:10050912","MEDDRA:10050913","SNOMEDCT:34042008","medgen:75516"],"information_content":100.0}
{"id":"MONDO:0007870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"labia minora, incomplete adhesion of","equivalent_identifiers":["MONDO:0007870","OMIM:149600","UMLS:C1835613","medgen:372090"],"information_content":100.0}
{"id":"MONDO:0007871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial congenital nasolacrimal duct obstruction","equivalent_identifiers":["MONDO:0007871","OMIM:149700","orphanet:451612","UMLS:C0344509","UMLS:C1835612","UMLS:C1867060","MESH:C566703","MEDDRA:10023636","SNOMEDCT:204208005","SNOMEDCT:253217007","medgen:332018","HP:0001092"],"information_content":100.0}
{"id":"MONDO:0007872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LADD syndrome","equivalent_identifiers":["MONDO:0007872","DOID:0050331","DOID:0081370","OMIM.PS:149730","orphanet:2363","UMLS:C0265269","MESH:C538132","MEDDRA:10085252","MEDDRA:10085253","SNOMEDCT:23817003","medgen:78545"],"information_content":90.9}
{"id":"MONDO:0007873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lactic acidosis, chronic adult form","equivalent_identifiers":["MONDO:0007873","OMIM:150170","UMLS:C1835591","MESH:C563640","medgen:320642"],"information_content":100.0}
{"id":"MONDO:0007874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichorhinophalangeal syndrome type II","equivalent_identifiers":["MONDO:0007874","DOID:4998","OMIM:150230","orphanet:502","UMLS:C0023003","MESH:D015826","MEDDRA:10050638","NCIT:C75118","SNOMEDCT:41069008","medgen:6009","icd11.foundation:315453775"],"information_content":92.8}
{"id":"MONDO:0007875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Larsen syndrome","equivalent_identifiers":["MONDO:0007875","DOID:14764","OMIM:150250","orphanet:503","UMLS:C0175778","MESH:C580241","MEDDRA:10073856","SNOMEDCT:63387002","medgen:104500","icd11.foundation:607849551"],"information_content":100.0}
{"id":"MONDO:0007876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal abductor paralysis","equivalent_identifiers":["MONDO:0007876","OMIM:150260","orphanet:2808","UMLS:C0396059","MESH:C536354","SNOMEDCT:232442001","medgen:96004","icd11.foundation:965049946"],"information_content":100.0}
{"id":"MONDO:0007877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal adductor paralysis","equivalent_identifiers":["MONDO:0007877","OMIM:150270","UMLS:C0396060","MESH:C562861","SNOMEDCT:232443006","medgen:140759"],"information_content":100.0}
{"id":"MONDO:0007878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngomalacia","equivalent_identifiers":["MONDO:0007878","DOID:0080833","OMIM:150280","orphanet:2373","UMLS:C0264303","UMLS:C0345160","MESH:D055092","MEDDRA:10060786","NCIT:C98971","SNOMEDCT:253737007","SNOMEDCT:38086007","medgen:120500","icd11.foundation:64182721","ICD10:Q31.5","HP:0001601"],"information_content":100.0}
{"id":"MONDO:0007879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"larynx atresia","equivalent_identifiers":["MONDO:0007879","OMIM:150300","orphanet:1202","UMLS:C0265756","UMLS:C1835555","MESH:C563637","NCIT:C98972","SNOMEDCT:64981002","medgen:78572","HP:0008750"],"information_content":100.0}
{"id":"MONDO:0007880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Laryngeal web","equivalent_identifiers":["MONDO:0007880","OMIM:150360","orphanet:2374","UMLS:C0281890","UMLS:C1835494","UMLS:C1861439","UMLS:C2931586","UMLS:C5936711","MESH:C537676","MESH:C563636","MEDDRA:10023871","MEDDRA:10047873","NCIT:C98970","SNOMEDCT:297159008","SNOMEDCT:444921008","medgen:372058","icd11.foundation:1641764672","HP:0005950"],"information_content":100.0}
{"id":"MONDO:0007881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth agenesis, selective, 4","equivalent_identifiers":["MONDO:0007881","OMIM:150400","UMLS:C1835492","UMLS:C1835493","MESH:C563634","medgen:372057"],"information_content":100.0}
{"id":"MONDO:0007883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periodic fever, immunodeficiency, and thrombocytopenia syndrome","equivalent_identifiers":["MONDO:0007883","OMIM:150550","orphanet:652522","UMLS:C0272174","MESH:C562721","SNOMEDCT:71436005","medgen:78795"],"information_content":100.0}
{"id":"MONDO:0007885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perthes Disease","equivalent_identifiers":["MONDO:0007885","DOID:14415","OMIM:150600","orphanet:2380","UMLS:C0022441","UMLS:C0023234","UMLS:C1442965","MESH:D007873","MEDDRA:10007041","MEDDRA:10034735","MEDDRA:10081350","MEDDRA:10086281","NCIT:C34766","SNOMEDCT:111255008","SNOMEDCT:15739006","SNOMEDCT:240241003","medgen:730669","ICD10:M91.1","ICD10:M91.2","HP:0005743"],"information_content":95.4}
{"id":"MONDO:0007886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine fibroid","equivalent_identifiers":["MONDO:0007886","DOID:13223","OMIM:150699","EFO:0000731","UMLS:C0042133","UMLS:C2242776","MEDDRA:10024186","MEDDRA:10046783","MEDDRA:10046784","MEDDRA:10046787","MEDDRA:10046798","MEDDRA:10046801","MEDDRA:10081129","NCIT:C3434","SNOMEDCT:44598004","SNOMEDCT:95315005","medgen:21801","ICD10:D25","ICD9:218","HP:0000131"],"information_content":79.9}
{"id":"MONDO:0007887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leiomyoma of vulva and esophagus","equivalent_identifiers":["MONDO:0007887","OMIM:150700","UMLS:C1835488","MESH:C537006","medgen:320616"],"information_content":100.0}
{"id":"MONDO:0007890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lentiginosis, centrofacial neurodysraphic","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007890","OMIM:151000","UMLS:C1835484","MESH:C563630","medgen:372055"],"information_content":100.0}
{"id":"MONDO:0007891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial generalized lentiginosis","equivalent_identifiers":["MONDO:0007891","OMIM:151001","orphanet:231040","UMLS:C3492944","UMLS:C4707357","MESH:C573023","SNOMEDCT:765195000","medgen:486897"],"information_content":100.0}
{"id":"MONDO:0007892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lenz-Majewski hyperostotic dwarfism","equivalent_identifiers":["MONDO:0007892","DOID:0111507","OMIM:151050","orphanet:2658","UMLS:C0432269","MESH:C537115","SNOMEDCT:1393001","medgen:98483","icd11.foundation:1509425242"],"information_content":100.0}
{"id":"MONDO:0007893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome with multiple lentigines","equivalent_identifiers":["MONDO:0007893","DOID:14291","OMIM.PS:151100","orphanet:500","UMLS:C0175704","MESH:D044542","MEDDRA:10057210","MEDDRA:10062901","NCIT:C84820","SNOMEDCT:111306001","medgen:104494"],"information_content":90.9}
{"id":"MONDO:0007894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leri pleonosteosis","equivalent_identifiers":["MONDO:0007894","OMIM:151200","orphanet:2900","UMLS:C1835450","MESH:C537118","medgen:331978"],"information_content":100.0}
{"id":"MONDO:0007895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platyspondylic dysplasia, Torrance type","equivalent_identifiers":["MONDO:0007895","DOID:0111508","OMIM:151210","orphanet:85166","UMLS:C1835437","MESH:C563627","medgen:331974","icd11.foundation:263213426"],"information_content":100.0}
{"id":"MONDO:0007896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute monocytic leukemia","equivalent_identifiers":["MONDO:0007896","DOID:8864","OMIM:151380","orphanet:514","EFO:0000221","UMLS:C0023465","UMLS:C0457334","UMLS:C1318544","MESH:D007948","MEDDRA:10000870","MEDDRA:10000871","MEDDRA:10000873","MEDDRA:10024342","MEDDRA:10027890","MEDDRA:10027895","MEDDRA:10059439","MEDDRA:10060392","NCIT:C4861","NCIT:C7171","SNOMEDCT:22331004","SNOMEDCT:278170009","SNOMEDCT:413441006","medgen:7319","icd11.foundation:517546180","ICD9:206.0","HP:0004845"],"information_content":86.3}
{"id":"MONDO:0007898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukocyte nuclear appendages, hereditary prevalence of","equivalent_identifiers":["MONDO:0007898","OMIM:151500","UMLS:C1835405","MESH:C563626","medgen:320594"],"information_content":100.0}
{"id":"MONDO:0007900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonsyndromic congenital nail disorder 3","equivalent_identifiers":["MONDO:0007900","DOID:0080081","OMIM:151600","UMLS:C0263532","UMLS:C0544855","UMLS:C2931467","MESH:C537289","SNOMEDCT:74102009","medgen:107463"],"information_content":100.0}
{"id":"MONDO:0007901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"levator-medial rectus synkinesis","equivalent_identifiers":["MONDO:0007901","OMIM:151610","UMLS:C1835403","MESH:C563625","medgen:320592"],"information_content":100.0}
{"id":"MONDO:0007902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lichen planus, familial","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0007902","OMIM:151620","UMLS:C1835402","MESH:C563624","medgen:372036"],"information_content":100.0}
{"id":"MONDO:0007904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"median nodule of the upper lip","equivalent_identifiers":["MONDO:0007904","OMIM:151630","orphanet:2699","UMLS:C1835396","SNOMEDCT:722034006","medgen:372034"],"information_content":100.0}
{"id":"MONDO:0007905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lip, hamartomatous","equivalent_identifiers":["MONDO:0007905","OMIM:151640","UMLS:C1835395","MESH:C563621","medgen:331965"],"information_content":100.0}
{"id":"MONDO:0007906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial partial lipodystrophy, Dunnigan type","equivalent_identifiers":["MONDO:0007906","DOID:0070202","OMIM:151660","orphanet:2348","UMLS:C1720860","NCIT:C165527","SNOMEDCT:715439000","medgen:354526","icd11.foundation:2068585355"],"information_content":100.0}
{"id":"MONDO:0007907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoma of the conjunctiva","equivalent_identifiers":["MONDO:0007907","OMIM:151700","UMLS:C1835373","MESH:C563620","medgen:372030"],"information_content":100.0}
{"id":"MONDO:0007908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple symmetric lipomatosis","equivalent_identifiers":["MONDO:0007908","DOID:14116","OMIM:151800","orphanet:2398","EFO:1000737","UMLS:C0023804","UMLS:C0028253","MESH:D008069","MEDDRA:10084240","MEDDRA:10084242","NCIT:C4392","SNOMEDCT:238902007","SNOMEDCT:65245004","medgen:7349"],"information_content":100.0}
{"id":"MONDO:0007909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial multiple lipomatosis","equivalent_identifiers":["MONDO:0007909","DOID:0070518","OMIM:151900","orphanet:199276","UMLS:C1275273","UMLS:C3489413","MESH:D000071070","MEDDRA:10081235","SNOMEDCT:404063007","SNOMEDCT:766888002","medgen:698553"],"information_content":100.0}
{"id":"MONDO:0007912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lithium transport","equivalent_identifiers":["MONDO:0007912","OMIM:152420","UMLS:C1835356","medgen:331956"],"information_content":100.0}
{"id":"MONDO:0007914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lumbar stenosis, familial","equivalent_identifiers":["MONDO:0007914","OMIM:152550","UMLS:C1835320","MESH:C563613","medgen:372016"],"information_content":100.0}
{"id":"MONDO:0007915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"EXCESS LMW-DNA","equivalent_identifiers":["MONDO:0007915","DOID:9074","OMIM:152700","orphanet:536","UMLS:C0024141","UMLS:C1835309","MESH:D008180","MEDDRA:10013446","MEDDRA:10024065","MEDDRA:10024067","MEDDRA:10025133","MEDDRA:10025139","MEDDRA:10025142","MEDDRA:10040967","MEDDRA:10042800","MEDDRA:10042820","MEDDRA:10042944","MEDDRA:10042945","MEDDRA:10042947","NCIT:C3201","SNOMEDCT:55464009","medgen:6146","icd11.foundation:749596428","ICD10:M32.9","ICD9:710.0","KEGG.DISEASE:05322","HP:0002725"],"information_content":78.0}
{"id":"MONDO:0007916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary intestinal lymphangiectasia","equivalent_identifiers":["MONDO:0007916","OMIM:152800","orphanet:90362","UMLS:C2931241","MESH:C536567","SNOMEDCT:6124009","medgen:444009","icd11.foundation:52162548"],"information_content":100.0}
{"id":"MONDO:0007917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphedema-cerebral arteriovenous anomaly syndrome","equivalent_identifiers":["MONDO:0007917","OMIM:152900","orphanet:86914","UMLS:C1835272","MESH:C563612","medgen:322617"],"information_content":100.0}
{"id":"MONDO:0007918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability","equivalent_identifiers":["MONDO:0007918","DOID:0060349","OMIM:152950","orphanet:2526","UMLS:C1835265","MESH:C537711","medgen:320559"],"information_content":100.0}
{"id":"MONDO:0007919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Milroy Disease","equivalent_identifiers":["MONDO:0007919","DOID:0070210","DOID:0070212","OMIM:153100","orphanet:79452","UMLS:C1704423","MEDDRA:10051461","SNOMEDCT:399889006","medgen:309963","ICD10:Q82.0"],"information_content":100.0}
{"id":"MONDO:0007920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 5","equivalent_identifiers":["MONDO:0007920","DOID:0070213","OMIM:153200","orphanet:90186","UMLS:C0238261","UMLS:C1704424","UMLS:C4746631","MESH:C562467","MEDDRA:10025285","MEDDRA:10054461","SNOMEDCT:400040008","SNOMEDCT:77123007","medgen:1648463","ICD10:I89.0"],"information_content":100.0}
{"id":"MONDO:0007921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"yellow nail syndrome","equivalent_identifiers":["MONDO:0007921","DOID:0050468","OMIM:153300","orphanet:662","EFO:1001452","UMLS:C0221348","MESH:D056684","MEDDRA:10048244","NCIT:C85238","SNOMEDCT:400211001","medgen:113164","icd11.foundation:47812081","ICD10:L60.5"],"information_content":100.0}
{"id":"MONDO:0007922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphedema-distichiasis syndrome","equivalent_identifiers":["MONDO:0007922","DOID:0111509","OMIM:153400","orphanet:33001","UMLS:C0265345","UMLS:C2675066","MESH:C537710","MESH:C567188","NCIT:C128191","SNOMEDCT:8634009","medgen:75566"],"information_content":100.0}
{"id":"MONDO:0007923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocephaly, benign familial","equivalent_identifiers":["MONDO:0007923","OMIM:153470","UMLS:C0220690","MESH:C537717","medgen:113101"],"information_content":100.0}
{"id":"MONDO:0007925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"5q-syndrome","equivalent_identifiers":["MONDO:0007925","DOID:0090016","OMIM:153550","orphanet:86841","UMLS:C0740302","UMLS:C1292779","UMLS:C1835193","MESH:C535323","MEDDRA:10000031","MEDDRA:10068532","NCIT:C6867","SNOMEDCT:128837000","SNOMEDCT:277597005","medgen:196625","icd11.foundation:420472577","ICD10:D46.7"],"information_content":100.0}
{"id":"MONDO:0007927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital macroglossia","equivalent_identifiers":["MONDO:0007927","OMIM:153630","orphanet:2430","UMLS:C0009677","MESH:C531735","MEDDRA:10025391","MEDDRA:10063437","SNOMEDCT:270516002","medgen:3588","icd11.foundation:423141418"],"information_content":100.0}
{"id":"MONDO:0007930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bernard-Soulier syndrome, type A2, autosomal dominant","equivalent_identifiers":["MONDO:0007930","DOID:0111059","OMIM:153670","UMLS:C3277076","medgen:478706"],"information_content":100.0}
{"id":"MONDO:0007931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitelliform macular dystrophy 2","equivalent_identifiers":["MONDO:0007931","OMIM:153700","orphanet:1243","UMLS:C2675055","UMLS:C2745945","MESH:C567187","MEDDRA:10074149","SNOMEDCT:763387005","medgen:411553"],"information_content":100.0}
{"id":"MONDO:0007932","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 2","equivalent_identifiers":["MONDO:0007932","DOID:0110015","OMIM:153800","UMLS:C3495438","MESH:C562479","medgen:501183"],"information_content":100.0}
{"id":"MONDO:0007933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitelliform macular dystrophy 1","equivalent_identifiers":["MONDO:0007933","OMIM:153840","UMLS:C1835178","UMLS:C4551953","MESH:C537832","medgen:1636950"],"information_content":100.0}
{"id":"MONDO:0007934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign concentric annular macular dystrophy","equivalent_identifiers":["MONDO:0007934","DOID:0061106","OMIM:153870","orphanet:251287","UMLS:C0730330","UMLS:C1828210","UMLS:C4304667","UMLS:C5561925","MESH:C537833","MEDDRA:10008586","MEDDRA:10068902","SNOMEDCT:312958000","SNOMEDCT:424169002","SNOMEDCT:719520001","medgen:1794135","icd11.foundation:1839503243","HP:0011504"],"information_content":100.0}
{"id":"MONDO:0007935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystoid macular edema","equivalent_identifiers":["MONDO:0007935","DOID:4447","OMIM:153880","orphanet:75381","UMLS:C0024440","UMLS:C0730317","MEDDRA:10051240","MEDDRA:10058202","NCIT:C34794","SNOMEDCT:193387007","SNOMEDCT:312921000","medgen:7435","HP:0011505"],"information_content":100.0}
{"id":"MONDO:0007936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular dystrophy, fenestrated sheen type","equivalent_identifiers":["MONDO:0007936","OMIM:153890","UMLS:C1835173","MESH:C563607","medgen:331921"],"information_content":100.0}
{"id":"MONDO:0007937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypomagnesemia 2","equivalent_identifiers":["MONDO:0007937","DOID:0060885","OMIM:154020","orphanet:34528","UMLS:C1835171","UMLS:C5574944","MESH:C537152","SNOMEDCT:725393000","medgen:320542","HP:0005567"],"information_content":100.0}
{"id":"MONDO:0007938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 4","equivalent_identifiers":["MONDO:0007938","DOID:0111771","OMIM:154230","UMLS:C2752149","MESH:C567887","NCIT:C132270","medgen:416704"],"information_content":100.0}
{"id":"MONDO:0007939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant hyperthermia, susceptibility to, 2","equivalent_identifiers":["MONDO:0007939","OMIM:154275","UMLS:C2930981","MESH:C535695","medgen:419301"],"information_content":100.0}
{"id":"MONDO:0007940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant hyperthermia, susceptibility to, 3","equivalent_identifiers":["MONDO:0007940","OMIM:154276","UMLS:C2930982","MESH:C535696","medgen:418956"],"information_content":100.0}
{"id":"MONDO:0007941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malocclusion due to protuberant upper front teeth","equivalent_identifiers":["MONDO:0007941","OMIM:154300","UMLS:C1835159","medgen:331917"],"information_content":100.0}
{"id":"MONDO:0007943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nager syndrome","equivalent_identifiers":["MONDO:0007943","DOID:5768","OMIM:154400","orphanet:245","UMLS:C0265245","MESH:C538184","MEDDRA:10084410","SNOMEDCT:35520007","medgen:120519"],"information_content":100.0}
{"id":"MONDO:0007944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Treacher Collins syndrome 1","equivalent_identifiers":["MONDO:0007944","DOID:0080789","OMIM:154500"],"information_content":100.0}
{"id":"MONDO:0007945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mannose 6-phosphate receptor recognition defect, Lebanese type","equivalent_identifiers":["MONDO:0007945","OMIM:154570","UMLS:C1835134","MESH:C563601","medgen:331911"],"information_content":100.0}
{"id":"MONDO:0007946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"jaw-winking syndrome","equivalent_identifiers":["MONDO:0007946","DOID:560","OMIM:154600","orphanet:91412","UMLS:C0266521","MESH:C535908","MEDDRA:10000150","MEDDRA:10064583","SNOMEDCT:5127009","medgen:120582","icd11.foundation:590216180","ICD10:Q07.8","ICD9:374.43","HP:0025186"],"information_content":92.8}
{"id":"MONDO:0007947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marfan syndrome","equivalent_identifiers":["MONDO:0007947","DOID:14323","OMIM:154700","orphanet:284963","orphanet:558","UMLS:C0024796","UMLS:C4721845","MESH:D008382","MEDDRA:10026829","NCIT:C34807","SNOMEDCT:1003407000","SNOMEDCT:19346006","medgen:44287","icd11.foundation:236564145","ICD10:Q87.4","ICD9:759.82"],"information_content":95.4}
{"id":"MONDO:0007949","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marshall syndrome","equivalent_identifiers":["MONDO:0007949","DOID:0111510","OMIM:154780","orphanet:560","UMLS:C0265235","MESH:C536025","NCIT:C128115","SNOMEDCT:33410002","medgen:82694","icd11.foundation:1401051186"],"information_content":100.0}
{"id":"MONDO:0007950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mastocytosis","equivalent_identifiers":["MONDO:0007950","DOID:350","orphanet:98292","EFO:0009001","UMLS:C0024899","UMLS:C5200990","UMLS:C5779618","MESH:D008415","MEDDRA:10026891","NCIT:C84269","SNOMEDCT:125541005","SNOMEDCT:127581004","SNOMEDCT:397007003","medgen:9902","icd11.foundation:691643472","ICD10:D47.09","HP:0100495"],"information_content":78.3}
{"id":"MONDO:0007952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maxillofacial dysostosis","equivalent_identifiers":["MONDO:0007952","OMIM:155000","UMLS:C1835088","MESH:C563599","medgen:320517"],"information_content":100.0}
{"id":"MONDO:0007953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Binder syndrome","equivalent_identifiers":["MONDO:0007953","DOID:14683","OMIM:155050","orphanet:1248","UMLS:C0220692","MESH:C536036","MEDDRA:10075843","MEDDRA:10075844","SNOMEDCT:715985008","medgen:66318"],"information_content":100.0}
{"id":"MONDO:0007955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel diverticulum","equivalent_identifiers":["MONDO:0007955","DOID:9487","OMIM:155140","EFO:1001036","UMLS:C0025037","MESH:D008467","MEDDRA:10013561","MEDDRA:10027055","NCIT:C12264","SNOMEDCT:127962001","SNOMEDCT:37373007","medgen:9917","icd11.foundation:216192536","ICD10:Q43.0","ICD9:751.0","HP:0002245"],"information_content":75.2}
{"id":"MONDO:0007956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pai syndrome","equivalent_identifiers":["MONDO:0007956","OMIM:155145","orphanet:1993","UMLS:C1835087","MESH:C536135","SNOMEDCT:722201004","medgen:371972","icd11.foundation:1236130516"],"information_content":100.0}
{"id":"MONDO:0007957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mediosternal depigmentation line","equivalent_identifiers":["MONDO:0007957","OMIM:155200","UMLS:C1835085","medgen:371971"],"information_content":100.0}
{"id":"MONDO:0007959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"medulloblastoma","equivalent_identifiers":["MONDO:0007959","DOID:0050902","DOID:0060104","OMIM:155255","orphanet:616","EFO:0002939","UMLS:C0025149","UMLS:C1334410","UMLS:C5774316","MESH:D008527","MEDDRA:10027107","NCIT:C27294","NCIT:C3222","SNOMEDCT:1156923005","SNOMEDCT:443333004","SNOMEDCT:83217000","medgen:7517","icd11.foundation:290815825","HP:0002885"],"information_content":70.8}
{"id":"MONDO:0007961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephaly, autosomal dominant","equivalent_identifiers":["MONDO:0007961","OMIM:155350","UMLS:C3805727","medgen:812057"],"information_content":100.0}
{"id":"MONDO:0007962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalodactyly","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0007962","OMIM:155500","UMLS:C0265552","MESH:C562546","MEDDRA:10025386","NCIT:C48900","SNOMEDCT:48449000","medgen:78564","HP:0004099"],"information_content":92.8}
{"id":"MONDO:0007965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melanoma, malignant familial intraocular","equivalent_identifiers":["MONDO:0007965","OMIM:155700","UMLS:C1835043","MESH:C563596","medgen:322559"],"information_content":100.0}
{"id":"MONDO:0007969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Melkersson-Rosenthal syndrome","equivalent_identifiers":["MONDO:0007969","DOID:1761","OMIM:155900","orphanet:2483","EFO:1001039","UMLS:C0025235","MESH:D008556","MEDDRA:10027166","NCIT:C84886","SNOMEDCT:215617000","SNOMEDCT:37770007","medgen:6291","ICD10:G51.2"],"information_content":100.0}
{"id":"MONDO:0007970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melorheostosis","equivalent_identifiers":["MONDO:0007970","DOID:4253","OMIM:155950","orphanet:2485","UMLS:C0025239","UMLS:C3149631","MESH:D008557","MEDDRA:10050284","NCIT:C84887","SNOMEDCT:44697002","medgen:460981","icd11.foundation:312433776","HP:6000817"],"information_content":100.0}
{"id":"MONDO:0007971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"delayed membranous cranial ossification","equivalent_identifiers":["MONDO:0007971","OMIM:155980","orphanet:3034","UMLS:C1835030","MESH:C563592","SNOMEDCT:715524004","medgen:320502","icd11.foundation:766852360"],"information_content":100.0}
{"id":"MONDO:0007972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meniere disease","equivalent_identifiers":["MONDO:0007972","DOID:9849","OMIM:156000","EFO:0006862","UMLS:C0025281","UMLS:C1527320","MESH:D008575","MEDDRA:10027183","MEDDRA:10027184","MEDDRA:10027185","MEDDRA:10042823","NCIT:C185243","SNOMEDCT:13445001","medgen:7530","icd11.foundation:683932278","ICD9:386.0"],"information_content":90.9}
{"id":"MONDO:0007973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mental and growth retardation with amblyopia","equivalent_identifiers":["MONDO:0007973","OMIM:156190","UMLS:C1835028","MESH:C563591","medgen:331885"],"information_content":100.0}
{"id":"MONDO:0007974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 1","equivalent_identifiers":["MONDO:0007974","DOID:0070031","OMIM:156200","UMLS:C1969562","UMLS:C3277090","UMLS:C5677023","MESH:C566947","NCIT:C141424","medgen:409857"],"information_content":100.0}
{"id":"MONDO:0007975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meralgia paraesthetica, familial","equivalent_identifiers":["MONDO:0007975","OMIM:156220","UMLS:C1835026","MESH:C563590","medgen:322555"],"information_content":100.0}
{"id":"MONDO:0007977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesomelic dysplasia, Kantaputra type","equivalent_identifiers":["MONDO:0007977","OMIM:156232","orphanet:1836","UMLS:C1835009","MESH:C535547","SNOMEDCT:719397009","medgen:331880"],"information_content":95.4}
{"id":"MONDO:0007979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metachondromatosis","equivalent_identifiers":["MONDO:0007979","DOID:0111512","OMIM:156250","orphanet:2499","UMLS:C0410530","MESH:C562938","SNOMEDCT:205481009","medgen:98377","icd11.foundation:1342578560"],"information_content":100.0}
{"id":"MONDO:0007980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metachromasia of fibroblasts","equivalent_identifiers":["MONDO:0007980","OMIM:156300","UMLS:C1835008","medgen:322549","HP:0003610"],"information_content":100.0}
{"id":"MONDO:0007982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal chondrodysplasia, Jansen type","equivalent_identifiers":["MONDO:0007982","DOID:0080020","OMIM:156400","orphanet:33067","UMLS:C0265295","MESH:C537564","NCIT:C131868","SNOMEDCT:24629003","medgen:120529","icd11.foundation:1652660420"],"information_content":100.0}
{"id":"MONDO:0007983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schmid metaphyseal chondrodysplasia","equivalent_identifiers":["MONDO:0007983","DOID:0080021","OMIM:156500","orphanet:174","UMLS:C0265289","MESH:C537352","SNOMEDCT:29248006","medgen:78550"],"information_content":100.0}
{"id":"MONDO:0007984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome","equivalent_identifiers":["MONDO:0007984","DOID:0111513","OMIM:156510","orphanet:2504","UMLS:C3549874","medgen:762788"],"information_content":100.0}
{"id":"MONDO:0007985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metatarsus varus, type 1","equivalent_identifiers":["MONDO:0007985","OMIM:156520","UMLS:C1834968","MESH:C563585","medgen:331870"],"information_content":100.0}
{"id":"MONDO:0007986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metatropic dysplasia","equivalent_identifiers":["MONDO:0007986","DOID:0111514","OMIM:156530","orphanet:2635","UMLS:C0265281","MESH:C537356","MEDDRA:10082970","MEDDRA:10082982","NCIT:C175209","SNOMEDCT:22764001","medgen:82699"],"information_content":100.0}
{"id":"MONDO:0007987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kniest dysplasia","equivalent_identifiers":["MONDO:0007987","DOID:0080045","OMIM:156550","orphanet:485","UMLS:C0265279","MESH:C537207","MEDDRA:10081685","NCIT:C125594","SNOMEDCT:53974002","medgen:75559","icd11.foundation:2088691719"],"information_content":100.0}
{"id":"MONDO:0007988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant primary microcephaly","equivalent_identifiers":["MONDO:0007988","DOID:0061100","DOID:14725","OMIM:156580","orphanet:2514","UMLS:C0220693","MESH:C537323","medgen:66319","icd11.foundation:774437947"],"information_content":90.9}
{"id":"MONDO:0007989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital microcoria","equivalent_identifiers":["MONDO:0007989","OMIM:156600","orphanet:566","UMLS:C1303009","UMLS:C4225452","MESH:C537550","SNOMEDCT:400962005","medgen:227002","HP:0007728"],"information_content":100.0}
{"id":"MONDO:0007990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple benign circumferential skin creases on limbs","equivalent_identifiers":["MONDO:0007990","DOID:0112241","orphanet:2505","UMLS:C0473586","MESH:C537575","SNOMEDCT:239142006","medgen:96881"],"information_content":92.8}
{"id":"MONDO:0007991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-deafness-intellectual disability syndrome","equivalent_identifiers":["MONDO:0007991","OMIM:156620","orphanet:2533","UMLS:C0796062","MESH:C537326","SNOMEDCT:716112005","medgen:163208"],"information_content":100.0}
{"id":"MONDO:0007992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcornea-glaucoma-absent frontal sinuses syndrome","equivalent_identifiers":["MONDO:0007992","OMIM:156700","orphanet:2536","UMLS:C1834935","MESH:C537552","medgen:331860"],"information_content":100.0}
{"id":"MONDO:0007993","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microgastria-limb reduction defect syndrome","equivalent_identifiers":["MONDO:0007993","OMIM:156810","orphanet:2538","UMLS:C1834929","MESH:C537554","medgen:322532"],"information_content":100.0}
{"id":"MONDO:0007994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"micromelic bone dysplasia with cloverleaf skull","equivalent_identifiers":["MONDO:0007994","OMIM:156830","UMLS:C1834928","MESH:C536429","medgen:322531"],"information_content":100.0}
{"id":"MONDO:0007995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with cataract 1","equivalent_identifiers":["MONDO:0007995","OMIM:156850","UMLS:C1834919","MESH:C563582","medgen:320475"],"information_content":100.0}
{"id":"MONDO:0007996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with corectopia","equivalent_identifiers":["MONDO:0007996","OMIM:156900","UMLS:C1834918","MESH:C563581","medgen:320474"],"information_content":100.0}
{"id":"MONDO:0007999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 2","equivalent_identifiers":["MONDO:0007999","DOID:0110872","OMIM:157170","UMLS:C1834877","MESH:C563579","NCIT:C74995","medgen:322517"],"information_content":92.8}
{"id":"MONDO:0008000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine with or without aura, susceptibility to, 1","equivalent_identifiers":["MONDO:0008000","OMIM:157300","UMLS:C3887485","SNOMEDCT:37796009","medgen:854348"],"information_content":100.0}
{"id":"MONDO:0008001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"milia, multiple eruptive","equivalent_identifiers":["MONDO:0008001","OMIM:157400","UMLS:C0343079","MESH:C562823","SNOMEDCT:238749001","medgen:83356"],"information_content":100.0}
{"id":"MONDO:0008002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mirror movements 1","equivalent_identifiers":["MONDO:0008002","OMIM:157600","UMLS:C1834870","medgen:320461"],"information_content":100.0}
{"id":"MONDO:0008003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant progressive external ophthalmoplegia","equivalent_identifiers":["MONDO:0008003","orphanet:254892","UMLS:C5231255","MESH:C563575","SNOMEDCT:827115000","medgen:1686757"],"information_content":88.2}
{"id":"MONDO:0008004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial mitral valve prolapse","equivalent_identifiers":["MONDO:0008004","OMIM.PS:157700","orphanet:741","UMLS:C0340364","SNOMEDCT:233858000","medgen:573696"],"information_content":90.9}
{"id":"MONDO:0008005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiospondylocarpofacial syndrome","equivalent_identifiers":["MONDO:0008005","OMIM:157800","orphanet:3238","UMLS:C2931461","MESH:C537269","MESH:C563572","NCIT:C188216","SNOMEDCT:720612000","medgen:444060"],"information_content":100.0}
{"id":"MONDO:0008006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mobius syndrome","equivalent_identifiers":["MONDO:0008006","DOID:13501","OMIM:157900","orphanet:570","UMLS:C0221060","MESH:D020331","MEDDRA:10030069","MEDDRA:10088169","MEDDRA:10088170","NCIT:C84893","SNOMEDCT:766987006","SNOMEDCT:89444000","medgen:66357"],"information_content":95.4}
{"id":"MONDO:0008007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth ankylosis","equivalent_identifiers":["MONDO:0008007","DOID:12661","OMIM:157950","orphanet:1077","UMLS:C0155930","MESH:D020254","MEDDRA:10002574","MEDDRA:10044019","SNOMEDCT:14901003","medgen:57843","icd11.foundation:2066427602","ICD10:K03.5","ICD9:521.6","HP:0033791"],"information_content":100.0}
{"id":"MONDO:0008008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MOMO syndrome","equivalent_identifiers":["MONDO:0008008","OMIM:157980","orphanet:2563","UMLS:C1834759","MESH:C535812","SNOMEDCT:724137002","medgen:371897"],"information_content":100.0}
{"id":"MONDO:0008009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monilethrix","equivalent_identifiers":["MONDO:0008009","DOID:0050472","OMIM.PS:158000","orphanet:573","UMLS:C0546966","MESH:D056734","NCIT:C84894","SNOMEDCT:69488000","medgen:108185","icd11.foundation:415074833","ICD10:Q84.1","HP:0032470"],"information_content":90.9}
{"id":"MONDO:0008012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Monophalangy of great toe","equivalent_identifiers":["MONDO:0008012","OMIM:158100","UMLS:C1834753","MESH:C563570","medgen:320429"],"information_content":100.0}
{"id":"MONDO:0008013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 9p deletion syndrome","equivalent_identifiers":["MONDO:0008013","DOID:0060732","OMIM:158170","orphanet:261112","UMLS:C0795830","MESH:C538024","SNOMEDCT:62599000","SNOMEDCT:771072001","medgen:167073"],"information_content":92.8}
{"id":"MONDO:0008014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nondisjunction","equivalent_identifiers":["MONDO:0008014","OMIM:158250","UMLS:C1834741","medgen:320427"],"information_content":100.0}
{"id":"MONDO:0008015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"motion sickness","equivalent_identifiers":["MONDO:0008015","DOID:2951","OMIM:158280","EFO:0006928","UMLS:C0026603","MESH:D009041","MEDDRA:10027990","MEDDRA:10044548","MEDDRA:10044549","NCIT:C34824","SNOMEDCT:37031009","medgen:44503","icd11.foundation:1078108554","ICD10:T75.3","ICD9:994.6"],"information_content":90.9}
{"id":"MONDO:0008016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hecht syndrome","equivalent_identifiers":["MONDO:0008016","DOID:0111603","OMIM:158300","orphanet:3377","UMLS:C0265226","MESH:C535857","SNOMEDCT:8757006","medgen:78540"],"information_content":100.0}
{"id":"MONDO:0008017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary mucoepithelial dysplasia","equivalent_identifiers":["MONDO:0008017","OMIM:158310","orphanet:1839","UMLS:C1274795","MESH:C536476","SNOMEDCT:403442005","medgen:220887","icd11.foundation:1167609602"],"information_content":100.0}
{"id":"MONDO:0008019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mullerian aplasia and hyperandrogenism","equivalent_identifiers":["MONDO:0008019","DOID:0111526","OMIM:158330","orphanet:247768","UMLS:C2675014","MESH:C567186","MEDDRA:10088125","NCIT:C120376","medgen:390686"],"information_content":100.0}
{"id":"MONDO:0008020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple exostoses with spastic tetraparesis","equivalent_identifiers":["MONDO:0008020","OMIM:158345","UMLS:C1834724","MESH:C563566","medgen:371889"],"information_content":100.0}
{"id":"MONDO:0008021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cowden syndrome 1","equivalent_identifiers":["MONDO:0008021","OMIM:158350","UMLS:C1834711","UMLS:C1834712","UMLS:C1866376","UMLS:C1866398","MESH:C563564","MESH:C563565","MESH:C566636","NCIT:C179930","SNOMEDCT:716862002"],"information_content":100.0}
{"id":"MONDO:0008022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscle cramps, familial","equivalent_identifiers":["MONDO:0008022","OMIM:158400","UMLS:C1834708","MESH:C563563","medgen:371885"],"information_content":100.0}
{"id":"MONDO:0008023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome","equivalent_identifiers":["MONDO:0008023","OMIM:158500","orphanet:2579","UMLS:C0342281","MESH:C562774","SNOMEDCT:237611007","medgen:137966"],"information_content":100.0}
{"id":"MONDO:0008024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 7A","equivalent_identifiers":["MONDO:0008024","OMIM:158580","UMLS:C1834703","MESH:C563562","medgen:322474"],"information_content":100.0}
{"id":"MONDO:0008025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 2A","equivalent_identifiers":["MONDO:0008025","OMIM:158590","UMLS:C1834692","MESH:C563561","medgen:322471"],"information_content":100.0}
{"id":"MONDO:0008026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures","equivalent_identifiers":["MONDO:0008026","DOID:0070351","OMIM:158600","orphanet:209341","UMLS:C5780022","MESH:C563560","NCIT:C191765","medgen:1830501"],"information_content":100.0}
{"id":"MONDO:0008027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular atrophy, malignant neurogenic","equivalent_identifiers":["MONDO:0008027","OMIM:158650","UMLS:C1834689","MESH:C563559","medgen:322469"],"information_content":100.0}
{"id":"MONDO:0008028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, Barnes type","equivalent_identifiers":["MONDO:0008028","OMIM:158800","UMLS:C1834688","MESH:C563558","medgen:322468"],"information_content":100.0}
{"id":"MONDO:0008029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bethlem myopathy","equivalent_identifiers":["MONDO:0008029","DOID:0050663","OMIM.PS:158810","orphanet:610","UMLS:C1834674","MESH:C535436","NCIT:C126688","SNOMEDCT:718572004","medgen:331805","icd11.foundation:72734329"],"information_content":89.4}
{"id":"MONDO:0008030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facioscapulohumeral muscular dystrophy 1","equivalent_identifiers":["MONDO:0008030","DOID:0111192","OMIM:158900","UMLS:C1834673","UMLS:C5399970","MESH:C536391","NCIT:C172704","medgen:1727901"],"information_content":100.0}
{"id":"MONDO:0008031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facioscapulohumeral muscular dystrophy 2","equivalent_identifiers":["MONDO:0008031","DOID:0111193","OMIM:158901","UMLS:C1834671","UMLS:C3837602","MESH:C563557","NCIT:C172705","medgen:320405"],"information_content":100.0}
{"id":"MONDO:0008034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, pseudohypertrophic, with Internalized capillaries","equivalent_identifiers":["MONDO:0008034","OMIM:159050","UMLS:C1834652","MESH:C563554","medgen:320399"],"information_content":100.0}
{"id":"MONDO:0008036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myasthenia, limb-girdle, autoimmune","equivalent_identifiers":["MONDO:0008036","OMIM:159400","UMLS:C1834635","MESH:C563552","medgen:331795"],"information_content":100.0}
{"id":"MONDO:0008037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelinated optic nerve fibers","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008037","OMIM:159500","UMLS:C1834600","medgen:320388"],"information_content":100.0}
{"id":"MONDO:0008038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia-pancytopenia syndrome","equivalent_identifiers":["MONDO:0008038","OMIM:159550","orphanet:2585","UMLS:C1327919","MESH:C563233","NCIT:C176909","NCIT:C200422","SNOMEDCT:768556005","medgen:230896"],"information_content":92.8}
{"id":"MONDO:0008039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tropical spastic paraparesis","equivalent_identifiers":["MONDO:0008039","DOID:321","OMIM:159580","orphanet:289326","EFO:0007527","UMLS:C0030481","MESH:D015493","MEDDRA:10020427","MEDDRA:10020456","MEDDRA:10044696","MEDDRA:10060479","MEDDRA:10067606","NCIT:C179058","SNOMEDCT:714279000","medgen:18298","icd11.foundation:1043229589","ICD10:G04.1"],"information_content":100.0}
{"id":"MONDO:0008040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient myeloproliferative syndrome","equivalent_identifiers":["MONDO:0008040","DOID:0060888","OMIM:159595","orphanet:420611","UMLS:C1834582","MESH:C563551","NCIT:C82339","SNOMEDCT:450934005","SNOMEDCT:721307000","medgen:331782","ICD10:D47.7","HP:0005534"],"information_content":92.8}
{"id":"MONDO:0008041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonic epilepsy, Hartung type","equivalent_identifiers":["MONDO:0008041","OMIM:159600","UMLS:C1834581","MESH:C563550","medgen:371857"],"information_content":100.0}
{"id":"MONDO:0008043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonus-cerebellar ataxia-deafness syndrome","equivalent_identifiers":["MONDO:0008043","OMIM:159800","orphanet:2589","UMLS:C1834579","MESH:C563549","medgen:331780"],"information_content":100.0}
{"id":"MONDO:0008044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonic dystonia 11","equivalent_identifiers":["MONDO:0008044","DOID:0090034","OMIM:159900","UMLS:C1834570","MEDDRA:10084572","NCIT:C201596","medgen:331778"],"information_content":100.0}
{"id":"MONDO:0008045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy-progressive myoclonic epilepsy syndrome","equivalent_identifiers":["MONDO:0008045","DOID:0111527","OMIM:159950","orphanet:2590","UMLS:C1834569","MESH:C537563","SNOMEDCT:703524005","medgen:371854"],"information_content":100.0}
{"id":"MONDO:0008046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant myoglobinuria","equivalent_identifiers":["MONDO:0008046","OMIM:160010","orphanet:99846","UMLS:C1834567","MESH:C563546","SNOMEDCT:725903003","medgen:320384","icd11.foundation:149859272"],"information_content":100.0}
{"id":"MONDO:0008047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myokymia 1","equivalent_identifiers":["MONDO:0008047","DOID:0050989","OMIM:160120","orphanet:37612","UMLS:C1719788","UMLS:C2674766","MESH:C563278","MESH:C567174","SNOMEDCT:421182009","medgen:318554"],"information_content":100.0}
{"id":"MONDO:0008048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant centronuclear myopathy","equivalent_identifiers":["MONDO:0008048","DOID:0111217","DOID:0111223","OMIM:160150","orphanet:169189","UMLS:C1834558","UMLS:C4551952","NCIT:C126689","SNOMEDCT:716696006","medgen:1645741","ICD10:G71.228"],"information_content":100.0}
{"id":"MONDO:0008049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, distal, infantile-onset","equivalent_identifiers":["MONDO:0008049","DOID:0070196","OMIM:160300","UMLS:C4011725","medgen:860162"],"information_content":100.0}
{"id":"MONDO:0008050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MYH7-related skeletal myopathy","equivalent_identifiers":["MONDO:0008050","DOID:0070197","OMIM:160500","orphanet:59135","UMLS:C4552004","SNOMEDCT:764859001","medgen:1647391"],"information_content":100.0}
{"id":"MONDO:0008051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tubular aggregate myopathy","equivalent_identifiers":["MONDO:0008051","DOID:0080089","OMIM.PS:160565","orphanet:2593","UMLS:C0410207","SNOMEDCT:240087000","medgen:98050"],"information_content":92.8}
{"id":"MONDO:0008052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy with storage of glycoproteins and Glycosaminoglycans","equivalent_identifiers":["MONDO:0008052","OMIM:160570","UMLS:C1834532","MESH:C563542","medgen:371846"],"information_content":100.0}
{"id":"MONDO:0008053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myopia 2","equivalent_identifiers":["MONDO:0008053","OMIM:160700","UMLS:C1834531","MESH:C563541","medgen:331770"],"information_content":100.0}
{"id":"MONDO:0008054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile dermatomyositis","equivalent_identifiers":["MONDO:0008054","DOID:14203","orphanet:93672","EFO:0000557","UMLS:C0263666","MEDDRA:10008521","MEDDRA:10078425","NCIT:C27576","SNOMEDCT:1212005","medgen:120486","icd11.foundation:1428089375","ICD10:M33.0"],"information_content":95.4}
{"id":"MONDO:0008055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thomsen disease","equivalent_identifiers":["MONDO:0008055","DOID:0081336","OMIM:160800","UMLS:C0270959","UMLS:C2936781","MEDDRA:10043461","SNOMEDCT:57938005","SNOMEDCT:8960007","medgen:422446"],"information_content":100.0}
{"id":"MONDO:0008056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myotonic dystrophy type 1","equivalent_identifiers":["MONDO:0008056","DOID:11722","OMIM:160900","orphanet:273","UMLS:C3250443","MEDDRA:10090453","NCIT:C84679","SNOMEDCT:77956009","medgen:886881","icd11.foundation:557405480","ICD10:G71.11","ICD9:359.21"],"information_content":95.4}
{"id":"MONDO:0008057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carney complex, type 1","equivalent_identifiers":["MONDO:0008057","OMIM:160980","UMLS:C2607929","medgen:388559"],"information_content":100.0}
{"id":"MONDO:0008059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Naegeli-Franceschetti-Jadassohn syndrome","equivalent_identifiers":["MONDO:0008059","DOID:0111528","OMIM:161000","orphanet:69087","UMLS:C0343111","MESH:C538331","SNOMEDCT:239084001","medgen:91010","icd11.foundation:352035640"],"information_content":100.0}
{"id":"MONDO:0008060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Growth of nails","equivalent_identifiers":["MONDO:0008060","DOID:0080079","OMIM:161050","orphanet:79153","UMLS:C0406443","UMLS:C0423801","MESH:C562907","SNOMEDCT:238719003","SNOMEDCT:247481005","medgen:96056"],"information_content":100.0}
{"id":"MONDO:0008061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nail-patella syndrome","equivalent_identifiers":["MONDO:0008061","DOID:9467","OMIM:161200","orphanet:2614","UMLS:C0027341","MESH:D009261","MEDDRA:10060903","MEDDRA:10063431","NCIT:C75120","SNOMEDCT:22199006","medgen:10257","icd11.foundation:1121867410"],"information_content":100.0}
{"id":"MONDO:0008062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"narcolepsy 1","equivalent_identifiers":["MONDO:0008062","OMIM:161400","UMLS:C0007384","UMLS:C1834372","MESH:C563534","MESH:D002385","MEDDRA:10007737","NCIT:C84618","SNOMEDCT:46263000","medgen:371809","HP:0002524"],"information_content":89.4}
{"id":"MONDO:0008063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasal alar collapse, bilateral","equivalent_identifiers":["MONDO:0008063","OMIM:161470","UMLS:C1834371","MESH:C563533","medgen:331728"],"information_content":100.0}
{"id":"MONDO:0008064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasal bones, absence of","equivalent_identifiers":["MONDO:0008064","OMIM:161480","UMLS:C0339850","UMLS:C0339851","UMLS:C4023635","MESH:C562753","SNOMEDCT:1003577003","SNOMEDCT:1145463001","SNOMEDCT:91900007","medgen:90946","HP:0010941"],"information_content":100.0}
{"id":"MONDO:0008065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasal groove, familial transverse","equivalent_identifiers":["MONDO:0008065","OMIM:161500","UMLS:C1834370","medgen:322400"],"information_content":100.0}
{"id":"MONDO:0008066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasal hyperpigmentation, familial transverse","equivalent_identifiers":["MONDO:0008066","OMIM:161530","UMLS:C1834369","medgen:331727"],"information_content":100.0}
{"id":"MONDO:0008069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"necrotizing encephalomyelopathy, subacute, of Leigh, adult","equivalent_identifiers":["MONDO:0008069","OMIM:161700","UMLS:C1834340","MESH:C563530","medgen:331718"],"information_content":100.0}
{"id":"MONDO:0008070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy 2a, typical, autosomal dominant","equivalent_identifiers":["MONDO:0008070","DOID:0110927","OMIM:161800","orphanet:98904","UMLS:C3711377","UMLS:C3711389","MESH:C579880","MESH:C580202","NCIT:C129870","SNOMEDCT:702349003","medgen:777997"],"information_content":100.0}
{"id":"MONDO:0008071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant progressive nephropathy with hypertension","equivalent_identifiers":["MONDO:0008071","OMIM:161900","orphanet:88659","UMLS:C0403443","UMLS:C3839782","MESH:C562889","SNOMEDCT:236419006","SNOMEDCT:703310005","medgen:98012","icd11.foundation:1997246041"],"information_content":100.0}
{"id":"MONDO:0008072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgA nephropathy, susceptibility to, 1","equivalent_identifiers":["MONDO:0008072","OMIM:161950","UMLS:C3160719","medgen:463619"],"information_content":100.0}
{"id":"MONDO:0008073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial juvenile hyperuricemic nephropathy type 1","equivalent_identifiers":["MONDO:0008073","DOID:0061122","OMIM:162000","orphanet:88950","EFO:0008618","UMLS:C1835934","UMLS:C4054550","UMLS:C4551496","MESH:C563693","NCIT:C123172","SNOMEDCT:445503007","medgen:1645893"],"information_content":100.0}
{"id":"MONDO:0008076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic neuralgia","equivalent_identifiers":["MONDO:0008076","DOID:10383","OMIM:162100","UMLS:C1834304","SNOMEDCT:26609002","medgen:320318","ICD10:G54.5","ICD9:353.5"],"information_content":100.0}
{"id":"MONDO:0008083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ceroid lipofuscinosis, neuronal, 4 (Kufs type)","equivalent_identifiers":["MONDO:0008083","DOID:0110720","OMIM:162350","orphanet:228343","UMLS:C1834207","UMLS:C4284284","NCIT:C128116","medgen:320287","ICD10:E75.4"],"information_content":100.0}
{"id":"MONDO:0008084","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, congenital, with arthrogryposis multiplex","equivalent_identifiers":["MONDO:0008084","OMIM:162370","UMLS:C1834206","MESH:C535714","medgen:320286"],"information_content":100.0}
{"id":"MONDO:0008086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary sensory and autonomic, type 1A","equivalent_identifiers":["MONDO:0008086","DOID:0070152","OMIM:162400","UMLS:C5235211","SNOMEDCT:860813007","medgen:1716450"],"information_content":100.0}
{"id":"MONDO:0008087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary neuropathy with liability to pressure palsies","equivalent_identifiers":["MONDO:0008087","DOID:0060843","OMIM:162500","orphanet:640","UMLS:C0393814","MESH:C536965","MEDDRA:10069382","MEDDRA:10069820","SNOMEDCT:230558006","medgen:98291","icd11.foundation:2126843932"],"information_content":100.0}
{"id":"MONDO:0008089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutropenia, chronic familial","equivalent_identifiers":["MONDO:0008089","OMIM:162700","UMLS:C2931027","UMLS:C3665676","MESH:C535815","SNOMEDCT:234576008","medgen:777137"],"information_content":100.0}
{"id":"MONDO:0008090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cyclic hematopoiesis","equivalent_identifiers":["MONDO:0008090","DOID:5339","OMIM:162800","orphanet:2686","UMLS:C0221023","MESH:C536227","MEDDRA:10053176","NCIT:C3820","SNOMEDCT:191347008","medgen:65121","ICD10:D70.4","ICD9:288.02","HP:0040289"],"information_content":95.4}
{"id":"MONDO:0008092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary neutrophilia","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008092","DOID:0090120","OMIM:162830","orphanet:279943","UMLS:C0543669","MESH:C563010","SNOMEDCT:129639005","medgen:154252"],"information_content":100.0}
{"id":"MONDO:0008093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermal nevus","equivalent_identifiers":["MONDO:0008093","DOID:0111162","OMIM:162900","EFO:0000625","UMLS:C0334082","UMLS:C4011754","MESH:C580062","MEDDRA:10014985","MEDDRA:10062792","NCIT:C4088","SNOMEDCT:239107007","SNOMEDCT:25201003","medgen:83106","HP:0010816"],"information_content":89.4}
{"id":"MONDO:0008094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Port-Wine Stain","equivalent_identifiers":["MONDO:0008094","DOID:0111529","OMIM:163000","orphanet:624","UMLS:C0235752","UMLS:C2931029","MESH:C535816","MESH:D019339","MEDDRA:10036196","MEDDRA:10036197","MEDDRA:10062800","MEDDRA:10067193","MEDDRA:10067195","MEDDRA:10067196","MEDDRA:10083301","MEDDRA:10083544","NCIT:C3840","SNOMEDCT:416377005","SNOMEDCT:763714006","medgen:419699","HP:0001052"],"information_content":90.9}
{"id":"MONDO:0008095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nevus anemicus","equivalent_identifiers":["MONDO:0008095","OMIM:163050","UMLS:C0265982","MEDDRA:10069365","MEDDRA:10069367","NCIT:C3943","SNOMEDCT:40929003","medgen:82725","HP:0025105"],"information_content":100.0}
{"id":"MONDO:0008096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nevus flammeus of nape of neck","equivalent_identifiers":["MONDO:0008096","OMIM:163100","UMLS:C2697447","MESH:C567524","medgen:437278"],"information_content":100.0}
{"id":"MONDO:0008097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nevus sebaceous","equivalent_identifiers":["MONDO:0008097","DOID:0111530","OMIM:163200","orphanet:2612","EFO:1001841","UMLS:C3854181","UMLS:C4552097","MESH:D054000","MEDDRA:10029386","MEDDRA:10029387","MEDDRA:10039785","MEDDRA:10062806","MEDDRA:10073898","NCIT:C4678","SNOMEDCT: 274897005","SNOMEDCT:52298009","SNOMEDCT:707136009","medgen:1646345","HP:0010815"],"information_content":95.4}
{"id":"MONDO:0008098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesomelic dwarfism, Nievergelt type","equivalent_identifiers":["MONDO:0008098","OMIM:163400","orphanet:2633","UMLS:C0432231","MESH:C536120","SNOMEDCT:33979003","medgen:98478","icd11.foundation:2034257092"],"information_content":100.0}
{"id":"MONDO:0008099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness autosomal dominant 2","equivalent_identifiers":["MONDO:0008099","DOID:0110863","OMIM:163500","UMLS:C1876182","MESH:C566869","medgen:361814"],"information_content":100.0}
{"id":"MONDO:0008100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nipples inverted","equivalent_identifiers":["MONDO:0008100","OMIM:163600","UMLS:C0269269","SNOMEDCT:82231009","medgen:82844","HP:0003186"],"information_content":100.0}
{"id":"MONDO:0008101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial supernumerary nipples","equivalent_identifiers":["MONDO:0008101","OMIM:163700","orphanet:2456","UMLS:C0266011","MESH:C562557","MEDDRA:10029422","MEDDRA:10042571","SNOMEDCT:50956007","medgen:120564","HP:0002558"],"information_content":95.4}
{"id":"MONDO:0008102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sick sinus syndrome 2, autosomal dominant","equivalent_identifiers":["MONDO:0008102","OMIM:163800","UMLS:C1834144","MESH:C563513","medgen:320273"],"information_content":100.0}
{"id":"MONDO:0008103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"noduli Cutanei, multiple, with urinary tract abnormalities","equivalent_identifiers":["MONDO:0008103","OMIM:163850","UMLS:C1834143","MESH:C563512","medgen:371746"],"information_content":100.0}
{"id":"MONDO:0008104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 1","equivalent_identifiers":["MONDO:0008104","DOID:0060578","OMIM:163950","UMLS:C0041409","UMLS:C1527404","UMLS:C4551602","NCIT:C75459","medgen:1638960"],"information_content":100.0}
{"id":"MONDO:0008105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bulbous nose","equivalent_identifiers":["MONDO:0008105","OMIM:164000","UMLS:C0240543","UMLS:C1834118","UMLS:C1855751","MESH:C538354","medgen:331668","HP:0000414"],"information_content":100.0}
{"id":"MONDO:0008106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus 2, congenital, autosomal dominant","equivalent_identifiers":["MONDO:0008106","DOID:0111792","OMIM:164100","UMLS:C1834079","MESH:C537854","medgen:331657"],"information_content":100.0}
{"id":"MONDO:0008107","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus, hereditary vertical","equivalent_identifiers":["MONDO:0008107","OMIM:164150","UMLS:C1834078","MESH:C537857","medgen:322336"],"information_content":100.0}
{"id":"MONDO:0008108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocerebrocutaneous syndrome","equivalent_identifiers":["MONDO:0008108","OMIM:164180","orphanet:1647","UMLS:C0796092","MESH:C538088","MEDDRA:10088432","SNOMEDCT:403554008","medgen:163214"],"information_content":100.0}
{"id":"MONDO:0008109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular cicatricial pemphigoid","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008109","OMIM:164185","orphanet:99922","EFO:0008610","UMLS:C1282359","NCIT:C84939","SNOMEDCT:314757003","medgen:266181","icd11.foundation:953963439"],"information_content":100.0}
{"id":"MONDO:0008111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculodentodigital dysplasia","equivalent_identifiers":["MONDO:0008111","DOID:0060291","OMIM:164200","orphanet:2710","UMLS:C0812437","MESH:C563160","MEDDRA:10063691","SNOMEDCT:31291009","SNOMEDCT:38215007","medgen:167236"],"information_content":95.4}
{"id":"MONDO:0008113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schilbach-Rott syndrome","equivalent_identifiers":["MONDO:0008113","OMIM:164220","orphanet:2353","UMLS:C1834038","MESH:C563509","SNOMEDCT:721902002","medgen:371716"],"information_content":100.0}
{"id":"MONDO:0008114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Compulsion","equivalent_identifiers":["MONDO:0008114","DOID:10933","OMIM:164230","EFO:0004242","UMLS:C0028768","UMLS:C0600104","MESH:D003192","MESH:D009771","MEDDRA:10010219","MEDDRA:10029898","MEDDRA:10029900","MEDDRA:10029902","MEDDRA:10037961","NCIT:C88411","NCIT:C94241","SNOMEDCT:12479006","SNOMEDCT:191736004","medgen:14445","icd11.foundation:1582741816","ICD10:F42","ICD9:300.3","HP:0000722"],"information_content":81.7}
{"id":"MONDO:0008115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Feingold syndrome type 1","equivalent_identifiers":["MONDO:0008115","OMIM:164280","orphanet:391641","UMLS:C4551774","MEDDRA:10086639","SNOMEDCT:702431004","medgen:1637716"],"information_content":100.0}
{"id":"MONDO:0008116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculopharyngeal muscular dystrophy","equivalent_identifiers":["MONDO:0008116","DOID:11719","OMIM.PS:164300","orphanet:270","UMLS:C0270952","MESH:D039141","MEDDRA:10052181","SNOMEDCT:77097004","medgen:75730","icd11.foundation:1354386293","ICD10:G71.09"],"information_content":92.8}
{"id":"MONDO:0008118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontomatosis-aortae esophagus stenosis syndrome","equivalent_identifiers":["MONDO:0008118","OMIM:164330","orphanet:2724","UMLS:C1834013","MESH:C537740","SNOMEDCT:716180009","medgen:320249"],"information_content":100.0}
{"id":"MONDO:0008119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 1","equivalent_identifiers":["MONDO:0008119","DOID:0050954","OMIM:164400","orphanet:98755","UMLS:C0752120","NCIT:C129982","SNOMEDCT:715748006","medgen:155703","icd11.foundation:2071487961"],"information_content":100.0}
{"id":"MONDO:0008123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"omodysplasia 2","equivalent_identifiers":["MONDO:0008123","DOID:0080845","OMIM:164745","orphanet:93328","UMLS:C2750355","MESH:C567664","SNOMEDCT:725165009","medgen:413823","icd11.foundation:1237796148"],"information_content":100.0}
{"id":"MONDO:0008124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"omphalocele, autosomal","equivalent_identifiers":["MONDO:0008124","OMIM:164750","UMLS:C3277235","medgen:478865"],"information_content":100.0}
{"id":"MONDO:0008125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonsyndromic congenital nail disorder 5","equivalent_identifiers":["MONDO:0008125","DOID:0080083","OMIM:164800","UMLS:C1833909","MESH:C563503","SNOMEDCT:1254945005","medgen:318994"],"information_content":100.0}
{"id":"MONDO:0008127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmomandibulomelic dysplasia","equivalent_identifiers":["MONDO:0008127","OMIM:164900","orphanet:2741","UMLS:C1833872","MESH:C563501","SNOMEDCT:715484003","medgen:331604","icd11.foundation:869046719"],"information_content":100.0}
{"id":"MONDO:0008128","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmoplegia, familial static","equivalent_identifiers":["MONDO:0008128","OMIM:165000","UMLS:C1833839","MESH:C563500","medgen:371666"],"information_content":100.0}
{"id":"MONDO:0008129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmoplegia, familial total, with iris transillumination","equivalent_identifiers":["MONDO:0008129","OMIM:165098","UMLS:C1833836","MESH:C563499","medgen:371665"],"information_content":100.0}
{"id":"MONDO:0008130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmoplegia-intellectual disability-lingua scrotalis syndrome","equivalent_identifiers":["MONDO:0008130","OMIM:165150","orphanet:2743","UMLS:C1833835","MESH:C563498","medgen:318972"],"information_content":100.0}
{"id":"MONDO:0008131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant","equivalent_identifiers":["MONDO:0008131","OMIM:165199","UMLS:C1833831","MESH:C563497","medgen:331597"],"information_content":100.0}
{"id":"MONDO:0008133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 3","equivalent_identifiers":["MONDO:0008133","DOID:0111433","OMIM:165300","orphanet:67036","UMLS:C1833809","MESH:C537128","SNOMEDCT:719517009","medgen:371657"],"information_content":100.0}
{"id":"MONDO:0008134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 1","equivalent_identifiers":["MONDO:0008134","DOID:0111441","OMIM:165500","orphanet:98673","UMLS:C0338508","NCIT:C169000","SNOMEDCT:717336005","medgen:137902"],"information_content":100.0}
{"id":"MONDO:0008135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 13 with retinal and foveal abnormalities","equivalent_identifiers":["MONDO:0008135","OMIM:165510","UMLS:C1833799","UMLS:C5435585","MESH:C563494","medgen:1768962"],"information_content":100.0}
{"id":"MONDO:0008136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated optic nerve hypoplasia","equivalent_identifiers":["MONDO:0008136","DOID:0111531","OMIM:165550","orphanet:637061","UMLS:C0338502","UMLS:C1833797","UMLS:C1833798","UMLS:C4510723","UMLS:C5936708","MESH:C563492","MESH:C563493","MESH:D000080344","MEDDRA:10062942","NCIT:C101268","NCIT:C98999","SNOMEDCT:724999003","SNOMEDCT:95499004","medgen:322281","icd11.foundation:609162974","ICD10:H47.03","ICD9:377.43","HP:0000609"],"information_content":92.8}
{"id":"MONDO:0008137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome X","equivalent_identifiers":["MONDO:0008137","DOID:0060380","OMIM:165590","UMLS:C1833796","MESH:C563491","SNOMEDCT:722075004","medgen:322280"],"information_content":100.0}
{"id":"MONDO:0008138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic orbital border hypoplasia","equivalent_identifiers":["MONDO:0008138","OMIM:165600","orphanet:98606","UMLS:C1833795","UMLS:C4273912","MESH:C563490","SNOMEDCT:717337001","medgen:318965"],"information_content":100.0}
{"id":"MONDO:0008139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"OSLAM syndrome","equivalent_identifiers":["MONDO:0008139","OMIM:165660","orphanet:2760","UMLS:C1833792","MESH:C537138","SNOMEDCT:733064004","medgen:331588"],"information_content":100.0}
{"id":"MONDO:0008140","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ossified ear cartilages","equivalent_identifiers":["MONDO:0008140","OMIM:165670","UMLS:C1833791","MESH:C563488","medgen:331587"],"information_content":100.0}
{"id":"MONDO:0008141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ossicular malformations, familial","equivalent_identifiers":["MONDO:0008141","OMIM:165680","UMLS:C1833790","MESH:C537142","medgen:371652"],"information_content":100.0}
{"id":"MONDO:0008142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thiemann disease, familial form","equivalent_identifiers":["MONDO:0008142","OMIM:165700","orphanet:3314","UMLS:C0264081","MESH:C537144","SNOMEDCT:55166000","medgen:82674","icd11.foundation:67016273"],"information_content":100.0}
{"id":"MONDO:0008143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoarthritis susceptibility 1","inheritance":"Multifactorial inheritance","equivalent_identifiers":["MONDO:0008143","OMIM:165720","UMLS:C3887876","medgen:854604"],"information_content":100.0}
{"id":"MONDO:0008145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ollier disease","equivalent_identifiers":["MONDO:0008145","DOID:4624","OMIM:166000","OMIM:614569","orphanet:296","UMLS:C0013366","UMLS:C0014084","UMLS:C0024454","MESH:D004687","MEDDRA:10013891","MEDDRA:10014642","MEDDRA:10078027","MEDDRA:10083007","NCIT:C3008","NCIT:C3213","SNOMEDCT:268274005","SNOMEDCT:46041001","medgen:41775","HP:0005701"],"information_content":92.8}
{"id":"MONDO:0008146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 1","equivalent_identifiers":["MONDO:0008146","DOID:0110334","OMIM:166200","orphanet:216796","UMLS:C0023931","NCIT:C99003","SNOMEDCT:385482004","medgen:9799","icd11.foundation:1897905410"],"information_content":95.4}
{"id":"MONDO:0008147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 2","equivalent_identifiers":["MONDO:0008147","DOID:0110341","OMIM:166210","orphanet:216804","UMLS:C0268358","UMLS:C0268360","MESH:C536042","NCIT:C99001","SNOMEDCT:205496008","SNOMEDCT:254110009","SNOMEDCT:7134007","SNOMEDCT:86470003","medgen:75673","icd11.foundation:2024049157"],"information_content":100.0}
{"id":"MONDO:0008148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 4","equivalent_identifiers":["MONDO:0008148","DOID:0110340","OMIM:166220","orphanet:216820","UMLS:C0268363","MESH:C000631847","MESH:C536045","NCIT:C98576","SNOMEDCT:205497004","medgen:78665","icd11.foundation:829297901"],"information_content":100.0}
{"id":"MONDO:0008150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoglophonic dwarfism","equivalent_identifiers":["MONDO:0008150","DOID:0111532","OMIM:166250","orphanet:2645","UMLS:C0432283","MESH:C536050","SNOMEDCT:254144002","medgen:96592"],"information_content":100.0}
{"id":"MONDO:0008151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gnathodiaphyseal dysplasia","equivalent_identifiers":["MONDO:0008151","DOID:0111533","OMIM:166260","orphanet:53697","UMLS:C1833736","MESH:C536039","SNOMEDCT:715568002","medgen:331575","icd11.foundation:1984860886"],"information_content":100.0}
{"id":"MONDO:0008152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multicentric carpo-tarsal osteolysis with or without nephropathy","equivalent_identifiers":["MONDO:0008152","DOID:0111534","OMIM:166300","orphanet:2774","UMLS:C2674705","MESH:C567171","NCIT:C178416","SNOMEDCT:766992008","medgen:436237"],"information_content":100.0}
{"id":"MONDO:0008153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Osteoma cutis","equivalent_identifiers":["MONDO:0008153","DOID:0111535","OMIM:166350","orphanet:2762","UMLS:C0334041","MESH:C562735","MEDDRA:10048902","MEDDRA:10048982","NCIT:C132062","SNOMEDCT:404074003","SNOMEDCT:71304002","SNOMEDCT:719271000","medgen:137714","icd11.foundation:1107209347","HP:0025027"],"information_content":100.0}
{"id":"MONDO:0008154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteomas of mandible","equivalent_identifiers":["MONDO:0008154","OMIM:166400","UMLS:C1833733","MESH:C563485","medgen:318953"],"information_content":100.0}
{"id":"MONDO:0008155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteomesopyknosis","equivalent_identifiers":["MONDO:0008155","OMIM:166450","orphanet:2777","UMLS:C0432264","MESH:C537792","SNOMEDCT:254125009","medgen:98482","icd11.foundation:455371627"],"information_content":100.0}
{"id":"MONDO:0008156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant osteopetrosis 2","equivalent_identifiers":["MONDO:0008156","DOID:0110938","OMIM:166600","orphanet:53","UMLS:C3179239","SNOMEDCT:725050005","medgen:465707"],"information_content":100.0}
{"id":"MONDO:0008157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Buschke-Ollendorff syndrome","equivalent_identifiers":["MONDO:0008157","DOID:0111536","OMIM:166700","UMLS:C0265514","UMLS:C3149399","MESH:C537415","MEDDRA:10056289","MEDDRA:10056878","SNOMEDCT:60399005","medgen:120545","icd11.foundation:1556522143"],"information_content":100.0}
{"id":"MONDO:0008158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dacryocystitis-osteopoikilosis syndrome","equivalent_identifiers":["MONDO:0008158","OMIM:166705","UMLS:C1833698","MESH:C536061","SNOMEDCT:721082002","medgen:318939"],"information_content":100.0}
{"id":"MONDO:0008160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteosclerosis with ichthyosis and fractures","equivalent_identifiers":["MONDO:0008160","OMIM:166740","UMLS:C1833697","MESH:C563483","medgen:331568"],"information_content":100.0}
{"id":"MONDO:0008161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Globodontia","equivalent_identifiers":["MONDO:0008161","OMIM:166750","orphanet:2791","UMLS:C1833693","UMLS:C3873433","MESH:C563482","SNOMEDCT:1237343009","SNOMEDCT:707310009","medgen:318937"],"information_content":100.0}
{"id":"MONDO:0008162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otitis media, susceptibility to","equivalent_identifiers":["MONDO:0008162","OMIM:166760","UMLS:C0747085","UMLS:C1833692","MEDDRA:10066713","medgen:318936","HP:0000403"],"information_content":100.0}
{"id":"MONDO:0008163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otofaciocervical syndrome","equivalent_identifiers":["MONDO:0008163","OMIM.PS:166780","orphanet:2792","UMLS:C1833691","MESH:C563481","SNOMEDCT:763860004","medgen:322257"],"information_content":92.8}
{"id":"MONDO:0008164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otosclerosis 1","equivalent_identifiers":["MONDO:0008164","DOID:0060920","OMIM:166800","UMLS:C4551901","medgen:1639517"],"information_content":100.0}
{"id":"MONDO:0008165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"southeast Asian ovalocytosis","equivalent_identifiers":["MONDO:0008165","OMIM:166900","orphanet:98868","UMLS:C1862322","MESH:C566231","SNOMEDCT:191169008","SNOMEDCT:723623002","medgen:350649","icd11.foundation:835618545"],"information_content":100.0}
{"id":"MONDO:0008166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovalocytosis, hereditary hemolytic, with defective erythropoiesis","equivalent_identifiers":["MONDO:0008166","OMIM:166910","UMLS:C1833689","MESH:C563479","medgen:322255"],"information_content":100.0}
{"id":"MONDO:0008167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermoid cyst of ovary","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008167","DOID:5117","OMIM:166950","UMLS:C0237020","MESH:C562731","MEDDRA:10012524","NCIT:C3856","medgen:68637","icd11.foundation:1067463359","HP:0025274"],"information_content":100.0}
{"id":"MONDO:0008168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian fibroma","equivalent_identifiers":["MONDO:0008168","OMIM:166970","orphanet:314473","UMLS:C0149951","MESH:C562391","MEDDRA:10064257","NCIT:C3498","SNOMEDCT:254865006","medgen:57706","icd11.foundation:871413134","HP:0010618"],"information_content":90.9}
{"id":"MONDO:0008169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension","equivalent_identifiers":["MONDO:0008169","OMIM:166990","UMLS:C1833688","MESH:C563478","medgen:322254"],"information_content":100.0}
{"id":"MONDO:0008170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian cancer","equivalent_identifiers":["MONDO:0008170","DOID:2394","OMIM:167000","orphanet:213500","UMLS:C1140680","UMLS:C1299247","MESH:D010051","MEDDRA:10007107","MEDDRA:10026310","MEDDRA:10033128","MEDDRA:10033130","NCIT:C7431","SNOMEDCT:363443007","medgen:216027","icd11.foundation:685124533","ICD10:C56","ICD9:183.0"],"information_content":60.8}
{"id":"MONDO:0008171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrolithiasis","equivalent_identifiers":["MONDO:0008171","DOID:585","EFO:0004253","UMLS:C0156257","UMLS:C0392525","MESH:D053040","MEDDRA:10029148","MEDDRA:10038478","NCIT:C114667","SNOMEDCT:266556005","SNOMEDCT:95570007","medgen:98227","ICD10:N20","ICD9:592","HP:0000787"],"information_content":84.8}
{"id":"MONDO:0008172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic osteoarthropathy, primary, autosomal dominant","equivalent_identifiers":["MONDO:0008172","OMIM:167100","UMLS:C2674695","medgen:382429"],"information_content":100.0}
{"id":"MONDO:0008173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pachyonychia congenita 1","equivalent_identifiers":["MONDO:0008173","OMIM:167200","UMLS:C1706595","MEDDRA:10080089","SNOMEDCT:39427000","medgen:353335"],"information_content":100.0}
{"id":"MONDO:0008174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pachyonychia congenita 2","equivalent_identifiers":["MONDO:0008174","OMIM:167210","UMLS:C1721007","medgen:314107"],"information_content":100.0}
{"id":"MONDO:0008175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pacman dysplasia","equivalent_identifiers":["MONDO:0008175","OMIM:167220","orphanet:1952","UMLS:C1833676","MESH:C538095","SNOMEDCT:722127006","medgen:331566","icd11.foundation:519938437"],"information_content":100.0}
{"id":"MONDO:0008176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paget disease of bone 3","equivalent_identifiers":["MONDO:0008176","DOID:0081366","OMIM:167250","UMLS:C4085252","medgen:895927"],"information_content":100.0}
{"id":"MONDO:0008177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extramammary Paget disease","equivalent_identifiers":["MONDO:0008177","OMIM:167300","orphanet:2800","EFO:1000249","UMLS:C0030186","MESH:D010145","MEDDRA:10033366","MEDDRA:10068223","NCIT:C3302","SNOMEDCT:232336001","SNOMEDCT:71447003","medgen:45280","icd11.foundation:1796624917"],"information_content":83.1}
{"id":"MONDO:0008178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1","equivalent_identifiers":["MONDO:0008178","DOID:0111385","OMIM:167320","UMLS:C4551951","MESH:C563476","NCIT:C122663","medgen:1641069"],"information_content":100.0}
{"id":"MONDO:0008179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal extreme pain disorder","equivalent_identifiers":["MONDO:0008179","DOID:0111537","OMIM:167400","orphanet:46348","UMLS:C1833661","MESH:C563475","MEDDRA:10081856","NCIT:C125385","SNOMEDCT:699190008","medgen:331565","icd11.foundation:9604457"],"information_content":100.0}
{"id":"MONDO:0008180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital velopharyngeal incompetence","equivalent_identifiers":["MONDO:0008180","OMIM:167500","orphanet:2291","UMLS:C0042454","UMLS:C0454634","UMLS:C4280669","MESH:D014681","MEDDRA:10066790","SNOMEDCT:229726002","SNOMEDCT:229727006","SNOMEDCT:232416001","SNOMEDCT:278714002","medgen:52992","icd11.foundation:158386351","HP:0000220"],"information_content":100.0}
{"id":"MONDO:0008181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmaris longus muscle, absence of","equivalent_identifiers":["MONDO:0008181","OMIM:167600","UMLS:C1868661","medgen:357025"],"information_content":100.0}
{"id":"MONDO:0008182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasopalpebral lipoma-coloboma syndrome","equivalent_identifiers":["MONDO:0008182","OMIM:167730","orphanet:2399","UMLS:C1868660","MESH:C538338","SNOMEDCT:723411003","medgen:358378"],"information_content":100.0}
{"id":"MONDO:0008183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"annular pancreas","equivalent_identifiers":["MONDO:0008183","DOID:0060850","OMIM:167750","orphanet:675","UMLS:C0149955","MESH:C536376","MEDDRA:10071757","NCIT:C98813","SNOMEDCT:40315008","medgen:56211","icd11.foundation:1311285827","ICD10:Q45.1","HP:0001734"],"information_content":100.0}
{"id":"MONDO:0008185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary chronic pancreatitis","equivalent_identifiers":["MONDO:0008185","OMIM:167800","orphanet:676","UMLS:C0238339","UMLS:C1832108","UMLS:C1868653","UMLS:C1969419","MESH:C537262","MESH:C566837","MEDDRA:10056976","MEDDRA:10067412","NCIT:C95436","SNOMEDCT:235956004","SNOMEDCT:68072000","medgen:116056","icd11.foundation:1287702961"],"information_content":95.4}
{"id":"MONDO:0008187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panic disorder 1","equivalent_identifiers":["MONDO:0008187","OMIM:167870","UMLS:C1868649","medgen:401493"],"information_content":100.0}
{"id":"MONDO:0008188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillomatosis, confluent and reticulated","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008188","OMIM:167900","UMLS:C0263385","MESH:C566832","MEDDRA:10069414","MEDDRA:10079643","SNOMEDCT:89987007","medgen:472991"],"information_content":100.0}
{"id":"MONDO:0008189","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillomatosis, florid, of nipple","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008189","OMIM:167950","UMLS:C1868647","MESH:C000626393","MESH:C537167","SNOMEDCT:237467005","medgen:401492"],"information_content":100.0}
{"id":"MONDO:0008192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paragangliomas 1","equivalent_identifiers":["MONDO:0008192","OMIM:168000","EFO:0022485","UMLS:C0030422","UMLS:C1306262","UMLS:C3494181","MESH:D010236","MEDDRA:10051227","NCIT:C3309","SNOMEDCT:302834008","SNOMEDCT:51747000","medgen:488134"],"information_content":75.5}
{"id":"MONDO:0008194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paramolar tubercle of bolk","equivalent_identifiers":["MONDO:0008194","OMIM:168200","UMLS:C0266029","SNOMEDCT:78305006","medgen:539640"],"information_content":100.0}
{"id":"MONDO:0008195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paramyotonia congenita of Von Eulenburg","equivalent_identifiers":["MONDO:0008195","DOID:0111538","OMIM:168300","orphanet:684","UMLS:C0221055","UMLS:C1868619","MEDDRA:10088318","NCIT:C122790","NCIT:C122794","SNOMEDCT:41574007","medgen:113142","icd11.foundation:1740060527","ICD10:G71.19"],"information_content":95.4}
{"id":"MONDO:0008196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parastremmatic dwarfism","equivalent_identifiers":["MONDO:0008196","DOID:0111539","OMIM:168400","UMLS:C1868616","MESH:C537172","SNOMEDCT:722210007","medgen:358366","icd11.foundation:431936114"],"information_content":100.0}
{"id":"MONDO:0008197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parietal foramina 1","equivalent_identifiers":["MONDO:0008197","OMIM:168500","UMLS:C1868599","MESH:C566827","medgen:401480"],"information_content":100.0}
{"id":"MONDO:0008198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parietal foramina with cleidocranial dysplasia","equivalent_identifiers":["MONDO:0008198","OMIM:168550","orphanet:251290","UMLS:C1868597","MESH:C566825","SNOMEDCT:771338002","medgen:401479"],"information_content":100.0}
{"id":"MONDO:0008199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late-onset Parkinson disease","equivalent_identifiers":["MONDO:0008199","DOID:0060892","OMIM:168600","orphanet:411602","UMLS:C3160718","UMLS:C4274355","SNOMEDCT:716662004","medgen:463618"],"information_content":84.8}
{"id":"MONDO:0008200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Parkinson disease 1","equivalent_identifiers":["MONDO:0008200","DOID:0060367","OMIM:168601","UMLS:C1868595","UMLS:C1868596","UMLS:C3489791","MESH:C566823","NCIT:C198602","medgen:357008"],"information_content":100.0}
{"id":"MONDO:0008201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perry syndrome","equivalent_identifiers":["MONDO:0008201","DOID:0060486","OMIM:168605","orphanet:178509","UMLS:C1868594","MESH:C566822","MEDDRA:10079207","SNOMEDCT:699184009","medgen:357007","icd11.foundation:1441227658"],"information_content":100.0}
{"id":"MONDO:0008202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parotidomegaly, hereditary bilateral","equivalent_identifiers":["MONDO:0008202","OMIM:168800","UMLS:C1868590","MESH:C566821","medgen:401477"],"information_content":100.0}
{"id":"MONDO:0008205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Absent patella","equivalent_identifiers":["MONDO:0008205","OMIM:168860","orphanet:86789","UMLS:C1868577","MESH:C535568","medgen:358246","icd11.foundation:88577362","HP:0006498"],"information_content":90.9}
{"id":"MONDO:0008206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign paroxysmal tonic upgaze of childhood with ataxia","equivalent_identifiers":["MONDO:0008206","OMIM:168885","orphanet:1179","UMLS:C1868576","MESH:C566817","SNOMEDCT:763127004","medgen:401473"],"information_content":100.0}
{"id":"MONDO:0008207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondromalacia patellae","equivalent_identifiers":["MONDO:0008207","DOID:13357","OMIM:168900","UMLS:C0008475","MESH:D046789","MEDDRA:10008731","MEDDRA:10008732","SNOMEDCT:36071006","medgen:939","icd11.foundation:1589625540","ICD10:M22.4","ICD9:717.7"],"information_content":100.0}
{"id":"MONDO:0008209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Char syndrome","equivalent_identifiers":["MONDO:0008209","DOID:0060563","OMIM:169100","orphanet:46627","UMLS:C1868570","MESH:C566815","SNOMEDCT:703534001","medgen:358356"],"information_content":100.0}
{"id":"MONDO:0008210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patterned macular dystrophy 1","equivalent_identifiers":["MONDO:0008210","DOID:0060866","OMIM:169150","UMLS:C4551999","medgen:1646806"],"information_content":100.0}
{"id":"MONDO:0008211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudoleprechaunism syndrome, Patterson type","equivalent_identifiers":["MONDO:0008211","OMIM:169170","orphanet:2976","UMLS:C1868546","MESH:C536310","SNOMEDCT:771262009","medgen:358350"],"information_content":100.0}
{"id":"MONDO:0008212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pechet factor deficiency","equivalent_identifiers":["MONDO:0008212","OMIM:169200","UMLS:C1868545","MESH:C566814","medgen:358349"],"information_content":100.0}
{"id":"MONDO:0008213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Funnel Chest","equivalent_identifiers":["MONDO:0008213","OMIM:169300","UMLS:C0016842","UMLS:C2051831","MESH:D005660","MEDDRA:10009809","MEDDRA:10017550","MEDDRA:10017551","MEDDRA:10020351","MEDDRA:10034204","NCIT:C168386","SNOMEDCT:391982004","SNOMEDCT:391987005","medgen:781174","icd11.foundation:9248522","HP:0000767"],"information_content":95.4}
{"id":"MONDO:0008214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pelger-Huet anomaly","equivalent_identifiers":["MONDO:0008214","DOID:9631","OMIM:169400","EFO:1001093","UMLS:C0030779","UMLS:C4023351","MESH:D010381","NCIT:C85002","SNOMEDCT:85559002","medgen:10617","icd11.foundation:1210390183","HP:0011447"],"information_content":100.0}
{"id":"MONDO:0008215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset autosomal dominant demyelinating leukodystrophy","equivalent_identifiers":["MONDO:0008215","DOID:0051015","DOID:0060785","OMIM.PS:169500","orphanet:99027","UMLS:C1868512","UMLS:C3164344","MESH:C566813","SNOMEDCT:448054001","medgen:356995"],"information_content":92.8}
{"id":"MONDO:0008216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelvic lipomatosis with crossed renal ectopia","equivalent_identifiers":["MONDO:0008216","OMIM:169545","UMLS:C1868511","MESH:C566812","medgen:356994"],"information_content":100.0}
{"id":"MONDO:0008217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelvis-shoulder dysplasia","equivalent_identifiers":["MONDO:0008217","OMIM:169550","orphanet:2839","UMLS:C1868508","MESH:C566811","SNOMEDCT:719298001","medgen:356991"],"information_content":100.0}
{"id":"MONDO:0008218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hailey-Hailey disease","equivalent_identifiers":["MONDO:0008218","DOID:0050429","DOID:2732","OMIM:169600","OMIM:268400","OMIM:618625","orphanet:2841","UMLS:C0032339","UMLS:C0085106","UMLS:C5203410","UMLS:C5231433","MESH:D011038","MESH:D016506","MEDDRA:10004264","MEDDRA:10004265","MEDDRA:10016203","MEDDRA:10019029","MEDDRA:10052465","MEDDRA:10052510","NCIT:C178826","NCIT:C178827","NCIT:C3335","NCIT:C82865","SNOMEDCT:1003922004","SNOMEDCT:1003923009","SNOMEDCT:69093006","SNOMEDCT:79468000","medgen:43100","icd11.foundation:818400628","ICD10:Q82.8"],"information_content":89.4}
{"id":"MONDO:0008219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pemphigus vulgaris","equivalent_identifiers":["MONDO:0008219","DOID:0060851","OMIM:169610","orphanet:704","EFO:0004719","UMLS:C0030809","UMLS:C1868502","MESH:C536645","MEDDRA:10052802","NCIT:C34910","SNOMEDCT:49420001","medgen:10621","icd11.foundation:278358681","ICD10:L10.0"],"information_content":95.4}
{"id":"MONDO:0008221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prolidase deficiency","equivalent_identifiers":["MONDO:0008221","DOID:0111540","OMIM:170100","orphanet:742","UMLS:C0268532","MESH:D056732","NCIT:C85029","SNOMEDCT:360994007","SNOMEDCT:410055005","medgen:120647","icd11.foundation:1416203271"],"information_content":100.0}
{"id":"MONDO:0008222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Andersen-Tawil syndrome","equivalent_identifiers":["MONDO:0008222","DOID:0050434","OMIM:170390","orphanet:37553","UMLS:C1563715","MESH:D050030","MEDDRA:10083859","MEDDRA:10083896","NCIT:C84559","SNOMEDCT:422348008","medgen:327586"],"information_content":100.0}
{"id":"MONDO:0008223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypokalemic periodic paralysis","equivalent_identifiers":["MONDO:0008223","DOID:14452","orphanet:681","UMLS:C0238358","MESH:D020514","MEDDRA:10075234","MEDDRA:10075238","NCIT:C84775","SNOMEDCT:82732003","medgen:116058","icd11.foundation:1494773635"],"information_content":92.8}
{"id":"MONDO:0008224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperkalemic periodic paralysis","equivalent_identifiers":["MONDO:0008224","DOID:14451","OMIM:170500","orphanet:682","UMLS:C0238357","UMLS:C1868433","MESH:C566809","MESH:D020513","MEDDRA:10076439","MEDDRA:10076440","NCIT:C123429","SNOMEDCT:304737009","medgen:68665","icd11.foundation:1308452752","HP:0007215"],"information_content":100.0}
{"id":"MONDO:0008226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periodontitis, aggressive 1","equivalent_identifiers":["MONDO:0008226","DOID:1474","OMIM:170650","EFO:0006342","UMLS:C0031106","UMLS:C0266928","UMLS:C4551681","MESH:D010520","SNOMEDCT:449908004","medgen:1644602","ICD10:K05.2"],"information_content":100.0}
{"id":"MONDO:0008227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral dysostosis","equivalent_identifiers":["MONDO:0008227","OMIM:170700","UMLS:C4721502","medgen:1648357"],"information_content":100.0}
{"id":"MONDO:0008228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pernicious anemia","equivalent_identifiers":["MONDO:0008228","DOID:13381","OMIM:170900","EFO:0005576","UMLS:C0002892","MESH:D000752","MEDDRA:10001129","MEDDRA:10001131","MEDDRA:10001132","MEDDRA:10001134","MEDDRA:10002075","MEDDRA:10002308","MEDDRA:10034695","MEDDRA:10034696","MEDDRA:10034697","MEDDRA:10055192","MEDDRA:10055711","MEDDRA:10055712","MEDDRA:10055713","MEDDRA:10062829","NCIT:C2871","SNOMEDCT:84027009","medgen:1531","ICD10:D51.0","ICD9:281.0"],"information_content":100.0}
{"id":"MONDO:0008229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroneal nerve, accessory deep","equivalent_identifiers":["MONDO:0008229","OMIM:170980","UMLS:C1868426","MESH:C536001","medgen:358317"],"information_content":100.0}
{"id":"MONDO:0008231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Peyronie disease","inheritance":"Male-limited autosomal dominant","equivalent_identifiers":["MONDO:0008231","DOID:8616","OMIM:171000","EFO:1000466","UMLS:C0030848","MESH:D010411","MEDDRA:10034765","MEDDRA:10034766","MEDDRA:10053605","MEDDRA:10053606","MEDDRA:10053607","NCIT:C3316","SNOMEDCT:1335005","medgen:10629","ICD10:N48.6","ICD9:607.85"],"information_content":100.0}
{"id":"MONDO:0008233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pheochromocytoma","equivalent_identifiers":["MONDO:0008233","DOID:0050771","OMIM:171300","UMLS:C0031511","UMLS:C3149711","MESH:D010673","medgen:18419","HP:0002666"],"information_content":90.9}
{"id":"MONDO:0008235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pheochromocytoma-islet cell tumor syndrome","equivalent_identifiers":["MONDO:0008235","OMIM:171420","UMLS:C1868392","MESH:C566807","medgen:401431"],"information_content":100.0}
{"id":"MONDO:0008236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phlebectasia of lips","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008236","OMIM:171450","UMLS:C1868391","MESH:C566806","medgen:356962"],"information_content":100.0}
{"id":"MONDO:0008240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"6-phosphogluconolactonase deficiency","equivalent_identifiers":["MONDO:0008240","OMIM:172150","UMLS:C1868355","MESH:C566803","medgen:358188"],"information_content":100.0}
{"id":"MONDO:0008243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pick disease","equivalent_identifiers":["MONDO:0008243","DOID:11870","OMIM:172700","EFO:0003096","UMLS:C0236642","MESH:D020774","MEDDRA:10009204","MEDDRA:10035003","NCIT:C85008","SNOMEDCT:13092008","medgen:116020","ICD10:G31.01","ICD9:331.11"],"information_content":100.0}
{"id":"MONDO:0008244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"piebaldism","equivalent_identifiers":["MONDO:0008244","DOID:3263","OMIM:172800","orphanet:2884","UMLS:C0080024","MESH:D016116","MEDDRA:10084262","NCIT:C85009","SNOMEDCT:6479008","SNOMEDCT:718122005","medgen:36361","icd11.foundation:2089421143","ICD10:E70.39","HP:0007544"],"information_content":100.0}
{"id":"MONDO:0008245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"piebald trait-neurologic defects syndrome","equivalent_identifiers":["MONDO:0008245","OMIM:172850","orphanet:2885","UMLS:C1868311","MESH:C536955","SNOMEDCT:773984007","medgen:358177"],"information_content":100.0}
{"id":"MONDO:0008246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pigmented paravenous retinochoroidal atrophy","equivalent_identifiers":["MONDO:0008246","DOID:0111541","OMIM:172870","orphanet:251295","UMLS:C1868310","MESH:C566801","SNOMEDCT:723450004","medgen:401413","icd11.foundation:1278139412"],"information_content":100.0}
{"id":"MONDO:0008247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Robin sequence-oligodactyly syndrome","equivalent_identifiers":["MONDO:0008247","OMIM:172880","orphanet:3104","UMLS:C1868309","MESH:C535688","medgen:358176"],"information_content":100.0}
{"id":"MONDO:0008249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pilonidal sinus","equivalent_identifiers":["MONDO:0008249","OMIM:173000","UMLS:C0031925","MESH:D010864","MEDDRA:10035043","MEDDRA:10068314","NCIT:C34931","SNOMEDCT:16225231000119104","SNOMEDCT:47639008","medgen:19314","HP:0010769"],"information_content":100.0}
{"id":"MONDO:0008250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated growth hormone deficiency type II","equivalent_identifiers":["MONDO:0008250","DOID:0060872","OMIM:173100","orphanet:231679","UMLS:C0271567","MESH:C562704","SNOMEDCT:237687003","medgen:124405"],"information_content":100.0}
{"id":"MONDO:0008251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial pityriasis rubra pilaris","equivalent_identifiers":["MONDO:0008251","OMIM:173200","orphanet:2897","UMLS:C2930842","MESH:C531784","medgen:443914"],"information_content":100.0}
{"id":"MONDO:0008254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet disorder, undefined","equivalent_identifiers":["MONDO:0008254","OMIM:173420","UMLS:C1868258","MESH:C566799","medgen:401405"],"information_content":100.0}
{"id":"MONDO:0008255","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet factor 3 deficiency","equivalent_identifiers":["MONDO:0008255","OMIM:173450","UMLS:C1868256","MESH:C566798","medgen:356931"],"information_content":100.0}
{"id":"MONDO:0008258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet signal processing defect","equivalent_identifiers":["MONDO:0008258","OMIM:173590","UMLS:C1868199","MESH:C566796","medgen:357448"],"information_content":100.0}
{"id":"MONDO:0008259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial spontaneous pneumothorax","inheritance":"Typified by incomplete penetrance","equivalent_identifiers":["MONDO:0008259","DOID:0080218","OMIM:173600","orphanet:2903","UMLS:C1868193","UMLS:C4275252","MESH:C566795","MEDDRA:10073762","SNOMEDCT:328561000119107","SNOMEDCT:715219001","medgen:357445","icd11.foundation:319022944"],"information_content":100.0}
{"id":"MONDO:0008260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kindler syndrome","equivalent_identifiers":["MONDO:0008260","DOID:0060472","OMIM:173650","orphanet:2908","UMLS:C0406557","MESH:C536321","MEDDRA:10087383","MEDDRA:10087385","SNOMEDCT:238836000","medgen:96060","icd11.foundation:726317303"],"information_content":95.4}
{"id":"MONDO:0008261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sclerosing poikiloderma, Weary type","equivalent_identifiers":["MONDO:0008261","OMIM:173700","orphanet:221039","UMLS:C0343094","MESH:C562824","SNOMEDCT:238834002","medgen:91006","icd11.foundation:1538273632"],"information_content":100.0}
{"id":"MONDO:0008262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Poland syndrome","equivalent_identifiers":["MONDO:0008262","DOID:12961","OMIM:173800","orphanet:2911","UMLS:C0032357","UMLS:C1868156","MESH:C566793","MESH:D011045","MEDDRA:10036006","MEDDRA:10036007","MEDDRA:10042835","NCIT:C85017","SNOMEDCT:38371006","medgen:10822","icd11.foundation:1364451323","ICD10:Q79.8"],"information_content":100.0}
{"id":"MONDO:0008263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic kidney disease 1","equivalent_identifiers":["MONDO:0008263","DOID:0110858","OMIM:173900","UMLS:C2931174","UMLS:C3149841","MESH:C536326","MESH:C566792","SNOMEDCT:253878003","medgen:461191"],"information_content":100.0}
{"id":"MONDO:0008265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic liver disease 1","equivalent_identifiers":["MONDO:0008265","DOID:0060980","OMIM:174050","UMLS:C0887850","UMLS:C4255088","NCIT:C123167","SNOMEDCT:716196007","medgen:165781"],"information_content":100.0}
{"id":"MONDO:0008266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly, postaxial, type A1","equivalent_identifiers":["MONDO:0008266","OMIM:174200","UMLS:C4282400","medgen:924305"],"information_content":100.0}
{"id":"MONDO:0008267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome V","equivalent_identifiers":["MONDO:0008267","DOID:0060375","OMIM:174300","orphanet:2919","UMLS:C1868118","MESH:C557819","SNOMEDCT:722105002","medgen:358131"],"information_content":100.0}
{"id":"MONDO:0008268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly-myopia syndrome","equivalent_identifiers":["MONDO:0008268","OMIM:174310","orphanet:2917","UMLS:C0033046","UMLS:C1868117","MESH:C536331","MEDDRA:10036618","MEDDRA:10042838","SNOMEDCT:733087007","SNOMEDCT:82639001","medgen:357424"],"information_content":100.0}
{"id":"MONDO:0008269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly of a biphalangeal thumb","equivalent_identifiers":["MONDO:0008269","DOID:0060987","OMIM:174400","orphanet:93339","UMLS:C1395852","MESH:C536332","SNOMEDCT:445216006","medgen:237235","HP:0001177"],"information_content":92.8}
{"id":"MONDO:0008270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly of a triphalangeal thumb","equivalent_identifiers":["MONDO:0008270","DOID:0060986","OMIM:174500","orphanet:93336","UMLS:C0241397","UMLS:C1868114","MESH:C573898","SNOMEDCT:205308004","SNOMEDCT:715710001","medgen:357423","icd11.foundation:728781925","HP:0001199"],"information_content":90.9}
{"id":"MONDO:0008271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly of an index finger","equivalent_identifiers":["MONDO:0008271","OMIM:174600","orphanet:93337","UMLS:C1868113","MESH:C566784","SNOMEDCT:723446006","medgen:357422","icd11.foundation:982050714"],"information_content":92.8}
{"id":"MONDO:0008272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polysyndactyly 4","equivalent_identifiers":["MONDO:0008272","DOID:0060985","OMIM:174700","orphanet:93338","UMLS:C1868111","MESH:C536333","medgen:357420","icd11.foundation:973656080"],"information_content":92.8}
{"id":"MONDO:0008273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"actinic prurigo","equivalent_identifiers":["MONDO:0008273","OMIM:174770","orphanet:330061","UMLS:C0406217","UMLS:C1868090","MESH:C566780","MESH:C566781","MEDDRA:10000616","MEDDRA:10020474","SNOMEDCT:201015007","medgen:98348","icd11.foundation:1528164728"],"information_content":100.0}
{"id":"MONDO:0008274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyostotic fibrous dysplasia","equivalent_identifiers":["MONDO:0008274","orphanet:93276","UMLS:C0016065","MESH:D005359","MEDDRA:10036120","NCIT:C34610","SNOMEDCT:36517007","medgen:5180","icd11.foundation:771587091","HP:0010735"],"information_content":100.0}
{"id":"MONDO:0008275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial expansile osteolysis","equivalent_identifiers":["MONDO:0008275","DOID:0111542","OMIM:174810","orphanet:85195","UMLS:C0432292","MESH:C536335","SNOMEDCT:254153009","medgen:96593","icd11.foundation:1161028858"],"information_content":100.0}
{"id":"MONDO:0008277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stomach polyp","equivalent_identifiers":["MONDO:0008277","UMLS:C0236048","MESH:C562464","MEDDRA:10017817","MEDDRA:10036136","NCIT:C3954","SNOMEDCT:78809005","SNOMEDCT:87252009","medgen:68629","HP:0004394"],"information_content":80.2}
{"id":"MONDO:0008281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyposis, intestinal, scattered and discrete","equivalent_identifiers":["MONDO:0008281","OMIM:175400","UMLS:C1868006","medgen:358114"],"information_content":100.0}
{"id":"MONDO:0008282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyposis, intestinal, with multiple exostoses","equivalent_identifiers":["MONDO:0008282","OMIM:175450","UMLS:C1868005","MESH:C566776","medgen:401357"],"information_content":100.0}
{"id":"MONDO:0008284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyposis of gastric fundus without polyposis coli","equivalent_identifiers":["MONDO:0008284","UMLS:C1868001","MESH:C566775","medgen:357403","HP:0033769"],"information_content":100.0}
{"id":"MONDO:0008285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyps, multiple and recurrent inflammatory fibroid, gastrointestinal","equivalent_identifiers":["MONDO:0008285","OMIM:175510","EFO:0010279","UMLS:C1868000","UMLS:C5193005","MESH:C566774","medgen:1677803"],"information_content":100.0}
{"id":"MONDO:0008286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"crossed polysyndactyly","equivalent_identifiers":["MONDO:0008286","OMIM:175690","orphanet:2935","UMLS:C1867999","MESH:C566773","SNOMEDCT:770409009","medgen:358112","icd11.foundation:1884305247"],"information_content":100.0}
{"id":"MONDO:0008287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Greig Syndrome","equivalent_identifiers":["MONDO:0008287","DOID:14761","OMIM:175700","orphanet:380","UMLS:C0265306","MESH:C537300","MEDDRA:10053878","NCIT:C35255","SNOMEDCT:32985001","medgen:120531","icd11.foundation:606500237"],"information_content":92.8}
{"id":"MONDO:0008288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"popliteal cyst","equivalent_identifiers":["MONDO:0008288","OMIM:175750","UMLS:C0032650","MESH:D011151","MEDDRA:10004069","MEDDRA:10042859","MEDDRA:10063048","NCIT:C34935","SNOMEDCT:1290249005","SNOMEDCT:82675004","medgen:10853","HP:0032072"],"information_content":100.0}
{"id":"MONDO:0008289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain small vessel disease 1 with or without ocular anomalies","equivalent_identifiers":["MONDO:0008289","DOID:0090125","OMIM:175780","orphanet:36383","UMLS:C2930808","UMLS:C4551998","MESH:C531642","MESH:C564372","medgen:1647320"],"information_content":100.0}
{"id":"MONDO:0008290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis 1, Mibelli type","equivalent_identifiers":["MONDO:0008290","OMIM:175800"],"information_content":100.0}
{"id":"MONDO:0008291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis plantaris palmaris et disseminata","equivalent_identifiers":["MONDO:0008291","OMIM:175850","orphanet:737","UMLS:C0162838","SNOMEDCT:718218005","medgen:56517"],"information_content":100.0}
{"id":"MONDO:0008292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"punctate palmoplantar keratoderma type 2","equivalent_identifiers":["MONDO:0008292","DOID:0080213","OMIM:175860","orphanet:79502","UMLS:C1867982","MESH:C536338","SNOMEDCT:765096001","medgen:356886"],"information_content":100.0}
{"id":"MONDO:0008293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis 3, disseminated superficial actinic type","equivalent_identifiers":["MONDO:0008293","OMIM:175900","UMLS:C1867981","MESH:C536339","medgen:401352"],"information_content":100.0}
{"id":"MONDO:0008294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute intermittent porphyria","equivalent_identifiers":["MONDO:0008294","DOID:3890","OMIM:176000","orphanet:79276","UMLS:C0162565","UMLS:C1867969","UMLS:C2936779","MESH:C566769","MESH:D017118","MEDDRA:10000818","MEDDRA:10036182","NCIT:C84536","SNOMEDCT:234422006","SNOMEDCT:276263005","medgen:56452","icd11.foundation:1565229118"],"information_content":100.0}
{"id":"MONDO:0008295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sporadic porphyria cutanea tarda","equivalent_identifiers":["MONDO:0008295","OMIM:176090","orphanet:443057","UMLS:C1867968","MESH:C566768","SNOMEDCT:402479002","medgen:357391","icd11.foundation:1813031784"],"information_content":100.0}
{"id":"MONDO:0008296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial porphyria cutanea tarda","equivalent_identifiers":["MONDO:0008296","OMIM:176100","orphanet:443062","EFO:0009043","UMLS:C0268323","UMLS:C0342861","MEDDRA:10076618","SNOMEDCT:276262000","SNOMEDCT:59229005","medgen:75669","icd11.foundation:1318287619"],"information_content":95.4}
{"id":"MONDO:0008297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"variegate porphyria","equivalent_identifiers":["MONDO:0008297","DOID:4346","OMIM:176200","orphanet:79473","UMLS:C0162532","MESH:D046350","MEDDRA:10047030","NCIT:C85219","SNOMEDCT:58275005","medgen:58118","icd11.foundation:1227474618"],"information_content":95.4}
{"id":"MONDO:0008298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postaxial tetramelic oligodactyly","equivalent_identifiers":["MONDO:0008298","OMIM:176240","orphanet:2730","UMLS:C1867924","MESH:C566767","SNOMEDCT:770946000","medgen:357380"],"information_content":100.0}
{"id":"MONDO:0008299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior column ataxia","equivalent_identifiers":["MONDO:0008299","OMIM:176250","UMLS:C1867923","MESH:C536342","medgen:357379"],"information_content":100.0}
{"id":"MONDO:0008300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prader-Willi syndrome","equivalent_identifiers":["MONDO:0008300","DOID:11983","OMIM:176270","orphanet:739","UMLS:C0032897","UMLS:C1867858","UMLS:C1867859","MESH:C566764","MESH:D011218","MEDDRA:10036476","NCIT:C75463","SNOMEDCT:89392001","medgen:46057","icd11.foundation:393773440","ICD10:Q87.11","ICD9:759.81"],"information_content":86.3}
{"id":"MONDO:0008301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Guttmacher syndrome","equivalent_identifiers":["MONDO:0008301","DOID:0111544","OMIM:176305","orphanet:2957","UMLS:C1867801","MESH:C538278","SNOMEDCT:722452004","medgen:401304"],"information_content":100.0}
{"id":"MONDO:0008302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central precocious puberty 1","equivalent_identifiers":["MONDO:0008302","DOID:0112310","OMIM:176400","UMLS:C3805879","medgen:812209"],"information_content":100.0}
{"id":"MONDO:0008303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Testotoxicosis","equivalent_identifiers":["MONDO:0008303","DOID:0111545","OMIM:176410","orphanet:3000","UMLS:C0342549","UMLS:C1504412","UMLS:C2674612","MESH:C536961","MESH:C567168","MEDDRA:10063654","MEDDRA:10063656","SNOMEDCT:237818003","SNOMEDCT:725295005","medgen:87444"],"information_content":100.0}
{"id":"MONDO:0008304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature chromatid separation trait","equivalent_identifiers":["MONDO:0008304","OMIM:176430","EFO:0009077","UMLS:C1864389","medgen:400517"],"information_content":100.0}
{"id":"MONDO:0008305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Currarino triad","equivalent_identifiers":["MONDO:0008305","DOID:0111546","OMIM:176450","orphanet:1552","UMLS:C1531773","UMLS:C1867774","UMLS:C1867775","MESH:C536221","MESH:C566762","MEDDRA:10079857","SNOMEDCT:413936007","medgen:323460","icd11.foundation:1532133816"],"information_content":100.0}
{"id":"MONDO:0008306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABri amyloidosis","equivalent_identifiers":["MONDO:0008306","DOID:0070029","OMIM:176500","orphanet:97345","UMLS:C0342608","UMLS:C5190835","MESH:C538208","SNOMEDCT:783161005","medgen:1677186","icd11.foundation:1037669378"],"information_content":100.0}
{"id":"MONDO:0008307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"presenile dementia, Kraepelin type","equivalent_identifiers":["MONDO:0008307","OMIM:176600","UMLS:C1867772","MESH:C535273","medgen:356847"],"information_content":100.0}
{"id":"MONDO:0008309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary release disorder of platelets","equivalent_identifiers":["MONDO:0008309","OMIM:176630","UMLS:C1867770","MESH:C566759","medgen:356845"],"information_content":100.0}
{"id":"MONDO:0008310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progeria","equivalent_identifiers":["MONDO:0008310","DOID:3911","OMIM:176670","orphanet:740","UMLS:C0033300","UMLS:C2750285","MESH:C567661","MEDDRA:10036794","NCIT:C34951","SNOMEDCT:238870004","medgen:46123","ICD10:E34.8"],"information_content":100.0}
{"id":"MONDO:0008311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progeria-short stature-pigmented nevi syndrome","equivalent_identifiers":["MONDO:0008311","OMIM:176690","orphanet:2959","UMLS:C1261128","MESH:C536422","SNOMEDCT:399947002","medgen:224702"],"information_content":100.0}
{"id":"MONDO:0008312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant prognathism","equivalent_identifiers":["MONDO:0008312","OMIM:176700","orphanet:2964","UMLS:C0302501","UMLS:C0399526","UMLS:C2227134","UMLS:C4280644","UMLS:C4280645","MESH:D008313","MEDDRA:10026741","MEDDRA:10069004","MEDDRA:10069006","SNOMEDCT:109504005","SNOMEDCT:22810007","medgen:98316","HP:0000303"],"information_content":95.4}
{"id":"MONDO:0008313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelvic organ prolapse, susceptibility to","equivalent_identifiers":["MONDO:0008313","OMIM:176780","UMLS:C0205990","UMLS:C1868686","UMLS:C2752090","MEDDRA:10036842","MEDDRA:10046940","SNOMEDCT:398022005","medgen:442887"],"information_content":100.0}
{"id":"MONDO:0008315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate cancer","equivalent_identifiers":["MONDO:0008315","DOID:10283","UMLS:C0376358","MESH:D011471","MEDDRA:10007113","MEDDRA:10026389","MEDDRA:10036908","MEDDRA:10036910","MEDDRA:10036946","MEDDRA:10060862","NCIT:C7378","SNOMEDCT:399068003","medgen:138169","ICD10:C61","ICD9:185","KEGG.DISEASE:05215","HP:0012125"],"information_content":63.6}
{"id":"MONDO:0008316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia due to protein C deficiency, autosomal dominant","equivalent_identifiers":["MONDO:0008316","DOID:0111909","OMIM:176860","UMLS:C2674321","UMLS:C2674322","MESH:C567163","MESH:C567164","SNOMEDCT:1217410004","medgen:436138"],"information_content":100.0}
{"id":"MONDO:0008318","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Proteus syndrome","equivalent_identifiers":["MONDO:0008318","DOID:13482","OMIM:176920","orphanet:744","UMLS:C0085261","UMLS:C1867610","MESH:C537716","MESH:D016715","MEDDRA:10074067","NCIT:C85032","SNOMEDCT:23150001","medgen:39008","icd11.foundation:760267333"],"information_content":95.4}
{"id":"MONDO:0008319","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"protoporphyria, erythropoietic, 1","equivalent_identifiers":["MONDO:0008319","OMIM:177000","UMLS:C0349426","UMLS:C4692546","NCIT:C84698","SNOMEDCT:276265003","medgen:1643471"],"information_content":100.0}
{"id":"MONDO:0008320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Protrusio acetabuli","equivalent_identifiers":["MONDO:0008320","OMIM:177050","UMLS:C0343174","UMLS:C0409495","MEDDRA:10090179","SNOMEDCT:239881008","SNOMEDCT:59606006","medgen:98369","HP:0003179"],"information_content":100.0}
{"id":"MONDO:0008321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pruritus, hereditary localized","equivalent_identifiers":["MONDO:0008321","OMIM:177100","UMLS:C1867499","MESH:C566754","medgen:356792"],"information_content":100.0}
{"id":"MONDO:0008322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudoachondroplasia","equivalent_identifiers":["MONDO:0008322","DOID:0080047","OMIM:177170","orphanet:750","UMLS:C0410538","MESH:C535819","NCIT:C118635","SNOMEDCT:22567005","medgen:98378","icd11.foundation:1192649257"],"information_content":100.0}
{"id":"MONDO:0008323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Liddle syndrome","equivalent_identifiers":["MONDO:0008323","DOID:0050477","OMIM.PS:177200","orphanet:526","UMLS:C0221043","MESH:D056929","MEDDRA:10037105","MEDDRA:10037113","MEDDRA:10052313","MEDDRA:10084243","NCIT:C84827","SNOMEDCT:707747007","medgen:67439"],"information_content":90.9}
{"id":"MONDO:0008325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pseudoatrophoderma colli","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008325","OMIM:177350","UMLS:C0406561","MESH:C562909","SNOMEDCT:238840009","medgen:96061"],"information_content":100.0}
{"id":"MONDO:0008328","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma 1, open angle, P","equivalent_identifiers":["MONDO:0008328","OMIM:177700","UMLS:C3888338","MESH:C566748","medgen:854866"],"information_content":100.0}
{"id":"MONDO:0008329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant pseudohypoaldosteronism type 1","equivalent_identifiers":["MONDO:0008329","DOID:0060855","OMIM:177735","orphanet:171871","UMLS:C1449842","UMLS:C4288934","NCIT:C126810","medgen:260623"],"information_content":100.0}
{"id":"MONDO:0008332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type von Willebrand disease","equivalent_identifiers":["MONDO:0008332","DOID:0111056","OMIM:177820","orphanet:52530","UMLS:C1280798","MESH:C536458","NCIT:C131681","SNOMEDCT:128115005","medgen:226914"],"information_content":100.0}
{"id":"MONDO:0008333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudoxanthoma elasticum, forme fruste","equivalent_identifiers":["MONDO:0008333","OMIM:177850","UMLS:C1867450","UMLS:C1867451","MESH:C566744","medgen:357280"],"information_content":100.0}
{"id":"MONDO:0008334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis 1","equivalent_identifiers":["MONDO:0008334","DOID:0111286","OMIM:177900","UMLS:C1867449","medgen:357279"],"information_content":100.0}
{"id":"MONDO:0008335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-craniofacial anomalies-genital hypoplasia syndrome","equivalent_identifiers":["MONDO:0008335","OMIM:177980","orphanet:2994","UMLS:C1867443","MESH:C535844","SNOMEDCT:716090004","medgen:357988"],"information_content":100.0}
{"id":"MONDO:0008336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pterygium colli, isolated","equivalent_identifiers":["MONDO:0008336","OMIM:177990","UMLS:C1867442","MESH:C566741","medgen:356780"],"information_content":100.0}
{"id":"MONDO:0008337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial pterygium of the conjunctiva","equivalent_identifiers":["MONDO:0008337","OMIM:178000","orphanet:2989","UMLS:C4274782","MESH:C566740","SNOMEDCT:716197003","medgen:896736"],"information_content":100.0}
{"id":"MONDO:0008338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A","equivalent_identifiers":["MONDO:0008338","DOID:0081321","OMIM:178110","orphanet:65743","UMLS:C1867440","MESH:C566739","SNOMEDCT:771269000","medgen:401232"],"information_content":100.0}
{"id":"MONDO:0008339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"antecubital pterygium syndrome","equivalent_identifiers":["MONDO:0008339","OMIM:178200","orphanet:2987","UMLS:C1867439","MESH:C566738","SNOMEDCT:784351000","medgen:401231","HP:0009760"],"information_content":100.0}
{"id":"MONDO:0008340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ptosis, hereditary congenital, 1","equivalent_identifiers":["MONDO:0008340","DOID:0060261","OMIM:178300","orphanet:91411","UMLS:C0266573","UMLS:C1867438","MESH:C566737","MEDDRA:10010596","MEDDRA:10010597","MEDDRA:10015996","NCIT:C27049","SNOMEDCT:268163008","SNOMEDCT:61989004","medgen:357987","ICD10:Q10.0","ICD9:743.61","HP:0007970"],"information_content":95.4}
{"id":"MONDO:0008341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ptosis-strabismus-ectopic pupils syndrome","equivalent_identifiers":["MONDO:0008341","OMIM:178330","orphanet:2999","UMLS:C1867437","MESH:C566736","medgen:356778"],"information_content":100.0}
{"id":"MONDO:0008342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pubic bone dysplasia","equivalent_identifiers":["MONDO:0008342","OMIM:178350","UMLS:C1867436","MESH:C566735","medgen:356777"],"information_content":100.0}
{"id":"MONDO:0008343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary atresia with ventricular septal defect","equivalent_identifiers":["MONDO:0008343","OMIM:178370","orphanet:1207","UMLS:C0344976","MESH:C562833","NCIT:C99033","SNOMEDCT:253591008","medgen:87492"],"information_content":100.0}
{"id":"MONDO:0008344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary edema of mountaineers, susceptibility to","equivalent_identifiers":["MONDO:0008344","OMIM:178400","EFO:1002002","UMLS:C0340552","MESH:C535833","SNOMEDCT:233954004","medgen:83314"],"information_content":100.0}
{"id":"MONDO:0008346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"siderosis","equivalent_identifiers":["MONDO:0008346","DOID:10328","DOID:12118","OMIM:178550","orphanet:99931","UMLS:C0020807","UMLS:C0037061","UMLS:C0340176","UMLS:C5780940","MESH:D000097545","MESH:D012806","MEDDRA:10021241","MEDDRA:10021242","MEDDRA:10037396","MEDDRA:10037399","MEDDRA:10085555","NCIT:C197968","SNOMEDCT:40527005","SNOMEDCT:62371005","medgen:9403","icd11.foundation:1542272036","ICD10:J63.4","ICD10:J84.03","ICD9:516.1"],"information_content":89.4}
{"id":"MONDO:0008348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary nodular lymphoid hyperplasia","equivalent_identifiers":["MONDO:0008348","OMIM:178610","orphanet:60026","UMLS:C1334969","UMLS:C1867419","MEDDRA:10077412","NCIT:C35713","SNOMEDCT:718097008","medgen:401226"],"information_content":100.0}
{"id":"MONDO:0008349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ciuffo Syndrome","equivalent_identifiers":["MONDO:0008349","OMIM:178650","UMLS:C1867407","MESH:C566733","medgen:357274"],"information_content":100.0}
{"id":"MONDO:0008350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonic stenosis and deafness","equivalent_identifiers":["MONDO:0008350","OMIM:178651","UMLS:C1867406","medgen:357273"],"information_content":100.0}
{"id":"MONDO:0008352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pupillary membrane, persistence of","equivalent_identifiers":["MONDO:0008352","OMIM:178900","UMLS:C0271130","MESH:C562700","medgen:124386"],"information_content":100.0}
{"id":"MONDO:0008353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pruritic urticarial papules and plaques of pregnancy","equivalent_identifiers":["MONDO:0008353","OMIM:178995","orphanet:64745","UMLS:C0269680","MESH:C535817","MEDDRA:10066100","MEDDRA:10066113","MEDDRA:10088605","SNOMEDCT:1252747005","SNOMEDCT:88697005","medgen:78710","icd11.foundation:968694549"],"information_content":100.0}
{"id":"MONDO:0008355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyloric stenosis, infantile hypertrophic, 1","equivalent_identifiers":["MONDO:0008355","OMIM:179010","UMLS:C1867403","medgen:357978"],"information_content":100.0}
{"id":"MONDO:0008356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radial heads, posterior dislocation of","equivalent_identifiers":["MONDO:0008356","OMIM:179200","UMLS:C1867398","MESH:C566728","medgen:357272","HP:0005798"],"information_content":100.0}
{"id":"MONDO:0008357","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","equivalent_identifiers":["MONDO:0008357","OMIM:179250","orphanet:2252","UMLS:C1867397","MESH:C536262","SNOMEDCT:716092007","medgen:357271"],"information_content":100.0}
{"id":"MONDO:0008358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radial ray hypoplasia-choanal atresia syndrome","equivalent_identifiers":["MONDO:0008358","OMIM:179270","orphanet:3026","UMLS:C2931464","MESH:C537280","SNOMEDCT:232373003","medgen:419083"],"information_content":100.0}
{"id":"MONDO:0008359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radio-renal syndrome","equivalent_identifiers":["MONDO:0008359","OMIM:179280","orphanet:3015","UMLS:C1867396","UMLS:C2931146","MESH:C536267","SNOMEDCT:766765009","medgen:419723"],"information_content":100.0}
{"id":"MONDO:0008361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radius, aplasia of, with cleft lip/palate","equivalent_identifiers":["MONDO:0008361","OMIM:179400","UMLS:C1867395","medgen:357270"],"information_content":100.0}
{"id":"MONDO:0008363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"raindrop hypopigmentation","equivalent_identifiers":["MONDO:0008363","OMIM:179500","UMLS:C1867393","MESH:C566724","medgen:356767"],"information_content":100.0}
{"id":"MONDO:0008364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Raynaud disease","equivalent_identifiers":["MONDO:0008364","DOID:10300","OMIM:179600","EFO:1001145","UMLS:C0034734","UMLS:C0034735","UMLS:C1282916","MESH:D011928","MEDDRA:10037910","MEDDRA:10037912","MEDDRA:10037914","MEDDRA:10037917","NCIT:C116359","NCIT:C50724","SNOMEDCT:195295006","SNOMEDCT:266261006","SNOMEDCT:356198000","medgen:20473","ICD10:I73.0","HP:0030880"],"information_content":92.8}
{"id":"MONDO:0008365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recombinant 8 syndrome","equivalent_identifiers":["MONDO:0008365","OMIM:179613","orphanet:96167","UMLS:C0795822","MESH:C535296","SNOMEDCT:718189004","medgen:167070"],"information_content":100.0}
{"id":"MONDO:0008367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"red cell phospholipid defect with hemolysis","equivalent_identifiers":["MONDO:0008367","OMIM:179700","UMLS:C1867339","MESH:C535298","medgen:357960"],"information_content":100.0}
{"id":"MONDO:0008368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant distal renal tubular acidosis","equivalent_identifiers":["MONDO:0008368","OMIM:179800","orphanet:93608"],"information_content":100.0}
{"id":"MONDO:0008369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proximal renal tubular acidosis","equivalent_identifiers":["MONDO:0008369","OMIM:179830","orphanet:47159","UMLS:C0268435","MEDDRA:10037080","NCIT:C123218","SNOMEDCT:24790002","medgen:82804","HP:0002049"],"information_content":92.8}
{"id":"MONDO:0008371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dowling-Degos disease","equivalent_identifiers":["MONDO:0008371","DOID:0060256","orphanet:79145","UMLS:C3714534","MESH:C562924","MEDDRA:10068651","medgen:811363","icd11.foundation:15123132","HP:6000745"],"information_content":89.4}
{"id":"MONDO:0008373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal arterial tortuosity","equivalent_identifiers":["MONDO:0008373","DOID:0111547","OMIM:180000","orphanet:75326","UMLS:C0423401","SNOMEDCT:247123003","medgen:140840","HP:0000631"],"information_content":95.4}
{"id":"MONDO:0008374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal cone dystrophy type 1","equivalent_identifiers":["MONDO:0008374","DOID:0081024","OMIM:180020","UMLS:C1867326","MESH:C566719","medgen:356747"],"information_content":100.0}
{"id":"MONDO:0008375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal detachment","equivalent_identifiers":["MONDO:0008375","DOID:5327","OMIM:180050","EFO:0005773","UMLS:C0035305","UMLS:C0154844","MESH:D012163","MEDDRA:10012533","MEDDRA:10012542","MEDDRA:10038848","MEDDRA:10038874","MEDDRA:10038875","MEDDRA:10040046","MEDDRA:10046144","MEDDRA:10064854","NCIT:C26874","SNOMEDCT:42059000","medgen:19759","ICD10:H33.2","ICD9:361.9","HP:0000541"],"information_content":87.2}
{"id":"MONDO:0008377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 1","equivalent_identifiers":["MONDO:0008377","DOID:0110390","OMIM:180100","UMLS:C0220701","MESH:C538365","medgen:67395"],"information_content":100.0}
{"id":"MONDO:0008378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 9","equivalent_identifiers":["MONDO:0008378","DOID:0110387","OMIM:180104","UMLS:C1867300","MESH:C566716","medgen:356743"],"information_content":100.0}
{"id":"MONDO:0008379","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 10","equivalent_identifiers":["MONDO:0008379","DOID:0110388","OMIM:180105","UMLS:C1867299","MESH:C566715","medgen:357247"],"information_content":100.0}
{"id":"MONDO:0008380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinoblastoma","equivalent_identifiers":["MONDO:0008380","DOID:4648","DOID:768","OMIM:180200","orphanet:790","UMLS:C0035335","UMLS:C0751483","MESH:D012175","MEDDRA:10038916","MEDDRA:10038918","NCIT:C7541","NCIT:C8495","SNOMEDCT:19906005","SNOMEDCT:370967009","medgen:20552","icd11.foundation:1855353671","HP:0009919"],"information_content":75.0}
{"id":"MONDO:0008381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dominant pericentral pigmentary retinopathy","equivalent_identifiers":["MONDO:0008381","DOID:0110420","OMIM:180210","UMLS:C1867261","MESH:C566713","medgen:357237"],"information_content":100.0}
{"id":"MONDO:0008383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rheumatoid arthritis","equivalent_identifiers":["MONDO:0008383","DOID:7148","OMIM:180300","EFO:0000685","UMLS:C0003873","UMLS:C1306838","UMLS:C1833448","MESH:D001172","MEDDRA:10003268","MEDDRA:10036856","MEDDRA:10039073","MEDDRA:10042952","NCIT:C2884","SNOMEDCT:69896004","medgen:2078","icd11.foundation:576319925","ICD10:M06.9","ICD9:714.0","KEGG.DISEASE:05323","HP:0001370"],"information_content":77.6}
{"id":"MONDO:0008385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhiny","equivalent_identifiers":["MONDO:0008385","OMIM:180360","UMLS:C1867222","MESH:C566708","medgen:401188"],"information_content":100.0}
{"id":"MONDO:0008386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Axenfeld-Rieger syndrome type 1","equivalent_identifiers":["MONDO:0008386","DOID:0110120","OMIM:180500","UMLS:C3714873","NCIT:C75015","medgen:811487"],"information_content":92.8}
{"id":"MONDO:0008387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring dermoid of cornea","equivalent_identifiers":["MONDO:0008387","DOID:0111548","OMIM:180550","orphanet:91481","UMLS:C1867155","MESH:C535684","SNOMEDCT:723499000","medgen:357922","icd11.foundation:271430543"],"information_content":100.0}
{"id":"MONDO:0008388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pili annulati","equivalent_identifiers":["MONDO:0008388","OMIM:180600","orphanet:169","UMLS:C0263489","MESH:C537187","SNOMEDCT:21926007","medgen:75523"],"information_content":100.0}
{"id":"MONDO:0008389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Robinow syndrome","equivalent_identifiers":["MONDO:0008389","orphanet:3107","UMLS:C5200540","SNOMEDCT:76520005","SNOMEDCT:890233009","medgen:1675001","icd11.foundation:807338758"],"information_content":90.9}
{"id":"MONDO:0008390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rombo syndrome","equivalent_identifiers":["MONDO:0008390","OMIM:180730","orphanet:3110","UMLS:C1867147","MESH:C535870","SNOMEDCT:721904001","medgen:356704"],"information_content":100.0}
{"id":"MONDO:0008391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Robinow-Sorauf syndrome","equivalent_identifiers":["MONDO:0008391","OMIM:180750","UMLS:C1867146","MESH:C537183","medgen:356703","icd11.foundation:1272297510"],"information_content":100.0}
{"id":"MONDO:0008392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Roussy-Levy syndrome","equivalent_identifiers":["MONDO:0008392","OMIM:180800","orphanet:3115","UMLS:C0205713","MEDDRA:10063449","MEDDRA:10063450","SNOMEDCT:45853006","medgen:64430","icd11.foundation:1790389383"],"information_content":100.0}
{"id":"MONDO:0008393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rubinstein-Taybi syndrome due to CREBBP mutations","equivalent_identifiers":["MONDO:0008393","OMIM:180849","orphanet:353277","UMLS:C4551859","NCIT:C153290","medgen:1639327"],"information_content":100.0}
{"id":"MONDO:0008394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Silver-Russell syndrome","equivalent_identifiers":["MONDO:0008394","DOID:14681","OMIM.PS:180860","orphanet:813","UMLS:C0175693","MESH:D056730","MEDDRA:10062282","NCIT:C85068","SNOMEDCT:15069006","medgen:104492","icd11.foundation:735297495"],"information_content":83.6}
{"id":"MONDO:0008395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ruvalcaba syndrome","equivalent_identifiers":["MONDO:0008395","OMIM:180870","orphanet:3121","UMLS:C0265248","MESH:C579395","SNOMEDCT:3073006","medgen:120520"],"information_content":100.0}
{"id":"MONDO:0008396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculodental syndrome, Rutherfurd type","equivalent_identifiers":["MONDO:0008396","OMIM:180900","orphanet:2709","UMLS:C0796140","MESH:C537732","SNOMEDCT:699754008","medgen:163222","icd11.foundation:183543626"],"information_content":100.0}
{"id":"MONDO:0008397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aplasia of lacrimal and salivary glands","equivalent_identifiers":["MONDO:0008397","DOID:0111549","OMIM:180920","orphanet:86815","UMLS:C0158667","UMLS:C1867059","MESH:C562407","MESH:C566702","MEDDRA:10000328","SNOMEDCT:22589009","SNOMEDCT:715656004","medgen:57641","icd11.foundation:539255304","ICD9:750.21"],"information_content":100.0}
{"id":"MONDO:0008399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sarcoidosis, susceptibility to, 1","equivalent_identifiers":["MONDO:0008399","OMIM:181000","UMLS:C2697310","medgen:394568"],"information_content":100.0}
{"id":"MONDO:0008401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleomorphic adenoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0008401","DOID:452","OMIM:181030","EFO:1000518","UMLS:C0026277","UMLS:C1519176","MESH:C563250","MESH:D008949","MEDDRA:10073372","NCIT:C35691","NCIT:C40409","NCIT:C8602","SNOMEDCT:447888006","SNOMEDCT:8360001","medgen:275400"],"information_content":77.3}
{"id":"MONDO:0008402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Say syndrome","equivalent_identifiers":["MONDO:0008402","OMIM:181180","orphanet:2013","UMLS:C1867023","MESH:C536621","SNOMEDCT:763130006","medgen:357895"],"information_content":100.0}
{"id":"MONDO:0008403","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scalp defects-postaxial polydactyly syndrome","equivalent_identifiers":["MONDO:0008403","OMIM:181250","orphanet:1003","UMLS:C1867021","MESH:C536622","medgen:401140"],"information_content":100.0}
{"id":"MONDO:0008404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scalp-ear-nipple syndrome","equivalent_identifiers":["MONDO:0008404","DOID:0111550","OMIM:181270","orphanet:2036","UMLS:C1867020","MESH:C536623","SNOMEDCT:721888002","medgen:357183","icd11.foundation:88843032"],"information_content":100.0}
{"id":"MONDO:0008407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurogenic scapuloperoneal syndrome, Kaeser type","equivalent_identifiers":["MONDO:0008407","DOID:0111551","OMIM:181400","orphanet:85146","UMLS:C1867005","MESH:C566695","SNOMEDCT:1208615009","medgen:356670"],"information_content":100.0}
{"id":"MONDO:0008408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scapuloperoneal spinal muscular atrophy, autosomal dominant","equivalent_identifiers":["MONDO:0008408","DOID:0111552","OMIM:181405","orphanet:431255","EFO:1001992","UMLS:C0751335","SNOMEDCT:230248006","medgen:148283"],"information_content":100.0}
{"id":"MONDO:0008409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy 7A, myosin storage, autosomal dominant","equivalent_identifiers":["MONDO:0008409","DOID:0111269","OMIM:608358","orphanet:636965","UMLS:C1842160","UMLS:C4759774","MESH:C564253","SNOMEDCT:129620000","SNOMEDCT:699267007","medgen:374868"],"information_content":100.0}
{"id":"MONDO:0008410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scheuermann disease","equivalent_identifiers":["MONDO:0008410","DOID:13300","OMIM:181440","UMLS:C0036310","MESH:D012544","MEDDRA:10023263","MEDDRA:10039594","MEDDRA:10078680","NCIT:C34999","SNOMEDCT:53406005","medgen:19885","ICD10:M42.0","ICD9:732.0","HP:0010891"],"information_content":95.4}
{"id":"MONDO:0008411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulnar-mammary syndrome","equivalent_identifiers":["MONDO:0008411","DOID:0060614","OMIM:181450","orphanet:3138","UMLS:C1866994","MESH:C536937","MEDDRA:10084409","SNOMEDCT:700211007","medgen:357886","icd11.foundation:1508836700"],"information_content":100.0}
{"id":"MONDO:0008414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 1","equivalent_identifiers":["MONDO:0008414","DOID:0070077","OMIM:181510","UMLS:C0220702","medgen:65084"],"information_content":100.0}
{"id":"MONDO:0008416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sclerotylosis","equivalent_identifiers":["MONDO:0008416","OMIM:181600","orphanet:384","UMLS:C0406767","MESH:C537526","MEDDRA:10070504","SNOMEDCT:239076000","medgen:98360"],"information_content":100.0}
{"id":"MONDO:0008418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scleroderma, familial progressive","equivalent_identifiers":["MONDO:0008418","OMIM:181750","UMLS:C1866983","medgen:356661"],"information_content":100.0}
{"id":"MONDO:0008419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scoliosis, isolated, susceptibility to, 1","equivalent_identifiers":["MONDO:0008419","OMIM:181800","UMLS:C2700406","medgen:438003"],"information_content":100.0}
{"id":"MONDO:0008420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seborrheic keratosis","equivalent_identifiers":["MONDO:0008420","DOID:6498","OMIM:182000","EFO:0005584","UMLS:C0022603","UMLS:C4282032","MESH:D017492","MEDDRA:10004152","MEDDRA:10039791","MEDDRA:10039796","MEDDRA:10039797","MEDDRA:10039991","MEDDRA:10058231","MEDDRA:10078641","MEDDRA:10078644","NCIT:C9006","SNOMEDCT:25499005","SNOMEDCT:394726009","SNOMEDCT:398838000","medgen:5957","ICD9:702.1","HP:0031287"],"information_content":87.2}
{"id":"MONDO:0008421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"flat face-microstomia-ear anomaly syndrome","equivalent_identifiers":["MONDO:0008421","OMIM:182150","orphanet:1968","UMLS:C1866962","MESH:C537339","SNOMEDCT:773750003","medgen:356655"],"information_content":100.0}
{"id":"MONDO:0008422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant sideroblastic anemia","equivalent_identifiers":["MONDO:0008422","DOID:0060335","OMIM:182170","UMLS:C2674249","UMLS:C4225428","MESH:C567160","SNOMEDCT:1148914007","medgen:902781"],"information_content":100.0}
{"id":"MONDO:0008423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sinus node disease and myopia","equivalent_identifiers":["MONDO:0008423","OMIM:182190","UMLS:C1866960","MESH:C566690","medgen:401121"],"information_content":100.0}
{"id":"MONDO:0008424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sella turcica, bridged","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008424","OMIM:182200","UMLS:C1866959","MESH:C566689","medgen:356654","HP:0005449"],"information_content":100.0}
{"id":"MONDO:0008425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"omphalocele syndrome, Shprintzen-Goldberg type","equivalent_identifiers":["MONDO:0008425","OMIM:182210","orphanet:3164","UMLS:C1866958","MESH:C537329","SNOMEDCT:716230005","medgen:356653"],"information_content":100.0}
{"id":"MONDO:0008426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shprintzen-Goldberg syndrome","equivalent_identifiers":["MONDO:0008426","OMIM:182212","orphanet:2462","UMLS:C1321551","MESH:C537328","MEDDRA:10082234","NCIT:C124840","SNOMEDCT:719069008","medgen:231160"],"information_content":100.0}
{"id":"MONDO:0008428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"septooptic dysplasia","equivalent_identifiers":["MONDO:0008428","DOID:0060857","OMIM:182230","orphanet:3157","UMLS:C0338503","UMLS:C2750027","MESH:C567632","MESH:D025962","MEDDRA:10053146","MEDDRA:10067159","NCIT:C85063","SNOMEDCT:7611002","medgen:90926","HP:0100842"],"information_content":92.8}
{"id":"MONDO:0008429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Singleton-Merten dysplasia","equivalent_identifiers":["MONDO:0008429","OMIM.PS:182250","orphanet:85191","UMLS:C0432254","MESH:C537343","SNOMEDCT:254114000","medgen:98481","icd11.foundation:1084593684"],"information_content":92.8}
{"id":"MONDO:0008430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal dysplasia with delayed epiphyseal and carpal bone ossification","equivalent_identifiers":["MONDO:0008430","OMIM:182255","UMLS:C1866939","MESH:C566687","medgen:356650"],"information_content":100.0}
{"id":"MONDO:0008433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"small cell lung carcinoma","equivalent_identifiers":["MONDO:0008433","DOID:5409","DOID:5411","OMIM:182280","orphanet:70573","EFO:0000702","UMLS:C0149925","UMLS:CN244903","MESH:D055752","MEDDRA:10041058","MEDDRA:10041067","MEDDRA:10041071","MEDDRA:10087783","NCIT:C4917","SNOMEDCT:254632001","medgen:57450","icd11.foundation:1800431439","KEGG.DISEASE:05222","HP:0030357"],"information_content":73.2}
{"id":"MONDO:0008434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Smith-Magenis syndrome","equivalent_identifiers":["MONDO:0008434","DOID:0060768","OMIM:182290","orphanet:819","UMLS:C0795864","UMLS:C1866927","MESH:D058496","MEDDRA:10081680","NCIT:C75469","SNOMEDCT:401315004","medgen:162881","icd11.foundation:989025532"],"information_content":100.0}
{"id":"MONDO:0008436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sneddon syndrome","equivalent_identifiers":["MONDO:0008436","DOID:13096","OMIM:182410","orphanet:820","EFO:1001186","UMLS:C0282492","MESH:D018860","MEDDRA:10053841","SNOMEDCT:238776001","SNOMEDCT:716745004","medgen:76449","icd11.foundation:1474816492"],"information_content":100.0}
{"id":"MONDO:0008437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 3A","equivalent_identifiers":["MONDO:0008437","DOID:0110791","OMIM:182600","orphanet:100984","UMLS:C2931355","MESH:C536864","MEDDRA:10052491","NCIT:C142893","SNOMEDCT:782670003","medgen:419393"],"information_content":100.0}
{"id":"MONDO:0008438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 4","equivalent_identifiers":["MONDO:0008438","DOID:0110792","OMIM:182601","orphanet:100985","UMLS:C1866855","UMLS:C3711371","MESH:C536865","MESH:C580456","NCIT:C129981","SNOMEDCT:723820001","medgen:401097"],"information_content":100.0}
{"id":"MONDO:0008440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia-nephritis-deafness syndrome","equivalent_identifiers":["MONDO:0008440","OMIM:182690","orphanet:2820","UMLS:C1866853","UMLS:C2931667","MESH:C537937","MESH:C566682","SNOMEDCT:733089005","medgen:355816"],"information_content":100.0}
{"id":"MONDO:0008441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia with associated extrapyramidal signs","equivalent_identifiers":["MONDO:0008441","OMIM:182800","UMLS:C1866852","MESH:C566681","medgen:355815"],"information_content":100.0}
{"id":"MONDO:0008442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia-neuropathy-poikiloderma syndrome","equivalent_identifiers":["MONDO:0008442","OMIM:182815","orphanet:2821","UMLS:C1866851","MESH:C536870","medgen:355814"],"information_content":100.0}
{"id":"MONDO:0008443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia-precocious puberty syndrome","equivalent_identifiers":["MONDO:0008443","OMIM:182820","orphanet:2826","UMLS:C1866850","MESH:C536874","medgen:401096"],"information_content":100.0}
{"id":"MONDO:0008444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia, optic atrophy, and dementia","equivalent_identifiers":["MONDO:0008444","OMIM:182830","UMLS:C1866849","MESH:C566679","medgen:356630"],"information_content":100.0}
{"id":"MONDO:0008445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mehes syndrome","equivalent_identifiers":["MONDO:0008445","OMIM:182875","orphanet:3038","UMLS:C1866802","UMLS:C2931119","MESH:C536146","MESH:C566677","SNOMEDCT:716199000","medgen:355803"],"information_content":100.0}
{"id":"MONDO:0008447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spherocytosis type 1","equivalent_identifiers":["MONDO:0008447","DOID:0110916","OMIM:182900","UMLS:C2674218","MESH:C567159","medgen:382302"],"information_content":100.0}
{"id":"MONDO:0008449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spina bifida","equivalent_identifiers":["MONDO:0008449","DOID:0080016","EFO:0003105","UMLS:C0080178","MESH:D016135","MEDDRA:10041524","NCIT:C101214","SNOMEDCT:67531005","medgen:38283","icd11.foundation:2036217905","ICD9:741","HP:0002414"],"information_content":74.1}
{"id":"MONDO:0008450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal arachnoiditis","equivalent_identifiers":["MONDO:0008450","OMIM:182950","UMLS:C1710146","MESH:C531624","MEDDRA:10068160","NCIT:C50749","SNOMEDCT:426055002","medgen:318191","icd11.foundation:1074591848"],"information_content":100.0}
{"id":"MONDO:0008451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal dominant 1","equivalent_identifiers":["MONDO:0008451","DOID:0111200","OMIM:182960","orphanet:139518","UMLS:C1866784","MESH:C566675","NCIT:C132826","SNOMEDCT:770630005","medgen:356618"],"information_content":100.0}
{"id":"MONDO:0008452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy, facioscapulohumeral type","equivalent_identifiers":["MONDO:0008452","OMIM:182970","UMLS:C1866783","MESH:C566674","medgen:357136"],"information_content":100.0}
{"id":"MONDO:0008453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset proximal spinal muscular atrophy, autosomal dominant","equivalent_identifiers":["MONDO:0008453","DOID:0111194","OMIM:182980","orphanet:209335","UMLS:C1854058","MESH:C566673","SNOMEDCT:784391002","medgen:340120"],"information_content":100.0}
{"id":"MONDO:0008454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal intradural arachnoid cysts","equivalent_identifiers":["MONDO:0008454","OMIM:182990","UMLS:C0344485","MESH:C536878","SNOMEDCT:253164002","medgen:83372"],"information_content":100.0}
{"id":"MONDO:0008455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy, segmental","equivalent_identifiers":["MONDO:0008455","OMIM:183020","UMLS:C1866774","MESH:C566670","medgen:355801","HP:0009037"],"information_content":100.0}
{"id":"MONDO:0008456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia with rigidity and peripheral neuropathy","equivalent_identifiers":["MONDO:0008456","OMIM:183050","UMLS:C1866770","MESH:C566669","medgen:401079"],"information_content":100.0}
{"id":"MONDO:0008457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 6","equivalent_identifiers":["MONDO:0008457","DOID:0050956","OMIM:183086","orphanet:98758","UMLS:C0752124","NCIT:C142838","SNOMEDCT:715752006","medgen:148458","icd11.foundation:1056119281"],"information_content":100.0}
{"id":"MONDO:0008458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 2","equivalent_identifiers":["MONDO:0008458","DOID:0050955","DOID:0060204","OMIM:183090","orphanet:98756","UMLS:C0752121","NCIT:C148315","SNOMEDCT:715751004","medgen:155704","icd11.foundation:1232187870"],"information_content":95.4}
{"id":"MONDO:0008459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar atrophy with pupillary paralysis","equivalent_identifiers":["MONDO:0008459","OMIM:183100","UMLS:C1866746","MESH:C566668","medgen:356608"],"information_content":100.0}
{"id":"MONDO:0008460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenogonadal fusion-limb defects-micrognathia syndrome","equivalent_identifiers":["MONDO:0008460","OMIM:183300","orphanet:2063","UMLS:C1866745","MESH:C537318","SNOMEDCT:726724005","medgen:401073"],"information_content":100.0}
{"id":"MONDO:0008462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split lower lip","equivalent_identifiers":["MONDO:0008462","OMIM:183400","UMLS:C1866743","medgen:356607"],"information_content":100.0}
{"id":"MONDO:0008463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split-hand and split-foot with hypodontia","equivalent_identifiers":["MONDO:0008463","OMIM:183500","UMLS:C1866742","MESH:C566665","medgen:357125"],"information_content":100.0}
{"id":"MONDO:0008464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split hand-foot malformation 1","equivalent_identifiers":["MONDO:0008464","DOID:0090021","OMIM:183600","UMLS:C2931019","NCIT:C75045","medgen:419314","ICD10:Q71.6"],"information_content":100.0}
{"id":"MONDO:0008465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Patterson-Stevenson-Fontaine syndrome","equivalent_identifiers":["MONDO:0008465","OMIM:183700","orphanet:2439","UMLS:C5574964","MESH:C536311","SNOMEDCT:724069009","medgen:1808766"],"information_content":100.0}
{"id":"MONDO:0008466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Karsch-Neugebauer syndrome","equivalent_identifiers":["MONDO:0008466","OMIM:183800","orphanet:2329","UMLS:C1866740","MESH:C537319","MEDDRA:10084376","MEDDRA:10084379","SNOMEDCT:722032005","medgen:401072"],"information_content":100.0}
{"id":"MONDO:0008467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Czeizel-Losonci syndrome","equivalent_identifiers":["MONDO:0008467","OMIM:183802","orphanet:2437","UMLS:C1866739","MESH:C566662","SNOMEDCT:732927000","medgen:401071"],"information_content":100.0}
{"id":"MONDO:0008468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloarthropathy, susceptibility to, 2","equivalent_identifiers":["MONDO:0008468","DOID:0080604","OMIM:183840","UMLS:C1866738","medgen:355791"],"information_content":100.0}
{"id":"MONDO:0008471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia congenita","equivalent_identifiers":["MONDO:0008471","DOID:14789","OMIM:183900","orphanet:94068","UMLS:C2745959","MESH:C535788","MEDDRA:10062920","MEDDRA:10074799","SNOMEDCT:278713008","medgen:412530"],"information_content":100.0}
{"id":"MONDO:0008473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Maroteaux type","equivalent_identifiers":["MONDO:0008473","DOID:0111553","OMIM:184095","orphanet:263482","UMLS:C3159322","SNOMEDCT:719204007","medgen:463613"],"information_content":100.0}
{"id":"MONDO:0008474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia tarda, autosomal dominant","equivalent_identifiers":["MONDO:0008474","DOID:0112285","OMIM:184100","UMLS:C1866717","MESH:C566658","medgen:355785"],"information_content":100.0}
{"id":"MONDO:0008475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylolisthesis","equivalent_identifiers":["MONDO:0008475","DOID:6682","OMIM:184200","EFO:0007493","UMLS:C0038016","MESH:D013168","MEDDRA:10049007","MEDDRA:10063550","NCIT:C35033","SNOMEDCT:274152003","medgen:52470","icd11.foundation:1075039772","ICD10:M43.1","HP:0003302"],"information_content":95.4}
{"id":"MONDO:0008476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Strudwick type","equivalent_identifiers":["MONDO:0008476","DOID:0080028","OMIM:184250","orphanet:93346","UMLS:C0700635","MESH:C537501","SNOMEDCT:702350003","medgen:147134","HP:0002657"],"information_content":100.0}
{"id":"MONDO:0008477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia, Kozlowski type","equivalent_identifiers":["MONDO:0008477","DOID:0111554","OMIM:184252","orphanet:93314","UMLS:C0265280","MESH:C535797","SNOMEDCT:111304003","medgen:82698","icd11.foundation:360868302"],"information_content":100.0}
{"id":"MONDO:0008478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia, Schmidt type","equivalent_identifiers":["MONDO:0008478","DOID:0112296","OMIM:184253","orphanet:93316","UMLS:C1866688","MESH:C535794","SNOMEDCT:719304005","medgen:356595","icd11.foundation:1092012084"],"information_content":100.0}
{"id":"MONDO:0008479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia, 'corner fracture' type","equivalent_identifiers":["MONDO:0008479","DOID:0112297","OMIM:184255","orphanet:93315","UMLS:C0432221","MESH:C535793","SNOMEDCT:254078005","medgen:98146","icd11.foundation:1295452752"],"information_content":100.0}
{"id":"MONDO:0008481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neck Arthritis","equivalent_identifiers":["MONDO:0008481","OMIM:184300","EFO:0009610","UMLS:C0263854","UMLS:C1384641","MEDDRA:10003265","MEDDRA:10008314","MEDDRA:10008315","NCIT:C27041","SNOMEDCT:387800004","SNOMEDCT:387801000","medgen:235174","HP:0008480"],"information_content":100.0}
{"id":"MONDO:0008482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sprengel deformity","equivalent_identifiers":["MONDO:0008482","OMIM:184400","orphanet:3181","UMLS:C0152438","MESH:C535802","MEDDRA:10010455","MEDDRA:10088159","SNOMEDCT:79120002","medgen:56291","icd11.foundation:2144522441","HP:0000912"],"information_content":100.0}
{"id":"MONDO:0008483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stuttering, familial persistent, 1","equivalent_identifiers":["MONDO:0008483","OMIM:184450","UMLS:C3489627","medgen:483580"],"information_content":100.0}
{"id":"MONDO:0008484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stapes ankylosis with broad thumbs and toes","equivalent_identifiers":["MONDO:0008484","OMIM:184460","orphanet:140917","UMLS:C1866656","SNOMEDCT:719305006","medgen:357104","icd11.foundation:387089262"],"information_content":100.0}
{"id":"MONDO:0008485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sebocystomatosis","equivalent_identifiers":["MONDO:0008485","DOID:0111556","OMIM:184500","orphanet:841","UMLS:C0259771","MESH:D062685","MEDDRA:10048905","SNOMEDCT:109433009","medgen:75476","HP:0012035"],"information_content":100.0}
{"id":"MONDO:0008486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"steatocystoma multiplex-natal teeth syndrome","equivalent_identifiers":["MONDO:0008486","OMIM:184510","orphanet:3184","UMLS:C1866650","MESH:C537487","medgen:356586"],"information_content":100.0}
{"id":"MONDO:0008487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Androgen excess","equivalent_identifiers":["MONDO:0008487","DOID:11612","DOID:11613","OMIM:184700","EFO:0000660","EFO:0009006","UMLS:C0032460","UMLS:C0206081","UMLS:C0235461","UMLS:C1136382","UMLS:C1295651","MESH:D011085","MESH:D017588","MEDDRA:10036049","MEDDRA:10036050","MEDDRA:10041971","MEDDRA:10065161","MEDDRA:10065597","MEDDRA:10073188","MEDDRA:10073199","NCIT:C113215","NCIT:C26862","SNOMEDCT:131074001","SNOMEDCT:237055002","SNOMEDCT:237793004","SNOMEDCT:69878008","SNOMEDCT:781067001","medgen:10836","icd11.foundation:1213633323","ICD10:E28.2","ICD9:256.4","HP:0000147"],"information_content":90.9}
{"id":"MONDO:0008488","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly-radial heart renal anomalies syndrome","equivalent_identifiers":["MONDO:0008488","OMIM:184705","orphanet:3186","UMLS:C1866649","MESH:C566655","SNOMEDCT:716233007","medgen:401047"],"information_content":100.0}
{"id":"MONDO:0008490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otospondylomegaepiphyseal dysplasia, autosomal dominant","equivalent_identifiers":["MONDO:0008490","DOID:0080677","DOID:4258","OMIM:184840","orphanet:166100","UMLS:C1848488","UMLS:C1861481","MESH:C535776","MESH:C537494","MEDDRA:10084415","MEDDRA:10084425","SNOMEDCT:699313003","SNOMEDCT:783097004","medgen:341234"],"information_content":100.0}
{"id":"MONDO:0008491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stiff-person syndrome","equivalent_identifiers":["MONDO:0008491","DOID:13366","OMIM:184850","orphanet:3198","EFO:0007498","UMLS:C0085292","MESH:D016750","MEDDRA:10042044","MEDDRA:10072148","MEDDRA:10080172","NCIT:C85170","SNOMEDCT:5217008","medgen:39017","ICD10:G25.82","ICD9:333.91"],"information_content":90.9}
{"id":"MONDO:0008492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stiff skin syndrome","equivalent_identifiers":["MONDO:0008492","DOID:0111561","OMIM:184900","orphanet:2833","UMLS:C1861456","MESH:C566112","MEDDRA:10085085","NCIT:C118636","SNOMEDCT:765187004","medgen:348877","icd11.foundation:642409035"],"information_content":95.4}
{"id":"MONDO:0008493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"overhydrated hereditary stomatocytosis","equivalent_identifiers":["MONDO:0008493","DOID:0111562","OMIM:185000","orphanet:3203","UMLS:C1861455","MESH:C566111","SNOMEDCT:722125003","medgen:348876","icd11.foundation:595647587"],"information_content":100.0}
{"id":"MONDO:0008494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryohydrocytosis","equivalent_identifiers":["MONDO:0008494","OMIM:185020","orphanet:398088","UMLS:C1861453","MESH:C535827","medgen:396137"],"information_content":100.0}
{"id":"MONDO:0008495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet storage pool deficiency","equivalent_identifiers":["MONDO:0008495","DOID:2223","OMIM:185050","orphanet:734","EFO:1001112","UMLS:C0032197","MESH:D010981","MEDDRA:10084190","SNOMEDCT:128099001","SNOMEDCT:234474009","SNOMEDCT:9417000","medgen:19351"],"information_content":100.0}
{"id":"MONDO:0008497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stormorken syndrome","equivalent_identifiers":["MONDO:0008497","DOID:0060354","OMIM:185070","orphanet:3204","UMLS:C1861451","MESH:C566108","SNOMEDCT:711407000","medgen:350028"],"information_content":100.0}
{"id":"MONDO:0008498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"strabismus, susceptibility to","equivalent_identifiers":["MONDO:0008498","OMIM:185100","UMLS:C1861449","medgen:350026"],"information_content":95.4}
{"id":"MONDO:0008499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-wormian bones-dextrocardia syndrome","equivalent_identifiers":["MONDO:0008499","OMIM:185120","orphanet:2863","UMLS:C1861448","MESH:C566105","SNOMEDCT:763631006","medgen:350025"],"information_content":100.0}
{"id":"MONDO:0008500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"striae distensae, familial","equivalent_identifiers":["MONDO:0008500","OMIM:185200","UMLS:C1861447","MESH:C566104","medgen:348875"],"information_content":100.0}
{"id":"MONDO:0008501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sturge-Weber syndrome","equivalent_identifiers":["MONDO:0008501","DOID:0111563","DOID:3852","OMIM:175200","OMIM:185300","orphanet:3205","UMLS:C0031269","UMLS:C0038505","UMLS:C0265323","MESH:D010580","MESH:D013341","MEDDRA:10034764","MEDDRA:10042265","MEDDRA:10057349","MEDDRA:10057653","MEDDRA:10057661","NCIT:C3324","NCIT:C3391","NCIT:C7755","SNOMEDCT:19886006","SNOMEDCT:53633000","SNOMEDCT:54411001","medgen:21361","icd11.foundation:1173035836","ICD10:Q85.89"],"information_content":82.6}
{"id":"MONDO:0008502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sulfhemoglobinemia, congenital","equivalent_identifiers":["MONDO:0008502","OMIM:185460","UMLS:C1861437","MESH:C566102","medgen:350024"],"information_content":100.0}
{"id":"MONDO:0008503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Worster-Drought syndrome","equivalent_identifiers":["MONDO:0008503","OMIM:185480","orphanet:3465","UMLS:C0796204","MESH:C536747","SNOMEDCT:716335003","medgen:163228","icd11.foundation:1834138618"],"information_content":100.0}
{"id":"MONDO:0008504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"supravalvular aortic stenosis","equivalent_identifiers":["MONDO:0008504","DOID:1929","OMIM:185500","orphanet:3193","UMLS:C0003499","UMLS:C2936909","MESH:C538461","MESH:D021921","MEDDRA:10042598","NCIT:C85176","SNOMEDCT:268185002","medgen:2001","icd11.foundation:1066595728","ICD10:Q25.3","HP:0004381"],"information_content":95.4}
{"id":"MONDO:0008506","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symphalangism of toes","equivalent_identifiers":["MONDO:0008506","OMIM:185600","UMLS:C1861418","MESH:C566101","medgen:396129"],"information_content":100.0}
{"id":"MONDO:0008508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symphalangism, C. S. Lewis type","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008508","OMIM:185650","UMLS:C1861404","MESH:C566100","medgen:396126"],"information_content":100.0}
{"id":"MONDO:0008509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal symphalangism","equivalent_identifiers":["MONDO:0008509","OMIM:185700","orphanet:3248","UMLS:C1861401","MESH:C566099","medgen:350018","icd11.foundation:1737945585","HP:0100263"],"information_content":83.1}
{"id":"MONDO:0008510","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symphalangism with multiple anomalies of hands and feet","equivalent_identifiers":["MONDO:0008510","OMIM:185750","orphanet:3246","UMLS:C1861391","MESH:C566098","SNOMEDCT:732955001","medgen:348859"],"information_content":100.0}
{"id":"MONDO:0008511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proximal symphalangism","equivalent_identifiers":["MONDO:0008511","DOID:0050788","OMIM.PS:185800","orphanet:3250","UMLS:C1861385","MESH:C536223","SNOMEDCT:1162837001","medgen:348856","icd11.foundation:49802338","KEGG.DISEASE:H00484","HP:0100264"],"information_content":83.1}
{"id":"MONDO:0008512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndactyly type 1","equivalent_identifiers":["MONDO:0008512","DOID:0111816","OMIM:185900","orphanet:93402","UMLS:C1861380","MESH:C566096","MEDDRA:10086571","SNOMEDCT:715723008","medgen:348343","icd11.foundation:1841508645"],"information_content":89.4}
{"id":"MONDO:0008513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synpolydactyly type 1","equivalent_identifiers":["MONDO:0008513","OMIM:186000","orphanet:295195","UMLS:C5574994","NCIT:C75005","medgen:1809573","icd11.foundation:1701170393"],"information_content":100.0}
{"id":"MONDO:0008514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndactyly type 3","equivalent_identifiers":["MONDO:0008514","DOID:0111817","OMIM:186100","orphanet:93404","UMLS:C1861366","MESH:C538154","SNOMEDCT:715725001","medgen:396117","icd11.foundation:144846004"],"information_content":100.0}
{"id":"MONDO:0008515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndactyly type 4","equivalent_identifiers":["MONDO:0008515","DOID:0111818","OMIM:186200","orphanet:93405","UMLS:C1861355","MESH:C566092","SNOMEDCT:719158007","medgen:350013","icd11.foundation:75755208"],"information_content":100.0}
{"id":"MONDO:0008516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndactyly type 5","equivalent_identifiers":["MONDO:0008516","DOID:0111819","OMIM:186300","orphanet:93406","UMLS:C1861348","MESH:C538155","SNOMEDCT:719159004","medgen:350010","icd11.foundation:283224140"],"information_content":100.0}
{"id":"MONDO:0008517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndactyly-polydactyly-ear lobe syndrome","equivalent_identifiers":["MONDO:0008517","OMIM:186350","orphanet:3259","UMLS:C1861347","MESH:C566091","medgen:348333"],"information_content":100.0}
{"id":"MONDO:0008518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"calcaneonavicular coalition","equivalent_identifiers":["MONDO:0008518","DOID:14762","OMIM:186400","UMLS:C1876184","MESH:C538156","SNOMEDCT:62628008","medgen:360296"],"information_content":100.0}
{"id":"MONDO:0008519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple synostoses syndrome 1","equivalent_identifiers":["MONDO:0008519","DOID:0081317","OMIM:186500","UMLS:C0342282","UMLS:C4551826","medgen:90977"],"information_content":100.0}
{"id":"MONDO:0008520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly-elbow wrist dysplasia syndrome","equivalent_identifiers":["MONDO:0008520","OMIM:186550","orphanet:1275","UMLS:C1861313","MESH:C566090","SNOMEDCT:764437006","medgen:396103"],"information_content":100.0}
{"id":"MONDO:0008521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tarsal-carpal coalition syndrome","equivalent_identifiers":["MONDO:0008521","DOID:0050789","OMIM:186570","orphanet:1412","UMLS:C1861305","UMLS:C1861306","MESH:C536943","MESH:C566089","SNOMEDCT:702312009","medgen:348322","icd11.foundation:1118132902"],"information_content":100.0}
{"id":"MONDO:0008522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synovial chondromatosis, familial, with dwarfism","equivalent_identifiers":["MONDO:0008522","OMIM:186575","UMLS:C1861304","MESH:C566087","medgen:348836"],"information_content":100.0}
{"id":"MONDO:0008523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Blau syndrome","equivalent_identifiers":["MONDO:0008523","DOID:0050678","OMIM:186580","orphanet:90340","UMLS:C1836122","UMLS:C1861303","UMLS:C5201146","MESH:C538157","MEDDRA:10071755","NCIT:C116794","SNOMEDCT:699861000","SNOMEDCT:726078000","SNOMEDCT:818950005","medgen:1684759","icd11.foundation:382488319"],"information_content":100.0}
{"id":"MONDO:0008524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syringomas, multiple","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008524","OMIM:186600","UMLS:C1861302","MESH:C566085","medgen:348321"],"information_content":100.0}
{"id":"MONDO:0008525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syringomyelia, isolated","equivalent_identifiers":["MONDO:0008525","OMIM:186700","UMLS:C1861301","UMLS:C4538540","MESH:C566084","medgen:1622554"],"information_content":100.0}
{"id":"MONDO:0008526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"talonavicular coalition","equivalent_identifiers":["MONDO:0008526","OMIM:186750","UMLS:C1861296","MESH:C536895","medgen:350002"],"information_content":100.0}
{"id":"MONDO:0008527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tarsal coalition","equivalent_identifiers":["MONDO:0008527","OMIM:186850","UMLS:C0265654","MESH:D000070604","MEDDRA:10065407","SNOMEDCT:27173008","medgen:539393","HP:0008368"],"information_content":87.2}
{"id":"MONDO:0008530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lobodontia","equivalent_identifiers":["MONDO:0008530","OMIM:187000","UMLS:C1861274","UMLS:C1861275","UMLS:C1861276","MESH:C566076","medgen:396097"],"information_content":100.0}
{"id":"MONDO:0008532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Natal Teeth","equivalent_identifiers":["MONDO:0008532","OMIM:187050","UMLS:C0027443","MESH:D009306","MEDDRA:10064164","SNOMEDCT:1162501001","SNOMEDCT:21995002","SNOMEDCT:58748004","medgen:10268","HP:0000695"],"information_content":100.0}
{"id":"MONDO:0008533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"teeth, supernumerary","equivalent_identifiers":["MONDO:0008533","OMIM:187100","UMLS:C0040457","UMLS:C5441989","MESH:D014096","MEDDRA:10042572","MEDDRA:10086332","SNOMEDCT:196273001","SNOMEDCT:367534004","SNOMEDCT:8666004","medgen:21210","HP:0011069"],"information_content":88.2}
{"id":"MONDO:0008534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized essential telangiectasia","equivalent_identifiers":["MONDO:0008534","OMIM:187260","orphanet:280774","UMLS:C0406502","UMLS:C0473555","MESH:C562908","MESH:C562998","SNOMEDCT:238763007","SNOMEDCT:238764001","medgen:140803","icd11.foundation:236046211"],"information_content":100.0}
{"id":"MONDO:0008535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"telangiectasia, hereditary hemorrhagic, type 1","equivalent_identifiers":["MONDO:0008535","OMIM:187300","UMLS:C4551861","medgen:1643786"],"information_content":100.0}
{"id":"MONDO:0008537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"telecanthus","equivalent_identifiers":["MONDO:0008537","OMIM:187350","orphanet:98575","UMLS:C0423113","MESH:C562941","SNOMEDCT:246803005","medgen:140836","icd11.foundation:210416501","HP:0000506"],"information_content":85.5}
{"id":"MONDO:0008538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"temporal arteritis","equivalent_identifiers":["MONDO:0008538","DOID:13375","OMIM:187360","orphanet:397","EFO:1001209","UMLS:C0039483","UMLS:C1956390","UMLS:C1956391","MESH:D013700","MEDDRA:10011303","MEDDRA:10018250","MEDDRA:10020395","MEDDRA:10020396","MEDDRA:10043207","NCIT:C35065","SNOMEDCT:400130008","SNOMEDCT:414341000","medgen:365495","icd11.foundation:1929970386","ICD9:446.5"],"information_content":95.4}
{"id":"MONDO:0008540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extensor tendons of finger anomalies","equivalent_identifiers":["MONDO:0008540","OMIM:187390","orphanet:3294","UMLS:C1861237","MESH:C566068","medgen:348302"],"information_content":100.0}
{"id":"MONDO:0008541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatic cord torsion","equivalent_identifiers":["MONDO:0008541","DOID:11996","OMIM:187400","UMLS:C0037856","MESH:D013086","MEDDRA:10043356","MEDDRA:10043363","MEDDRA:10044071","MEDDRA:10044073","MEDDRA:10076655","NCIT:C26885","SNOMEDCT:49198006","SNOMEDCT:81996005","medgen:52446","ICD10:N44.02","ICD9:608.2","HP:0100813"],"information_content":100.0}
{"id":"MONDO:0008542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetralogy of fallot","equivalent_identifiers":["MONDO:0008542","DOID:6419","OMIM:187500","orphanet:3303","UMLS:C0039685","MESH:D013771","MEDDRA:10016191","MEDDRA:10016192","MEDDRA:10016193","MEDDRA:10043384","NCIT:C84505","SNOMEDCT:86299006","medgen:21498","icd11.foundation:90973426","ICD10:Q21.3","ICD9:745.2","HP:0001636"],"information_content":87.2}
{"id":"MONDO:0008543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetralogy of fallot and glaucoma","equivalent_identifiers":["MONDO:0008543","OMIM:187501","UMLS:C1861234","MESH:C536501","medgen:396086"],"information_content":100.0}
{"id":"MONDO:0008544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetramelic monodactyly","equivalent_identifiers":["MONDO:0008544","OMIM:187510","orphanet:2564","UMLS:C1861233","MESH:C566066","SNOMEDCT:770945001","medgen:349989"],"information_content":100.0}
{"id":"MONDO:0008545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thalassemia, beta+, silent allele","equivalent_identifiers":["MONDO:0008545","OMIM:187550","UMLS:C1861232","MESH:C566065","medgen:349988"],"information_content":100.0}
{"id":"MONDO:0008546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thanatophoric dysplasia type 1","equivalent_identifiers":["MONDO:0008546","OMIM:187600","orphanet:1860","UMLS:C1868678","MESH:C566844","NCIT:C98583","SNOMEDCT:389157002","medgen:358383"],"information_content":100.0}
{"id":"MONDO:0008547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thanatophoric dysplasia type 2","equivalent_identifiers":["MONDO:0008547","OMIM:187601","orphanet:93274","UMLS:C1300257","MESH:C536508","NCIT:C98584","SNOMEDCT:389158007","medgen:226975"],"information_content":95.4}
{"id":"MONDO:0008549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thoracic dysostosis, isolated","equivalent_identifiers":["MONDO:0008549","OMIM:187750","UMLS:C1861204","MESH:C566063","medgen:396080"],"information_content":100.0}
{"id":"MONDO:0008551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thoracolaryngopelvic dysplasia","equivalent_identifiers":["MONDO:0008551","OMIM:187760","OMIM:187770","orphanet:3317","UMLS:C1861196","UMLS:C1861197","MESH:C536517","MESH:C566062","SNOMEDCT:723556008","medgen:349978","icd11.foundation:337990406"],"information_content":100.0}
{"id":"MONDO:0008552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 16","equivalent_identifiers":["MONDO:0008552","DOID:0060691","OMIM:187800","UMLS:C1861195","UMLS:C5442010","MESH:C566061","medgen:1781222"],"information_content":100.0}
{"id":"MONDO:0008553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 17","equivalent_identifiers":["MONDO:0008553","DOID:0111049","OMIM:187900","UMLS:C1861194","MESH:C566060","NCIT:C142084","medgen:396078"],"information_content":100.0}
{"id":"MONDO:0008554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocythemia 1","equivalent_identifiers":["MONDO:0008554","OMIM:187950","UMLS:C3277671","medgen:479301"],"information_content":100.0}
{"id":"MONDO:0008555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 2","equivalent_identifiers":["MONDO:0008555","OMIM:188000","UMLS:C1861185","MESH:C536519","NCIT:C129035","medgen:349976"],"information_content":95.4}
{"id":"MONDO:0008557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paris-Trousseau thrombocytopenia","equivalent_identifiers":["MONDO:0008557","OMIM:188025","orphanet:851","UMLS:C1956093","medgen:365037","icd11.foundation:1441183910"],"information_content":100.0}
{"id":"MONDO:0008558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune thrombocytopenic purpura","equivalent_identifiers":["MONDO:0008558","DOID:8924","OMIM:188030","orphanet:3002","EFO:0007160","UMLS:C0398650","MESH:D016553","MEDDRA:10021243","MEDDRA:10021245","MEDDRA:10051064","MEDDRA:10074667","MEDDRA:10083843","NCIT:C3446","medgen:584986","icd11.foundation:364346400","ICD10:D69.3","ICD9:287.31"],"information_content":100.0}
{"id":"MONDO:0008559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia due to thrombin defect","equivalent_identifiers":["MONDO:0008559","DOID:0080701","DOID:0111907","OMIM:188050","UMLS:C0042487","UMLS:C3160733","MESH:D020246","MEDDRA:10034904","MEDDRA:10043640","MEDDRA:10047249","MEDDRA:10047253","NCIT:C99107","SNOMEDCT:111293003","medgen:463623","HP:0004936"],"information_content":81.7}
{"id":"MONDO:0008560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia due to activated protein C resistance","equivalent_identifiers":["MONDO:0008560","DOID:0111902","OMIM:188055","UMLS:C0600433","UMLS:C1861171","UMLS:C5848173","MESH:C566056","MESH:D020016","MEDDRA:10056867","MEDDRA:10077457","SNOMEDCT:421527008","medgen:396074","HP:0012175"],"information_content":100.0}
{"id":"MONDO:0008561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thumb deformity","equivalent_identifiers":["MONDO:0008561","OMIM:188100","UMLS:C0575897","MESH:C536903","SNOMEDCT:299130003","medgen:107901","HP:0001172"],"information_content":68.0}
{"id":"MONDO:0008562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thumb deformity-alopecia-pigmentation anomaly syndrome","equivalent_identifiers":["MONDO:0008562","OMIM:188150","orphanet:2251","UMLS:C1861168","MESH:C566054","SNOMEDCT:771182002","medgen:348284"],"information_content":100.0}
{"id":"MONDO:0008563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thumb stiffness-brachydactyly-intellectual disability syndrome","equivalent_identifiers":["MONDO:0008563","OMIM:188201","orphanet:1078","UMLS:C1861166","MESH:C566053","medgen:396073"],"information_content":100.0}
{"id":"MONDO:0008566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid cancer, nonmedullary, 2","equivalent_identifiers":["MONDO:0008566","OMIM:188470","UMLS:C2931367","UMLS:C4225426","MESH:C572845","MEDDRA:10016935","medgen:904175"],"information_content":100.0}
{"id":"MONDO:0008567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid cancer, nonmedullary, 1","equivalent_identifiers":["MONDO:0008567","OMIM:188550","UMLS:C3501844","UMLS:C4721429","medgen:1648293"],"information_content":100.0}
{"id":"MONDO:0008568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid hormone plasma membrane transport defect","equivalent_identifiers":["MONDO:0008568","OMIM:188560","UMLS:C1861101","MESH:C536916","medgen:396060"],"information_content":100.0}
{"id":"MONDO:0008569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid hormone resistance, generalized, autosomal dominant","equivalent_identifiers":["MONDO:0008569","OMIM:188570","UMLS:C2937288","MESH:C567934","medgen:424846"],"information_content":100.0}
{"id":"MONDO:0008570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyrotoxic periodic paralysis, susceptibility to, 1","equivalent_identifiers":["MONDO:0008570","OMIM:188580","UMLS:C2749982","medgen:413199"],"information_content":100.0}
{"id":"MONDO:0008571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Blount disease, infantile","equivalent_identifiers":["MONDO:0008571","OMIM:188700","UMLS:C0220757","SNOMEDCT:880067009","medgen:65091"],"information_content":100.0}
{"id":"MONDO:0008572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tibia, hypoplasia or aplasia of, with polydactyly","equivalent_identifiers":["MONDO:0008572","DOID:0111564","OMIM:188740","orphanet:988","UMLS:C1861098","UMLS:C1861099","UMLS:C4274307","MESH:C535564","MESH:C566046","SNOMEDCT:716741008","medgen:348786"],"information_content":100.0}
{"id":"MONDO:0008573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tibial torsion, bilateral medial","equivalent_identifiers":["MONDO:0008573","OMIM:188800","UMLS:C1861097","MESH:C566045","medgen:348785"],"information_content":100.0}
{"id":"MONDO:0008576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toe, fifth, number of phalanges 1N","equivalent_identifiers":["MONDO:0008576","OMIM:189000","UMLS:C1861062","medgen:348255"],"information_content":100.0}
{"id":"MONDO:0008577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toe, misshapen","equivalent_identifiers":["MONDO:0008577","OMIM:189100","UMLS:C1861061","medgen:396052"],"information_content":100.0}
{"id":"MONDO:0008578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toe, rotated fifth","equivalent_identifiers":["MONDO:0008578","OMIM:189150","UMLS:C1861060","medgen:348254"],"information_content":100.0}
{"id":"MONDO:0008579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toes, relative length of first and second","equivalent_identifiers":["MONDO:0008579","OMIM:189200","UMLS:C1861059","medgen:396051"],"information_content":100.0}
{"id":"MONDO:0008580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toes, space between first and second","equivalent_identifiers":["MONDO:0008580","OMIM:189230","UMLS:C1861058","medgen:348253"],"information_content":100.0}
{"id":"MONDO:0008581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malposition of teeth with or without hypodontia/oligodontia","equivalent_identifiers":["MONDO:0008581","OMIM:189490","UMLS:C2752157","medgen:442888"],"information_content":100.0}
{"id":"MONDO:0008582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Witkop syndrome","equivalent_identifiers":["MONDO:0008582","DOID:6678","OMIM:189500","orphanet:2228","UMLS:C0406735","MESH:C536736","NCIT:C40553","SNOMEDCT:400036004","medgen:140809"],"information_content":92.8}
{"id":"MONDO:0008583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited torticollis","equivalent_identifiers":["MONDO:0008583","OMIM:189600","UMLS:C0079352","UMLS:C0549175","MESH:C535425","MEDDRA:10010650","MEDDRA:10083212","MEDDRA:10083213","MEDDRA:10083214","NCIT:C4811","SNOMEDCT:1290967008","SNOMEDCT:238865006","SNOMEDCT:268240006","SNOMEDCT:70070008","medgen:11859","HP:0005988"],"information_content":100.0}
{"id":"MONDO:0008585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HELLP syndrome","equivalent_identifiers":["MONDO:0008585","DOID:13133","orphanet:244242","EFO:0007297","UMLS:C0162739","MESH:D017359","MEDDRA:10049058","NCIT:C84750","SNOMEDCT:95605009","medgen:58162","icd11.foundation:1748922908","ICD10:O14.2"],"information_content":100.0}
{"id":"MONDO:0008586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal atresia/tracheoesophageal fistula","equivalent_identifiers":["MONDO:0008586","DOID:0080171","OMIM:189960","orphanet:1199","UMLS:C0040588","UMLS:C1861028","UMLS:C4732737","MESH:C531835","MESH:D014138","MEDDRA:10044310","MEDDRA:10044311","MEDDRA:10044317","MEDDRA:10072784","SNOMEDCT:95435007","medgen:21228","icd11.foundation:1582061097","HP:0002575"],"information_content":95.4}
{"id":"MONDO:0008587","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tracheobronchopathia osteochondroplastica","equivalent_identifiers":["MONDO:0008587","OMIM:189961","orphanet:3348","UMLS:C0520538","UMLS:C3887588","MESH:C536977","MEDDRA:10044319","SNOMEDCT:37615000","SNOMEDCT:54675009","medgen:854438","icd11.foundation:1797446244"],"information_content":100.0}
{"id":"MONDO:0008588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GENIOSPASM 1","equivalent_identifiers":["MONDO:0008588","OMIM:190100","orphanet:53372","UMLS:C1860972","UMLS:C2931589","MESH:C537682","MEDDRA:10086622","SNOMEDCT:718103001","medgen:348757","HP:0012462"],"information_content":100.0}
{"id":"MONDO:0008589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tremor of intention, ataxia, and lipofuscinosis","equivalent_identifiers":["MONDO:0008589","OMIM:190200","UMLS:C1860872","MESH:C566038","medgen:396002"],"information_content":100.0}
{"id":"MONDO:0008590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tremor, hereditary essential, 1","equivalent_identifiers":["MONDO:0008590","DOID:0111428","OMIM:190300","UMLS:C1860861","MESH:C536545","medgen:349909"],"information_content":100.0}
{"id":"MONDO:0008591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tremor-nystagmus-duodenal ulcer syndrome","equivalent_identifiers":["MONDO:0008591","OMIM:190310","orphanet:3350","UMLS:C1860860","MESH:C536406","SNOMEDCT:782935003","medgen:349908"],"information_content":100.0}
{"id":"MONDO:0008592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tricho-dento-osseous syndrome","equivalent_identifiers":["MONDO:0008592","DOID:0111565","OMIM:190320","orphanet:3352","UMLS:C0265333","MESH:C536549","SNOMEDCT:38993008","medgen:78555","icd11.foundation:131993435"],"information_content":100.0}
{"id":"MONDO:0008593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichomegaly","equivalent_identifiers":["MONDO:0008593","OMIM:190330","UMLS:C0854699","MEDDRA:10044613","medgen:163139"],"information_content":95.4}
{"id":"MONDO:0008594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial multiple discoid fibromas","equivalent_identifiers":["MONDO:0008594","OMIM:190340","orphanet:538756","UMLS:C1860850","MESH:C536847","SNOMEDCT:1222705009","medgen:348201"],"information_content":100.0}
{"id":"MONDO:0008596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichorhinophalangeal syndrome type I","equivalent_identifiers":["MONDO:0008596","DOID:0080376","DOID:14743","OMIM:190350","UMLS:C0432233","MESH:C536820","NCIT:C75109","SNOMEDCT:254091006","medgen:140929"],"information_content":92.8}
{"id":"MONDO:0008598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichodysplasia-xeroderma syndrome","equivalent_identifiers":["MONDO:0008598","OMIM:190360","orphanet:3361","UMLS:C1860822","MESH:C566032","medgen:349898"],"information_content":100.0}
{"id":"MONDO:0008599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trigeminal neuralgia","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008599","DOID:12098","OMIM:190400","orphanet:221091","EFO:1001219","UMLS:C0040997","MESH:D014277","MEDDRA:10029227","MEDDRA:10043837","MEDDRA:10044652","SNOMEDCT:31681005","medgen:21683","icd11.foundation:1803581281","ICD10:G50.0","ICD9:350.1","HP:0100661"],"information_content":100.0}
{"id":"MONDO:0008600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trigger thumb","equivalent_identifiers":["MONDO:0008600","OMIM:190410","EFO:0010822","UMLS:C0158328","UMLS:C0410060","UMLS:C4022974","MESH:D052582","MEDDRA:10044654","MEDDRA:10044656","NCIT:C85203","SNOMEDCT:42786005","medgen:98044","HP:0012276"],"information_content":100.0}
{"id":"MONDO:0008601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triglyceride storage disease, type 1","equivalent_identifiers":["MONDO:0008601","OMIM:190420","UMLS:C1860821","MESH:C566031","medgen:349897"],"information_content":100.0}
{"id":"MONDO:0008602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triglyceride storage disease, type 2","equivalent_identifiers":["MONDO:0008602","OMIM:190430","UMLS:C1860820","MESH:C566030","medgen:349896"],"information_content":100.0}
{"id":"MONDO:0008603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trigonocephaly 1","equivalent_identifiers":["MONDO:0008603","OMIM:190440","EFO:0008511","UMLS:C0432122","UMLS:C1860819","MESH:C562951","SNOMEDCT:109409003","medgen:98473","HP:0011330"],"information_content":100.0}
{"id":"MONDO:0008604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triphalangeal thumb with double phalanges","equivalent_identifiers":["MONDO:0008604","OMIM:190500","UMLS:C1860807","MESH:C566028","medgen:395985"],"information_content":100.0}
{"id":"MONDO:0008605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triphalangeal thumb, Nonopposable","equivalent_identifiers":["MONDO:0008605","OMIM:190600","UMLS:C2931238","MESH:C536562","medgen:444008","HP:0005725"],"information_content":100.0}
{"id":"MONDO:0008606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Say-field-Coldwell syndrome","equivalent_identifiers":["MONDO:0008606","OMIM:190650","UMLS:C1860805","MESH:C536619","SNOMEDCT:733456002","medgen:348711"],"information_content":100.0}
{"id":"MONDO:0008607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triphalangeal thumbs-brachyectrodactyly syndrome","equivalent_identifiers":["MONDO:0008607","OMIM:190680","orphanet:2947","UMLS:C1860804","MESH:C536564","SNOMEDCT:719951002","medgen:348710"],"information_content":100.0}
{"id":"MONDO:0008608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Down syndrome","equivalent_identifiers":["MONDO:0008608","DOID:14250","OMIM:190685","orphanet:870","EFO:0001064","UMLS:C0013080","UMLS:C1860786","UMLS:C1860787","MESH:C566023","MESH:D004314","MEDDRA:10013616","MEDDRA:10027816","MEDDRA:10042801","MEDDRA:10044688","NCIT:C2993","SNOMEDCT:41040004","SNOMEDCT:737542000","medgen:4385","icd11.foundation:1624623908","ICD10:Q90","ICD9:758.0"],"information_content":83.6}
{"id":"MONDO:0008609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tristichiasis","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008609","OMIM:190800","UMLS:C1860785","medgen:349889","HP:0008009"],"information_content":100.0}
{"id":"MONDO:0008610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tritanomaly","equivalent_identifiers":["MONDO:0008610","DOID:11661","OMIM:190900","orphanet:88629","UMLS:C0155017","UMLS:C1970167","MEDDRA:10044690","MEDDRA:10086328","MEDDRA:10086329","SNOMEDCT:51886007","SNOMEDCT:85049009","medgen:57827","ICD10:H53.55","ICD9:368.53","HP:0000552"],"information_content":100.0}
{"id":"MONDO:0008611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"humerus trochlea aplasia","equivalent_identifiers":["MONDO:0008611","OMIM:191000","orphanet:3383","UMLS:C1860773","MESH:C566022","SNOMEDCT:732928005","medgen:348185"],"information_content":100.0}
{"id":"MONDO:0008613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tuftsin deficiency","equivalent_identifiers":["MONDO:0008613","OMIM:191150","UMLS:C0398741","MESH:C562872","SNOMEDCT:234584007","medgen:98311"],"information_content":100.0}
{"id":"MONDO:0008615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tune deafness","equivalent_identifiers":["MONDO:0008615","OMIM:191200","UMLS:C0271511","UMLS:C1860646","MESH:C566019","MEDDRA:10051520","SNOMEDCT:55647004","medgen:349862"],"information_content":100.0}
{"id":"MONDO:0008617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 11","equivalent_identifiers":["MONDO:0008617","DOID:0110894","OMIM:191390","UMLS:C2674051","MESH:C567154","medgen:393069"],"information_content":100.0}
{"id":"MONDO:0008618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesomelic dwarfism, Reinhardt-Pfeiffer type","equivalent_identifiers":["MONDO:0008618","OMIM:191400","orphanet:2634","UMLS:C1860616","MESH:C537349","SNOMEDCT:715472000","medgen:395935","icd11.foundation:1393171517"],"information_content":100.0}
{"id":"MONDO:0008619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulna metaphyseal dysplasia syndrome","equivalent_identifiers":["MONDO:0008619","OMIM:191420","orphanet:1837","UMLS:C1860615","MESH:C536935","SNOMEDCT:715242008","medgen:348149","icd11.foundation:1343160916"],"information_content":100.0}
{"id":"MONDO:0008620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short ulna","equivalent_identifiers":["MONDO:0008620","OMIM:191440","orphanet:2497","UMLS:C1860614","UMLS:C1862132","UMLS:C5574958","MESH:C538069","SNOMEDCT:1010609002","medgen:1811806","icd11.foundation:2013121778","HP:0003022"],"information_content":90.9}
{"id":"MONDO:0008621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uncombable hair syndrome","equivalent_identifiers":["MONDO:0008621","orphanet:1410","UMLS:C0432347","MESH:C536939","SNOMEDCT:254230001","medgen:96596","icd11.foundation:244892708"],"information_content":90.9}
{"id":"MONDO:0008622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tricho-retino-dento-digital syndrome","equivalent_identifiers":["MONDO:0008622","OMIM:191482","orphanet:1264","UMLS:C1860605","MESH:C536576","SNOMEDCT:719910004","medgen:348658","icd11.foundation:200680230"],"information_content":100.0}
{"id":"MONDO:0008623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Undritz anomaly","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0008623","OMIM:191500","UMLS:C1860604","MESH:C566014","medgen:348657"],"information_content":100.0}
{"id":"MONDO:0008624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Upington disease","equivalent_identifiers":["MONDO:0008624","OMIM:191520","orphanet:3408","UMLS:C1860596","MESH:C536472","SNOMEDCT:719041000","medgen:348145","icd11.foundation:1846351406"],"information_content":100.0}
{"id":"MONDO:0008626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ureter, bifid or double","equivalent_identifiers":["MONDO:0008626","OMIM:191550","UMLS:C1860586","MESH:C566012","medgen:348142"],"information_content":100.0}
{"id":"MONDO:0008627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ureter cancer","equivalent_identifiers":["MONDO:0008627","DOID:11819","OMIM:191600","UMLS:C0153619","MESH:D014516","MEDDRA:10026596","MEDDRA:10046375","MEDDRA:10046384","MEDDRA:10046392","MEDDRA:10046395","NCIT:C7543","SNOMEDCT:363458004","medgen:102281","ICD10:C66","ICD9:189.2"],"information_content":75.7}
{"id":"MONDO:0008628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ureterocele","equivalent_identifiers":["MONDO:0008628","DOID:4022","OMIM:191650","EFO:1001227","UMLS:C0041960","MESH:D014518","MEDDRA:10056433","NCIT:C123159","SNOMEDCT:12818004","medgen:21778","icd11.foundation:408801251","HP:0000070"],"information_content":88.2}
{"id":"MONDO:0008630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary bladder, atony of","equivalent_identifiers":["MONDO:0008630","OMIM:191800","UMLS:C5231389","medgen:1684829"],"information_content":100.0}
{"id":"MONDO:0008632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urticaria, aquagenic","equivalent_identifiers":["MONDO:0008632","OMIM:191850","UMLS:C0263334","MESH:C562481","MEDDRA:10046739","SNOMEDCT:89870006","medgen:82663","HP:0410136"],"information_content":100.0}
{"id":"MONDO:0008633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Muckle-Wells syndrome","equivalent_identifiers":["MONDO:0008633","DOID:0050854","OMIM:191900","orphanet:575","UMLS:C0268390","UMLS:C1304205","MEDDRA:10064569","NCIT:C119054","SNOMEDCT:15123008","SNOMEDCT:402417009","medgen:120634","icd11.foundation:1983358487","ICD10:M04.2"],"information_content":100.0}
{"id":"MONDO:0008634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urticaria, familial localized heat","equivalent_identifiers":["MONDO:0008634","OMIM:191950","UMLS:C1860551","MESH:C566011","medgen:395922"],"information_content":100.0}
{"id":"MONDO:0008635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine anomalies","equivalent_identifiers":["MONDO:0008635","OMIM:192000","UMLS:C0266383","MESH:C562565","MEDDRA:10010664","MEDDRA:10010665","MEDDRA:10061079","SNOMEDCT:37849005","medgen:78598","HP:0000130"],"information_content":67.5}
{"id":"MONDO:0008636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"double uterus-hemivagina-renal agenesis syndrome","equivalent_identifiers":["MONDO:0008636","OMIM:192050","orphanet:3411","UMLS:C1860549","MESH:C566010","SNOMEDCT:722431007","medgen:348132"],"information_content":100.0}
{"id":"MONDO:0008637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bifid uvula","equivalent_identifiers":["MONDO:0008637","OMIM:192100","orphanet:99771","UMLS:C0266122","UMLS:C4551488","MEDDRA:10053507","MEDDRA:10053533","SNOMEDCT:18910001","medgen:1646931","icd11.foundation:684398038","HP:0000193"],"information_content":100.0}
{"id":"MONDO:0008638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"varicose veins","equivalent_identifiers":["MONDO:0008638","DOID:799","OMIM:192200","UMLS:C0042345","MESH:D014648","MEDDRA:10046996","MEDDRA:10047001","MEDDRA:10047008","MEDDRA:10047029","MEDDRA:10047189","MEDDRA:10057165","MEDDRA:10090127","NCIT:C35114","SNOMEDCT:128060009","SNOMEDCT:12856003","SNOMEDCT:399989005","medgen:21827","ICD10:I83.90","HP:0002619"],"information_content":82.6}
{"id":"MONDO:0008640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vasculitis, lymphocytic, nodular","equivalent_identifiers":["MONDO:0008640","OMIM:192310","UMLS:C1860519","MESH:C566008","medgen:348635"],"information_content":100.0}
{"id":"MONDO:0008641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations","equivalent_identifiers":["MONDO:0008641","DOID:0111567","OMIM:192315","orphanet:247691","UMLS:C1860518","MESH:C566007","SNOMEDCT:720854004","SNOMEDCT:783787000","medgen:348124","icd11.foundation:554838792"],"information_content":100.0}
{"id":"MONDO:0008642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"VACTERL/vater association","equivalent_identifiers":["MONDO:0008642","DOID:14679","OMIM:192350","orphanet:887","UMLS:C0220708","UMLS:C4225671","MESH:C536495","MESH:C536534","MEDDRA:10053665","MEDDRA:10066022","NCIT:C99105","SNOMEDCT:27742002","SNOMEDCT:431395004","medgen:902479","icd11.foundation:1452617987"],"information_content":92.8}
{"id":"MONDO:0008644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"velocardiofacial syndrome","equivalent_identifiers":["MONDO:0008644","DOID:12583","OMIM:192430","UMLS:C0220704","MEDDRA:10066430","medgen:65085","ICD10:Q93.81","ICD9:758.32"],"information_content":100.0}
{"id":"MONDO:0008645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome","equivalent_identifiers":["MONDO:0008645","OMIM:192445","orphanet:3201","UMLS:C1860471","UMLS:C4304408","MESH:C537497","SNOMEDCT:719823007","medgen:395493"],"information_content":100.0}
{"id":"MONDO:0008647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 1","equivalent_identifiers":["MONDO:0008647","DOID:0110307","OMIM:192600","UMLS:C0205700","UMLS:C0700053","UMLS:C3495498","MESH:C566005","MEDDRA:10021230","MEDDRA:10021280","NCIT:C172092","medgen:501195","HP:0001670"],"information_content":100.0}
{"id":"MONDO:0008648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular tachycardia, familial","equivalent_identifiers":["MONDO:0008648","OMIM:192605","UMLS:C0340485","SNOMEDCT:233906007","medgen:83309"],"information_content":85.5}
{"id":"MONDO:0008649","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"venular insufficiency, systemic","equivalent_identifiers":["MONDO:0008649","OMIM:192700","UMLS:C1860465","MESH:C566004","medgen:348623"],"information_content":100.0}
{"id":"MONDO:0008650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome","equivalent_identifiers":["MONDO:0008650","OMIM:192800","orphanet:2064","UMLS:C1860464","UMLS:C4510303","MESH:C536344","SNOMEDCT:724064004","medgen:348108"],"information_content":100.0}
{"id":"MONDO:0008651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vertebral hypoplasia with lumbar kyphosis","equivalent_identifiers":["MONDO:0008651","OMIM:192900","UMLS:C1860463","MESH:C566002","medgen:348622"],"information_content":100.0}
{"id":"MONDO:0008652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vertical Talus","equivalent_identifiers":["MONDO:0008652","DOID:0111568","OMIM:192950","orphanet:178382","UMLS:C0240912","MESH:C536345","MEDDRA:10066242","SNOMEDCT:205082007","SNOMEDCT:205359003","medgen:66821","icd11.foundation:1525079646","HP:0001838"],"information_content":92.8}
{"id":"MONDO:0008653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vesicoureteral reflux 1","equivalent_identifiers":["MONDO:0008653","OMIM:193000","UMLS:C4551858","medgen:1644868"],"information_content":100.0}
{"id":"MONDO:0008654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 27A","equivalent_identifiers":["MONDO:0008654","OMIM:193003","MESH:C537856"],"information_content":100.0}
{"id":"MONDO:0008655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vestibulocochlear dysfunction, progressive","equivalent_identifiers":["MONDO:0008655","OMIM:193005","UMLS:C2931176","MESH:C536346","medgen:419730"],"information_content":100.0}
{"id":"MONDO:0008659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transcobalamin I deficiency","equivalent_identifiers":["MONDO:0008659","OMIM:193090","orphanet:2967","UMLS:C0342700","UMLS:C2674026","MESH:C562798","SNOMEDCT:237933007","medgen:90993"],"information_content":100.0}
{"id":"MONDO:0008660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant hypophosphatemic rickets","equivalent_identifiers":["MONDO:0008660","DOID:0050948","OMIM:193100","orphanet:89937","UMLS:C0342642","MESH:C562791","MEDDRA:10077956","MEDDRA:10077960","NCIT:C123186","SNOMEDCT:237889002","medgen:83346"],"information_content":100.0}
{"id":"MONDO:0008661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitiligo","equivalent_identifiers":["MONDO:0008661","DOID:12306","EFO:0004208","UMLS:C0042900","MESH:D014820","MEDDRA:10047642","MEDDRA:10047643","NCIT:C26915","SNOMEDCT:56727007","medgen:22677","icd11.foundation:1894744640","ICD10:L80","ICD9:709.01","HP:0001045"],"information_content":90.9}
{"id":"MONDO:0008662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant vitreoretinochoroidopathy","equivalent_identifiers":["MONDO:0008662","DOID:0111569","OMIM:193220","orphanet:3086","UMLS:C3888099","MESH:C536352","SNOMEDCT:711162004","medgen:854768","icd11.foundation:96951767"],"information_content":100.0}
{"id":"MONDO:0008663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"snowflake vitreoretinal degeneration","equivalent_identifiers":["MONDO:0008663","DOID:0111570","OMIM:193230","orphanet:91496","UMLS:C1860405","MESH:C536677","medgen:395476","icd11.foundation:282570444","HP:0011533"],"information_content":100.0}
{"id":"MONDO:0008665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tucker syndrome","equivalent_identifiers":["MONDO:0008665","OMIM:193240","orphanet:2997","UMLS:C1860403","MESH:C536923","SNOMEDCT:771263004","medgen:349807"],"information_content":100.0}
{"id":"MONDO:0008666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"volvulus of midgut","equivalent_identifiers":["MONDO:0008666","OMIM:193250","UMLS:C0221210","UMLS:C3496048","MESH:C562456","MEDDRA:10064024","NCIT:C98961","SNOMEDCT:253789002","SNOMEDCT:29980002","SNOMEDCT:458422009","SNOMEDCT:48641006","medgen:113153","HP:0002566"],"information_content":90.9}
{"id":"MONDO:0008667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Hippel-Lindau disease","equivalent_identifiers":["MONDO:0008667","DOID:14175","OMIM:193300","orphanet:892","UMLS:C0019562","UMLS:C2674004","MESH:D006623","MEDDRA:10047716","NCIT:C3105","SNOMEDCT:46659004","medgen:42458","icd11.foundation:1985408165","ICD10:Q85.83"],"information_content":83.1}
{"id":"MONDO:0008668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Willebrand disease 1","equivalent_identifiers":["MONDO:0008668","DOID:0060573","OMIM:193400","orphanet:166078","UMLS:C1264039","MESH:D056725","NCIT:C131685","SNOMEDCT:128106003","medgen:220393","ICD10:D68.01"],"information_content":100.0}
{"id":"MONDO:0008670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 1","equivalent_identifiers":["MONDO:0008670","DOID:0110948","OMIM:193500","orphanet:894","UMLS:C1847800","NCIT:C75008","SNOMEDCT:1010606009","medgen:376211","icd11.foundation:547536187"],"information_content":100.0}
{"id":"MONDO:0008671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 2A","equivalent_identifiers":["MONDO:0008671","DOID:0110950","OMIM:193510","UMLS:C1860339","MESH:C536464","NCIT:C75011","medgen:349786"],"information_content":100.0}
{"id":"MONDO:0008673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrofacial dysostosis, Weyers type","equivalent_identifiers":["MONDO:0008673","DOID:0111571","OMIM:193530","orphanet:952","UMLS:C0457013","MESH:C536695","SNOMEDCT:277807007","medgen:141594","icd11.foundation:547338814"],"information_content":100.0}
{"id":"MONDO:0008675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Freeman-Sheldon syndrome","equivalent_identifiers":["MONDO:0008675","DOID:0111604","DOID:0111605","OMIM:193700","orphanet:2053","UMLS:C0265224","MESH:C535483","MEDDRA:10073655","NCIT:C98931","SNOMEDCT:52616002","medgen:120516","icd11.foundation:1314169421"],"information_content":95.4}
{"id":"MONDO:0008676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"white sponge nevus 1","equivalent_identifiers":["MONDO:0008676","DOID:0081287","OMIM:193900","UMLS:C4011926","medgen:860363"],"information_content":100.0}
{"id":"MONDO:0008678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Williams syndrome","equivalent_identifiers":["MONDO:0008678","DOID:1928","OMIM:194050","orphanet:904","UMLS:C0175702","MESH:D018980","MEDDRA:10049644","NCIT:C85232","SNOMEDCT:63247009","medgen:59799","ICD10:Q93.82"],"information_content":100.0}
{"id":"MONDO:0008679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilms tumor 1","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0008679","OMIM:194070"],"information_content":100.0}
{"id":"MONDO:0008680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilms tumor 2","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0008680","OMIM:194071","UMLS:C1853800","UMLS:C3887743","MESH:C536853","medgen:854562"],"information_content":100.0}
{"id":"MONDO:0008682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Denys-Drash syndrome","equivalent_identifiers":["MONDO:0008682","DOID:3764","OMIM:194080","orphanet:220","UMLS:C0950121","MESH:D030321","MEDDRA:10070179","NCIT:C84668","SNOMEDCT:236385009","medgen:181980","icd11.foundation:904981302"],"information_content":90.9}
{"id":"MONDO:0008683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilms tumor 3","equivalent_identifiers":["MONDO:0008683","OMIM:194090","UMLS:C1860265","MESH:C565991","medgen:349770"],"information_content":100.0}
{"id":"MONDO:0008684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolf-Hirschhorn syndrome","equivalent_identifiers":["MONDO:0008684","DOID:0050460","OMIM:194190","orphanet:280","UMLS:C0796117","UMLS:C0796202","UMLS:C1956097","MESH:C536737","MESH:D054877","MEDDRA:10050361","NCIT:C35528","SNOMEDCT:17122004","SNOMEDCT:718226002","medgen:408255","icd11.foundation:1337401724","ICD10:Q93.3"],"information_content":92.8}
{"id":"MONDO:0008685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolff-Parkinson-White syndrome","equivalent_identifiers":["MONDO:0008685","DOID:384","OMIM:194200","EFO:1001450","UMLS:C0032915","UMLS:C0043202","UMLS:C0264897","UMLS:C0392470","MESH:D011226","MESH:D014927","MESH:D058606","MEDDRA:10002611","MEDDRA:10048015","MEDDRA:10048041","MEDDRA:10049291","MEDDRA:10057634","NCIT:C34940","NCIT:C35132","SNOMEDCT:16797001","SNOMEDCT:17869006","SNOMEDCT:74390002","medgen:12162","icd11.foundation:1091030330","ICD9:426.7","HP:0001716"],"information_content":95.4}
{"id":"MONDO:0008686","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Woolly hair","equivalent_identifiers":["MONDO:0008686","DOID:0111572","orphanet:170","UMLS:C0343073","UMLS:C0345427","UMLS:C4072835","UMLS:C4072836","UMLS:C4073292","MESH:C536745","MEDDRA:10048017","SNOMEDCT:254231002","SNOMEDCT:52564001","medgen:87469","HP:0002224"],"information_content":84.2}
{"id":"MONDO:0008687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Woronets trait","equivalent_identifiers":["MONDO:0008687","OMIM:194320","UMLS:C1860237","medgen:348570"],"information_content":100.0}
{"id":"MONDO:0008689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema","equivalent_identifiers":["MONDO:0008689","DOID:0111576","OMIM:194380","UMLS:C4551512","medgen:1638271"],"information_content":100.0}
{"id":"MONDO:0008692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abetalipoproteinemia","equivalent_identifiers":["MONDO:0008692","DOID:1386","OMIM:200100","orphanet:14","EFO:1001789","UMLS:C0000744","UMLS:C1704299","MESH:D000012","MESH:D052476","MEDDRA:10083851","MEDDRA:10083885","NCIT:C84525","SNOMEDCT:190787008","medgen:1253","ICD10:E78.6","HP:0008181"],"information_content":100.0}
{"id":"MONDO:0008693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ablepharon macrostomia syndrome","equivalent_identifiers":["MONDO:0008693","DOID:0060550","OMIM:200110","orphanet:920","UMLS:C1860224","MESH:C535557","MEDDRA:10083860","SNOMEDCT:718575002","medgen:395439"],"information_content":100.0}
{"id":"MONDO:0008694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudoprogeria syndrome","equivalent_identifiers":["MONDO:0008694","OMIM:200130","orphanet:2985","UMLS:C0796125","MESH:C563111","SNOMEDCT:733086003","medgen:163218"],"information_content":100.0}
{"id":"MONDO:0008695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chorea-acanthocytosis","equivalent_identifiers":["MONDO:0008695","DOID:0050766","OMIM:200150","orphanet:2388","UMLS:C0393576","MEDDRA:10081506","SNOMEDCT:66881004","medgen:98277"],"information_content":100.0}
{"id":"MONDO:0008696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome","equivalent_identifiers":["MONDO:0008696","OMIM:200170","orphanet:90301","UMLS:C1860215","MESH:C536000","medgen:348051"],"information_content":100.0}
{"id":"MONDO:0008698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achalasia","equivalent_identifiers":["MONDO:0008698","DOID:9164","UMLS:C0014848","UMLS:C2939435","MESH:D004931","MEDDRA:10000422","MEDDRA:10000423","MEDDRA:10007645","MEDDRA:10030136","MEDDRA:10030226","MEDDRA:10055457","MEDDRA:10055497","MEDDRA:10055966","NCIT:C84699","SNOMEDCT:235630008","SNOMEDCT:45564002","medgen:5023","icd11.foundation:636464846","ICD10:K22.0","ICD9:530.0","HP:0002571"],"information_content":92.8}
{"id":"MONDO:0008699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achalasia microcephaly syndrome","equivalent_identifiers":["MONDO:0008699","DOID:0050796","OMIM:200450","orphanet:929","UMLS:C1860212","MESH:C536010","SNOMEDCT:718573009","medgen:349753"],"information_content":100.0}
{"id":"MONDO:0008700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acheiropody","equivalent_identifiers":["MONDO:0008700","DOID:0050603","OMIM:200500","orphanet:931","UMLS:C0265559","MESH:C536014","MEDDRA:10081375","SNOMEDCT:177504007","medgen:120547"],"information_content":100.0}
{"id":"MONDO:0008701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achondrogenesis type IA","equivalent_identifiers":["MONDO:0008701","DOID:0080054","OMIM:200600","orphanet:93299","UMLS:C0265273","MESH:C536015","SNOMEDCT:42725006","medgen:78546"],"information_content":100.0}
{"id":"MONDO:0008702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achondrogenesis type II","equivalent_identifiers":["MONDO:0008702","DOID:0080056","OMIM:200610","orphanet:93296","UMLS:C0220685","MESH:C536017","SNOMEDCT:254061001","medgen:66315"],"information_content":100.0}
{"id":"MONDO:0008703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromesomelic dysplasia 2A","equivalent_identifiers":["MONDO:0008703","DOID:0080052","OMIM:200700","orphanet:2098","UMLS:C0265260","MESH:C537915","NCIT:C3816","SNOMEDCT:77542002","medgen:75557"],"information_content":100.0}
{"id":"MONDO:0008704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-limb skeletal dysplasia with severe combined immunodeficiency","equivalent_identifiers":["MONDO:0008704","OMIM:200900","orphanet:935","UMLS:C1860168","MESH:C565984","SNOMEDCT:789777007","medgen:348040","icd11.foundation:469016488"],"information_content":100.0}
{"id":"MONDO:0008705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lysosomal acid phosphatase deficiency","equivalent_identifiers":["MONDO:0008705","OMIM:200950","orphanet:35121","UMLS:C0268410","MESH:C562645","SNOMEDCT:57863006","medgen:78674"],"information_content":100.0}
{"id":"MONDO:0008706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ackerman syndrome","equivalent_identifiers":["MONDO:0008706","OMIM:200970","orphanet:2561","UMLS:C1860167","MESH:C538170","SNOMEDCT:722280000","medgen:395426","icd11.foundation:1946127088"],"information_content":100.0}
{"id":"MONDO:0008707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acro-renal-mandibular syndrome","equivalent_identifiers":["MONDO:0008707","OMIM:200980","orphanet:958","UMLS:C1860166","MESH:C535665","SNOMEDCT:720414005","medgen:395425","icd11.foundation:879242648"],"information_content":100.0}
{"id":"MONDO:0008708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrocallosal syndrome","equivalent_identifiers":["MONDO:0008708","DOID:9250","OMIM:200990","orphanet:36","UMLS:C0796147","UMLS:C2931760","UMLS:C3277723","UMLS:C3280899","MESH:C538177","MESH:D055673","MEDDRA:10083865","MEDDRA:10083871","NCIT:C84531","SNOMEDCT:715951007","medgen:162915","icd11.foundation:1286493807"],"information_content":100.0}
{"id":"MONDO:0008709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrocephalopolydactyly","equivalent_identifiers":["MONDO:0008709","OMIM:200995","orphanet:221054","UMLS:C3495588","MESH:C573722","SNOMEDCT:720417003","medgen:501209","icd11.foundation:1177551296"],"information_content":100.0}
{"id":"MONDO:0008710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RAB23-related Carpenter syndrome","equivalent_identifiers":["MONDO:0008710","DOID:0061098","OMIM:201000","UMLS:C4551510","SNOMEDCT:205813009","medgen:1644017"],"information_content":100.0}
{"id":"MONDO:0008712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrocraniofacial dysostosis","equivalent_identifiers":["MONDO:0008712","OMIM:201050","orphanet:949","UMLS:C1860145","MESH:C536892","SNOMEDCT:720418008","medgen:349738"],"information_content":100.0}
{"id":"MONDO:0008713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrodermatitis enteropathica","equivalent_identifiers":["MONDO:0008713","DOID:0050605","OMIM:201100","orphanet:37","UMLS:C0221036","MESH:C538178","MEDDRA:10000596","MEDDRA:10014903","NCIT:C128802","SNOMEDCT:37702000","medgen:66355","icd11.foundation:1813939482"],"information_content":100.0}
{"id":"MONDO:0008714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrofacial dysostosis Rodriguez type","equivalent_identifiers":["MONDO:0008714","DOID:0060383","OMIM:201170","orphanet:1788","UMLS:C1860119","MESH:C538183","SNOMEDCT:720430002","medgen:349730"],"information_content":100.0}
{"id":"MONDO:0008715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrofrontofacionasal dysostosis","equivalent_identifiers":["MONDO:0008715","DOID:0060226","orphanet:1784","UMLS:C1860118","SNOMEDCT:720408003","medgen:349729","icd11.foundation:700995487"],"information_content":92.8}
{"id":"MONDO:0008716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrogeria","equivalent_identifiers":["MONDO:0008716","OMIM:201200","orphanet:2500","UMLS:C0238590","UMLS:C0406584","MESH:C538187","SNOMEDCT:238871000","SNOMEDCT:238872007","medgen:96063","icd11.foundation:1607996977"],"information_content":100.0}
{"id":"MONDO:0008717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromesomelic dysplasia 2C, Hunter-Thompson type","equivalent_identifiers":["MONDO:0008717","DOID:0080051","OMIM:201250","orphanet:968","UMLS:C2930970","SNOMEDCT:389167007","medgen:419681"],"information_content":100.0}
{"id":"MONDO:0008718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Morvan syndrome","equivalent_identifiers":["MONDO:0008718","orphanet:83467","EFO:1001897","UMLS:C3854373","MEDDRA:10075006","SNOMEDCT:763803004","medgen:1632829"],"information_content":95.4}
{"id":"MONDO:0008720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital isolated adrenocorticotropic hormone deficiency","equivalent_identifiers":["MONDO:0008720","DOID:0080150","OMIM:201400","orphanet:199296","EFO:1001979","UMLS:C0271583","UMLS:C0342388","MESH:C535668","MESH:C562707","MEDDRA:10057213","MEDDRA:10057217","MEDDRA:10073179","MEDDRA:10073203","MEDDRA:10078569","NCIT:C120433","SNOMEDCT:237692001","SNOMEDCT:80599001","medgen:137968","HP:0011748"],"information_content":92.8}
{"id":"MONDO:0008721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"medium chain acyl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0008721","DOID:0080153","OMIM:201450","orphanet:42","UMLS:C0220710","MESH:C536038","MEDDRA:10072654","NCIT:C84538","SNOMEDCT:128596003","medgen:65086","icd11.foundation:627734797"],"information_content":100.0}
{"id":"MONDO:0008722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short chain acyl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0008722","DOID:0080154","OMIM:201470","orphanet:26792","UMLS:C0342783","MESH:C537596","MEDDRA:10072279","MEDDRA:10072655","NCIT:C84539","SNOMEDCT:124166007","SNOMEDCT:787412002","medgen:90998","icd11.foundation:180018315"],"information_content":100.0}
{"id":"MONDO:0008723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"very long chain acyl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0008723","DOID:0080155","OMIM:201475","orphanet:26793","UMLS:C3887523","MESH:C536353","MEDDRA:10072277","MEDDRA:10072656","NCIT:C98647","SNOMEDCT:237997005","medgen:854382","icd11.foundation:907810567"],"information_content":100.0}
{"id":"MONDO:0008724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adducted thumbs-arthrogryposis syndrome, Christian type","equivalent_identifiers":["MONDO:0008724","OMIM:201550","orphanet:2952","UMLS:C4304055","UMLS:C5975706","MESH:C562949","SNOMEDCT:720463009","medgen:929724"],"information_content":100.0}
{"id":"MONDO:0008725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital lipoid adrenal hyperplasia due to STAR deficency","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0008725","OMIM:201710","orphanet:90790","UMLS:C0342474","MESH:C537027","MEDDRA:10000020","NCIT:C131426","SNOMEDCT:44231009","medgen:83341"],"information_content":92.8}
{"id":"MONDO:0008726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","equivalent_identifiers":["MONDO:0008726","OMIM:201750","orphanet:63269","UMLS:C3150099","NCIT:C178415","medgen:461449"],"information_content":100.0}
{"id":"MONDO:0008727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency","equivalent_identifiers":["MONDO:0008727","OMIM:201810","orphanet:90791","UMLS:C0342471","MESH:C538236","NCIT:C131088","SNOMEDCT:54470008","medgen:452446","icd11.foundation:929626064"],"information_content":100.0}
{"id":"MONDO:0008728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","equivalent_identifiers":["MONDO:0008728","OMIM:201910","orphanet:90794","UMLS:C0268287","UMLS:C0852654","UMLS:C1859995","UMLS:C2936858","UMLS:C4273964","MESH:C535979","MESH:C565977","MEDDRA:10000021","NCIT:C101042","NCIT:C129302","NCIT:C131087","SNOMEDCT:124221007","SNOMEDCT:52604008","SNOMEDCT:717261006","medgen:424833"],"information_content":92.8}
{"id":"MONDO:0008729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency","equivalent_identifiers":["MONDO:0008729","OMIM:202010","orphanet:90795","UMLS:C0268292","UMLS:C3669121","MESH:C535978","MEDDRA:10000002","NCIT:C131085","SNOMEDCT:124214007","medgen:82783","icd11.foundation:791376680"],"information_content":100.0}
{"id":"MONDO:0008730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency","equivalent_identifiers":["MONDO:0008730","OMIM:202110","orphanet:90793","UMLS:C0268285","MESH:C538237","MEDDRA:10000014","SNOMEDCT:124220008","medgen:82782","icd11.foundation:587903316"],"information_content":100.0}
{"id":"MONDO:0008731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial adrenal hypoplasia with absent pituitary luteinizing hormone","equivalent_identifiers":["MONDO:0008731","OMIM:202150","orphanet:95700","UMLS:C1859978","MESH:C565976","medgen:348510"],"information_content":100.0}
{"id":"MONDO:0008733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial glucocorticoid deficiency","equivalent_identifiers":["MONDO:0008733","DOID:0080620","OMIM.PS:202200","orphanet:361","UMLS:C4054695","MESH:C565974","MEDDRA:10082603","NCIT:C120446","SNOMEDCT:765326001","medgen:885955","icd11.foundation:861297039"],"information_content":87.2}
{"id":"MONDO:0008734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenocortical carcinoma, hereditary","equivalent_identifiers":["MONDO:0008734","OMIM:202300","UMLS:C1859972","UMLS:C1859973","MESH:C565972","MESH:C565973","medgen:348508"],"information_content":100.0}
{"id":"MONDO:0008735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenocortical unresponsiveness to ACTH with postreceptor defect","equivalent_identifiers":["MONDO:0008735","OMIM:202355","UMLS:C1859971","MESH:C565971","medgen:348507"],"information_content":100.0}
{"id":"MONDO:0008736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroxisome biogenesis disorder 2B","equivalent_identifiers":["MONDO:0008736","DOID:0080622","OMIM:202370","UMLS:C3550234","NCIT:C155751","medgen:763148"],"information_content":100.0}
{"id":"MONDO:0008737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Afibrinogenemia","equivalent_identifiers":["MONDO:0008737","DOID:2236","OMIM:202400","orphanet:98880","UMLS:C0001733","UMLS:C2584774","MESH:D000347","MEDDRA:10001453","MEDDRA:10052651","MEDDRA:10066356","MEDDRA:10066357","NCIT:C98130","SNOMEDCT:154818001","SNOMEDCT:278504009","SNOMEDCT:439145006","medgen:749036","HP:0034287"],"information_content":92.8}
{"id":"MONDO:0008738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aganglionosis, total intestinal","equivalent_identifiers":["MONDO:0008738","OMIM:202550","UMLS:C0345240","MESH:C538058","NCIT:C101074","SNOMEDCT:204745000","medgen:83378","HP:0005241"],"information_content":95.4}
{"id":"MONDO:0008739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agenesis of cerebral white matter","equivalent_identifiers":["MONDO:0008739","OMIM:202600","UMLS:C1859969","medgen:347986","HP:0200017"],"information_content":100.0}
{"id":"MONDO:0008740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Otocephaly","equivalent_identifiers":["MONDO:0008740","DOID:0060341","OMIM:202650","orphanet:990","UMLS:C0265242","UMLS:C1876185","MESH:C537996","MESH:C562503","MEDDRA:10058118","NCIT:C124568","SNOMEDCT:48180002","medgen:78541","ICD10:Q18.2"],"information_content":100.0}
{"id":"MONDO:0008741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PAGOD syndrome","equivalent_identifiers":["MONDO:0008741","OMIM:202660","orphanet:991","UMLS:C1859967","MESH:C537018","SNOMEDCT:722132007","medgen:347985"],"information_content":100.0}
{"id":"MONDO:0008742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant severe congenital neutropenia","equivalent_identifiers":["MONDO:0008742","DOID:0112130","orphanet:486","UMLS:C4749612","NCIT:C166155","SNOMEDCT:770947009","medgen:1665322"],"information_content":90.9}
{"id":"MONDO:0008743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stimmler syndrome","equivalent_identifiers":["MONDO:0008743","OMIM:202900","orphanet:3199","UMLS:C1859965","MESH:C565968","SNOMEDCT:733072002","medgen:348505"],"information_content":100.0}
{"id":"MONDO:0008744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alar cartilages hypoplasia-coloboma-telecanthus syndrome","equivalent_identifiers":["MONDO:0008744","OMIM:203000","orphanet:2007","UMLS:C1859964","MESH:C535967","medgen:348504"],"information_content":100.0}
{"id":"MONDO:0008745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 1A","equivalent_identifiers":["MONDO:0008745","DOID:0070094","OMIM:203100","orphanet:79431","UMLS:C4551504","NCIT:C168731","SNOMEDCT:6483008","medgen:1643910","icd11.foundation:1168847652"],"information_content":95.4}
{"id":"MONDO:0008746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 2","equivalent_identifiers":["MONDO:0008746","DOID:0070096","OMIM:203200","orphanet:79432","UMLS:C0268495","UMLS:C0268497","MESH:C537730","MESH:C562662","SNOMEDCT:11160000","SNOMEDCT:26336006","medgen:82810","icd11.foundation:2019316252"],"information_content":100.0}
{"id":"MONDO:0008747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 3","equivalent_identifiers":["MONDO:0008747","DOID:0070097","OMIM:203290","orphanet:79433","UMLS:C0342683","MESH:C537189","MESH:C537731","SNOMEDCT:63450009","medgen:87450","icd11.foundation:1565320806"],"information_content":100.0}
{"id":"MONDO:0008748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 1","equivalent_identifiers":["MONDO:0008748","DOID:0060539","OMIM:203300","UMLS:C2931875","MESH:C538539","MEDDRA:10084191","NCIT:C150367","medgen:419514"],"information_content":100.0}
{"id":"MONDO:0008749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoparathyroidism type 2","equivalent_identifiers":["MONDO:0008749","OMIM:203330","orphanet:94090","UMLS:C2932717","MESH:C548077","NCIT:C131132","SNOMEDCT:42183005","medgen:444371","icd11.foundation:1650158822"],"information_content":100.0}
{"id":"MONDO:0008750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-albinism-digital anomalies syndrome","equivalent_identifiers":["MONDO:0008750","OMIM:203340","orphanet:2513","UMLS:C1859910","MESH:C537322","SNOMEDCT:719377004","medgen:395372"],"information_content":100.0}
{"id":"MONDO:0008751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corticosterone methyloxidase type 1 deficiency","equivalent_identifiers":["MONDO:0008751","DOID:0080626","OMIM:203400","UMLS:C0268293","MESH:C537806","SNOMEDCT:47757001","medgen:82784"],"information_content":100.0}
{"id":"MONDO:0008752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alexander disease","equivalent_identifiers":["MONDO:0008752","DOID:4252","OMIM:203450","orphanet:58","UMLS:C0270726","MESH:D038261","MEDDRA:10083059","NCIT:C84545","SNOMEDCT:81854007","medgen:78724","icd11.foundation:2023359698"],"information_content":92.8}
{"id":"MONDO:0008753","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alkaptonuria","equivalent_identifiers":["MONDO:0008753","DOID:9270","OMIM:203500","orphanet:56","UMLS:C0002066","UMLS:C2931645","MESH:C537862","MESH:D000474","MEDDRA:10001689","MEDDRA:10088000","NCIT:C84546","SNOMEDCT:360378009","medgen:1413","icd11.foundation:1761652827"],"information_content":100.0}
{"id":"MONDO:0008754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia - contractures - dwarfism - intellectual disability syndrome","equivalent_identifiers":["MONDO:0008754","OMIM:203550","orphanet:1005","UMLS:C0795895","MESH:C537051","medgen:167081"],"information_content":100.0}
{"id":"MONDO:0008755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Moynahan syndrome","equivalent_identifiers":["MONDO:0008755","OMIM:203600","orphanet:2574","UMLS:C0265328","MESH:C537052","SNOMEDCT:788417006","medgen:120535"],"information_content":100.0}
{"id":"MONDO:0008756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia - intellectual disability syndrome","equivalent_identifiers":["MONDO:0008756","DOID:0080627","OMIM.PS:203650","orphanet:2850","UMLS:C2931280","MESH:C536660","SNOMEDCT:716191002","medgen:444019"],"information_content":89.4}
{"id":"MONDO:0008757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia universalis congenita","equivalent_identifiers":["MONDO:0008757","DOID:0050634","OMIM:203655","orphanet:701","UMLS:C0263505","UMLS:C1859877","MESH:C537055","MEDDRA:10001767","SNOMEDCT:86166000","medgen:349262","HP:0002289"],"information_content":100.0}
{"id":"MONDO:0008758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alpers Syndrome","equivalent_identifiers":["MONDO:0008758","DOID:0080122","OMIM:203700","orphanet:726","UMLS:C0205710","MEDDRA:10062943","MEDDRA:10083857","NCIT:C35257","SNOMEDCT:20415001","medgen:60012","ICD10:G31.81"],"information_content":100.0}
{"id":"MONDO:0008759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oxoglutaricaciduria","equivalent_identifiers":["MONDO:0008759","DOID:0081326","OMIM:203740","orphanet:31","UMLS:C2752074","MESH:C536582","SNOMEDCT:733630004","medgen:414553"],"information_content":100.0}
{"id":"MONDO:0008760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta-ketothiolase deficiency","equivalent_identifiers":["MONDO:0008760","DOID:14723","OMIM:203750","orphanet:134","UMLS:C1533628","UMLS:C1536500","MESH:C535434","MESH:C535818","MEDDRA:10067728","NCIT:C98841","SNOMEDCT:124258007","SNOMEDCT:237953006","SNOMEDCT:238067002","medgen:280689"],"information_content":100.0}
{"id":"MONDO:0008762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive Alport syndrome","equivalent_identifiers":["MONDO:0008762","DOID:0110033","OMIM:203780","orphanet:88919","UMLS:C1567744","UMLS:C4746745","SNOMEDCT:717767009","medgen:1648334"],"information_content":100.0}
{"id":"MONDO:0008763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alstrom syndrome","equivalent_identifiers":["MONDO:0008763","DOID:0050473","OMIM:203800","orphanet:64","UMLS:C0268425","MESH:D056769","MEDDRA:10068783","MEDDRA:10068814","NCIT:C84549","SNOMEDCT:63702009","medgen:78675"],"information_content":100.0}
{"id":"MONDO:0008764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 1","equivalent_identifiers":["MONDO:0008764","DOID:0110078","OMIM:204000","UMLS:C2931258","MESH:C536600","medgen:419026"],"information_content":100.0}
{"id":"MONDO:0008765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 2","equivalent_identifiers":["MONDO:0008765","DOID:0110016","OMIM:204100","UMLS:C1859844","MESH:C536601","medgen:348473"],"information_content":100.0}
{"id":"MONDO:0008766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amaurosis-hypertrichosis syndrome","equivalent_identifiers":["MONDO:0008766","OMIM:204110","orphanet:1021","UMLS:C1857588","UMLS:C4303739","MESH:C536604","SNOMEDCT:720983002","medgen:341805"],"information_content":100.0}
{"id":"MONDO:0008767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 3","equivalent_identifiers":["MONDO:0008767","DOID:0110731","OMIM:204200","orphanet:228346","UMLS:C0751383","MEDDRA:10052073","MEDDRA:10052082","MEDDRA:10054968","MEDDRA:10054985","NCIT:C61258","medgen:155549"],"information_content":100.0}
{"id":"MONDO:0008768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ceroid lipofuscinosis, neuronal, 6B (Kufs type)","equivalent_identifiers":["MONDO:0008768","DOID:0110730","OMIM:204300","UMLS:C5561927","medgen:1794137"],"information_content":95.4}
{"id":"MONDO:0008769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 2","equivalent_identifiers":["MONDO:0008769","DOID:0110726","OMIM:204500","orphanet:228349","UMLS:C1876161","MESH:C566857","NCIT:C85864","medgen:406281"],"information_content":100.0}
{"id":"MONDO:0008770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 1C","equivalent_identifiers":["MONDO:0008770","DOID:0110056","OMIM:204650","UMLS:C2673923","MESH:C567147","medgen:388763"],"information_content":100.0}
{"id":"MONDO:0008771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 1G","equivalent_identifiers":["MONDO:0008771","DOID:0110066","OMIM:204690","orphanet:1031","UMLS:C2931783","MESH:C538241","SNOMEDCT:109477002","medgen:419162"],"information_content":100.0}
{"id":"MONDO:0008772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 2A1","equivalent_identifiers":["MONDO:0008772","DOID:0110057","OMIM:204700","UMLS:C1290537","UMLS:C2673922","MESH:C538242","MESH:C567146","SNOMEDCT:109474009","medgen:436039"],"information_content":100.0}
{"id":"MONDO:0008773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis","equivalent_identifiers":["MONDO:0008773","OMIM:204730","UMLS:C1859818","MESH:C565960","medgen:347955"],"information_content":100.0}
{"id":"MONDO:0008774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2-aminoadipic 2-oxoadipic aciduria","equivalent_identifiers":["MONDO:0008774","DOID:0111453","OMIM:204750","orphanet:79154","UMLS:C1855626","UMLS:C1859817","MESH:C565453","SNOMEDCT:782918002","medgen:395350"],"information_content":100.0}
{"id":"MONDO:0008775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Amobarbital, deficient N-hydroxylation of","equivalent_identifiers":["MONDO:0008775","OMIM:204800","UMLS:C1859816","MESH:C565959","medgen:347241"],"information_content":100.0}
{"id":"MONDO:0008777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gelatinous drop-like corneal dystrophy","equivalent_identifiers":["MONDO:0008777","DOID:0060449","OMIM:204870","orphanet:98957","UMLS:C0339273","MESH:C535480","NCIT:C142805","SNOMEDCT:419900000","medgen:90939","icd11.foundation:1062815669"],"information_content":100.0}
{"id":"MONDO:0008778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyloidosis, cutaneous bullous","equivalent_identifiers":["MONDO:0008778","OMIM:204900","UMLS:C0268399","MESH:C562644","SNOMEDCT:38606009","medgen:78672"],"information_content":100.0}
{"id":"MONDO:0008779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis","equivalent_identifiers":["MONDO:0008779","EFO:0003857","UMLS:C0003886","MESH:D001176","NCIT:C84572","SNOMEDCT:111246005","SNOMEDCT:77016009","medgen:2455","HP:0002804"],"information_content":87.2}
{"id":"MONDO:0008780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 2, juvenile","equivalent_identifiers":["MONDO:0008780","DOID:0060194","OMIM:205100","UMLS:C1859807","MESH:C565957","SNOMEDCT:1201947005","medgen:349246"],"information_content":100.0}
{"id":"MONDO:0008781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile amyotrophic lateral sclerosis with dementia","equivalent_identifiers":["MONDO:0008781","DOID:0110067","OMIM:205200","UMLS:C1859806","MESH:C565956","medgen:395347"],"information_content":100.0}
{"id":"MONDO:0008782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis with polyglucosan bodies","equivalent_identifiers":["MONDO:0008782","OMIM:205250","UMLS:C1859805","MESH:C565955","medgen:347953"],"information_content":100.0}
{"id":"MONDO:0008783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tangier disease","equivalent_identifiers":["MONDO:0008783","DOID:1388","OMIM:205400","orphanet:31150","UMLS:C0039292","UMLS:C0751544","UMLS:C1704429","UMLS:C2931838","MESH:D013631","MEDDRA:10051875","MEDDRA:10079119","NCIT:C85182","SNOMEDCT:15346004","SNOMEDCT:723579009","medgen:52644"],"information_content":100.0}
{"id":"MONDO:0008785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sideroblastic anemia 2","equivalent_identifiers":["MONDO:0008785","DOID:0060065","OMIM:205950","UMLS:C2673914","UMLS:C4225425","MESH:C567145","medgen:899109"],"information_content":100.0}
{"id":"MONDO:0008786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyridoxine-responsive sideroblastic anemia","equivalent_identifiers":["MONDO:0008786","DOID:0060066","OMIM:206000","UMLS:C0272027","UMLS:C1859787","UMLS:C2937227","MESH:C565954","SNOMEDCT:191260004","SNOMEDCT:25443007","medgen:395346","HP:0005522"],"information_content":100.0}
{"id":"MONDO:0008787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcytic anemia with liver iron overload","equivalent_identifiers":["MONDO:0008787","OMIM:206100","orphanet:83642","UMLS:C3806153","SNOMEDCT:711161006","medgen:812483"],"information_content":100.0}
{"id":"MONDO:0008788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IRIDA syndrome","equivalent_identifiers":["MONDO:0008788","OMIM:206200","orphanet:209981","MESH:C562385","SNOMEDCT:722005000","medgen:39081"],"information_content":100.0}
{"id":"MONDO:0008789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane","equivalent_identifiers":["MONDO:0008789","OMIM:206300","UMLS:C1859786","MESH:C565953","medgen:349245"],"information_content":100.0}
{"id":"MONDO:0008790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism","equivalent_identifiers":["MONDO:0008790","OMIM:206400","UMLS:C1859785","MESH:C565952","medgen:395345"],"information_content":100.0}
{"id":"MONDO:0008791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anencephaly 1","equivalent_identifiers":["MONDO:0008791","OMIM:206500","orphanet:1048","UMLS:C5561928","medgen:1794138"],"information_content":100.0}
{"id":"MONDO:0008792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial angiolipomatosis","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0008792","OMIM:206550","orphanet:199279","UMLS:C1859784","MESH:C565951","SNOMEDCT:774066000","medgen:347235"],"information_content":100.0}
{"id":"MONDO:0008793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert","equivalent_identifiers":["MONDO:0008793","OMIM:206570","UMLS:C1859783","MESH:C536367","medgen:347234"],"information_content":100.0}
{"id":"MONDO:0008795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia-cerebellar ataxia-intellectual disability syndrome","equivalent_identifiers":["MONDO:0008795","DOID:0111578","OMIM:206700","orphanet:1065","UMLS:C0431401","MESH:C536370","MEDDRA:10083891","SNOMEDCT:253176002","medgen:96563"],"information_content":100.0}
{"id":"MONDO:0008796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia-renal agenesis-psychomotor retardation syndrome","equivalent_identifiers":["MONDO:0008796","OMIM:206750","orphanet:1064","UMLS:C1859782","UMLS:C4518585","MESH:C000598722","MESH:C000632444","SNOMEDCT:733116005","medgen:347952"],"information_content":100.0}
{"id":"MONDO:0008797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anodontia","equivalent_identifiers":["MONDO:0008797","DOID:13714","OMIM:206780","orphanet:99797","UMLS:C0399352","UMLS:C4280622","UMLS:C5779669","MESH:D000848","MEDDRA:10002583","MEDDRA:10077459","MEDDRA:10082434","SNOMEDCT:16958000","SNOMEDCT:234951001","SNOMEDCT:26624006","medgen:98313","icd11.foundation:413433873","HP:0000674"],"information_content":88.2}
{"id":"MONDO:0008798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ANONYCHIA","equivalent_identifiers":["MONDO:0008798","DOID:0080082","OMIM:206800","orphanet:94150","UMLS:C0265998","UMLS:C3277900","MESH:C536377","MEDDRA:10081861","SNOMEDCT:23610003","medgen:120563","HP:0001798"],"information_content":86.3}
{"id":"MONDO:0008799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anophthalmia/microphthalmia-esophageal atresia syndrome","equivalent_identifiers":["MONDO:0008799","DOID:0111801","OMIM:206900","orphanet:77298","UMLS:C1859773","UMLS:C1859774","MESH:C565948","MESH:C565949","SNOMEDCT:698851003","medgen:347232"],"information_content":100.0}
{"id":"MONDO:0008800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia with limb anomalies","equivalent_identifiers":["MONDO:0008800","DOID:0060861","OMIM:206920","orphanet:1106","UMLS:C0599973","MESH:C537769","SNOMEDCT:703403003","medgen:154638"],"information_content":100.0}
{"id":"MONDO:0008801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anosmia for isobutyric acid","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0008801","OMIM:207000","UMLS:C1859762","medgen:347228"],"information_content":100.0}
{"id":"MONDO:0008802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"antithrombin, familial hemorrhagic diathesis due to","equivalent_identifiers":["MONDO:0008802","OMIM:207300","UMLS:C1859761","MESH:C565947","medgen:347227"],"information_content":100.0}
{"id":"MONDO:0008803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Antley-Bixler syndrome","equivalent_identifiers":["MONDO:0008803","DOID:0050462","DOID:0081289","orphanet:83","UMLS:C5234850","MEDDRA:10083864","SNOMEDCT:62964007","medgen:1714404","icd11.foundation:2027710139"],"information_content":92.8}
{"id":"MONDO:0008806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome","equivalent_identifiers":["MONDO:0008806","OMIM:207620","orphanet:1112","UMLS:C1859754","MESH:C535881","SNOMEDCT:733118006","medgen:347225"],"information_content":100.0}
{"id":"MONDO:0008808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aplasia cutis congenita-intestinal lymphangiectasia syndrome","equivalent_identifiers":["MONDO:0008808","OMIM:207731","orphanet:1116","UMLS:C1859753","UMLS:C4304031","MESH:C537788","SNOMEDCT:720500008","medgen:349241"],"information_content":100.0}
{"id":"MONDO:0008809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyneuropathy-hand defect syndrome","equivalent_identifiers":["MONDO:0008809","OMIM:207740","orphanet:2926","UMLS:C1859752","UMLS:C2930955","MESH:C535624","MESH:C565945","SNOMEDCT:771261002","medgen:349240"],"information_content":100.0}
{"id":"MONDO:0008810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial apolipoprotein C-II deficiency","equivalent_identifiers":["MONDO:0008810","DOID:0111418","OMIM:207750","orphanet:309020","UMLS:C0268199","UMLS:C1720779","SNOMEDCT:33513003","medgen:328375","icd11.foundation:877401371"],"information_content":100.0}
{"id":"MONDO:0008811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"XK aprosencephaly","equivalent_identifiers":["MONDO:0008811","OMIM:207770","orphanet:3469","UMLS:C0795952","MESH:C536767","SNOMEDCT:1162839003","SNOMEDCT:277921008","medgen:167087","icd11.foundation:1805259428"],"information_content":100.0}
{"id":"MONDO:0008812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AREDYLD syndrome","equivalent_identifiers":["MONDO:0008812","OMIM:207780","orphanet:1133","UMLS:C0342280","MESH:C537427","SNOMEDCT:237610008","medgen:87435","icd11.foundation:2007371732"],"information_content":100.0}
{"id":"MONDO:0008813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arachnoid cyst","equivalent_identifiers":["MONDO:0008813","orphanet:2356","UMLS:C0078981","MESH:D016080","MEDDRA:10049005","NCIT:C3455","SNOMEDCT:33595009","SNOMEDCT:785284009","medgen:86860","HP:0100702"],"information_content":89.4}
{"id":"MONDO:0008814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Argininemia","equivalent_identifiers":["MONDO:0008814","DOID:9278","OMIM:207800","orphanet:90","UMLS:C0268548","MESH:D020162","MEDDRA:10062695","MEDDRA:10083974","MEDDRA:10090356","MEDDRA:10090357","NCIT:C84568","SNOMEDCT:23501004","medgen:78688","icd11.foundation:1619102598","ICD10:E72.21"],"information_content":100.0}
{"id":"MONDO:0008815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"argininosuccinic aciduria","equivalent_identifiers":["MONDO:0008815","DOID:14755","OMIM:207900","orphanet:23","UMLS:C0268547","MESH:D056807","MEDDRA:10058299","MEDDRA:10083968","NCIT:C84569","SNOMEDCT:41013004","medgen:78687","icd11.foundation:439383288","HP:0025630"],"information_content":100.0}
{"id":"MONDO:0008816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chiari malformation type II","equivalent_identifiers":["MONDO:0008816","OMIM:207950","UMLS:C0555206","MEDDRA:10056945","SNOMEDCT:373587001","medgen:108222","HP:0025660"],"information_content":100.0}
{"id":"MONDO:0008817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arterial calcification, generalized, of infancy, 1","equivalent_identifiers":["MONDO:0008817","OMIM:208000","UMLS:C1859728","UMLS:C4551985","MESH:C565944","NCIT:C128805","medgen:1631685"],"information_content":100.0}
{"id":"MONDO:0008818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arterial tortuosity syndrome","equivalent_identifiers":["MONDO:0008818","DOID:0050645","OMIM:208050","orphanet:3342","UMLS:C1859726","MESH:C565942","MEDDRA:10080250","SNOMEDCT:458432002","medgen:347942","icd11.foundation:371764699"],"information_content":100.0}
{"id":"MONDO:0008819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arteriosclerosis, severe juvenile","equivalent_identifiers":["MONDO:0008819","OMIM:208060","UMLS:C1859725","MESH:C565941","medgen:395330"],"information_content":100.0}
{"id":"MONDO:0008822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, renal dysfunction, and cholestasis 1","equivalent_identifiers":["MONDO:0008822","DOID:0111353","OMIM:208085","UMLS:C1859722","medgen:347219"],"information_content":100.0}
{"id":"MONDO:0008823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis multiplex congenita 2, neurogenic type","equivalent_identifiers":["MONDO:0008823","DOID:0090124","OMIM:208100","orphanet:1143","UMLS:C1859721","UMLS:C5435650","MESH:C536614","SNOMEDCT:715316005","medgen:1725686"],"information_content":90.9}
{"id":"MONDO:0008824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fetal akinesia","equivalent_identifiers":["MONDO:0008824","DOID:0111375","OMIM.PS:208150","UMLS:C0265228","UMLS:C1276035","UMLS:C3151520","UMLS:C5442080","MESH:C536647","NCIT:C129071","NCIT:C99008","SNOMEDCT:401138005","HP:0001989"],"information_content":88.2}
{"id":"MONDO:0008825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis multiplex congenita-whistling face syndrome","equivalent_identifiers":["MONDO:0008825","OMIM:208155","orphanet:1150","UMLS:C1859711","MESH:C538401","SNOMEDCT:720514008","medgen:349231"],"information_content":100.0}
{"id":"MONDO:0008826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis-hyperkeratosis syndrome, lethal form","equivalent_identifiers":["MONDO:0008826","OMIM:208158","orphanet:1485","UMLS:C1859710","MESH:C535883","SNOMEDCT:726620005","medgen:349230"],"information_content":100.0}
{"id":"MONDO:0008827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive pseudorheumatoid arthropathy of childhood","equivalent_identifiers":["MONDO:0008827","DOID:0090004","OMIM:208230","orphanet:1159","UMLS:C0432215","MESH:C535387","NCIT:C202612","SNOMEDCT:254065005","medgen:96581","icd11.foundation:280808713","ICD10:Q77.7"],"information_content":100.0}
{"id":"MONDO:0008828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jacobs syndrome","equivalent_identifiers":["MONDO:0008828","DOID:0090127","OMIM:208250","orphanet:2848","EFO:0009028","UMLS:C1859690","MESH:C537560","MEDDRA:10083494","SNOMEDCT:771187008","medgen:349226"],"information_content":100.0}
{"id":"MONDO:0008829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chylous ascites","equivalent_identifiers":["MONDO:0008829","OMIM:208300","orphanet:1160","UMLS:C0008732","MESH:D002915","MEDDRA:10003446","MEDDRA:10009167","NCIT:C34482","SNOMEDCT:52985009","medgen:969","icd11.foundation:768846885","HP:0012281"],"information_content":100.0}
{"id":"MONDO:0008830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aspartylglucosaminuria","equivalent_identifiers":["MONDO:0008830","DOID:0050461","OMIM:208400","orphanet:93","UMLS:C0268225","UMLS:C2931840","MESH:C538402","MESH:D054880","MEDDRA:10068220","NCIT:C61273","SNOMEDCT:54954004","medgen:78649","icd11.foundation:2143470200","ICD10:E77.1","HP:0012068"],"information_content":100.0}
{"id":"MONDO:0008831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asphyxiating thoracic dystrophy 1","equivalent_identifiers":["MONDO:0008831","DOID:0110085","OMIM:208500","UMLS:C4551856","medgen:1648057"],"information_content":100.0}
{"id":"MONDO:0008832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Polyasplenia","equivalent_identifiers":["MONDO:0008832","DOID:0060856","OMIM:208530","orphanet:97548","UMLS:C0175707","UMLS:C0265357","UMLS:C1876171","UMLS:C1876173","UMLS:C3178806","MESH:C566862","MESH:C566864","MEDDRA:10059124","MEDDRA:10059125","MEDDRA:10068334","MEDDRA:10068335","MEDDRA:10080599","SNOMEDCT:253336000","SNOMEDCT:72425000","medgen:465274","HP:0011536"],"information_content":100.0}
{"id":"MONDO:0008833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal-hepatic-pancreatic dysplasia 1","equivalent_identifiers":["MONDO:0008833","OMIM:208540","UMLS:C3715199","medgen:811626"],"information_content":100.0}
{"id":"MONDO:0008834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asthma, nasal polyps, and aspirin intolerance","equivalent_identifiers":["MONDO:0008834","DOID:0111579","OMIM:208550","UMLS:C1858067","UMLS:C1859648","MESH:C565739","MESH:C565935","medgen:347198"],"information_content":100.0}
{"id":"MONDO:0008835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asthma, short stature, and elevated IgA","equivalent_identifiers":["MONDO:0008835","OMIM:208600","UMLS:C1859647","MESH:C565934","medgen:395313"],"information_content":100.0}
{"id":"MONDO:0008836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia with myoclonic epilepsy and presenile dementia","equivalent_identifiers":["MONDO:0008836","OMIM:208700","UMLS:C1859646","MESH:C565933","medgen:347924"],"information_content":100.0}
{"id":"MONDO:0008837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia, deafness, and cardiomyopathy","equivalent_identifiers":["MONDO:0008837","OMIM:208750","UMLS:C1859645","MESH:C565932","medgen:395312"],"information_content":100.0}
{"id":"MONDO:0008838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia - deafness - intellectual disability syndrome","equivalent_identifiers":["MONDO:0008838","OMIM:208850","orphanet:1188","UMLS:C0796045","UMLS:C4304023","MESH:C535295","SNOMEDCT:720517001","medgen:208659","icd11.foundation:2133046984"],"information_content":100.0}
{"id":"MONDO:0008840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia telangiectasia","equivalent_identifiers":["MONDO:0008840","DOID:12704","OMIM:208900","orphanet:100","UMLS:C0004135","MESH:D001260","MEDDRA:10003594","NCIT:C2887","SNOMEDCT:68504005","medgen:439"],"information_content":90.9}
{"id":"MONDO:0008842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia","equivalent_identifiers":["MONDO:0008842","DOID:0050754","OMIM:208920","orphanet:1168","UMLS:C1859598","MESH:C538013","NCIT:C173401","SNOMEDCT:715366004","medgen:395301"],"information_content":100.0}
{"id":"MONDO:0008843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome","equivalent_identifiers":["MONDO:0008843","OMIM:209010","orphanet:1192","UMLS:C1859596","UMLS:C2931125","MESH:C536178","MESH:C565928","SNOMEDCT:720519003","medgen:349198"],"information_content":100.0}
{"id":"MONDO:0008844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Athrombia, essential","equivalent_identifiers":["MONDO:0008844","OMIM:209050","UMLS:C1859595","MESH:C565927","medgen:349197"],"information_content":100.0}
{"id":"MONDO:0008845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atonic-astatic syndrome of Foerster","equivalent_identifiers":["MONDO:0008845","OMIM:209100","UMLS:C1859594","MESH:C565926","medgen:395300"],"information_content":100.0}
{"id":"MONDO:0008846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atransferrinemia","equivalent_identifiers":["MONDO:0008846","DOID:0050649","OMIM:209300","orphanet:1195","UMLS:C0521802","UMLS:C3277918","MESH:C538259","MEDDRA:10083970","MEDDRA:10083978","NCIT:C125693","SNOMEDCT:111571009","medgen:105489","HP:0012239"],"information_content":100.0}
{"id":"MONDO:0008847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrichia with papular lesions","equivalent_identifiers":["MONDO:0008847","DOID:0060689","OMIM:209500","orphanet:86819","UMLS:C1859592","MESH:C565924","SNOMEDCT:715963002","medgen:395299","ICD10:L65.8"],"information_content":100.0}
{"id":"MONDO:0008848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heart Block","equivalent_identifiers":["MONDO:0008848","OMIM:209600","UMLS:C0004331","MESH:D006327","MEDDRA:10000034","MEDDRA:10003853","MEDDRA:10013458","MEDDRA:10069571","NCIT:C71045","SNOMEDCT:50799005","medgen:2496","icd11.foundation:268503599","HP:0011709"],"information_content":85.5}
{"id":"MONDO:0008849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrophoderma vermiculata","equivalent_identifiers":["MONDO:0008849","DOID:0080756","OMIM:209700","orphanet:79100","UMLS:C0263429","MEDDRA:10083837","MEDDRA:10083839","SNOMEDCT:2736005","medgen:82666"],"information_content":100.0}
{"id":"MONDO:0008850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cooper-Jabs syndrome","equivalent_identifiers":["MONDO:0008850","OMIM:209770","orphanet:1488","UMLS:C1859591","UMLS:C4303864","MESH:C565923","SNOMEDCT:720748007","medgen:347912"],"information_content":100.0}
{"id":"MONDO:0008853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Barber-Say syndrome","equivalent_identifiers":["MONDO:0008853","DOID:0060549","OMIM:209885","orphanet:1231","UMLS:C1319466","MESH:C537908","SNOMEDCT:408537003","medgen:230818","icd11.foundation:37248895"],"information_content":100.0}
{"id":"MONDO:0008854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 1","equivalent_identifiers":["MONDO:0008854","DOID:0110123","OMIM:209900","EFO:0009021","UMLS:C2936862","MESH:C537909","medgen:422452"],"information_content":100.0}
{"id":"MONDO:0008855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MHC class II deficiency","equivalent_identifiers":["MONDO:0008855","DOID:5812","OMIM.PS:209920","orphanet:572","UMLS:C0242583","UMLS:C5447452","MESH:C537079","NCIT:C176823","NCIT:C3895","SNOMEDCT:71904008","medgen:1781237","icd11.foundation:2021339495","ICD10:D81.6"],"information_content":88.2}
{"id":"MONDO:0008856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 27A","equivalent_identifiers":["MONDO:0008856","DOID:0111955","OMIM:209950","UMLS:C4011949","NCIT:C176806","SNOMEDCT:718230004","medgen:860386"],"information_content":100.0}
{"id":"MONDO:0008857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Beemer-Ertbruggen syndrome","equivalent_identifiers":["MONDO:0008857","OMIM:209970","orphanet:1237","UMLS:C1859526","MESH:C537668","SNOMEDCT:717859007","medgen:347174"],"information_content":100.0}
{"id":"MONDO:0008858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Behr syndrome","equivalent_identifiers":["MONDO:0008858","DOID:0111580","OMIM:210000","orphanet:1239","UMLS:C0221061","MESH:C537669","NCIT:C177251","SNOMEDCT:718221007","medgen:66358"],"information_content":100.0}
{"id":"MONDO:0008859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification","equivalent_identifiers":["MONDO:0008859","OMIM:210050","UMLS:C1859519","MESH:C565905","medgen:347170"],"information_content":100.0}
{"id":"MONDO:0008860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta-aminoisobutyric acid, urinary excretion of","equivalent_identifiers":["MONDO:0008860","OMIM:210100","UMLS:C1859518","MESH:C565904","SNOMEDCT:21529005","medgen:347169","HP:0032480"],"information_content":100.0}
{"id":"MONDO:0008861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylcrotonyl-CoA carboxylase 1 deficiency","equivalent_identifiers":["MONDO:0008861","DOID:0080579","OMIM:210200","UMLS:C0268600","MESH:C535308","medgen:78691"],"information_content":100.0}
{"id":"MONDO:0008862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylcrotonyl-CoA carboxylase 2 deficiency","equivalent_identifiers":["MONDO:0008862","DOID:0080580","OMIM:210210","UMLS:C1859499","MESH:C535309","medgen:347898"],"information_content":100.0}
{"id":"MONDO:0008863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sitosterolemia","equivalent_identifiers":["MONDO:0008863","DOID:0090019","OMIM.PS:210250","orphanet:2882","UMLS:C0342907","MESH:C537345","MEDDRA:10063985","MEDDRA:10063989","MEDDRA:10063990","MEDDRA:10063991","MEDDRA:10064629","MEDDRA:10064636","NCIT:C125694","SNOMEDCT:238104009","medgen:87466"],"information_content":92.8}
{"id":"MONDO:0008864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Biemond syndrome type 2","equivalent_identifiers":["MONDO:0008864","OMIM:210350","orphanet:141333","UMLS:C1859487","MESH:C565902","SNOMEDCT:717887003","medgen:347159"],"information_content":100.0}
{"id":"MONDO:0008865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bietti crystalline corneoretinal dystrophy","equivalent_identifiers":["MONDO:0008865","DOID:0050664","OMIM:210370","orphanet:41751","UMLS:C1859486","MESH:C535440","NCIT:C179299","SNOMEDCT:312927001","medgen:347895"],"information_content":100.0}
{"id":"MONDO:0008867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biliary atresia","equivalent_identifiers":["MONDO:0008867","DOID:13608","orphanet:30391","UMLS:C0005411","MESH:D001656","MEDDRA:10003650","MEDDRA:10004653","MEDDRA:10004654","NCIT:C34421","SNOMEDCT:77480004","medgen:14117","icd11.foundation:645741117","ICD10:Q44.2","ICD9:751.61","HP:0005912"],"information_content":87.2}
{"id":"MONDO:0008869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 1","equivalent_identifiers":["MONDO:0008869","DOID:0070007","OMIM:210600","UMLS:C4551474","MESH:C537533","medgen:1637056"],"information_content":100.0}
{"id":"MONDO:0008870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bird headed-dwarfism, Montreal type","equivalent_identifiers":["MONDO:0008870","OMIM:210700","orphanet:2617","UMLS:C1859468","MESH:C535448","SNOMEDCT:765758008","medgen:347890"],"information_content":100.0}
{"id":"MONDO:0008871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephalic osteodysplastic primordial dwarfism type I","equivalent_identifiers":["MONDO:0008871","DOID:0060608","OMIM:210710","UMLS:C1859452","MESH:C537577","SNOMEDCT:254102008","medgen:347149"],"information_content":100.0}
{"id":"MONDO:0008872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephalic osteodysplastic primordial dwarfism type II","equivalent_identifiers":["MONDO:0008872","DOID:0060609","OMIM:210720","orphanet:2637","UMLS:C0432246","MESH:C565898","SNOMEDCT:1208348002","SNOMEDCT:254103003","medgen:96587"],"information_content":100.0}
{"id":"MONDO:0008874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bangstad syndrome","equivalent_identifiers":["MONDO:0008874","OMIM:210740","orphanet:1227","UMLS:C0342284","MESH:C537902","SNOMEDCT:237614004","medgen:90978"],"information_content":100.0}
{"id":"MONDO:0008875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome","equivalent_identifiers":["MONDO:0008875","OMIM:210745","orphanet:2057","UMLS:C1859432","UMLS:C4303550","MESH:C536235","SNOMEDCT:717914000","medgen:347880"],"information_content":100.0}
{"id":"MONDO:0008876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bloom syndrome","equivalent_identifiers":["MONDO:0008876","DOID:2717","OMIM:210900","orphanet:125","UMLS:C0005859","UMLS:C4746755","MESH:D001816","MEDDRA:10073032","MEDDRA:10073038","NCIT:C2903","SNOMEDCT:4434006","medgen:2685","icd11.foundation:1838213890"],"information_content":92.8}
{"id":"MONDO:0008877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blue diaper syndrome","equivalent_identifiers":["MONDO:0008877","OMIM:211000","orphanet:94086","UMLS:C0268478","MESH:C536239","SNOMEDCT:59531002","medgen:75685","icd11.foundation:292681007"],"information_content":100.0}
{"id":"MONDO:0008878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone dysplasia, lethal Holmgren type","equivalent_identifiers":["MONDO:0008878","OMIM:211120","orphanet:1842","UMLS:C1859407","MESH:C565896","SNOMEDCT:732249002","medgen:347872"],"information_content":100.0}
{"id":"MONDO:0008879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bowen-Conradi syndrome","equivalent_identifiers":["MONDO:0008879","DOID:0050684","OMIM:211180","orphanet:1270","UMLS:C1859405","MESH:C537081","SNOMEDCT:711153001","medgen:349160","icd11.foundation:1713786719"],"information_content":100.0}
{"id":"MONDO:0008881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kyphomelic dysplasia","equivalent_identifiers":["MONDO:0008881","OMIM:211350","orphanet:1801","UMLS:C0432239","MESH:C538128","SNOMEDCT:254096001","medgen:140930","icd11.foundation:268821879"],"information_content":100.0}
{"id":"MONDO:0008883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly, type A2, with microcephaly","equivalent_identifiers":["MONDO:0008883","OMIM:211369","UMLS:C1859393","MESH:C565894","medgen:395250"],"information_content":100.0}
{"id":"MONDO:0008885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Elsahy-Waters syndrome","equivalent_identifiers":["MONDO:0008885","DOID:0080631","OMIM:211380","orphanet:1299","UMLS:C0809936","UMLS:C1863870","MESH:C537084","MESH:C566373","SNOMEDCT:719097002","medgen:923028"],"information_content":100.0}
{"id":"MONDO:0008886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sabinas brittle hair syndrome","equivalent_identifiers":["MONDO:0008886","DOID:0111874","OMIM:211390","UMLS:C0796271","MESH:C536320","SNOMEDCT:1003920007","medgen:163238","icd11.foundation:1722502589"],"information_content":100.0}
{"id":"MONDO:0008887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchiectasis with or without elevated sweat chloride 1","equivalent_identifiers":["MONDO:0008887","DOID:0080526","OMIM:211400","UMLS:C2749757","MESH:C567618","medgen:440868"],"information_content":100.0}
{"id":"MONDO:0008888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bronchomalacia","equivalent_identifiers":["MONDO:0008888","OMIM:211450","orphanet:411501","UMLS:C0264353","MESH:D055091","MEDDRA:10051901","MEDDRA:10053421","NCIT:C98847","SNOMEDCT:54203008","medgen:137939","icd11.foundation:766574679","HP:0002780"],"information_content":90.9}
{"id":"MONDO:0008889","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Buerger Disease","equivalent_identifiers":["MONDO:0008889","DOID:12918","OMIM:211480","orphanet:36258","EFO:1001211","UMLS:C0040021","MESH:D013919","MEDDRA:10006538","MEDDRA:10017722","MEDDRA:10043540","MEDDRA:10043541","NCIT:C35070","SNOMEDCT:195299000","SNOMEDCT:52403007","medgen:21531","icd11.foundation:1000683110","ICD10:I73.1","ICD9:443.1"],"information_content":100.0}
{"id":"MONDO:0008891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"riboflavin transporter deficiency","equivalent_identifiers":["MONDO:0008891","DOID:0050694","OMIM.PS:211530","orphanet:97229","UMLS:C4551777","MESH:C537111","MEDDRA:10084089","MEDDRA:10084093","SNOMEDCT:699866005","medgen:1634394"],"information_content":88.2}
{"id":"MONDO:0008892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive familial intrahepatic cholestasis type 1","equivalent_identifiers":["MONDO:0008892","DOID:0070226","OMIM:211600","orphanet:79306","UMLS:C4551898","MESH:C535933","MEDDRA:10089174","SNOMEDCT:1155913007","medgen:1645830","icd11.foundation:1414850183"],"information_content":100.0}
{"id":"MONDO:0008893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C syndrome","equivalent_identifiers":["MONDO:0008893","DOID:0111581","OMIM:211750","orphanet:1308","UMLS:C0796095","MESH:C537418","MEDDRA:10083975","MEDDRA:10083976","SNOMEDCT:715409005","medgen:167105","icd11.foundation:1482041278"],"information_content":100.0}
{"id":"MONDO:0008894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAHMR syndrome","equivalent_identifiers":["MONDO:0008894","OMIM:211770","orphanet:1375","UMLS:C0796282","MESH:C537959","SNOMEDCT:722379001","medgen:167117"],"information_content":100.0}
{"id":"MONDO:0008895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary arterial and articular multiple calcification syndrome","equivalent_identifiers":["MONDO:0008895","DOID:0111582","OMIM:211800","orphanet:289601","UMLS:C1859372","MESH:C565891","NCIT:C201591","SNOMEDCT:718602007","medgen:347132"],"information_content":100.0}
{"id":"MONDO:0008896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"campomelia, Cumming type","equivalent_identifiers":["MONDO:0008896","OMIM:211890","orphanet:1318","UMLS:C1859371","MESH:C537966","SNOMEDCT:720599002","medgen:347864","icd11.foundation:152223075"],"information_content":100.0}
{"id":"MONDO:0008898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"camptodactyly syndrome, Guadalajara type 1","equivalent_identifiers":["MONDO:0008898","OMIM:211910","orphanet:1327","UMLS:C1859359","MESH:C537970","SNOMEDCT:720602007","medgen:395241"],"information_content":100.0}
{"id":"MONDO:0008899","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"camptodactyly syndrome, Guadalajara type 2","equivalent_identifiers":["MONDO:0008899","OMIM:211920","orphanet:1326","UMLS:C2931680","MESH:C537971","MESH:C567138","SNOMEDCT:720603002","medgen:419870"],"information_content":100.0}
{"id":"MONDO:0008901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tel Hashomer camptodactyly syndrome","equivalent_identifiers":["MONDO:0008901","OMIM:211960","orphanet:3292","UMLS:C1859356","MESH:C536953","SNOMEDCT:719946008","medgen:347860"],"information_content":100.0}
{"id":"MONDO:0008903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung cancer","equivalent_identifiers":["MONDO:0008903","DOID:1324","OMIM:211980","UMLS:C0024624","UMLS:C0153491","UMLS:C0153492","UMLS:C0153493","UMLS:C0242379","UMLS:C1968897","MEDDRA:10007096","MEDDRA:10025044","MEDDRA:10025056","MEDDRA:10058467","NCIT:C194105","NCIT:C7377","SNOMEDCT:269464000","SNOMEDCT:363358000","medgen:66885","ICD10:C34.1","ICD10:C34.2","ICD10:C34.3","ICD9:162.3","ICD9:162.4","ICD9:162.5","ICD9:162.8"],"information_content":58.9}
{"id":"MONDO:0008904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"camptomelic syndrome, long-limb type","equivalent_identifiers":["MONDO:0008904","OMIM:211990","UMLS:C1859354","MESH:C537977","medgen:347129"],"information_content":100.0}
{"id":"MONDO:0008905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"predisposition to invasive fungal disease due to CARD9 deficiency","equivalent_identifiers":["MONDO:0008905","OMIM:212050","orphanet:457088","UMLS:C1859353","MESH:C537979","MEDDRA:10083959","SNOMEDCT:1186719000","medgen:347128"],"information_content":100.0}
{"id":"MONDO:0008907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PMM2-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0008907","DOID:0080552","OMIM:212065","orphanet:79318","UMLS:C0349653","MESH:C535739","NCIT:C126868","SNOMEDCT:277893002","SNOMEDCT:459063003","medgen:138111"],"information_content":100.0}
{"id":"MONDO:0008908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MGAT2-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0008908","DOID:0070253","OMIM:212066","orphanet:79329","UMLS:C2931008","MESH:C535752","SNOMEDCT:277894008","SNOMEDCT:724142005","medgen:443956"],"information_content":100.0}
{"id":"MONDO:0008909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type i/IIx","equivalent_identifiers":["MONDO:0008909","OMIM:212067","UMLS:C0349655","MESH:C562844","SNOMEDCT:277895009","medgen:91162"],"information_content":100.0}
{"id":"MONDO:0008910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carboxypeptidase N deficiency","equivalent_identifiers":["MONDO:0008910","DOID:0111583","OMIM:212070","UMLS:C0398782","MESH:C562876","NCIT:C132196","SNOMEDCT:124493003","SNOMEDCT:234627009","medgen:98312"],"information_content":100.0}
{"id":"MONDO:0008911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac lipidosis, familial","equivalent_identifiers":["MONDO:0008911","OMIM:212080","UMLS:C1859332","MESH:C565884","medgen:395234"],"information_content":100.0}
{"id":"MONDO:0008912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac septal defects with coarctation of the aorta","equivalent_identifiers":["MONDO:0008912","OMIM:212090","UMLS:C1859331","MESH:C565883","medgen:347855"],"information_content":100.0}
{"id":"MONDO:0008913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac valvular defect, developmental","equivalent_identifiers":["MONDO:0008913","DOID:0080633","OMIM:212093","UMLS:C1859330","UMLS:C5774175","MESH:C565882","medgen:1823949"],"information_content":100.0}
{"id":"MONDO:0008914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardioauditory syndrome of Sanchez Cascos","equivalent_identifiers":["MONDO:0008914","OMIM:212100","UMLS:C1859329","MESH:C535577","medgen:395233"],"information_content":100.0}
{"id":"MONDO:0008915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Malouf syndrome","equivalent_identifiers":["MONDO:0008915","DOID:0111584","OMIM:212112","orphanet:2229","UMLS:C0796031","UMLS:C0796083","MESH:C535580","MESH:C535703","NCIT:C174217","SNOMEDCT:719451006","medgen:162901"],"information_content":100.0}
{"id":"MONDO:0008916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy associated with myopathy and sudden death","equivalent_identifiers":["MONDO:0008916","OMIM:212130","UMLS:C1859328","MESH:C565881","medgen:395232"],"information_content":100.0}
{"id":"MONDO:0008917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart defects-limb shortening syndrome","equivalent_identifiers":["MONDO:0008917","OMIM:212135","orphanet:1354","UMLS:C1859327","MESH:C535850","SNOMEDCT:721009008","medgen:349142"],"information_content":100.0}
{"id":"MONDO:0008918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carnitine-acylcarnitine translocase deficiency","equivalent_identifiers":["MONDO:0008918","DOID:0111585","OMIM:212138","orphanet:159","UMLS:C0342791","MESH:C562812","MEDDRA:10078729","NCIT:C133086","SNOMEDCT:238003000","medgen:91000","icd11.foundation:677949122"],"information_content":100.0}
{"id":"MONDO:0008919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic primary carnitine deficiency disease","equivalent_identifiers":["MONDO:0008919","DOID:14365","OMIM:212140","orphanet:158","UMLS:C0342788","MESH:C536778","MEDDRA:10088267","NCIT:C98864","SNOMEDCT:21764004","medgen:90999","ICD10:E71.41","ICD9:277.81"],"information_content":100.0}
{"id":"MONDO:0008920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carnitine deficiency, myopathic","equivalent_identifiers":["MONDO:0008920","OMIM:212160","UMLS:C1859318","MESH:C536100","medgen:347852"],"information_content":100.0}
{"id":"MONDO:0008921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carnosinemia","equivalent_identifiers":["MONDO:0008921","OMIM:212200","orphanet:1361","UMLS:C3495555","UMLS:C5700357","NCIT:C125661","SNOMEDCT:360943000","SNOMEDCT:410052008","medgen:501203"],"information_content":100.0}
{"id":"MONDO:0008922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sengers syndrome","equivalent_identifiers":["MONDO:0008922","DOID:0080132","OMIM:212350","orphanet:1369","UMLS:C1859317","MESH:C538280","SNOMEDCT:717812000","medgen:395228"],"information_content":100.0}
{"id":"MONDO:0008923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive palmoplantar keratoderma and congenital alopecia","equivalent_identifiers":["MONDO:0008923","DOID:0111245","OMIM:212360","orphanet:1366","UMLS:C1859316","MESH:C535336","medgen:347851","icd11.foundation:1733151457"],"information_content":100.0}
{"id":"MONDO:0008924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital cataract-ichthyosis syndrome","equivalent_identifiers":["MONDO:0008924","OMIM:212400","UMLS:C1859315","MESH:C538281","medgen:347122"],"information_content":100.0}
{"id":"MONDO:0008925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 46 juvenile-onset","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0008925","DOID:0110243","OMIM:212500","UMLS:C0220721","UMLS:C2931791","MESH:C538286","SNOMEDCT:1003424006","medgen:113102"],"information_content":100.0}
{"id":"MONDO:0008926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COFS syndrome","equivalent_identifiers":["MONDO:0008926","DOID:0080910","OMIM.PS:214150","orphanet:1466","UMLS:C5399761","NCIT:C3817","SNOMEDCT:41283003","medgen:1762238"],"information_content":85.5}
{"id":"MONDO:0008927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","equivalent_identifiers":["MONDO:0008927","DOID:0080635","OMIM:212550","orphanet:435930","UMLS:C1859311","UMLS:C4225424","MESH:C565876","SNOMEDCT:1197357008","medgen:894574"],"information_content":100.0}
{"id":"MONDO:0008928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract-ataxia-deafness syndrome","equivalent_identifiers":["MONDO:0008928","OMIM:212710","orphanet:1368","UMLS:C0796123","MESH:C538283","medgen:163216"],"information_content":100.0}
{"id":"MONDO:0008930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"celiac disease, susceptibility to, 1","equivalent_identifiers":["MONDO:0008930","OMIM:212750","UMLS:C1859310","medgen:395227"],"information_content":100.0}
{"id":"MONDO:0008931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cenani-Lenz syndactyly syndrome","equivalent_identifiers":["MONDO:0008931","DOID:0060221","DOID:0090015","OMIM:212780","orphanet:3258","UMLS:C1859309","MESH:C538150","SNOMEDCT:720633009","medgen:395226","ICD10:Q78.4"],"information_content":100.0}
{"id":"MONDO:0008932","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature centromere division","equivalent_identifiers":["MONDO:0008932","OMIM:212790","UMLS:C1859308","medgen:349138"],"information_content":100.0}
{"id":"MONDO:0008933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cephalin lipidosis","equivalent_identifiers":["MONDO:0008933","OMIM:212800","UMLS:C1859307","MESH:C565872","medgen:395225"],"information_content":100.0}
{"id":"MONDO:0008934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar ataxia-ectodermal dysplasia syndrome","equivalent_identifiers":["MONDO:0008934","OMIM:212835","orphanet:1174","UMLS:C1859306","MESH:C535350","SNOMEDCT:715371006","medgen:347850"],"information_content":100.0}
{"id":"MONDO:0008935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar ataxia-hypogonadism syndrome","equivalent_identifiers":["MONDO:0008935","DOID:0111587","OMIM:212840","orphanet:1173","UMLS:C1859305","MESH:C565870","SNOMEDCT:230240004","medgen:349137"],"information_content":95.4}
{"id":"MONDO:0008936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar ataxia and neurosensory deafness","equivalent_identifiers":["MONDO:0008936","OMIM:212850","UMLS:C1859304","MESH:C565869","medgen:395224"],"information_content":100.0}
{"id":"MONDO:0008937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar ataxia, benign, with thermoanalgesia","equivalent_identifiers":["MONDO:0008937","OMIM:212890","UMLS:C1859303","MESH:C565868","medgen:349136"],"information_content":100.0}
{"id":"MONDO:0008938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Harding ataxia","equivalent_identifiers":["MONDO:0008938","OMIM:212895","orphanet:1177","UMLS:C0393520","MESH:C535633","SNOMEDCT:230228004","medgen:140726"],"information_content":100.0}
{"id":"MONDO:0008939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated cerebellar hypoplasia/agenesis","equivalent_identifiers":["MONDO:0008939","DOID:0070338","OMIM:213000","orphanet:1398","UMLS:C0266470","UMLS:C5231391","MESH:C562568","MEDDRA:10008033","MEDDRA:10021070","NCIT:C98890","SNOMEDCT:16026008","medgen:1695950","HP:0001321"],"information_content":86.3}
{"id":"MONDO:0008941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatic fibrosis-renal cysts-intellectual disability syndrome","equivalent_identifiers":["MONDO:0008941","OMIM:213010","orphanet:2031","UMLS:C1859300","MESH:C565867","medgen:347120"],"information_content":100.0}
{"id":"MONDO:0008943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spinocerebellar ataxia 2","equivalent_identifiers":["MONDO:0008943","DOID:0080061","OMIM:213200","orphanet:1170","UMLS:C1859298","MESH:C565865","SNOMEDCT:715369006","medgen:349134"],"information_content":100.0}
{"id":"MONDO:0008944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 1","equivalent_identifiers":["MONDO:0008944","DOID:0110980","OMIM:213300","UMLS:C4551568","medgen:1644883"],"information_content":100.0}
{"id":"MONDO:0008945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonic cerebellar dyssynergia","equivalent_identifiers":["MONDO:0008945","DOID:12707","OMIM:213400","EFO:1001053","UMLS:C0007761","UMLS:C3489626","MESH:D002527","SNOMEDCT:192871008","SNOMEDCT:41009006","SNOMEDCT:73495003","medgen:483579"],"information_content":100.0}
{"id":"MONDO:0008946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral angiopathy, dysphoric","equivalent_identifiers":["MONDO:0008946","OMIM:213500","UMLS:C1859283","MESH:C565864","medgen:349128"],"information_content":100.0}
{"id":"MONDO:0008947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fahr's disease","equivalent_identifiers":["MONDO:0008947","DOID:0060230","OMIM.PS:213600","orphanet:1980","UMLS:C0393589","UMLS:C0393590","MESH:C536275","MEDDRA:10059626","SNOMEDCT:110997000","SNOMEDCT:230311004","icd11.foundation:1081370436"],"information_content":84.8}
{"id":"MONDO:0008948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebrotendinous xanthomatosis","equivalent_identifiers":["MONDO:0008948","DOID:4810","OMIM:213700","orphanet:909","UMLS:C0238052","MESH:D019294","NCIT:C84628","SNOMEDCT:63246000","medgen:116041","icd11.foundation:1556875179"],"information_content":100.0}
{"id":"MONDO:0008950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral sclerosis similar to Pelizaeus-Merzbacher disease","equivalent_identifiers":["MONDO:0008950","OMIM:213900","UMLS:C1859258","MESH:C536318","medgen:395210"],"information_content":100.0}
{"id":"MONDO:0008953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroxisome biogenesis disorder 1A (Zellweger)","equivalent_identifiers":["MONDO:0008953","DOID:0080476","OMIM:214100","UMLS:C1865803","UMLS:C1865804","UMLS:C4721541","MESH:C566568","MESH:C566569","NCIT:C155748","medgen:1648474"],"information_content":100.0}
{"id":"MONDO:0008954","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroxisome biogenesis disorder 2A (Zellweger)","equivalent_identifiers":["MONDO:0008954","DOID:0080477","OMIM:214110","UMLS:C3550273","NCIT:C155750","medgen:763187"],"information_content":100.0}
{"id":"MONDO:0008955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebrooculofacioskeletal syndrome 1","equivalent_identifiers":["MONDO:0008955","DOID:0080911","OMIM:214150","UMLS:C0220722","MESH:C562434","NCIT:C173085","medgen:66320"],"information_content":100.0}
{"id":"MONDO:0008957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical vertebrae, agenesis of","equivalent_identifiers":["MONDO:0008957","OMIM:214290","UMLS:C0432160","MESH:C562952","SNOMEDCT:1163556006","SNOMEDCT:91880006","medgen:140922","HP:0008459"],"information_content":100.0}
{"id":"MONDO:0008958","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Klippel-Feil syndrome 2, autosomal recessive","equivalent_identifiers":["MONDO:0008958","DOID:0080590","OMIM:214300","UMLS:C1859209","MESH:C536888","medgen:395201"],"information_content":100.0}
{"id":"MONDO:0008959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CHAND syndrome","equivalent_identifiers":["MONDO:0008959","OMIM:214350","orphanet:1401","UMLS:C0406733","MESH:C538074","SNOMEDCT:239037001","medgen:98035"],"information_content":100.0}
{"id":"MONDO:0008960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome","equivalent_identifiers":["MONDO:0008960","OMIM:214370","orphanet:90103","UMLS:C1861669","MESH:C538078","SNOMEDCT:715666007","medgen:348419"],"information_content":100.0}
{"id":"MONDO:0008961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4A","equivalent_identifiers":["MONDO:0008961","DOID:0110185","OMIM:214400","orphanet:99948","UMLS:C1859198","MESH:C535419","SNOMEDCT:715796006","medgen:347821","icd11.foundation:1476665103"],"information_content":100.0}
{"id":"MONDO:0008962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Griscelli syndrome type 1","equivalent_identifiers":["MONDO:0008962","DOID:0060832","OMIM:214450","orphanet:79476","UMLS:C1859194","MESH:C537301","SNOMEDCT:1254946006","medgen:347092","icd11.foundation:875700770"],"information_content":100.0}
{"id":"MONDO:0008963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chediak-Higashi syndrome","equivalent_identifiers":["MONDO:0008963","DOID:2935","OMIM:214500","orphanet:167","UMLS:C0007965","MESH:D002609","MEDDRA:10004202","MEDDRA:10008415","NCIT:C2941","SNOMEDCT:111396008","medgen:3347","ICD10:E70.330"],"information_content":90.9}
{"id":"MONDO:0008964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital secretory chloride diarrhea 1","equivalent_identifiers":["MONDO:0008964","DOID:0060296","OMIM:214700","orphanet:53689","UMLS:C0267662","MESH:C536210","SNOMEDCT:24412005","medgen:78631"],"information_content":100.0}
{"id":"MONDO:0008965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CHARGE syndrome","equivalent_identifiers":["MONDO:0008965","DOID:0050834","OMIM:214800","orphanet:138","UMLS:C0265354","UMLS:C2936502","MESH:D058747","MEDDRA:10064063","NCIT:C75100","SNOMEDCT:47535005","medgen:75567","icd11.foundation:52086532"],"information_content":100.0}
{"id":"MONDO:0008966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aagenaes syndrome","equivalent_identifiers":["MONDO:0008966","DOID:6691","OMIM:214900","orphanet:1414","UMLS:C0268314","MESH:C535330","NCIT:C35709","SNOMEDCT:28724005","medgen:78658"],"information_content":100.0}
{"id":"MONDO:0008967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bile acid synthesis defect 4","equivalent_identifiers":["MONDO:0008967","DOID:0111068","OMIM:214950","orphanet:79095","UMLS:C1858328","MESH:C535444","medgen:388039"],"information_content":100.0}
{"id":"MONDO:0008970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrodysplasia Blomstrand type","equivalent_identifiers":["MONDO:0008970","DOID:0060387","OMIM:215045","orphanet:50945","UMLS:C1859148","MESH:C537914","NCIT:C131420","medgen:395189"],"information_content":100.0}
{"id":"MONDO:0008971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrodysplasia calcificans Metaphysealis","equivalent_identifiers":["MONDO:0008971","OMIM:215050","UMLS:C1859147","MESH:C565855","medgen:347809"],"information_content":100.0}
{"id":"MONDO:0008972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhizomelic chondrodysplasia punctata type 1","equivalent_identifiers":["MONDO:0008972","DOID:0110851","OMIM:215100","orphanet:309789","UMLS:C1859133","MESH:C531651","SNOMEDCT:1003862001","medgen:347072","icd11.foundation:44503513"],"information_content":100.0}
{"id":"MONDO:0008974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HEM dysplasia","equivalent_identifiers":["MONDO:0008974","DOID:0111588","OMIM:215140","orphanet:1426","UMLS:C2931048","MESH:C535858","SNOMEDCT:389261002","medgen:418969","icd11.foundation:1858458540"],"information_content":100.0}
{"id":"MONDO:0008975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otospondylomegaepiphyseal dysplasia","equivalent_identifiers":["MONDO:0008975","DOID:0080026","OMIM.PS:184840","orphanet:1427","UMLS:C4520892","MEDDRA:10084407","SNOMEDCT:254060000","medgen:1617409","icd11.foundation:1885284987"],"information_content":92.8}
{"id":"MONDO:0008976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome","equivalent_identifiers":["MONDO:0008976","OMIM:215250","UMLS:C1859104","MESH:C565852","medgen:349095"],"information_content":100.0}
{"id":"MONDO:0008977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrosarcoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0008977","DOID:3371","OMIM:215300","orphanet:55880","EFO:0000333","EFO:0010832","UMLS:C0008479","UMLS:C1335473","MESH:D002813","MEDDRA:10008726","MEDDRA:10008734","MEDDRA:10008737","NCIT:C2946","NCIT:C7155","SNOMEDCT:1163016002","SNOMEDCT:14990007","SNOMEDCT:443520009","SNOMEDCT:735679005","medgen:3054","HP:0006765"],"information_content":73.1}
{"id":"MONDO:0008978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chordoma","equivalent_identifiers":["MONDO:0008978","DOID:3302","OMIM:215400","orphanet:178","UMLS:C0008487","UMLS:C5441694","MESH:D002817","MEDDRA:10008747","NCIT:C2947","SNOMEDCT:1156453008","SNOMEDCT:50007008","medgen:40277","icd11.foundation:898231522","HP:0010762"],"information_content":77.6}
{"id":"MONDO:0008979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chorea, benign familial","equivalent_identifiers":["MONDO:0008979","OMIM:215450","UMLS:C1859098","MESH:C565851","medgen:347799"],"information_content":100.0}
{"id":"MONDO:0008980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia-hypogonadism-choroidal dystrophy syndrome","equivalent_identifiers":["MONDO:0008980","DOID:0111265","OMIM:215470","orphanet:1180","UMLS:C1859093","MESH:C565850","SNOMEDCT:715984007","medgen:347798"],"information_content":100.0}
{"id":"MONDO:0008981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile choroidocerebral calcification syndrome","equivalent_identifiers":["MONDO:0008981","OMIM:215480","orphanet:1313","UMLS:C1859092","MESH:C535357","SNOMEDCT:724228005","medgen:395174"],"information_content":100.0}
{"id":"MONDO:0008982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central areolar choroidal dystrophy","equivalent_identifiers":["MONDO:0008982","OMIM.PS:215500","orphanet:75377","UMLS:C0730291","UMLS:C1536451","MEDDRA:10008785","SNOMEDCT:231996009","SNOMEDCT:312918002","medgen:283932","icd11.foundation:2018537024"],"information_content":88.2}
{"id":"MONDO:0008984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary discoordination due to random ciliary orientation","equivalent_identifiers":["MONDO:0008984","OMIM:215518","UMLS:C0340038","MESH:C562757","SNOMEDCT:233667003","medgen:83299"],"information_content":100.0}
{"id":"MONDO:0008985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary dyskinesia with transposition of ciliary microtubules","equivalent_identifiers":["MONDO:0008985","OMIM:215520","UMLS:C2673817","MESH:C567137","medgen:388736"],"information_content":100.0}
{"id":"MONDO:0008986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"circumvallate placenta syndrome","equivalent_identifiers":["MONDO:0008986","OMIM:215550","UMLS:C1859089","MESH:C565847","medgen:347062"],"information_content":100.0}
{"id":"MONDO:0008988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"citrullinemia type I","equivalent_identifiers":["MONDO:0008988","DOID:0070340","OMIM:215700","orphanet:247525","UMLS:C4721769","MEDDRA:10079142","MEDDRA:10079143","NCIT:C150601","SNOMEDCT:1149103000","SNOMEDCT:398680004","medgen:1648491"],"information_content":92.8}
{"id":"MONDO:0008989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"citrulline transport defect","equivalent_identifiers":["MONDO:0008989","OMIM:215720","UMLS:C1859084","MESH:C536207","medgen:349092"],"information_content":100.0}
{"id":"MONDO:0008990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Novak syndrome","equivalent_identifiers":["MONDO:0008990","OMIM:215800","UMLS:C0858233","UMLS:C1859083","MESH:C537851","MESH:C563163","MEDDRA:10010638","medgen:349091"],"information_content":100.0}
{"id":"MONDO:0008991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Verloove Vanhorick-Brubakk syndrome","equivalent_identifiers":["MONDO:0008991","OMIM:215850","orphanet:3429","UMLS:C1859082","MESH:C536541","SNOMEDCT:764697003","medgen:395171"],"information_content":100.0}
{"id":"MONDO:0008992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Juberg-Hayward syndrome","equivalent_identifiers":["MONDO:0008992","OMIM:216100","orphanet:2319","UMLS:C0796099","MESH:C537690","SNOMEDCT:721874001","medgen:162906","icd11.foundation:395922030"],"information_content":100.0}
{"id":"MONDO:0008993","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft palate-stapes fixation-oligodontia syndrome","equivalent_identifiers":["MONDO:0008993","OMIM:216300","orphanet:2010","UMLS:C1859081","MESH:C565844","medgen:347795"],"information_content":100.0}
{"id":"MONDO:0008994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleidocranial dysplasia, recessive form","equivalent_identifiers":["MONDO:0008994","OMIM:216330","UMLS:C1859080","MESH:C565843","medgen:395170"],"information_content":100.0}
{"id":"MONDO:0008995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Yunis-Varon syndrome","equivalent_identifiers":["MONDO:0008995","DOID:0060589","OMIM:216340","orphanet:3472","UMLS:C1857663","MESH:C536719","MEDDRA:10082255","medgen:341818","icd11.foundation:1696991249"],"information_content":100.0}
{"id":"MONDO:0008998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cockayne syndrome type 3","equivalent_identifiers":["MONDO:0008998","orphanet:90324","UMLS:C0751037","SNOMEDCT:890432001","medgen:196713","icd11.foundation:1401163130"],"information_content":100.0}
{"id":"MONDO:0008999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cohen syndrome","equivalent_identifiers":["MONDO:0008999","DOID:0111590","OMIM:216550","orphanet:193","UMLS:C0265223","MESH:C536438","MEDDRA:10049066","SNOMEDCT:56604005","medgen:78539","icd11.foundation:1188737383"],"information_content":100.0}
{"id":"MONDO:0009000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial reactive perforating collagenosis","equivalent_identifiers":["MONDO:0009000","OMIM:216700","orphanet:79147","UMLS:C1857624","MESH:C565687","medgen:347504","icd11.foundation:563155724"],"information_content":100.0}
{"id":"MONDO:0009001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular coloboma-cleft palate-hallux valgus syndrome","equivalent_identifiers":["MONDO:0009001","OMIM:216800","orphanet:91494","UMLS:C1857619","UMLS:C4302525","MESH:C565686","SNOMEDCT:722463001","medgen:341812"],"information_content":100.0}
{"id":"MONDO:0009002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma, ocular, autosomal recessive","equivalent_identifiers":["MONDO:0009002","OMIM:216820","UMLS:C4011974","medgen:860411"],"information_content":100.0}
{"id":"MONDO:0009003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achromatopsia 2","equivalent_identifiers":["MONDO:0009003","DOID:0110007","OMIM:216900","UMLS:C1857618","UMLS:C5201048","MESH:C536128","MEDDRA:10055511","NCIT:C168757","SNOMEDCT:56852002","SNOMEDCT:789675009","medgen:387867","HP:0007803"],"information_content":90.9}
{"id":"MONDO:0009005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement component C1r/C1s deficiency","equivalent_identifiers":["MONDO:0009005","OMIM:216950","UMLS:C3150274","NCIT:C119991","medgen:461624","icd11.foundation:448435460"],"information_content":100.0}
{"id":"MONDO:0009006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C2 Deficiency","equivalent_identifiers":["MONDO:0009006","DOID:0060295","OMIM:217000","UMLS:C3150275","NCIT:C119992","medgen:461625","ICD10:D84.1"],"information_content":95.4}
{"id":"MONDO:0009007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jalili syndrome","equivalent_identifiers":["MONDO:0009007","DOID:0111404","OMIM:217080","orphanet:1873","UMLS:C3495589","MESH:C000596385","SNOMEDCT:707608003","medgen:501210"],"information_content":100.0}
{"id":"MONDO:0009008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart defect - tongue hamartoma - polysyndactyly syndrome","equivalent_identifiers":["MONDO:0009008","DOID:0111591","OMIM:217085","orphanet:1338","UMLS:C1857587","UMLS:C2931046","MESH:C535849","MESH:C537137","SNOMEDCT:783738002","medgen:341804"],"information_content":100.0}
{"id":"MONDO:0009009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoplasminogenemia","equivalent_identifiers":["MONDO:0009009","DOID:0111592","OMIM:217090","orphanet:722","UMLS:C0398621","UMLS:C1968804","MESH:C566897","MESH:C580017","SNOMEDCT:95840007","SNOMEDCT:95844003","medgen:369859","icd11.foundation:1240776230","ICD10:E88.02"],"information_content":100.0}
{"id":"MONDO:0009010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic arch interruption","equivalent_identifiers":["MONDO:0009010","orphanet:2299","UMLS:C0152419","UMLS:C3164271","MEDDRA:10022599","NCIT:C98958","SNOMEDCT:447817009","medgen:57773","icd11.foundation:1769930414","HP:0011611"],"information_content":90.9}
{"id":"MONDO:0009012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple pterygium-malignant hyperthermia syndrome","equivalent_identifiers":["MONDO:0009012","OMIM:217150","orphanet:2215","UMLS:C1857576","MESH:C565679","medgen:347490"],"information_content":100.0}
{"id":"MONDO:0009013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"convulsive disorder, familial, with prenatal or early onset","equivalent_identifiers":["MONDO:0009013","OMIM:217200","UMLS:C1857575","MESH:C565678","medgen:387859"],"information_content":100.0}
{"id":"MONDO:0009014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cornea plana 2","equivalent_identifiers":["MONDO:0009014","OMIM:217300","UMLS:C1857574","MESH:C565677","medgen:346616"],"information_content":100.0}
{"id":"MONDO:0009015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal dystrophy-perceptive deafness syndrome","equivalent_identifiers":["MONDO:0009015","DOID:0111620","OMIM:217400","orphanet:1490","UMLS:C1857572","MESH:C535473","SNOMEDCT:720749004","medgen:387858"],"information_content":100.0}
{"id":"MONDO:0009016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"band keratopathy","equivalent_identifiers":["MONDO:0009016","DOID:11164","OMIM:217500","UMLS:C0155120","MESH:C562399","MEDDRA:10004086","MEDDRA:10004088","MEDDRA:10023366","NCIT:C118765","SNOMEDCT:35055000","medgen:56354","icd11.foundation:184627034","ICD10:H18.42","ICD9:371.43","HP:0007709"],"information_content":100.0}
{"id":"MONDO:0009018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central cloudy dystrophy of François","equivalent_identifiers":["MONDO:0009018","OMIM:217600","orphanet:98972","UMLS:C1622427","MESH:C563262","SNOMEDCT:419074008","medgen:302006"],"information_content":100.0}
{"id":"MONDO:0009019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital hereditary endothelial dystrophy of cornea","equivalent_identifiers":["MONDO:0009019","DOID:0060649","OMIM:217700","orphanet:293603","UMLS:C1857569","MESH:C536439","SNOMEDCT:417395001","medgen:387857"],"information_content":100.0}
{"id":"MONDO:0009020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular corneal dystrophy","equivalent_identifiers":["MONDO:0009020","DOID:2565","OMIM:217800","orphanet:98969","UMLS:C0024439","UMLS:C1636149","UMLS:C1691013","MESH:C537834","MESH:C563270","MEDDRA:10025406","NCIT:C34793","SNOMEDCT:418054005","SNOMEDCT:418435001","SNOMEDCT:60258001","medgen:351514","icd11.foundation:791344343","ICD10:H18.55","ICD9:371.55"],"information_content":95.4}
{"id":"MONDO:0009021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Toriello-Carey syndrome","equivalent_identifiers":["MONDO:0009021","OMIM:217980","orphanet:3338","UMLS:C0796184","MESH:C563127","SNOMEDCT:722477003","medgen:163225","icd11.foundation:147297969"],"information_content":100.0}
{"id":"MONDO:0009022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corpus callosum, agenesis of","equivalent_identifiers":["MONDO:0009022","OMIM:217990","orphanet:200","UMLS:C0175754","MESH:D061085","MEDDRA:10063756","NCIT:C98905","SNOMEDCT:5102002","medgen:104498","HP:0001274"],"information_content":89.4}
{"id":"MONDO:0009024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortical blindness-intellectual disability-polydactyly syndrome","equivalent_identifiers":["MONDO:0009024","OMIM:218010","orphanet:1389","UMLS:C1857568","MESH:C565674","medgen:347487"],"information_content":100.0}
{"id":"MONDO:0009025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"apparent mineralocorticoid excess","equivalent_identifiers":["MONDO:0009025","DOID:4367","OMIM:218030","orphanet:320","EFO:1000817","UMLS:C0342488","UMLS:C5575027","MESH:C537422","MESH:D043204","MEDDRA:10080229","NCIT:C123231","NCIT:C131083","SNOMEDCT:237770005","SNOMEDCT:703256004","medgen:90983","icd11.foundation:1737310323"],"information_content":100.0}
{"id":"MONDO:0009026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Costello syndrome","equivalent_identifiers":["MONDO:0009026","DOID:0050469","OMIM:218040","orphanet:3071","UMLS:C0587248","MESH:D056685","MEDDRA:10067380","NCIT:C84652","SNOMEDCT:309776008","medgen:108454","icd11.foundation:1946512039"],"information_content":92.8}
{"id":"MONDO:0009027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cramps, familial adolescent","equivalent_identifiers":["MONDO:0009027","OMIM:218050","UMLS:C1857533","medgen:347475"],"information_content":100.0}
{"id":"MONDO:0009028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crane-Heise syndrome","equivalent_identifiers":["MONDO:0009028","OMIM:218090","orphanet:1512","UMLS:C1857532","MESH:C536452","SNOMEDCT:715991005","medgen:387847"],"information_content":100.0}
{"id":"MONDO:0009029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranial nerves, congenital paresis of","equivalent_identifiers":["MONDO:0009029","OMIM:218100","UMLS:C1857531","MESH:C565673","medgen:346609"],"information_content":100.0}
{"id":"MONDO:0009030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranial nerves, recurrent paresis of","equivalent_identifiers":["MONDO:0009030","OMIM:218200","UMLS:C1857530","MESH:C565672","medgen:387846"],"information_content":100.0}
{"id":"MONDO:0009031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniodiaphyseal dysplasia","equivalent_identifiers":["MONDO:0009031","DOID:0080032","OMIM:218300","orphanet:1513","UMLS:C0410539","MESH:C562940","NCIT:C131429","SNOMEDCT:205506004","medgen:96080","icd11.foundation:505073582"],"information_content":100.0}
{"id":"MONDO:0009032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranioectodermal dysplasia","equivalent_identifiers":["MONDO:0009032","DOID:0050577","OMIM.PS:218330","orphanet:1515","UMLS:C4551571","MEDDRA:10089188","MEDDRA:10089189","NCIT:C129305","SNOMEDCT:254093009","medgen:1641011","icd11.foundation:1588881145"],"information_content":87.2}
{"id":"MONDO:0009033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"temtamy syndrome","equivalent_identifiers":["MONDO:0009033","DOID:0111621","OMIM:218340","orphanet:1777","UMLS:C1857512","MESH:C536959","NCIT:C148371","SNOMEDCT:719947004","medgen:347474"],"information_content":100.0}
{"id":"MONDO:0009034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofacial dyssynostosis","equivalent_identifiers":["MONDO:0009034","OMIM:218350","orphanet:1516","UMLS:C1857511","MESH:C536455","medgen:347473"],"information_content":100.0}
{"id":"MONDO:0009035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniometaphyseal dysplasia, autosomal recessive","equivalent_identifiers":["MONDO:0009035","DOID:0080802","OMIM:218400","UMLS:C2931244","MESH:C536570","medgen:419753"],"information_content":100.0}
{"id":"MONDO:0009036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiocranial syndrome, Pfeiffer type","equivalent_identifiers":["MONDO:0009036","OMIM:218450","orphanet:2872","UMLS:C1857495","MESH:C535578","SNOMEDCT:720606005","medgen:346598","icd11.foundation:629231429"],"information_content":100.0}
{"id":"MONDO:0009038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis-fibular aplasia syndrome","equivalent_identifiers":["MONDO:0009038","OMIM:218550","UMLS:C1857492","UMLS:C4517333","MESH:C565665","SNOMEDCT:732250002","medgen:347468"],"information_content":100.0}
{"id":"MONDO:0009039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Baller-Gerold syndrome","equivalent_identifiers":["MONDO:0009039","DOID:0050654","OMIM:218600","orphanet:1225","UMLS:C0265308","MESH:C536788","MEDDRA:10083963","SNOMEDCT:77608001","medgen:120532","icd11.foundation:1650688177"],"information_content":100.0}
{"id":"MONDO:0009042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniotelencephalic dysplasia","equivalent_identifiers":["MONDO:0009042","OMIM:218670","orphanet:1528","UMLS:C1857471","MESH:C535597","SNOMEDCT:715422002","medgen:347462","icd11.foundation:1684038717"],"information_content":100.0}
{"id":"MONDO:0009044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crigler-Najjar syndrome","equivalent_identifiers":["MONDO:0009044","DOID:3803","orphanet:205","UMLS:C5551003","MESH:D003414","MEDDRA:10011386","NCIT:C84656","SNOMEDCT:28259009","medgen:1789261","icd11.foundation:291439191"],"information_content":92.8}
{"id":"MONDO:0009045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crome syndrome","equivalent_identifiers":["MONDO:0009045","OMIM:218900","orphanet:1380","UMLS:C0795914","MESH:C536216","SNOMEDCT:722381004","medgen:167082"],"information_content":100.0}
{"id":"MONDO:0009046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fraser syndrome","equivalent_identifiers":["MONDO:0009046","DOID:0090001","OMIM.PS:219000","orphanet:2052","UMLS:C0265233","MESH:D058497","MEDDRA:10080219","NCIT:C118436","NCIT:C98908","SNOMEDCT:204102004","medgen:82692","icd11.foundation:968262849"],"information_content":90.9}
{"id":"MONDO:0009047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptorchidism","equivalent_identifiers":["MONDO:0009047","DOID:11383","OMIM:219050","EFO:0004562","UMLS:C0010417","MESH:D003456","MEDDRA:10011498","MEDDRA:10025500","MEDDRA:10025501","MEDDRA:10043294","MEDDRA:10043295","MEDDRA:10045505","MEDDRA:10045506","MEDDRA:10056600","NCIT:C12326","SNOMEDCT:204878001","medgen:8192","icd11.foundation:1134950387","ICD10:Q53.9","ICD9:752.51","HP:0000028"],"information_content":69.7}
{"id":"MONDO:0009048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"curved nail of fourth toe","equivalent_identifiers":["MONDO:0009048","OMIM:219070","UMLS:C1857452","medgen:347457"],"information_content":100.0}
{"id":"MONDO:0009049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cushing syndrome due to macronodular adrenal hyperplasia","equivalent_identifiers":["MONDO:0009049","DOID:0111622","OMIM.PS:219080","orphanet:189427","EFO:0009041","UMLS:C2062388","MESH:C565662","SNOMEDCT:720459002","medgen:923388"],"information_content":90.9}
{"id":"MONDO:0009050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cushing Disease","equivalent_identifiers":["MONDO:0009050","DOID:7004","OMIM:219090","orphanet:96253","UMLS:C0221406","MESH:D049913","MEDDRA:10011651","MEDDRA:10035109","NCIT:C113210","medgen:66381","icd11.foundation:380861892"],"information_content":90.9}
{"id":"MONDO:0009051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous photosensitivity-lethal colitis syndrome","equivalent_identifiers":["MONDO:0009051","OMIM:219095","orphanet:2881","UMLS:C1857449","MESH:C536224","medgen:347455"],"information_content":100.0}
{"id":"MONDO:0009052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa, autosomal recessive, type 1A","equivalent_identifiers":["MONDO:0009052","DOID:0070135","OMIM:219100","UMLS:C3665335","UMLS:C5848058","MESH:C562628","SNOMEDCT:59451000","medgen:1846304"],"information_content":100.0}
{"id":"MONDO:0009053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALDH18A1-related de Barsy syndrome","equivalent_identifiers":["MONDO:0009053","DOID:0070132","OMIM:219150","orphanet:35664","UMLS:C5234852","SNOMEDCT:1295485009","SNOMEDCT:59252009","medgen:1720006"],"information_content":100.0}
{"id":"MONDO:0009054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cutis laxa type 2, classic type","equivalent_identifiers":["MONDO:0009054","DOID:0070141","orphanet:357074","UMLS:C5550995","UMLS:C5679922","MESH:C562632","SNOMEDCT:73856006","medgen:1825992"],"information_content":100.0}
{"id":"MONDO:0009055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis marmorata telangiectatica congenita","equivalent_identifiers":["MONDO:0009055","OMIM:219250","orphanet:1556","UMLS:C0345419","MESH:C536226","SNOMEDCT:254778000","medgen:83381","icd11.foundation:1359154853","HP:0025107"],"information_content":100.0}
{"id":"MONDO:0009056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis verticis gyrata and intellectual disability","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009056","OMIM:219300","UMLS:C1857444","medgen:387821"],"information_content":100.0}
{"id":"MONDO:0009058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystathioninuria","equivalent_identifiers":["MONDO:0009058","DOID:0090142","OMIM:219500","orphanet:212","UMLS:C0220993","UMLS:C0268616","UMLS:C3495552","MESH:C535408","MESH:C562680","NCIT:C129070","SNOMEDCT:13003007","SNOMEDCT:6885006","medgen:66353","icd11.foundation:1415819835","ICD10:E72.19","HP:0003153"],"information_content":95.4}
{"id":"MONDO:0009059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cysteine Peptiduria","equivalent_identifiers":["MONDO:0009059","OMIM:219550","UMLS:C1857438","MESH:C565659","medgen:346587"],"information_content":100.0}
{"id":"MONDO:0009060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystic disease of lung","equivalent_identifiers":["MONDO:0009060","OMIM:219600","UMLS:C0555214","UMLS:C1384901","MESH:C563237","MEDDRA:10078811","SNOMEDCT:275505006","medgen:640840","HP:0005948"],"information_content":87.2}
{"id":"MONDO:0009061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystic fibrosis","equivalent_identifiers":["MONDO:0009061","DOID:1485","OMIM:219700","orphanet:586","UMLS:C0010674","MESH:D003550","MEDDRA:10011762","MEDDRA:10011764","MEDDRA:10028141","NCIT:C2975","SNOMEDCT:190905008","medgen:41393","icd11.foundation:514403112","ICD10:E84","ICD9:277.0"],"information_content":83.6}
{"id":"MONDO:0009062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystic fibrosis-gastritis-megaloblastic anemia syndrome","equivalent_identifiers":["MONDO:0009062","OMIM:219721","orphanet:2575","UMLS:C2931402","UMLS:C3806255","MESH:C537039","SNOMEDCT:720401009","medgen:812585"],"information_content":100.0}
{"id":"MONDO:0009063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventriculomegaly-cystic kidney disease","equivalent_identifiers":["MONDO:0009063","DOID:0111625","OMIM:219730","orphanet:443988","UMLS:C1857423","MESH:C565657","SNOMEDCT:1216942009","medgen:346584"],"information_content":100.0}
{"id":"MONDO:0009064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular cystinosis","equivalent_identifiers":["MONDO:0009064","OMIM:219750","orphanet:411641","UMLS:C0342711","UMLS:C2931013","MESH:C535765","SNOMEDCT:25010000","medgen:419313"],"information_content":100.0}
{"id":"MONDO:0009066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile nephropathic cystinosis","equivalent_identifiers":["MONDO:0009066","OMIM:219900","orphanet:411634","EFO:0009049","UMLS:C0268626","MESH:C562683","SNOMEDCT:22830006","medgen:75701","icd11.foundation:422905632"],"information_content":100.0}
{"id":"MONDO:0009067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystinuria","equivalent_identifiers":["MONDO:0009067","DOID:9266","OMIM:220100","orphanet:214","UMLS:C0010691","UMLS:C1857390","UMLS:C5936710","MESH:D003555","MEDDRA:10011778","NCIT:C84664","SNOMEDCT:85020001","medgen:8226","icd11.foundation:1237620397","ICD10:E72.01","HP:0003131"],"information_content":87.2}
{"id":"MONDO:0009069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","equivalent_identifiers":["MONDO:0009069","DOID:0111180","OMIM:220111","orphanet:70472","UMLS:C1857355","MESH:C537004","SNOMEDCT:718219002","medgen:387801"],"information_content":100.0}
{"id":"MONDO:0009070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"D-glyceric aciduria","equivalent_identifiers":["MONDO:0009070","DOID:0111626","OMIM:220120","orphanet:941","UMLS:C0342765","UMLS:C1291386","UMLS:C3887877","MESH:C535767","NCIT:C128804","SNOMEDCT:124323007","SNOMEDCT:237980004","medgen:452447","ICD10:E72.59"],"information_content":100.0}
{"id":"MONDO:0009071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary renal hypouricemia","equivalent_identifiers":["MONDO:0009071","orphanet:94088","UMLS:C4551590","MESH:C537757","SNOMEDCT:236478009","medgen:1643078","icd11.foundation:479364233"],"information_content":88.2}
{"id":"MONDO:0009072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dandy-Walker syndrome","equivalent_identifiers":["MONDO:0009072","DOID:2785","OMIM:220200","orphanet:217","EFO:1000890","UMLS:C0010964","UMLS:C2931867","MESH:C538507","MESH:D003616","MEDDRA:10048411","NCIT:C75012","SNOMEDCT:14447001","medgen:4150","icd11.foundation:993088960","ICD10:Q03.1","HP:0001305"],"information_content":85.5}
{"id":"MONDO:0009073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ritscher-Schinzel syndrome 1","equivalent_identifiers":["MONDO:0009073","DOID:0060571","OMIM:220210","UMLS:C4551776","medgen:1634646"],"information_content":100.0}
{"id":"MONDO:0009074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome","equivalent_identifiers":["MONDO:0009074","OMIM:220219","orphanet:1970","UMLS:C1857352","MESH:C535985","medgen:341752"],"information_content":100.0}
{"id":"MONDO:0009075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dandy-Walker malformation-postaxial polydactyly syndrome","equivalent_identifiers":["MONDO:0009075","OMIM:220220","orphanet:1566","UMLS:C1857351","MESH:C535771","SNOMEDCT:733094005","medgen:341751"],"information_content":100.0}
{"id":"MONDO:0009076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 1A","equivalent_identifiers":["MONDO:0009076","DOID:0110475","OMIM:220290","UMLS:C2673759","UMLS:C2673760","UMLS:C2673761","MESH:C567134","NCIT:C129022","medgen:388720"],"information_content":100.0}
{"id":"MONDO:0009079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DOORS syndrome","equivalent_identifiers":["MONDO:0009079","DOID:0111627","OMIM:220500","orphanet:79500","UMLS:C0795927","UMLS:C0795934","MESH:C538204","MESH:C563052","MEDDRA:10080835","SNOMEDCT:719800009","medgen:208648"],"information_content":100.0}
{"id":"MONDO:0009080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split hand-foot malformation 1 with sensorineural hearing loss","equivalent_identifiers":["MONDO:0009080","DOID:0090024","OMIM:220600","orphanet:71271","UMLS:C1857344","MESH:C565647","SNOMEDCT:723611008","medgen:347431"],"information_content":100.0}
{"id":"MONDO:0009081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, congenital, with total albinism","equivalent_identifiers":["MONDO:0009081","OMIM:220900","UMLS:C1857343","MESH:C565646","medgen:387799"],"information_content":100.0}
{"id":"MONDO:0009082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"high myopia-sensorineural deafness syndrome","equivalent_identifiers":["MONDO:0009082","DOID:0111628","OMIM:221200","orphanet:363396","UMLS:C3806275","UMLS:C4304026","SNOMEDCT:720506002","medgen:812605"],"information_content":100.0}
{"id":"MONDO:0009083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conductive deafness-malformed external ear syndrome","equivalent_identifiers":["MONDO:0009083","OMIM:221300","orphanet:3216","UMLS:C1857341","MESH:C565644","medgen:347429"],"information_content":100.0}
{"id":"MONDO:0009084","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conductive deafness-ptosis-skeletal anomalies syndrome","equivalent_identifiers":["MONDO:0009084","OMIM:221320","orphanet:3236","UMLS:C1857340","MESH:C535993","SNOMEDCT:763213001","medgen:347428"],"information_content":100.0}
{"id":"MONDO:0009085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-vitiligo-achalasia syndrome","equivalent_identifiers":["MONDO:0009085","OMIM:221350","orphanet:3239","UMLS:C1857339","MESH:C565642","medgen:347427"],"information_content":100.0}
{"id":"MONDO:0009086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-small bowel diverticulosis-neuropathy syndrome","equivalent_identifiers":["MONDO:0009086","OMIM:221400","orphanet:3217","UMLS:C1857338","MESH:C537305","SNOMEDCT:733071009","medgen:347426"],"information_content":100.0}
{"id":"MONDO:0009087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, neural, congenital moderate","equivalent_identifiers":["MONDO:0009087","OMIM:221500","UMLS:C1857337","MESH:C565640","medgen:347425"],"information_content":100.0}
{"id":"MONDO:0009088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, neural, with atypical atopic dermatitis","equivalent_identifiers":["MONDO:0009088","OMIM:221700","UMLS:C1857334","MESH:C565639","medgen:346567"],"information_content":100.0}
{"id":"MONDO:0009089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-oligodontia syndrome","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009089","OMIM:221740","orphanet:3230","UMLS:C1857333","MESH:C538049","SNOMEDCT:715527006","medgen:387798"],"information_content":100.0}
{"id":"MONDO:0009090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, sensorineural, autosomal-mitochondrial type","equivalent_identifiers":["MONDO:0009090","DOID:0111752","OMIM:221745","UMLS:C1857332","MESH:C565637","medgen:346566"],"information_content":100.0}
{"id":"MONDO:0009091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-acquired combined pituitary hormone deficiency with spine abnormalities","equivalent_identifiers":["MONDO:0009091","DOID:0061021","OMIM:221750","orphanet:231720","UMLS:C3489787","MESH:C536710","medgen:483740"],"information_content":100.0}
{"id":"MONDO:0009092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly","equivalent_identifiers":["MONDO:0009092","DOID:0090112","OMIM.PS:221770","orphanet:2770","UMLS:C1857316","MESH:C536329","SNOMEDCT:702347001","medgen:387795"],"information_content":92.8}
{"id":"MONDO:0009093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatoleukodystrophy","equivalent_identifiers":["MONDO:0009093","OMIM:221790","orphanet:1659","UMLS:C1857314","MESH:C538220","SNOMEDCT:733044009","medgen:387794"],"information_content":100.0}
{"id":"MONDO:0009094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermochondrocorneal dystrophy","equivalent_identifiers":["MONDO:0009094","OMIM:221800","orphanet:79149","UMLS:C0432288","MESH:C535375","SNOMEDCT:254150007","medgen:98151","icd11.foundation:1305138145"],"information_content":100.0}
{"id":"MONDO:0009095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatoosteolysis, Kirghizian type","equivalent_identifiers":["MONDO:0009095","OMIM:221810","orphanet:1657","UMLS:C1857301","MESH:C535373","SNOMEDCT:721090002","medgen:341742","icd11.foundation:2019080941"],"information_content":100.0}
{"id":"MONDO:0009097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent hyperplastic primary vitreous, autosomal recessive","equivalent_identifiers":["MONDO:0009097","OMIM:221900","UMLS:C1857299","UMLS:C1867315","UMLS:C1969783","MESH:C565633","MESH:C566717","MESH:C566966","medgen:370100"],"information_content":100.0}
{"id":"MONDO:0009099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrogenic diabetes insipidus-intracranial calcification syndrome","equivalent_identifiers":["MONDO:0009099","OMIM:221995","orphanet:3145","UMLS:C1857297","UMLS:C2931070","MESH:C535949","MESH:C565632","SNOMEDCT:716200002","medgen:387791"],"information_content":100.0}
{"id":"MONDO:0009101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolfram syndrome 1","equivalent_identifiers":["MONDO:0009101","DOID:0110629","OMIM:222300","UMLS:C4551693","medgen:1641635","ICD10:E13.8"],"information_content":100.0}
{"id":"MONDO:0009102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diaminopentanuria","equivalent_identifiers":["MONDO:0009102","OMIM:222350","UMLS:C1857285","MESH:C565630","medgen:347412"],"information_content":100.0}
{"id":"MONDO:0009103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diaphragmatic hernia 2","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009103","OMIM:222400","UMLS:C1857284","MESH:C565629","medgen:347411"],"information_content":100.0}
{"id":"MONDO:0009104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Donnai-Barrow syndrome","equivalent_identifiers":["MONDO:0009104","DOID:0090144","OMIM:222448","orphanet:2143","UMLS:C1857277","MESH:C536390","SNOMEDCT:702418009","medgen:347406"],"information_content":100.0}
{"id":"MONDO:0009105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichohepatoenteric syndrome","equivalent_identifiers":["MONDO:0009105","DOID:0111414","OMIM.PS:222470","orphanet:84064","UMLS:C1857276","MESH:C565627","SNOMEDCT:703406006","medgen:347405","icd11.foundation:1470910753"],"information_content":92.8}
{"id":"MONDO:0009106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diastematomyelia","equivalent_identifiers":["MONDO:0009106","OMIM:222500","orphanet:1671","UMLS:C0011999","MEDDRA:10012750","NCIT:C98913","SNOMEDCT:445308004","SNOMEDCT:49351009","medgen:3801","icd11.foundation:2070601288"],"information_content":100.0}
{"id":"MONDO:0009107","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diastrophic dysplasia","equivalent_identifiers":["MONDO:0009107","DOID:14687","OMIM:222600","orphanet:628","UMLS:C0220726","UMLS:C1857255","MESH:C536170","MESH:C565626","MEDDRA:10081228","NCIT:C156311","SNOMEDCT:58561002","medgen:113103","icd11.foundation:1681550532","ICD10:Q77.5"],"information_content":100.0}
{"id":"MONDO:0009108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperdibasic aminoaciduria type 1","equivalent_identifiers":["MONDO:0009108","OMIM:222690","UMLS:C2673736","MESH:C567132","medgen:435997","icd11.foundation:1522058907"],"information_content":100.0}
{"id":"MONDO:0009109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lysinuric protein intolerance","equivalent_identifiers":["MONDO:0009109","DOID:0060439","OMIM:222700","orphanet:470","UMLS:C0268647","MESH:C562687","MEDDRA:10058300","NCIT:C121563","SNOMEDCT:303852004","medgen:75704","icd11.foundation:972050440"],"information_content":100.0}
{"id":"MONDO:0009110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dicarboxylic aminoaciduria","equivalent_identifiers":["MONDO:0009110","DOID:0060650","OMIM:222730","orphanet:2195","UMLS:C1857253","MESH:C536171","SNOMEDCT:716747007","medgen:387782","icd11.foundation:1947265216"],"information_content":100.0}
{"id":"MONDO:0009111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dihydropyrimidinuria","equivalent_identifiers":["MONDO:0009111","DOID:0111629","OMIM:222748","orphanet:38874","UMLS:C0342803","UMLS:C3495551","MESH:C562815","SNOMEDCT:238014002","medgen:83353"],"information_content":100.0}
{"id":"MONDO:0009112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhizomelic chondrodysplasia punctata type 2","equivalent_identifiers":["MONDO:0009112","DOID:0110852","OMIM:222765","orphanet:309796","UMLS:C1857242","MESH:C537607","SNOMEDCT:1003860009","medgen:341734","icd11.foundation:179969811"],"information_content":100.0}
{"id":"MONDO:0009113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic anemia due to diphosphoglycerate mutase deficiency","equivalent_identifiers":["MONDO:0009113","DOID:0111630","OMIM:222800","orphanet:714","UMLS:C1291620","NCIT:C131638","SNOMEDCT:124678007","medgen:489898"],"information_content":100.0}
{"id":"MONDO:0009114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital sucrase-isomaltase deficiency","equivalent_identifiers":["MONDO:0009114","DOID:0111633","OMIM:222900","orphanet:35122","UMLS:C1283620","UMLS:C1291487","MESH:C538139","MEDDRA:10066387","NCIT:C128190","SNOMEDCT:124467005","SNOMEDCT:360854006","SNOMEDCT:78373000","medgen:220924","icd11.foundation:1817406536","ICD10:E74.31"],"information_content":87.2}
{"id":"MONDO:0009115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital lactase deficiency","equivalent_identifiers":["MONDO:0009115","DOID:0111646","OMIM:223000","orphanet:53690","UMLS:C0268179","MESH:C562600","MEDDRA:10086148","SNOMEDCT:5388008","medgen:120617","icd11.foundation:2109252471","ICD10:E73.0"],"information_content":100.0}
{"id":"MONDO:0009121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Voss-Cherstvoy syndrome","equivalent_identifiers":["MONDO:0009121","OMIM:223340","orphanet:3439","UMLS:C1857226","MESH:C565618","SNOMEDCT:719021005","medgen:341728"],"information_content":100.0}
{"id":"MONDO:0009122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dohle bodies and leukemia","equivalent_identifiers":["MONDO:0009122","OMIM:223350","UMLS:C1857225","MESH:C565617","medgen:346548"],"information_content":100.0}
{"id":"MONDO:0009123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orthostatic hypotension 1","equivalent_identifiers":["MONDO:0009123","DOID:0090145","OMIM:223360","orphanet:230","UMLS:C0342687","UMLS:C4746777","MESH:C535600","SNOMEDCT:237923004","medgen:1648402"],"information_content":100.0}
{"id":"MONDO:0009124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dubowitz syndrome","equivalent_identifiers":["MONDO:0009124","DOID:14796","OMIM:223370","orphanet:235","UMLS:C0175691","MESH:C535718","MEDDRA:10059589","NCIT:C125591","SNOMEDCT:2593002","medgen:59797","icd11.foundation:758537040"],"information_content":100.0}
{"id":"MONDO:0009126","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenal atresia","equivalent_identifiers":["MONDO:0009126","DOID:0080216","OMIM:223400","orphanet:1203","UMLS:C0266174","UMLS:C2930994","MESH:C535720","MEDDRA:10013812","MEDDRA:10013813","NCIT:C101025","SNOMEDCT:51118003","medgen:75602","HP:0002247"],"information_content":95.4}
{"id":"MONDO:0009127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dwarfism, low-birth-weight type, with unresponsiveness to growth hormone","equivalent_identifiers":["MONDO:0009127","OMIM:223500","UMLS:C1857197","MESH:C565615","medgen:387764"],"information_content":100.0}
{"id":"MONDO:0009129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dwarfism, proportionate, with hip dislocation","equivalent_identifiers":["MONDO:0009129","OMIM:223550","UMLS:C1857196","MESH:C565614","medgen:347392"],"information_content":100.0}
{"id":"MONDO:0009130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dyggve-Melchior-Clausen disease","equivalent_identifiers":["MONDO:0009130","DOID:0111167","OMIM:223800","orphanet:239","UMLS:C0265286","MESH:C535726","NCIT:C124844","SNOMEDCT:82699004","medgen:120527","icd11.foundation:21266164"],"information_content":95.4}
{"id":"MONDO:0009131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Riley-Day syndrome","equivalent_identifiers":["MONDO:0009131","DOID:11589","OMIM:223900","orphanet:1764","UMLS:C0013364","MESH:D004402","MEDDRA:10016204","MEDDRA:10039179","NCIT:C84706","SNOMEDCT:29159009","medgen:41678","icd11.foundation:831377479","ICD10:G90.1"],"information_content":100.0}
{"id":"MONDO:0009132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysautonomia-like disorder","equivalent_identifiers":["MONDO:0009132","OMIM:224000","UMLS:C1857153","MESH:C535728","medgen:347385"],"information_content":100.0}
{"id":"MONDO:0009133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar ataxia, intellectual disability, and dysequilibrium","equivalent_identifiers":["MONDO:0009133","DOID:0050997","DOID:0070564","OMIM.PS:224050","orphanet:1766","UMLS:C0394006","UMLS:C0403559","MESH:C535731","MEDDRA:10013140","MEDDRA:10059256","NCIT:C114781","SNOMEDCT:230782004","SNOMEDCT:87235005","medgen:98295"],"information_content":89.4}
{"id":"MONDO:0009134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital dyserythropoietic anemia type 2","equivalent_identifiers":["MONDO:0009134","DOID:0111401","OMIM:224100","orphanet:98873","UMLS:C1306589","NCIT:C175991","SNOMEDCT:68870007","medgen:266296"],"information_content":100.0}
{"id":"MONDO:0009135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anemia, congenital dyserythropoietic, type 1a","equivalent_identifiers":["MONDO:0009135","DOID:0111398","OMIM:224120","UMLS:C5574667","medgen:1807106"],"information_content":100.0}
{"id":"MONDO:0009138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysosteosclerosis","equivalent_identifiers":["MONDO:0009138","OMIM:224300","orphanet:1782","UMLS:C0432262","MESH:C562973","SNOMEDCT:254123002","medgen:98150","icd11.foundation:1853176074"],"information_content":100.0}
{"id":"MONDO:0009139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyssegmental dysplasia, Rolland-Desbuquois type","equivalent_identifiers":["MONDO:0009139","OMIM:224400","orphanet:156731","UMLS:C0432209","MESH:C537999","SNOMEDCT:95243004","medgen:98145","icd11.foundation:1291444727"],"information_content":100.0}
{"id":"MONDO:0009140","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Silverman-Handmaker type dyssegmental dysplasia","equivalent_identifiers":["MONDO:0009140","DOID:0090032","OMIM:224410","orphanet:1865","UMLS:C1857100","MESH:C537998","SNOMEDCT:765204000","SNOMEDCT:93132001","medgen:347372"],"information_content":100.0}
{"id":"MONDO:0009141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsion dystonia 2","equivalent_identifiers":["MONDO:0009141","DOID:0090038","OMIM:224500","orphanet:99657","UMLS:C1857093","MESH:C538006","NCIT:C123415","SNOMEDCT:715777007","medgen:346511"],"information_content":100.0}
{"id":"MONDO:0009143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome 1","equivalent_identifiers":["MONDO:0009143","DOID:0080512","OMIM:224690","UMLS:C4552001","SNOMEDCT:703508009","medgen:1641240"],"information_content":100.0}
{"id":"MONDO:0009144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ebstein anomaly","equivalent_identifiers":["MONDO:0009144","DOID:14289","OMIM:224700","orphanet:1880","EFO:0007244","UMLS:C0013481","MESH:D004437","MEDDRA:10014075","NCIT:C84681","SNOMEDCT:204357006","medgen:4435","icd11.foundation:307157712","ICD10:Q22.5","ICD9:746.2","HP:0010316"],"information_content":95.4}
{"id":"MONDO:0009145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SchC6pf-Schulz-Passarge syndrome","equivalent_identifiers":["MONDO:0009145","DOID:0111647","OMIM:224750","orphanet:50944","UMLS:C1857069","MESH:C565607","SNOMEDCT:700062000","medgen:347366"],"information_content":100.0}
{"id":"MONDO:0009146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia-sensorineural deafness syndrome","equivalent_identifiers":["MONDO:0009146","OMIM:224800","orphanet:1883","UMLS:C1857068","UMLS:C2931012","MESH:C535757","MESH:C565606","medgen:346503"],"information_content":100.0}
{"id":"MONDO:0009147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive","equivalent_identifiers":["MONDO:0009147","DOID:0111665","OMIM:224900","UMLS:C3887494","medgen:854356"],"information_content":100.0}
{"id":"MONDO:0009149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome","equivalent_identifiers":["MONDO:0009149","OMIM:225040","orphanet:1812","UMLS:C1857053","MESH:C565605","medgen:347363"],"information_content":100.0}
{"id":"MONDO:0009150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome","equivalent_identifiers":["MONDO:0009150","OMIM:225050","orphanet:1882","UMLS:C1857052","MESH:C565604","SNOMEDCT:239050000","medgen:384046"],"information_content":100.0}
{"id":"MONDO:0009151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft lip/palate-ectodermal dysplasia syndrome","equivalent_identifiers":["MONDO:0009151","DOID:0060773","OMIM:225060","orphanet:3253","UMLS:C1857043","UMLS:C2931488","MESH:C536726","MESH:C565603","NCIT:C122656","SNOMEDCT:716248001","medgen:444067"],"information_content":100.0}
{"id":"MONDO:0009152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectopia lentis 2, isolated, autosomal recessive","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009152","DOID:0111149","OMIM:225100","UMLS:C3541474","medgen:762100"],"information_content":100.0}
{"id":"MONDO:0009153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectopia lentis et pupillae","equivalent_identifiers":["MONDO:0009153","DOID:0111648","OMIM:225200","UMLS:C1644196","MESH:C563268","SNOMEDCT:419237004","medgen:301316"],"information_content":100.0}
{"id":"MONDO:0009154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypothyroidism, congenital, nongoitrous, 5","equivalent_identifiers":["MONDO:0009154","DOID:0070125","OMIM:225250","UMLS:C2673630","MESH:C567123","medgen:388687"],"information_content":100.0}
{"id":"MONDO:0009155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"EEM syndrome","equivalent_identifiers":["MONDO:0009155","DOID:0111649","OMIM:225280","orphanet:1897","UMLS:C1857041","MESH:C536190","SNOMEDCT:720856002","medgen:341679"],"information_content":100.0}
{"id":"MONDO:0009156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectrodactyly-polydactyly syndrome","equivalent_identifiers":["MONDO:0009156","OMIM:225290","orphanet:1892","UMLS:C1857040","MESH:C565601","medgen:384042"],"information_content":100.0}
{"id":"MONDO:0009157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split hand-foot malformation 6","equivalent_identifiers":["MONDO:0009157","DOID:0090026","OMIM:225300","UMLS:C2749665","MESH:C567616","medgen:440845"],"information_content":100.0}
{"id":"MONDO:0009158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, fibronectinemic type","equivalent_identifiers":["MONDO:0009158","OMIM:225310","UMLS:C0268348","UMLS:C1857038","MESH:C565600","SNOMEDCT:83586000","medgen:346497"],"information_content":100.0}
{"id":"MONDO:0009159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, cardiac valvular type","equivalent_identifiers":["MONDO:0009159","DOID:0080730","OMIM:225320","orphanet:230851","UMLS:C1857034","UMLS:C4303789","MESH:C536200","SNOMEDCT:720858001","medgen:929458","icd11.foundation:531375176"],"information_content":100.0}
{"id":"MONDO:0009161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, dermatosparaxis type","equivalent_identifiers":["MONDO:0009161","DOID:0080733","OMIM:225410","orphanet:1901","UMLS:C0268345","UMLS:C2700425","MESH:C567527","SNOMEDCT:1237225007","SNOMEDCT:55711009","medgen:397792","icd11.foundation:445808781"],"information_content":100.0}
{"id":"MONDO:0009162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ellis-van Creveld syndrome","equivalent_identifiers":["MONDO:0009162","DOID:12714","OMIM:225500","orphanet:289","UMLS:C0013903","MESH:D004613","MEDDRA:10008724","MEDDRA:10076418","NCIT:C84684","SNOMEDCT:62501005","medgen:8584","ICD10:Q77.6","ICD9:756.55"],"information_content":95.4}
{"id":"MONDO:0009163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalomalacia, multilocular","equivalent_identifiers":["MONDO:0009163","OMIM:225700","UMLS:C1856991","MESH:C565597","medgen:341670"],"information_content":100.0}
{"id":"MONDO:0009165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi-Goutieres syndrome 1","equivalent_identifiers":["MONDO:0009165","OMIM:225750","UMLS:C0796126","UMLS:C3150315","NCIT:C165501","medgen:162912"],"information_content":100.0}
{"id":"MONDO:0009166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 4","equivalent_identifiers":["MONDO:0009166","DOID:0060273","OMIM:225753","orphanet:166063","UMLS:C1856974","MESH:C536716","SNOMEDCT:718608006","medgen:384027","icd11.foundation:447667859"],"information_content":100.0}
{"id":"MONDO:0009167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bonnemann-Meinecke-Reich syndrome","equivalent_identifiers":["MONDO:0009167","OMIM:225755","orphanet:1261","UMLS:C1856973","UMLS:C4518560","MESH:C565594","SNOMEDCT:733049004","medgen:346482"],"information_content":100.0}
{"id":"MONDO:0009168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fowler syndrome","equivalent_identifiers":["MONDO:0009168","DOID:0111666","OMIM:225790","orphanet:221126","UMLS:C1856972","MESH:C565593","SNOMEDCT:700242002","medgen:384026"],"information_content":100.0}
{"id":"MONDO:0009169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endocardial fibroelastosis","equivalent_identifiers":["MONDO:0009169","DOID:12929","OMIM:226000","orphanet:2022","EFO:0007251","UMLS:C0014117","MESH:D004695","MEDDRA:10014663","NCIT:C98922","SNOMEDCT:65457005","medgen:4041","icd11.foundation:1971033419","ICD10:I42.4","ICD9:425.3","HP:0001706"],"information_content":100.0}
{"id":"MONDO:0009170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endocardial fibroelastosis and coarctation of abdominal aorta","equivalent_identifiers":["MONDO:0009170","OMIM:226100","UMLS:C1856971","MESH:C565592","medgen:341665"],"information_content":100.0}
{"id":"MONDO:0009172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enterocolitis","equivalent_identifiers":["MONDO:0009172","OMIM:226150","EFO:1001481","UMLS:C0014356","MESH:D004760","MEDDRA:10014893","NCIT:C79573","SNOMEDCT:43752006","medgen:4966","HP:0004387"],"information_content":89.4}
{"id":"MONDO:0009173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital enteropathy due to enteropeptidase deficiency","equivalent_identifiers":["MONDO:0009173","DOID:0111667","OMIM:226200","orphanet:168601","UMLS:C0268416","MESH:C562649","SNOMEDCT:124498007","SNOMEDCT:190952002","SNOMEDCT:56661000","medgen:82802"],"information_content":100.0}
{"id":"MONDO:0009174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"protein-losing enteropathy","equivalent_identifiers":["MONDO:0009174","DOID:10611","OMIM:226300","orphanet:566175","UMLS:C0033680","UMLS:C4538570","MESH:D011504","MEDDRA:10085728","SNOMEDCT:1279887007","SNOMEDCT:22542007","SNOMEDCT:66972006","medgen:19522","icd11.foundation:1821383469","HP:0002243"],"information_content":100.0}
{"id":"MONDO:0009175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic fasciitis","equivalent_identifiers":["MONDO:0009175","OMIM:226350","orphanet:3165","UMLS:C0264005","MESH:C562487","MEDDRA:10014954","MEDDRA:10048450","NCIT:C112116","SNOMEDCT:24129002","medgen:82673","icd11.foundation:1977389237","HP:0045029"],"information_content":100.0}
{"id":"MONDO:0009176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermodysplasia verruciformis","equivalent_identifiers":["MONDO:0009176","DOID:13777","orphanet:302","UMLS:C0014522","MESH:D004819","MEDDRA:10052339","MEDDRA:10052357","NCIT:C126877","SNOMEDCT:19138001","medgen:41831","icd11.foundation:1191479808"],"information_content":86.3}
{"id":"MONDO:0009178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa dystrophica Neurotrophica","equivalent_identifiers":["MONDO:0009178","OMIM:226500","UMLS:C0268368","MESH:C562637","SNOMEDCT:254176007","medgen:78666"],"information_content":100.0}
{"id":"MONDO:0009179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recessive dystrophic epidermolysis bullosa","equivalent_identifiers":["MONDO:0009179","DOID:0060642","OMIM:226600","orphanet:79408","UMLS:C0079474","UMLS:C2673611","UMLS:C2673612","MESH:C567121","MESH:C567122","MEDDRA:10087380","NCIT:C156446","SNOMEDCT:48528004","medgen:36311","ICD10:Q81.2"],"information_content":95.4}
{"id":"MONDO:0009180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"junctional epidermolysis bullosa, non-Herlitz type","equivalent_identifiers":["MONDO:0009180","OMIM:226650","UMLS:C0079297","UMLS:C0268374","UMLS:C0432325","MESH:C562639","SNOMEDCT:254193007","SNOMEDCT:33662006","medgen:82798"],"information_content":92.8}
{"id":"MONDO:0009181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 5B, with muscular dystrophy","equivalent_identifiers":["MONDO:0009181","DOID:0090017","OMIM:226670","orphanet:257","UMLS:C2931072","MESH:C535955","SNOMEDCT:723308003","medgen:418981"],"information_content":100.0}
{"id":"MONDO:0009182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Herlitz Disease","equivalent_identifiers":["MONDO:0009182","DOID:0060737","OMIM:226700","orphanet:79404","UMLS:C0079683","SNOMEDCT:400140006","medgen:36328","ICD10:Q81.1"],"information_content":100.0}
{"id":"MONDO:0009183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"junctional epidermolysis bullosa with pyloric atresia","equivalent_identifiers":["MONDO:0009183","DOID:0060733","OMIM:226730","orphanet:79403","UMLS:C1856934","UMLS:C5676875","MESH:C535377","NCIT:C162474","medgen:1810975","icd11.foundation:1877890811","ICD10:Q81.8"],"information_content":100.0}
{"id":"MONDO:0009184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa with diaphragmatic hernia","equivalent_identifiers":["MONDO:0009184","OMIM:226735","UMLS:C1856933","MESH:C565588","medgen:346473"],"information_content":100.0}
{"id":"MONDO:0009185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelocerebrohypohidrotic syndrome","equivalent_identifiers":["MONDO:0009185","DOID:0111668","OMIM:226750","orphanet:1946","UMLS:C0406740","MESH:C537213","SNOMEDCT:109478007","medgen:98036"],"information_content":100.0}
{"id":"MONDO:0009187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"celiac disease-epilepsy-cerebral calcification syndrome","equivalent_identifiers":["MONDO:0009187","OMIM:226810","orphanet:1459","UMLS:C1856930","MESH:C535496","medgen:341654"],"information_content":100.0}
{"id":"MONDO:0009188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy-telangiectasia syndrome","equivalent_identifiers":["MONDO:0009188","OMIM:226850","orphanet:1951","UMLS:C1856929","MESH:C535497","medgen:384017"],"information_content":100.0}
{"id":"MONDO:0009189","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia type 4","equivalent_identifiers":["MONDO:0009189","DOID:0070300","OMIM:226900","orphanet:93307","UMLS:C1847593","MESH:C535504","SNOMEDCT:715672007","medgen:376164","icd11.foundation:1927114777"],"information_content":100.0}
{"id":"MONDO:0009190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiphyseal dysplasia of femoral head, myopia, and deafness","equivalent_identifiers":["MONDO:0009190","OMIM:226950","UMLS:C1856918","MESH:C565585","medgen:346470"],"information_content":100.0}
{"id":"MONDO:0009191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lowry-Wood syndrome","equivalent_identifiers":["MONDO:0009191","OMIM:226960","orphanet:1824","UMLS:C0796021","MESH:C537038","MEDDRA:10062600","SNOMEDCT:721975004","medgen:162899","icd11.foundation:1713071905"],"information_content":100.0}
{"id":"MONDO:0009192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolcott-Rallison syndrome","equivalent_identifiers":["MONDO:0009192","DOID:0090060","OMIM:226980","orphanet:1667","UMLS:C0432217","MESH:C536739","MEDDRA:10090582","NCIT:C131007","SNOMEDCT:254066006","medgen:140926","icd11.foundation:2096915129","ICD10:E13"],"information_content":100.0}
{"id":"MONDO:0009194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 32B","equivalent_identifiers":["MONDO:0009194","DOID:0111985","OMIM:226990","orphanet:2566","UMLS:C4016741","UMLS:C4751209","SNOMEDCT:773738009","medgen:865178"],"information_content":100.0}
{"id":"MONDO:0009195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythema of acral regions","equivalent_identifiers":["MONDO:0009195","OMIM:227000","UMLS:C1856900","medgen:384009"],"information_content":100.0}
{"id":"MONDO:0009196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BADS Syndrome","equivalent_identifiers":["MONDO:0009196","OMIM:227010","orphanet:999","UMLS:C1856899","MESH:C535508","MESH:C562663","SNOMEDCT:10170007","medgen:346466","icd11.foundation:2048725507"],"information_content":100.0}
{"id":"MONDO:0009197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient erythroblastopenia of childhood","equivalent_identifiers":["MONDO:0009197","OMIM:227050","orphanet:98871","UMLS:C0238478","UMLS:C0451688","MESH:C536980","NCIT:C131683","SNOMEDCT:191255003","SNOMEDCT:234375006","medgen:68670"],"information_content":100.0}
{"id":"MONDO:0009198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital lethal erythroderma","equivalent_identifiers":["MONDO:0009198","OMIM:227090","orphanet:1954","UMLS:C1856898","MESH:C535513","SNOMEDCT:722391005","medgen:384008"],"information_content":100.0}
{"id":"MONDO:0009199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ethanolaminosis","equivalent_identifiers":["MONDO:0009199","OMIM:227150","UMLS:C0268423","MESH:C562651","SNOMEDCT:64235006","medgen:120637"],"information_content":100.0}
{"id":"MONDO:0009202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thakker-Donnai syndrome","equivalent_identifiers":["MONDO:0009202","OMIM:227255","orphanet:1780","UMLS:C1856892","UMLS:C2931219","MESH:C536503","MESH:C565579","SNOMEDCT:773281008","medgen:346465"],"information_content":100.0}
{"id":"MONDO:0009203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal facial dermal dysplasia type III","equivalent_identifiers":["MONDO:0009203","OMIM:227260","orphanet:1807","UMLS:C1744559","SNOMEDCT:403771007","medgen:315643"],"information_content":95.4}
{"id":"MONDO:0009204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal faciocardiomelic dysplasia","equivalent_identifiers":["MONDO:0009204","OMIM:227270","orphanet:1972","UMLS:C1856891","MESH:C565578","SNOMEDCT:719400000","medgen:384007"],"information_content":100.0}
{"id":"MONDO:0009205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"faciocardiorenal syndrome","equivalent_identifiers":["MONDO:0009205","OMIM:227280","orphanet:1973","UMLS:C0795936","MESH:C536388","SNOMEDCT:723333000","medgen:208649"],"information_content":100.0}
{"id":"MONDO:0009206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor V and factor VIII, combined deficiency of, type 1","equivalent_identifiers":["MONDO:0009206","OMIM:227300","UMLS:C0272342","UMLS:C4551981","MESH:C565577","SNOMEDCT:84048006","medgen:1637212"],"information_content":100.0}
{"id":"MONDO:0009207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor","equivalent_identifiers":["MONDO:0009207","OMIM:227310","UMLS:C1856882","medgen:346462"],"information_content":100.0}
{"id":"MONDO:0009209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive faciodigitogenital syndrome","equivalent_identifiers":["MONDO:0009209","OMIM:227330","orphanet:1974","UMLS:C1856871","SNOMEDCT:725434009","medgen:341637"],"information_content":100.0}
{"id":"MONDO:0009210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital factor V deficiency","equivalent_identifiers":["MONDO:0009210","DOID:2216","OMIM:227400","orphanet:326","UMLS:C0015499","NCIT:C98938","SNOMEDCT:88776002","medgen:4633"],"information_content":100.0}
{"id":"MONDO:0009211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital factor VII deficiency","equivalent_identifiers":["MONDO:0009211","DOID:2215","OMIM:227500","orphanet:327","UMLS:C0272320","NCIT:C131631","NCIT:C98939","SNOMEDCT:40855001","medgen:473015","ICD10:D68.2"],"information_content":90.9}
{"id":"MONDO:0009212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital factor X deficiency","equivalent_identifiers":["MONDO:0009212","DOID:2222","OMIM:227600","orphanet:328","UMLS:C0272327","NCIT:C98940","SNOMEDCT:37350004","medgen:543976","icd11.foundation:1886781445"],"information_content":100.0}
{"id":"MONDO:0009213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group C","equivalent_identifiers":["MONDO:0009213","DOID:0111087","OMIM:227645","UMLS:C3468041","NCIT:C125704","SNOMEDCT:1285021005","medgen:483324"],"information_content":92.8}
{"id":"MONDO:0009214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group D2","equivalent_identifiers":["MONDO:0009214","DOID:0111083","OMIM:227646","UMLS:C3160738","NCIT:C125706","medgen:463627"],"information_content":92.8}
{"id":"MONDO:0009215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group A","equivalent_identifiers":["MONDO:0009215","DOID:0111095","OMIM:227650","EFO:0009044","UMLS:C1856796","UMLS:C1856797","UMLS:C3469521","MESH:C565572","MESH:C565573","NCIT:C125702","medgen:483333"],"information_content":92.8}
{"id":"MONDO:0009216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to GLUT2 deficiency","equivalent_identifiers":["MONDO:0009216","DOID:0070562","OMIM:227810","orphanet:2088","UMLS:C3495427","UMLS:C3536827","NCIT:C168998","SNOMEDCT:61598006","medgen:501176","icd11.foundation:426701963"],"information_content":100.0}
{"id":"MONDO:0009217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi-like syndrome","equivalent_identifiers":["MONDO:0009217","DOID:0090066","OMIM:227850","UMLS:C0151638","MESH:C536855","MEDDRA:10016220","MEDDRA:10042805","SNOMEDCT:236469003","medgen:56237"],"information_content":95.4}
{"id":"MONDO:0009218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Farber lipogranulomatosis","equivalent_identifiers":["MONDO:0009218","DOID:0050464","OMIM:228000","orphanet:333","UMLS:C0268255","MESH:D055577","MEDDRA:10083969","NCIT:C84710","SNOMEDCT:79935000","medgen:78654"],"information_content":100.0}
{"id":"MONDO:0009219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fascial dystrophy, congenital","equivalent_identifiers":["MONDO:0009219","OMIM:228020","UMLS:C1302740","MESH:C563219","SNOMEDCT:399948007","medgen:226997"],"information_content":100.0}
{"id":"MONDO:0009221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"femur-fibula-ulna complex","equivalent_identifiers":["MONDO:0009221","OMIM:228200","orphanet:2019","UMLS:C1856790","MESH:C537918","MEDDRA:10068448","SNOMEDCT:1230098009","medgen:347305","icd11.foundation:353892894"],"information_content":100.0}
{"id":"MONDO:0009222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gollop-Wolfgang complex","equivalent_identifiers":["MONDO:0009222","OMIM:228250","orphanet:1986","UMLS:C1856789","MESH:C537917","MEDDRA:10079731","SNOMEDCT:716006003","medgen:341622"],"information_content":100.0}
{"id":"MONDO:0009223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 23 with or without anosmia","equivalent_identifiers":["MONDO:0009223","DOID:0090091","OMIM:228300","orphanet:325448","UMLS:C0271582","MESH:C537919","SNOMEDCT:8829008","medgen:82881","ICD10:Q56.1"],"information_content":100.0}
{"id":"MONDO:0009224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal iodine syndrome","equivalent_identifiers":["MONDO:0009224","OMIM:228355","orphanet:1910","UMLS:C0342200","UMLS:C4273860","NCIT:C98921","SNOMEDCT:718228001","SNOMEDCT:75065003","medgen:907922"],"information_content":100.0}
{"id":"MONDO:0009226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrochondrogenesis 1","equivalent_identifiers":["MONDO:0009226","DOID:0080672","OMIM:228520","UMLS:C3278138","medgen:479768"],"information_content":100.0}
{"id":"MONDO:0009227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibromatosis, infantile, 1","equivalent_identifiers":["MONDO:0009227","OMIM:228550","UMLS:C4551572","MESH:C562978","NCIT:C176943","SNOMEDCT:254146000","medgen:1632352"],"information_content":92.8}
{"id":"MONDO:0009228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gingival fibromatosis-facial dysmorphism syndrome","equivalent_identifiers":["MONDO:0009228","OMIM:228560","orphanet:2025","UMLS:C1856761","MESH:C565567","medgen:346437"],"information_content":100.0}
{"id":"MONDO:0009229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyaline fibromatosis syndrome","equivalent_identifiers":["MONDO:0009229","DOID:0111669","OMIM:228600","orphanet:498474","UMLS:C5574677","SNOMEDCT:1197494003","medgen:1805033"],"information_content":92.8}
{"id":"MONDO:0009231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromesomelic dysplasia 2B","equivalent_identifiers":["MONDO:0009231","DOID:0050790","OMIM:228900","orphanet:2639","UMLS:C1856738","MESH:C537931","SNOMEDCT:715474004","medgen:346432","KEGG.DISEASE:H00467"],"information_content":100.0}
{"id":"MONDO:0009232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fuhrmann syndrome","equivalent_identifiers":["MONDO:0009232","DOID:0090067","OMIM:228930","orphanet:2854","UMLS:C1856728","MESH:C538189","SNOMEDCT:721296004","medgen:346429","ICD10:Q74.8"],"information_content":100.0}
{"id":"MONDO:0009233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fibulo-ulnar hypoplasia-renal anomalies syndrome","equivalent_identifiers":["MONDO:0009233","OMIM:228940","orphanet:2256","UMLS:C1856727","MESH:C537226","SNOMEDCT:716094008","medgen:383972"],"information_content":100.0}
{"id":"MONDO:0009234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FLAUJEAC TRAIT","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009234","DOID:0111676","OMIM:228960","orphanet:483","UMLS:C0272340","UMLS:C1856719","UMLS:C2673570","UMLS:C2673571","UMLS:C2673572","MESH:C537060","MESH:C567116","NCIT:C98946","SNOMEDCT:27312002","medgen:75780","icd11.foundation:453135247","HP:0005527"],"information_content":100.0}
{"id":"MONDO:0009235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial benign flecked retina","equivalent_identifiers":["MONDO:0009235","DOID:0111677","OMIM:228980","orphanet:363989","UMLS:C1856718","MESH:C565564","SNOMEDCT:770434009","medgen:341605"],"information_content":100.0}
{"id":"MONDO:0009238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary folate malabsorption","equivalent_identifiers":["MONDO:0009238","DOID:0111678","OMIM:229050","orphanet:90045","UMLS:C0342705","MESH:C562799","NCIT:C156424","SNOMEDCT:62578003","medgen:83348","icd11.foundation:773545237"],"information_content":100.0}
{"id":"MONDO:0009239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 24 without anosmia","equivalent_identifiers":["MONDO:0009239","DOID:0090088","OMIM:229070","orphanet:52901","UMLS:C1856716","UMLS:C5574957","MESH:C537070","NCIT:C121142","SNOMEDCT:758664007","medgen:1806136","ICD10:E23.6"],"information_content":100.0}
{"id":"MONDO:0009240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"formiminoglutamic aciduria","equivalent_identifiers":["MONDO:0009240","DOID:0111679","OMIM:229100","orphanet:51208","UMLS:C0268609","MESH:C537425","SNOMEDCT:59761008","medgen:82823","icd11.foundation:664824338"],"information_content":100.0}
{"id":"MONDO:0009241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fountain syndrome","equivalent_identifiers":["MONDO:0009241","OMIM:229120","orphanet:3219","UMLS:C0795944","MESH:C537270","MEDDRA:10083946","SNOMEDCT:720957007","medgen:208650"],"information_content":100.0}
{"id":"MONDO:0009242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brittle cornea syndrome","equivalent_identifiers":["MONDO:0009242","DOID:14775","OMIM.PS:229200","orphanet:90354","SNOMEDCT:719096006"],"information_content":92.8}
{"id":"MONDO:0009243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fraser-like syndrome","equivalent_identifiers":["MONDO:0009243","OMIM:229230","UMLS:C1856708","MESH:C565562","medgen:346426"],"information_content":100.0}
{"id":"MONDO:0009247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontofacionasal dysplasia","equivalent_identifiers":["MONDO:0009247","OMIM:229400","orphanet:1791","UMLS:C2931720","MESH:C538063","SNOMEDCT:716022002","medgen:444125"],"information_content":100.0}
{"id":"MONDO:0009248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fructose and galactose intolerance","equivalent_identifiers":["MONDO:0009248","OMIM:229500","UMLS:C1856686","MESH:C565558","medgen:341598"],"information_content":100.0}
{"id":"MONDO:0009249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary fructose intolerance","equivalent_identifiers":["MONDO:0009249","DOID:9869","OMIM:229600","orphanet:469","UMLS:C0016751","MESH:D005633","MEDDRA:10017397","MEDDRA:10019878","MEDDRA:10072104","NCIT:C84720","SNOMEDCT:20052008","medgen:42105","icd11.foundation:1925240365","ICD10:E74.12","ICD9:271.2","HP:0005973"],"information_content":100.0}
{"id":"MONDO:0009251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fructose-1,6-bisphosphatase deficiency","equivalent_identifiers":["MONDO:0009251","DOID:5204","OMIM:229700","orphanet:348","UMLS:C0016756","MESH:D015319","MEDDRA:10081516","NCIT:C128119","SNOMEDCT:28183005","medgen:42106","ICD10:E74.19"],"information_content":100.0}
{"id":"MONDO:0009252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fructosuria","equivalent_identifiers":["MONDO:0009252","DOID:0111680","OMIM:229800","orphanet:2056","UMLS:C0268160","MESH:C538068","MEDDRA:10015487","SNOMEDCT:124299001","SNOMEDCT:124300009","SNOMEDCT:24338009","SNOMEDCT:40278002","medgen:78645","icd11.foundation:1362211287","ICD10:E74.11"],"information_content":100.0}
{"id":"MONDO:0009253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fryns syndrome","equivalent_identifiers":["MONDO:0009253","OMIM:229850","orphanet:2059","UMLS:C0220730","MESH:C538070","MEDDRA:10075223","NCIT:C98932","SNOMEDCT:702432006","medgen:65088","icd11.foundation:1327847749"],"information_content":100.0}
{"id":"MONDO:0009254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fucosidosis","equivalent_identifiers":["MONDO:0009254","DOID:14500","OMIM:230000","orphanet:349","UMLS:C0016788","MESH:D005645","NCIT:C61274","SNOMEDCT:64716005","medgen:5288","icd11.foundation:1470242510"],"information_content":100.0}
{"id":"MONDO:0009255","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"galactokinase deficiency","equivalent_identifiers":["MONDO:0009255","DOID:14695","OMIM:230200","orphanet:79237","UMLS:C0268155","NCIT:C114767","SNOMEDCT:124302001","medgen:120614","icd11.foundation:1173858031","ICD10:E74.29"],"information_content":100.0}
{"id":"MONDO:0009256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"galactorrhea","equivalent_identifiers":["MONDO:0009256","OMIM:230300","UMLS:C0235660","UMLS:C3665358","MESH:D005687","MEDDRA:10017592","MEDDRA:10017594","MEDDRA:10017595","MEDDRA:10017600","MEDDRA:10017603","MEDDRA:10023668","MEDDRA:10073888","NCIT:C113343","SNOMEDCT:198115002","SNOMEDCT:78622004","medgen:777088","HP:0100829"],"information_content":92.8}
{"id":"MONDO:0009257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"galactose epimerase deficiency","equivalent_identifiers":["MONDO:0009257","DOID:0111458","OMIM:230350","orphanet:79238","UMLS:C0751161","SNOMEDCT:8849004","medgen:199598"],"information_content":92.8}
{"id":"MONDO:0009258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic galactosemia","equivalent_identifiers":["MONDO:0009258","DOID:0111459","OMIM:230400","orphanet:79239","UMLS:C0268151","UMLS:C0268152","UMLS:C3278146","NCIT:C99104","SNOMEDCT:10899004","SNOMEDCT:124354006","SNOMEDCT:398664009","medgen:82777","icd11.foundation:2011000259"],"information_content":100.0}
{"id":"MONDO:0009259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gamma-glutamylcysteine synthetase deficiency","equivalent_identifiers":["MONDO:0009259","DOID:0111681","OMIM:230450","orphanet:33574","UMLS:C0268523","UMLS:C1856603","MESH:C565557","SNOMEDCT:36799008","medgen:347272"],"information_content":100.0}
{"id":"MONDO:0009260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GM1 gangliosidosis type 1","equivalent_identifiers":["MONDO:0009260","DOID:0080502","OMIM:230500","orphanet:79255","UMLS:C0268271","UMLS:C1968748","MESH:C566895","SNOMEDCT:238026007","medgen:75665","icd11.foundation:466200180"],"information_content":100.0}
{"id":"MONDO:0009261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GM1 gangliosidosis type 2","equivalent_identifiers":["MONDO:0009261","DOID:0080501","OMIM:230600","orphanet:79256","UMLS:C0268272","UMLS:C1968746","MESH:C566893","SNOMEDCT:18756002","medgen:120625","icd11.foundation:1132250614"],"information_content":100.0}
{"id":"MONDO:0009262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GM1 gangliosidosis type 3","equivalent_identifiers":["MONDO:0009262","DOID:0080489","OMIM:230650","orphanet:79257","UMLS:C0268273","SNOMEDCT:238027003","medgen:78655","icd11.foundation:1331496842"],"information_content":100.0}
{"id":"MONDO:0009263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GAPO syndrome","equivalent_identifiers":["MONDO:0009263","DOID:0112249","OMIM:230740","orphanet:2067","UMLS:C0406723","MESH:C535642","SNOMEDCT:721843003","medgen:98034","icd11.foundation:909165198"],"information_content":100.0}
{"id":"MONDO:0009264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastroschisis","equivalent_identifiers":["MONDO:0009264","DOID:11044","OMIM:230750","orphanet:2368","EFO:1000949","UMLS:C0265706","MESH:D020139","MEDDRA:10018046","NCIT:C84725","SNOMEDCT:72951007","medgen:82721","icd11.foundation:551758329","ICD10:Q79.3","ICD9:756.73","HP:0001543"],"information_content":95.4}
{"id":"MONDO:0009265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gaucher disease type I","equivalent_identifiers":["MONDO:0009265","DOID:0110957","OMIM:230800","orphanet:77259","UMLS:C1961835","MEDDRA:10075697","SNOMEDCT:62201009","medgen:409531"],"information_content":100.0}
{"id":"MONDO:0009266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gaucher disease type II","equivalent_identifiers":["MONDO:0009266","DOID:0110958","OMIM:230900","orphanet:77260","UMLS:C0268250","MEDDRA:10075698","SNOMEDCT:12246008","medgen:78652"],"information_content":100.0}
{"id":"MONDO:0009267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gaucher disease type III","equivalent_identifiers":["MONDO:0009267","DOID:0110959","OMIM:231000","orphanet:77261","UMLS:C0268251","UMLS:C1856491","UMLS:C1856492","UMLS:C1856493","MESH:C565554","MESH:C565555","MESH:C565556","MEDDRA:10075699","SNOMEDCT:5963005","medgen:78653"],"information_content":100.0}
{"id":"MONDO:0009268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome","equivalent_identifiers":["MONDO:0009268","DOID:0112250","OMIM:231005","orphanet:2072","UMLS:C1856476","UMLS:C2931585","MESH:C537675","MESH:C565553","SNOMEDCT:1156813002","medgen:341563"],"information_content":100.0}
{"id":"MONDO:0009269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"geleophysic dysplasia 1","equivalent_identifiers":["MONDO:0009269","DOID:0111725","OMIM:231050","UMLS:C3278147","NCIT:C202607","medgen:479777"],"information_content":100.0}
{"id":"MONDO:0009270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"genito-palato-cardiac syndrome","equivalent_identifiers":["MONDO:0009270","OMIM:231060","orphanet:2075","UMLS:C1856466","MESH:C537683","SNOMEDCT:773749003","medgen:341558","icd11.foundation:2011995320"],"information_content":100.0}
{"id":"MONDO:0009271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"geroderma osteodysplastica","equivalent_identifiers":["MONDO:0009271","DOID:0111266","OMIM:231070","orphanet:2078","UMLS:C0432255","MESH:C537799","SNOMEDCT:254116003","medgen:98149"],"information_content":100.0}
{"id":"MONDO:0009272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"German syndrome","equivalent_identifiers":["MONDO:0009272","OMIM:231080","orphanet:2077","UMLS:C3887495","MESH:C562543","SNOMEDCT:733037000","medgen:854357"],"information_content":100.0}
{"id":"MONDO:0009273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydatidiform mole, recurrent, 1","equivalent_identifiers":["MONDO:0009273","OMIM:231090","UMLS:C2931618","UMLS:C3463897","MESH:D031901","NCIT:C180633","SNOMEDCT:416402001","SNOMEDCT:609518007","medgen:483038"],"information_content":74.6}
{"id":"MONDO:0009274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ghosal hematodiaphyseal dysplasia","equivalent_identifiers":["MONDO:0009274","DOID:0112251","OMIM:231095","orphanet:1802","UMLS:C1856465","MESH:C565551","SNOMEDCT:389214003","medgen:344739"],"information_content":100.0}
{"id":"MONDO:0009275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal hemochromatosis","equivalent_identifiers":["MONDO:0009275","OMIM:231100","orphanet:446","UMLS:C0268059","MESH:C536394","MEDDRA:10078355","MEDDRA:10078357","NCIT:C129980","SNOMEDCT:6160004","medgen:82768"],"information_content":100.0}
{"id":"MONDO:0009276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bernard-Soulier syndrome","equivalent_identifiers":["MONDO:0009276","DOID:2217","OMIM:231200","orphanet:274","UMLS:C0005129","UMLS:C1856447","UMLS:C1856448","UMLS:C2713537","UMLS:C3278148","MESH:C565549","MESH:C565550","MESH:D001606","MEDDRA:10057473","NCIT:C84595","SNOMEDCT:234478007","SNOMEDCT:54569005","medgen:2212","icd11.foundation:507309898"],"information_content":95.4}
{"id":"MONDO:0009277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma 3A","equivalent_identifiers":["MONDO:0009277","DOID:11211","OMIM:231300","orphanet:98976","UMLS:C0311251","UMLS:C1856439","UMLS:C3278153","UMLS:C4551507","MESH:C565547","MEDDRA:10006587","MEDDRA:10006589","MEDDRA:10006590","MEDDRA:10040682","NCIT:C148260","medgen:383912","ICD9:743.21","HP:0000557"],"information_content":100.0}
{"id":"MONDO:0009279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triple-A syndrome","equivalent_identifiers":["MONDO:0009279","DOID:0050602","OMIM:231550","orphanet:869","UMLS:C0271742","MESH:C536008","MEDDRA:10073592","MEDDRA:10073593","NCIT:C35710","SNOMEDCT:45414006","medgen:82889"],"information_content":100.0}
{"id":"MONDO:0009280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monosodium glutamate sensitivity","equivalent_identifiers":["MONDO:0009280","OMIM:231630","UMLS:C0008127","MESH:C562377","MEDDRA:10037980","SNOMEDCT:56344009","SNOMEDCT:782338006","medgen:891"],"information_content":100.0}
{"id":"MONDO:0009281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glutaryl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0009281","DOID:0111254","OMIM:231670","orphanet:25","UMLS:C0268595","MESH:C536833","MEDDRA:10088192","MEDDRA:10088195","NCIT:C99101","SNOMEDCT:360416003","SNOMEDCT:76175005","medgen:124337"],"information_content":100.0}
{"id":"MONDO:0009282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple acyl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0009282","DOID:0060358","OMIM:231680","orphanet:26791","UMLS:C0268596","UMLS:C1856401","UMLS:C1856403","UMLS:C1856405","MESH:D054069","MEDDRA:10090590","NCIT:C84907","SNOMEDCT:22886006","medgen:75696","icd11.foundation:977130875","ICD10:E71.313"],"information_content":88.2}
{"id":"MONDO:0009283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glutaric acidemia type 3","equivalent_identifiers":["MONDO:0009283","DOID:0112246","OMIM:231690","orphanet:35706","UMLS:C0342873","MESH:C562818","SNOMEDCT:238070003","medgen:87464"],"information_content":100.0}
{"id":"MONDO:0009284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glutathione synthetase deficiency without 5-oxoprolinuria","equivalent_identifiers":["MONDO:0009284","DOID:0112252","OMIM:231900","orphanet:289849","UMLS:C1856399","MESH:C565545","medgen:343541","icd11.foundation:178842925"],"information_content":100.0}
{"id":"MONDO:0009285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glutathionuria","equivalent_identifiers":["MONDO:0009285","DOID:0111257","OMIM:231950","orphanet:33573","UMLS:C0268524","MESH:C536836","SNOMEDCT:78586005","medgen:82813","icd11.foundation:2074850874"],"information_content":100.0}
{"id":"MONDO:0009287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glucose-6-phosphatase deficiency type IA","equivalent_identifiers":["MONDO:0009287","DOID:2749","OMIM:232200","orphanet:79258","UMLS:C2919796","MESH:C538655","MEDDRA:10056911","NCIT:C162398","SNOMEDCT:444707001","medgen:415885"],"information_content":100.0}
{"id":"MONDO:0009288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease Ib","equivalent_identifiers":["MONDO:0009288","DOID:0081330","DOID:0081331","OMIM:232220","OMIM:232240","orphanet:79259","UMLS:C0268146","UMLS:C0342749","MESH:C562594","MESH:C562805","MEDDRA:10056897","NCIT:C122661","SNOMEDCT:237965005","SNOMEDCT:30102006","medgen:78644"],"information_content":100.0}
{"id":"MONDO:0009290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease II","equivalent_identifiers":["MONDO:0009290","DOID:2752","OMIM:232300","orphanet:365","UMLS:C0017921","UMLS:C2931347","MESH:C536839","MESH:D006009","MEDDRA:10036143","MEDDRA:10045253","MEDDRA:10053185","NCIT:C84734","SNOMEDCT:274864009","medgen:5340","ICD10:E74.02"],"information_content":92.8}
{"id":"MONDO:0009291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease III","equivalent_identifiers":["MONDO:0009291","DOID:2748","OMIM:232400","orphanet:366","UMLS:C0017922","UMLS:C1968739","UMLS:C1968740","UMLS:C1968741","UMLS:C1968742","MESH:C566889","MESH:C566890","MESH:C566891","MESH:C566892","MESH:D006010","MEDDRA:10011945","MEDDRA:10016983","MEDDRA:10053250","NCIT:C84736","SNOMEDCT:66937008","medgen:6641","ICD10:E74.03"],"information_content":100.0}
{"id":"MONDO:0009292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glycogen branching enzyme deficiency","equivalent_identifiers":["MONDO:0009292","DOID:2750","OMIM:232500","orphanet:367","UMLS:C0017923","UMLS:C1856301","UMLS:C2936914","MESH:C537275","MESH:C565539","MESH:D006011","MEDDRA:10018467","MEDDRA:10053249","MEDDRA:10053258","NCIT:C84737","SNOMEDCT:11179002","SNOMEDCT:124267007","medgen:6642"],"information_content":85.5}
{"id":"MONDO:0009293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease V","equivalent_identifiers":["MONDO:0009293","DOID:2746","OMIM:232600","orphanet:368","UMLS:C0017924","MESH:D006012","MEDDRA:10018462","MEDDRA:10026969","MEDDRA:10026970","MEDDRA:10045269","MEDDRA:10053245","NCIT:C84738","SNOMEDCT:55912009","medgen:5341","ICD10:E74.04"],"information_content":100.0}
{"id":"MONDO:0009294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease VI","equivalent_identifiers":["MONDO:0009294","DOID:2754","OMIM:232700","orphanet:369","UMLS:C0017925","MESH:D006013","MEDDRA:10053240","MEDDRA:10053251","MEDDRA:10053254","MEDDRA:10089392","NCIT:C126875","SNOMEDCT:29291001","medgen:6643"],"information_content":100.0}
{"id":"MONDO:0009295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease VII","equivalent_identifiers":["MONDO:0009295","DOID:11721","OMIM:232800","orphanet:371","UMLS:C0017926","MESH:D006014","MEDDRA:10053241","MEDDRA:10053252","MEDDRA:10053255","NCIT:C118437","SNOMEDCT:89597008","medgen:5342","ICD10:E74.09"],"information_content":100.0}
{"id":"MONDO:0009296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycoprotein storage disease","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009296","OMIM:232900","UMLS:C0268220","UMLS:C1856275","MESH:C565538","SNOMEDCT:7810004","medgen:343516"],"information_content":100.0}
{"id":"MONDO:0009297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial renal glucosuria","equivalent_identifiers":["MONDO:0009297","DOID:0070613","DOID:9432","OMIM:233100","orphanet:69076","EFO:1001151","UMLS:C0017980","UMLS:C3245525","MESH:D006030","MEDDRA:10018479","MEDDRA:10038457","MEDDRA:10073689","SNOMEDCT:226309007","SNOMEDCT:267430007","medgen:757652","icd11.foundation:381783069","ICD9:271.4"],"information_content":100.0}
{"id":"MONDO:0009298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GOMBO syndrome","equivalent_identifiers":["MONDO:0009298","OMIM:233270","UMLS:C1856274","MESH:C537284","medgen:343515"],"information_content":100.0}
{"id":"MONDO:0009299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46 XX gonadal dysgenesis","equivalent_identifiers":["MONDO:0009299","DOID:14450","OMIM.PS:233300","orphanet:243","UMLS:C0685837","MESH:D023961","NCIT:C120197","SNOMEDCT:95198001","medgen:146899","icd11.foundation:1742528605"],"information_content":83.6}
{"id":"MONDO:0009300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perrault syndrome 1","equivalent_identifiers":["MONDO:0009300","OMIM:233400","orphanet:642945","UMLS:C4551721","medgen:1640257"],"information_content":100.0}
{"id":"MONDO:0009301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 7","equivalent_identifiers":["MONDO:0009301","DOID:0111774","OMIM:233420","UMLS:C1856273","MESH:C565537","medgen:383876"],"information_content":100.0}
{"id":"MONDO:0009302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"XY type gonadal dysgenesis-associated anomalies syndrome","equivalent_identifiers":["MONDO:0009302","orphanet:1770","UMLS:C1856272","MESH:C565536","SNOMEDCT:733605002","medgen:344696"],"information_content":100.0}
{"id":"MONDO:0009303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anti-glomerular basement membrane disease","equivalent_identifiers":["MONDO:0009303","DOID:9808","OMIM:233450","orphanet:375","EFO:0007290","UMLS:C0403529","UMLS:C0549143","MESH:C538458","MESH:D019867","MEDDRA:10018620","MEDDRA:10042811","MEDDRA:10068513","MEDDRA:10081981","MEDDRA:10081982","NCIT:C34649","NCIT:C84566","SNOMEDCT:236432001","SNOMEDCT:50581000","SNOMEDCT:788613004","medgen:140788","icd11.foundation:591736785","ICD10:M31.0","ICD9:446.21"],"information_content":90.9}
{"id":"MONDO:0009305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulocytopenia with immunoglobulin abnormality","equivalent_identifiers":["MONDO:0009305","DOID:0111974","OMIM:233600","UMLS:C1856263","MESH:C565535","medgen:383874"],"information_content":100.0}
{"id":"MONDO:0009306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency with skin granulomas","equivalent_identifiers":["MONDO:0009306","DOID:0112253","OMIM:233650","orphanet:157949","UMLS:C2673536","MESH:C567115","medgen:435945"],"information_content":100.0}
{"id":"MONDO:0009308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous disease, chronic, autosomal recessive, cytochrome b-negative","equivalent_identifiers":["MONDO:0009308","DOID:0070193","OMIM:233690","UMLS:C1856255","MESH:C565533","medgen:383872"],"information_content":100.0}
{"id":"MONDO:0009309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1","equivalent_identifiers":["MONDO:0009309","DOID:0070192","OMIM:233700","UMLS:C1856251","MESH:C565532","NCIT:C154314","medgen:341102"],"information_content":100.0}
{"id":"MONDO:0009310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2","equivalent_identifiers":["MONDO:0009310","DOID:0070191","OMIM:233710","UMLS:C1856245","MESH:C565531","medgen:383869"],"information_content":100.0}
{"id":"MONDO:0009311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"grouped pigmentation of the retina","equivalent_identifiers":["MONDO:0009311","OMIM:233800","UMLS:C1856244","MESH:C565530","medgen:341100"],"information_content":100.0}
{"id":"MONDO:0009312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipodystrophy due to peptidic growth factors deficiency","equivalent_identifiers":["MONDO:0009312","OMIM:233805","orphanet:1979","UMLS:C2931279","MESH:C565529","SNOMEDCT:724176001","medgen:419375","icd11.foundation:1235390174"],"information_content":100.0}
{"id":"MONDO:0009313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Grubben-de Cock-Borghgraef syndrome","equivalent_identifiers":["MONDO:0009313","OMIM:233810","orphanet:2101","UMLS:C1856242","UMLS:C2931551","MESH:C537621","MESH:C565528","SNOMEDCT:763186006","medgen:419108"],"information_content":100.0}
{"id":"MONDO:0009315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital factor XII deficiency","equivalent_identifiers":["MONDO:0009315","DOID:2231","OMIM:234000","orphanet:330","UMLS:C0015526","MESH:D005175","MEDDRA:10051806","NCIT:C131740","SNOMEDCT:46981006","medgen:8772","HP:0004841"],"information_content":90.9}
{"id":"MONDO:0009318","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hallermann-Streiff syndrome","equivalent_identifiers":["MONDO:0009318","DOID:4534","OMIM:234100","orphanet:2108","UMLS:C0018522","MESH:D006210","NCIT:C84746","SNOMEDCT:7903009","medgen:5414"],"information_content":95.4}
{"id":"MONDO:0009319","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pantothenate kinase-associated neurodegeneration","equivalent_identifiers":["MONDO:0009319","DOID:3981","OMIM:234200","orphanet:157850","UMLS:C0018523","MESH:D006211","MEDDRA:10083280","NCIT:C84988","NCIT:C8967","SNOMEDCT:2992000","medgen:6708"],"information_content":92.8}
{"id":"MONDO:0009320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hall-Riggs syndrome","equivalent_identifiers":["MONDO:0009320","OMIM:234250","orphanet:2107","UMLS:C1856198","MESH:C535623","SNOMEDCT:721008000","medgen:341089"],"information_content":100.0}
{"id":"MONDO:0009321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hallux varus-preaxial polysyndactyly syndrome","equivalent_identifiers":["MONDO:0009321","OMIM:234280","orphanet:2110","UMLS:C1856197","MESH:C536885","SNOMEDCT:771180005","medgen:341088"],"information_content":100.0}
{"id":"MONDO:0009324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hartnup disease","equivalent_identifiers":["MONDO:0009324","DOID:1060","OMIM:234500","orphanet:2116","UMLS:C0018609","MESH:D006250","MEDDRA:10019165","NCIT:C84748","SNOMEDCT:80902009","medgen:6723","ICD10:E72.02"],"information_content":100.0}
{"id":"MONDO:0009326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital heart block","equivalent_identifiers":["MONDO:0009326","DOID:990","OMIM:234700","orphanet:60041","UMLS:C0149530","MESH:C535758","MEDDRA:10010494","MEDDRA:10019263","SNOMEDCT:46619002","medgen:57432","icd11.foundation:1096954866","ICD10:Q24.6","ICD9:746.86"],"information_content":100.0}
{"id":"MONDO:0009327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart, malformation of","equivalent_identifiers":["MONDO:0009327","OMIM:140500","OMIM:234750"],"information_content":100.0}
{"id":"MONDO:0009329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary venoocclusive disease 2","equivalent_identifiers":["MONDO:0009329","DOID:0081269","OMIM:234810","orphanet:199241","UMLS:C0340548","UMLS:C0340848","MESH:C535861","MEDDRA:10077389","MEDDRA:10077396","SNOMEDCT:233949008","SNOMEDCT:234161007","medgen:90956","HP:0005954"],"information_content":100.0}
{"id":"MONDO:0009330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemangiopericytoma, malignant","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009330","OMIM:234820","UMLS:C0334542","MESH:C562740","MEDDRA:10025566","MEDDRA:10025569","MEDDRA:10025571","MEDDRA:10060650","MEDDRA:10060654","NCIT:C4301","medgen:90803"],"information_content":83.6}
{"id":"MONDO:0009331","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated hemihyperplasia","equivalent_identifiers":["MONDO:0009331","OMIM:235000","orphanet:2128","UMLS:C1856184","MESH:C565524","medgen:383853"],"information_content":100.0}
{"id":"MONDO:0009333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mullerian derivatives-lymphangiectasia-polydactyly syndrome","equivalent_identifiers":["MONDO:0009333","OMIM:235255","orphanet:1655","UMLS:C1856159","MESH:C536478","medgen:343489"],"information_content":100.0}
{"id":"MONDO:0009334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic anemia with thermal sensitivity of red cells","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009334","OMIM:235370","UMLS:C1856158","MESH:C565522","medgen:343488"],"information_content":100.0}
{"id":"MONDO:0009335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic uremic syndrome, atypical, susceptibility to, 1","equivalent_identifiers":["MONDO:0009335","OMIM:235400","UMLS:C2749604","medgen:412743"],"information_content":92.8}
{"id":"MONDO:0009336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemosiderosis, pulmonary, with deficiency of gamma-a globulin","equivalent_identifiers":["MONDO:0009336","OMIM:235500"],"information_content":100.0}
{"id":"MONDO:0009337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hennekam lymphangiectasia-lymphedema syndrome 1","equivalent_identifiers":["MONDO:0009337","OMIM:235510","UMLS:C4012050","medgen:860487"],"information_content":100.0}
{"id":"MONDO:0009338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatic veno-occlusive disease-immunodeficiency syndrome","equivalent_identifiers":["MONDO:0009338","DOID:0112254","OMIM:235550","orphanet:79124","UMLS:C1856128","UMLS:C4510630","MESH:C537257","SNOMEDCT:724361001","medgen:344659","icd11.foundation:712514250"],"information_content":100.0}
{"id":"MONDO:0009339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bile acid synthesis defect 2","equivalent_identifiers":["MONDO:0009339","DOID:0111069","OMIM:235555","orphanet:79303","UMLS:C1856127","MESH:C535443","SNOMEDCT:238035000","medgen:383840"],"information_content":100.0}
{"id":"MONDO:0009340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-spherocytic hemolytic anemia due to hexokinase deficiency","equivalent_identifiers":["MONDO:0009340","DOID:0051006","OMIM:235700","orphanet:90031","UMLS:C3150343","UMLS:C3502059","MESH:C562995","medgen:461693"],"information_content":100.0}
{"id":"MONDO:0009341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mowat-Wilson syndrome","equivalent_identifiers":["MONDO:0009341","DOID:0060485","OMIM:235730","orphanet:2152","UMLS:C1856113","MESH:C536990","NCIT:C74999","SNOMEDCT:703535000","medgen:341067","icd11.foundation:1985672762"],"information_content":92.8}
{"id":"MONDO:0009342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease-hearing loss-polydactyly syndrome","equivalent_identifiers":["MONDO:0009342","OMIM:235740","orphanet:2155","UMLS:C1856112","UMLS:C2931452","MESH:C537235","MESH:C565518","SNOMEDCT:721221000","medgen:341066"],"information_content":100.0}
{"id":"MONDO:0009343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect","equivalent_identifiers":["MONDO:0009343","OMIM:235750","UMLS:C1856111","UMLS:C2931738","MESH:C538120","MESH:C565517","medgen:341065"],"information_content":100.0}
{"id":"MONDO:0009344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome","equivalent_identifiers":["MONDO:0009344","OMIM:235760","orphanet:2153","UMLS:C1856110","MESH:C535615","SNOMEDCT:721223002","medgen:344653"],"information_content":100.0}
{"id":"MONDO:0009345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"histidinemia","equivalent_identifiers":["MONDO:0009345","DOID:0060168","OMIM:235800","orphanet:2157","UMLS:C0220992","UMLS:C5886736","MESH:C538320","SNOMEDCT:124628005","SNOMEDCT:410058007","medgen:113135","icd11.foundation:261052955","HP:0010906"],"information_content":95.4}
{"id":"MONDO:0009346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Histidinuria","equivalent_identifiers":["MONDO:0009346","OMIM:235830","orphanet:2158","UMLS:C0268642","UMLS:C5399766","MESH:C538321","SNOMEDCT:78311009","medgen:82825","HP:0002927"],"information_content":95.4}
{"id":"MONDO:0009347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial lipochrome histiocytosis","equivalent_identifiers":["MONDO:0009347","OMIM:235900","UMLS:C0334125","MESH:C562738","SNOMEDCT:234577004","SNOMEDCT:28146005","medgen:90743"],"information_content":100.0}
{"id":"MONDO:0009348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hodgkin Disease","equivalent_identifiers":["MONDO:0009348","DOID:8642","OMIM:236000","orphanet:391","UMLS:C0019829","UMLS:C1333064","UMLS:C5235037","MEDDRA:10020206","MEDDRA:10020255","MEDDRA:10020309","MEDDRA:10020318","MEDDRA:10020328","MEDDRA:10020329","MEDDRA:10020339","MEDDRA:10025319","MEDDRA:10063666","MEDDRA:10080208","NCIT:C164145","NCIT:C26956","NCIT:C6914","NCIT:C7164","SNOMEDCT:1163005009","SNOMEDCT:118599009","SNOMEDCT:118602004","SNOMEDCT:118605002","SNOMEDCT:118606001","SNOMEDCT:14537002","SNOMEDCT:46923007","SNOMEDCT:70600005","SNOMEDCT:74189002","SNOMEDCT:762690000","SNOMEDCT:762691001","SNOMEDCT:836276000","SNOMEDCT:836277009","medgen:9283","icd11.foundation:1616050398","HP:0012189"],"information_content":73.0}
{"id":"MONDO:0009349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cyclocephaly","equivalent_identifiers":["MONDO:0009349","DOID:0110881","OMIM:236100","UMLS:C0266667","MESH:C562573","MEDDRA:10057648","NCIT:C124522","NCIT:C75476","SNOMEDCT:205798005","medgen:78617","HP:0009914"],"information_content":100.0}
{"id":"MONDO:0009350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Holzgreve-Wagner-Rehder syndrome","equivalent_identifiers":["MONDO:0009350","DOID:0060566","OMIM:236110","orphanet:2167","UMLS:C1856095","MESH:C535327","SNOMEDCT:783159001","medgen:344650"],"information_content":100.0}
{"id":"MONDO:0009351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"homocarnosinosis","equivalent_identifiers":["MONDO:0009351","DOID:0060177","OMIM:236130","UMLS:C0268632","UMLS:C3495554","MESH:C535328","SNOMEDCT:61764000","medgen:75703","icd11.foundation:166229372"],"information_content":95.4}
{"id":"MONDO:0009352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic homocystinuria","equivalent_identifiers":["MONDO:0009352","OMIM:236200","orphanet:394","UMLS:C0751202","UMLS:C3150344","MEDDRA:10071093","SNOMEDCT:24308003","medgen:199606"],"information_content":100.0}
{"id":"MONDO:0009353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"homocystinuria due to methylene tetrahydrofolate reductase deficiency","equivalent_identifiers":["MONDO:0009353","OMIM:236250","orphanet:395","UMLS:C0268615","UMLS:C1856059","UMLS:C1856061","MESH:C537357","MESH:C565512","MEDDRA:10070309","MEDDRA:10070316","NCIT:C84524","SNOMEDCT:41797007","medgen:343470"],"information_content":100.0}
{"id":"MONDO:0009354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylcobalamin deficiency type cblE","equivalent_identifiers":["MONDO:0009354","DOID:0050732","DOID:0112255","OMIM:236270","orphanet:2169","EFO:0005568","UMLS:C1856057","MESH:C565510","NCIT:C142173","SNOMEDCT:1296847007","medgen:344640"],"information_content":100.0}
{"id":"MONDO:0009355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hooft disease","equivalent_identifiers":["MONDO:0009355","OMIM:236300","UMLS:C0268479","MESH:C535329","SNOMEDCT:32123005","medgen:75686"],"information_content":100.0}
{"id":"MONDO:0009356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive humeroradial synostosis","equivalent_identifiers":["MONDO:0009356","OMIM:236400","UMLS:C1856055","UMLS:C5975703","MESH:C565509","medgen:343467"],"information_content":100.0}
{"id":"MONDO:0009358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hutterite cerebroosteonephrodysplasia syndrome","equivalent_identifiers":["MONDO:0009358","OMIM:236450","UMLS:C1856054","MESH:C536074","medgen:343466"],"information_content":100.0}
{"id":"MONDO:0009359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","equivalent_identifiers":["MONDO:0009359","DOID:0080327","OMIM:236500","orphanet:500135","UMLS:C1856053","MESH:C565507","SNOMEDCT:1169358003","medgen:343465"],"information_content":100.0}
{"id":"MONDO:0009360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrocephalus, nonsyndromic, autosomal recessive 1","equivalent_identifiers":["MONDO:0009360","OMIM:236600","UMLS:C1531647","UMLS:C3887608","MEDDRA:10068352","NCIT:C50803","SNOMEDCT:413808003","medgen:854455"],"information_content":100.0}
{"id":"MONDO:0009361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius","equivalent_identifiers":["MONDO:0009361","OMIM:236635","UMLS:C0266476","UMLS:C0431355","UMLS:C2936786","MEDDRA:10067575","SNOMEDCT:302882002","SNOMEDCT:50429003","medgen:608953","HP:0002410"],"information_content":92.8}
{"id":"MONDO:0009362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth delay-hydrocephaly-lung hypoplasia syndrome","equivalent_identifiers":["MONDO:0009362","OMIM:236640","orphanet:3035","UMLS:C1856052","MESH:C535406","SNOMEDCT:716198008","medgen:344639"],"information_content":100.0}
{"id":"MONDO:0009363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrocephaly-tall stature-joint laxity syndrome","equivalent_identifiers":["MONDO:0009363","OMIM:236660","orphanet:2181","UMLS:C1856051","MESH:C535770","SNOMEDCT:732926009","medgen:383828"],"information_content":100.0}
{"id":"MONDO:0009364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1","equivalent_identifiers":["MONDO:0009364","DOID:0111237","OMIM:236670","UMLS:C4284790","NCIT:C128118","medgen:924974"],"information_content":100.0}
{"id":"MONDO:0009365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrolethalus syndrome 1","equivalent_identifiers":["MONDO:0009365","DOID:0111355","OMIM:236680","UMLS:C1856016","MESH:C565504","medgen:343455"],"information_content":100.0}
{"id":"MONDO:0009366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"normal pressure hydrocephalus","equivalent_identifiers":["MONDO:0009366","DOID:1572","OMIM:236690","EFO:1001065","UMLS:C0020258","UMLS:C5231392","MESH:D006850","MEDDRA:10029773","MEDDRA:10029774","SNOMEDCT:30753002","medgen:42526","ICD10:G91.2","HP:0002343"],"information_content":100.0}
{"id":"MONDO:0009367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"McKusick-Kaufman syndrome","equivalent_identifiers":["MONDO:0009367","DOID:0111255","OMIM:236700","orphanet:2473","UMLS:C0948368","MESH:C538159","MEDDRA:10052312","SNOMEDCT:702407009","medgen:184924"],"information_content":100.0}
{"id":"MONDO:0009368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urofacial syndrome type 1","equivalent_identifiers":["MONDO:0009368","OMIM:236730"],"information_content":100.0}
{"id":"MONDO:0009369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-immune hydrops fetalis","equivalent_identifiers":["MONDO:0009369","OMIM:236750","orphanet:363999","UMLS:C0455988","MEDDRA:10020528","MEDDRA:10058189","NCIT:C111905","SNOMEDCT:206538000","SNOMEDCT:276509008","medgen:105327","icd11.foundation:1182287637","HP:0001790"],"information_content":95.4}
{"id":"MONDO:0009370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"L-2-hydroxyglutaric aciduria","equivalent_identifiers":["MONDO:0009370","DOID:0050574","OMIM:236792","orphanet:79314","UMLS:C1855995","SNOMEDCT:237961001","medgen:341029","icd11.foundation:562958433","HP:0040144"],"information_content":100.0}
{"id":"MONDO:0009371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-hydroxyisobutyric aciduria","equivalent_identifiers":["MONDO:0009371","OMIM:236795","orphanet:939","UMLS:C0342737","MESH:C535312","SNOMEDCT:237957007","medgen:90996","icd11.foundation:1293648631"],"information_content":100.0}
{"id":"MONDO:0009372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy due to hydroxykynureninuria","equivalent_identifiers":["MONDO:0009372","DOID:0112257","OMIM:236800","orphanet:79155","UMLS:C0268474","MESH:C536081","SNOMEDCT:17820009","SNOMEDCT:33116002","SNOMEDCT:72945002","medgen:78681","icd11.foundation:1145853843"],"information_content":100.0}
{"id":"MONDO:0009373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures-intellectual disability due to hydroxylysinuria syndrome","equivalent_identifiers":["MONDO:0009373","OMIM:236900","orphanet:79156","UMLS:C1855986","MESH:C565502","medgen:343450","HP:0032414"],"information_content":100.0}
{"id":"MONDO:0009374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydroxyprolinemia","equivalent_identifiers":["MONDO:0009374","OMIM:237000","UMLS:C0268531","MESH:C562669","MEDDRA:10053148","MEDDRA:10060480","SNOMEDCT:25739007","medgen:75691","HP:0003260"],"information_content":100.0}
{"id":"MONDO:0009375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hymen, imperforate","equivalent_identifiers":["MONDO:0009375","OMIM:237100","UMLS:C0152436","MESH:C562397","MEDDRA:10021529","SNOMEDCT:65937002","medgen:57775","HP:0030011"],"information_content":100.0}
{"id":"MONDO:0009376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carbamoyl phosphate synthetase I deficiency disease","equivalent_identifiers":["MONDO:0009376","DOID:9280","OMIM:237300","orphanet:147","EFO:0007193","UMLS:C0751753","UMLS:C4082171","MESH:D020165","MEDDRA:10058297","MEDDRA:10071106","NCIT:C84612","SNOMEDCT:62522004","SNOMEDCT:765329008","medgen:907954","icd11.foundation:327894003"],"information_content":100.0}
{"id":"MONDO:0009377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperammonemia due to N-acetylglutamate synthase deficiency","equivalent_identifiers":["MONDO:0009377","DOID:0112258","OMIM:237310","orphanet:927","UMLS:C0268543","MESH:C536109","MEDDRA:10071092","NCIT:C129307","SNOMEDCT:57119000","medgen:120649"],"information_content":100.0}
{"id":"MONDO:0009378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperalaninemia","equivalent_identifiers":["MONDO:0009378","OMIM:237400","orphanet:309147","UMLS:C0268630","UMLS:C1839424","UMLS:C1849489","MESH:C562684","SNOMEDCT:2359002","medgen:75702","HP:0003348"],"information_content":95.4}
{"id":"MONDO:0009379","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rotor syndrome","equivalent_identifiers":["MONDO:0009379","OMIM:237450","orphanet:3111","UMLS:C0220991","MEDDRA:10039234","SNOMEDCT:32891000","medgen:67435","icd11.foundation:1965776012"],"information_content":100.0}
{"id":"MONDO:0009380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dubin-Johnson syndrome","equivalent_identifiers":["MONDO:0009380","DOID:12308","OMIM:237500","orphanet:234","UMLS:C0022350","MESH:D007566","MEDDRA:10013800","NCIT:C34741","SNOMEDCT:44553005","medgen:7181","icd11.foundation:1691610999","ICD10:E80.6"],"information_content":100.0}
{"id":"MONDO:0009381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperbilirubinemia, conjugated, type 3","equivalent_identifiers":["MONDO:0009381","OMIM:237550","UMLS:C0400964","MESH:C562885","SNOMEDCT:235906009","medgen:98323"],"information_content":100.0}
{"id":"MONDO:0009382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperbilirubinemia, shunt, primary","equivalent_identifiers":["MONDO:0009382","OMIM:237800","UMLS:C3550398","medgen:763312"],"information_content":100.0}
{"id":"MONDO:0009383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient familial neonatal hyperbilirubinemia","equivalent_identifiers":["MONDO:0009383","OMIM:237900","orphanet:2312","UMLS:C0270210","UMLS:C0270215","MESH:C562692","MEDDRA:10072192","NCIT:C98846","SNOMEDCT:47444008","SNOMEDCT:82696006","medgen:75718"],"information_content":100.0}
{"id":"MONDO:0009384","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leydig cell hypoplasia, type 1","equivalent_identifiers":["MONDO:0009384","OMIM:238320","UMLS:C0266432","UMLS:C2673497","UMLS:C3668935","MEDDRA:10024405","SNOMEDCT:56212008","medgen:120576"],"information_content":92.8}
{"id":"MONDO:0009385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperleucine-Isoleucinemia","equivalent_identifiers":["MONDO:0009385","OMIM:238340","UMLS:C0268574","MESH:C562674","SNOMEDCT:7046009","medgen:82821"],"information_content":100.0}
{"id":"MONDO:0009386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlexia","equivalent_identifiers":["MONDO:0009386","OMIM:238350","UMLS:C1855928","MESH:C565500","medgen:341011"],"information_content":100.0}
{"id":"MONDO:0009387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial lipoprotein lipase deficiency","equivalent_identifiers":["MONDO:0009387","DOID:14118","OMIM:238600","orphanet:309015","UMLS:C0023817","UMLS:C1969232","MESH:D008072","MEDDRA:10064612","MEDDRA:10064705","MEDDRA:10084113","NCIT:C84771","SNOMEDCT:267435002","SNOMEDCT:275598004","SNOMEDCT:403827000","medgen:7352","icd11.foundation:1829539217","ICD9:272.3"],"information_content":100.0}
{"id":"MONDO:0009388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlysinemia","equivalent_identifiers":["MONDO:0009388","DOID:9274","OMIM:238700","orphanet:2203","UMLS:C0268553","UMLS:C0543533","UMLS:C1527317","MESH:D020167","MEDDRA:10081311","MEDDRA:10081312","NCIT:C123433","SNOMEDCT:58558003","medgen:82816","ICD10:E72.3","HP:0002161"],"information_content":95.4}
{"id":"MONDO:0009389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlysinemia due to defect in lysine transport into mitochondria","equivalent_identifiers":["MONDO:0009389","OMIM:238710","UMLS:C1855927","MESH:C565499","medgen:341010"],"information_content":100.0}
{"id":"MONDO:0009390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlysinuria with hyperammonemia","equivalent_identifiers":["MONDO:0009390","OMIM:238750","UMLS:C0268555","SNOMEDCT:341536001","SNOMEDCT:342553006","medgen:120650"],"information_content":100.0}
{"id":"MONDO:0009392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperopia, high","equivalent_identifiers":["MONDO:0009392","OMIM:238950","UMLS:C1855925","UMLS:C4024665","MESH:C565497","medgen:341009","HP:0008499"],"information_content":95.4}
{"id":"MONDO:0009393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HHH syndrome","equivalent_identifiers":["MONDO:0009393","DOID:0050720","OMIM:238970","orphanet:415","UMLS:C0268540","MESH:C538380","MEDDRA:10084220","MEDDRA:10084222","MEDDRA:10084223","MEDDRA:10084224","MEDDRA:10084225","NCIT:C129029","SNOMEDCT:30287008","medgen:82815"],"information_content":100.0}
{"id":"MONDO:0009394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile Paget disease","equivalent_identifiers":["MONDO:0009394","DOID:0081368","OMIM:239000","orphanet:2801","UMLS:C0268414","MESH:C537701","MEDDRA:10078977","NCIT:C131861","SNOMEDCT:9723006","medgen:75678","icd11.foundation:762002965"],"information_content":100.0}
{"id":"MONDO:0009395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperostosis corticalis generalisata","equivalent_identifiers":["MONDO:0009395","DOID:0080036","OMIM:239100","orphanet:3416","UMLS:C0432272","NCIT:C131812","SNOMEDCT:59763006","medgen:98484","icd11.foundation:241514592"],"information_content":100.0}
{"id":"MONDO:0009396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperparathyroidism, neonatal self-limited primary, with hypercalciuria","equivalent_identifiers":["MONDO:0009396","OMIM:239199","UMLS:C1855924","MESH:C565496","medgen:344611"],"information_content":100.0}
{"id":"MONDO:0009397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal severe primary hyperparathyroidism","equivalent_identifiers":["MONDO:0009397","OMIM:239200","orphanet:417","UMLS:C1832615","MESH:C563375","NCIT:C131853","SNOMEDCT:715218009","medgen:331326","icd11.foundation:1929875111"],"information_content":100.0}
{"id":"MONDO:0009398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperphosphatasia with intellectual disability syndrome 1","equivalent_identifiers":["MONDO:0009398","DOID:0070433","OMIM:239300","UMLS:C4551502","medgen:1647044"],"information_content":100.0}
{"id":"MONDO:0009400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperprolinemia type 1","equivalent_identifiers":["MONDO:0009400","DOID:0080542","OMIM:239500","orphanet:419","UMLS:C0268529","MEDDRA:10058511","MEDDRA:10058513","SNOMEDCT:61071003","medgen:120645"],"information_content":100.0}
{"id":"MONDO:0009401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperprolinemia type 2","equivalent_identifiers":["MONDO:0009401","DOID:0080543","OMIM:239510","orphanet:79101","UMLS:C2931835","MESH:C538385","MEDDRA:10058512","MEDDRA:10058514","SNOMEDCT:124177001","SNOMEDCT:717181004","medgen:419175"],"information_content":100.0}
{"id":"MONDO:0009402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrofrontofacionasal dysostosis 2","equivalent_identifiers":["MONDO:0009402","OMIM:239710","orphanet:2211","UMLS:C1855904","MESH:C538332","SNOMEDCT:721835008","medgen:383797"],"information_content":100.0}
{"id":"MONDO:0009404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertelorism, microtia, facial clefting syndrome","equivalent_identifiers":["MONDO:0009404","DOID:14670","OMIM:239800","orphanet:2213","UMLS:C0220742","MESH:C537632","SNOMEDCT:721836009","medgen:113104"],"information_content":100.0}
{"id":"MONDO:0009405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical hypertrichosis-peripheral neuropathy syndrome","equivalent_identifiers":["MONDO:0009405","OMIM:239840","orphanet:2218","UMLS:C1855902","MESH:C565492","medgen:341004"],"information_content":100.0}
{"id":"MONDO:0009406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cantu syndrome","equivalent_identifiers":["MONDO:0009406","DOID:0060569","OMIM:239850","orphanet:1517","UMLS:C0795905","MESH:C535572","SNOMEDCT:239087008","medgen:208647"],"information_content":100.0}
{"id":"MONDO:0009407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic neuropathy and cataract","equivalent_identifiers":["MONDO:0009407","OMIM:239900","UMLS:C1855885","MESH:C565490","medgen:344602"],"information_content":100.0}
{"id":"MONDO:0009408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase","equivalent_identifiers":["MONDO:0009408","OMIM:240000","UMLS:C1855884","MESH:C565489","medgen:383794"],"information_content":100.0}
{"id":"MONDO:0009411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune polyendocrine syndrome type 1","equivalent_identifiers":["MONDO:0009411","DOID:0050167","OMIM:240300","orphanet:3453","UMLS:C0085859","UMLS:C1855868","UMLS:C1855869","MEDDRA:10036072","NCIT:C129727","SNOMEDCT:11244009","medgen:39125"],"information_content":100.0}
{"id":"MONDO:0009412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scurvy","equivalent_identifiers":["MONDO:0009412","DOID:13577","DOID:13724","OMIM:240400","EFO:1000822","EFO:1001169","UMLS:C0003969","UMLS:C0036474","UMLS:C1855867","UMLS:C5574898","UMLS:C5887116","MESH:C565486","MESH:D001206","MESH:D012614","MEDDRA:10003454","MEDDRA:10039768","MEDDRA:10047623","NCIT:C35010","SNOMEDCT:76169001","medgen:20684","icd11.foundation:708602629","ICD10:E54","HP:0100510"],"information_content":100.0}
{"id":"MONDO:0009414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disorder due to hepatic glycogen synthase deficiency","equivalent_identifiers":["MONDO:0009414","OMIM:240600","orphanet:2089","UMLS:C0342748","UMLS:C1855861","MESH:C565485","SNOMEDCT:237964009","medgen:343430"],"information_content":100.0}
{"id":"MONDO:0009415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoglycemia, leucine-induced","equivalent_identifiers":["MONDO:0009415","DOID:0112262","OMIM:240800","EFO:0006856","UMLS:C0271714","MESH:C537150","SNOMEDCT:62151007","medgen:82888"],"information_content":100.0}
{"id":"MONDO:0009416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoinsulinemic hypoglycemia and body hemihypertrophy","equivalent_identifiers":["MONDO:0009416","DOID:0112263","OMIM:240900","orphanet:293964","UMLS:C3278384","medgen:480014"],"information_content":100.0}
{"id":"MONDO:0009417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypergonadotropic hypogonadism-cataract syndrome","equivalent_identifiers":["MONDO:0009417","OMIM:240950","orphanet:2410","UMLS:C1855859","MESH:C543092","SNOMEDCT:721233005","medgen:344596"],"information_content":100.0}
{"id":"MONDO:0009418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadism with low-grade mental deficiency and microcephaly","equivalent_identifiers":["MONDO:0009418","OMIM:241000","UMLS:C1855858","MESH:C565482","medgen:383787"],"information_content":100.0}
{"id":"MONDO:0009419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Woodhouse-Sakati syndrome","equivalent_identifiers":["MONDO:0009419","DOID:0112264","OMIM:241080","orphanet:3464","UMLS:C0342286","MESH:C536742","MEDDRA:10082379","SNOMEDCT:237616002","SNOMEDCT:816067005","medgen:83337","icd11.foundation:1893572805"],"information_content":100.0}
{"id":"MONDO:0009420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary hypergonadotropic hypogonadism-partial alopecia syndrome","equivalent_identifiers":["MONDO:0009420","OMIM:241090","orphanet:2232","UMLS:C2673480","UMLS:C2931374","MESH:C536949","MESH:C567109","SNOMEDCT:719275009","medgen:388650"],"information_content":100.0}
{"id":"MONDO:0009421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadism, male","equivalent_identifiers":["MONDO:0009421","OMIM:241100","UMLS:C0151721","UMLS:C2673479","MESH:C567108","MEDDRA:10015532","MEDDRA:10021011","MEDDRA:10043315","MEDDRA:10043316","MEDDRA:10043335","NCIT:C131080","SNOMEDCT:48723006","medgen:57480","HP:0000026"],"information_content":90.9}
{"id":"MONDO:0009422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypohidrosis with abnormal palmar dermal Ridges","equivalent_identifiers":["MONDO:0009422","OMIM:241120","UMLS:C1855856","MESH:C565481","medgen:340989"],"information_content":100.0}
{"id":"MONDO:0009423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypokalemic alkalosis, familial, with specific renal tubulopathy","equivalent_identifiers":["MONDO:0009423","OMIM:241150","UMLS:C0268444","MESH:C562654","SNOMEDCT:81987005","medgen:78677"],"information_content":100.0}
{"id":"MONDO:0009424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartter disease type 2","equivalent_identifiers":["MONDO:0009424","DOID:0110143","OMIM:241200","orphanet:620220","UMLS:C1855849","MESH:C537651","SNOMEDCT:700109009","medgen:343428"],"information_content":100.0}
{"id":"MONDO:0009425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomandibular faciocranial dysostosis","equivalent_identifiers":["MONDO:0009425","OMIM:241310","orphanet:1790","UMLS:C1855848","MESH:C537154","SNOMEDCT:721845005","medgen:343427"],"information_content":100.0}
{"id":"MONDO:0009426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoparathyroidism-retardation-dysmorphism syndrome","equivalent_identifiers":["MONDO:0009426","DOID:0060348","OMIM:241410","orphanet:2323","UMLS:C1855840","MESH:C537157","NCIT:C133727","SNOMEDCT:1197148005","medgen:340984"],"information_content":100.0}
{"id":"MONDO:0009430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemic rickets, autosomal recessive, 1","equivalent_identifiers":["MONDO:0009430","OMIM:241520","UMLS:C4551495","MESH:C562792","medgen:1632314"],"information_content":100.0}
{"id":"MONDO:0009431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary hypophosphatemic rickets with hypercalciuria","equivalent_identifiers":["MONDO:0009431","DOID:0050947","OMIM:241530","orphanet:157215","UMLS:C1853271","MESH:C562793","NCIT:C131450","SNOMEDCT:237891005","SNOMEDCT:726081005","medgen:501133"],"information_content":100.0}
{"id":"MONDO:0009433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoplastic left heart syndrome 1","equivalent_identifiers":["MONDO:0009433","OMIM:241550","UMLS:C4551854","medgen:1646779"],"information_content":100.0}
{"id":"MONDO:0009434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoproteinemia, hypercatabolic","equivalent_identifiers":["MONDO:0009434","DOID:0111981","OMIM:241600","UMLS:C1855796","MESH:C565476","medgen:343422"],"information_content":100.0}
{"id":"MONDO:0009435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypospadias-intellectual disability, Goldblatt type syndrome","equivalent_identifiers":["MONDO:0009435","OMIM:241760","orphanet:2261","UMLS:C0795989","UMLS:C4274844","MESH:C563067","SNOMEDCT:716096005","medgen:162896"],"information_content":100.0}
{"id":"MONDO:0009436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital hypothalamic hamartoma syndrome","equivalent_identifiers":["MONDO:0009436","OMIM:241800","UMLS:C0342418","UMLS:C5435677","MESH:C537158","MEDDRA:10078217","NCIT:C4385","SNOMEDCT:237714006","medgen:137970","icd11.foundation:2057991470","HP:0002444"],"information_content":100.0}
{"id":"MONDO:0009437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bamforth-Lazarus syndrome","equivalent_identifiers":["MONDO:0009437","DOID:0050655","OMIM:241850","orphanet:1226","UMLS:C1855794","MESH:C537901","MEDDRA:10090559","SNOMEDCT:722375007","medgen:343420","icd11.foundation:1747690671"],"information_content":100.0}
{"id":"MONDO:0009438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypouricemia, hypercalcinuria, and decreased bone density","equivalent_identifiers":["MONDO:0009438","OMIM:242050","UMLS:C1855793","MESH:C565475","medgen:343419"],"information_content":100.0}
{"id":"MONDO:0009439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis 2","equivalent_identifiers":["MONDO:0009439","DOID:0060710","OMIM:242100","UMLS:C3888093","NCIT:C132827","medgen:854762"],"information_content":100.0}
{"id":"MONDO:0009440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosiform erythroderma, corneal involvement, and hearing loss","equivalent_identifiers":["MONDO:0009440","OMIM:242150","UMLS:C1275089","MESH:C537363","SNOMEDCT:403780007","medgen:224809"],"information_content":100.0}
{"id":"MONDO:0009441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Collodion Fetus","equivalent_identifiers":["MONDO:0009441","DOID:0060656","OMIM:242300","UMLS:C3536797","UMLS:C3543867","UMLS:C4551630","MESH:D017490","medgen:1635401"],"information_content":100.0}
{"id":"MONDO:0009443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis 4B","equivalent_identifiers":["MONDO:0009443","DOID:0060713","OMIM:242500","orphanet:457","UMLS:C0598226","MESH:C538424","MEDDRA:10087827","NCIT:C98934","SNOMEDCT:205548006","medgen:108615","ICD10:Q80.4"],"information_content":100.0}
{"id":"MONDO:0009444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome","equivalent_identifiers":["MONDO:0009444","OMIM:242510","orphanet:2269","UMLS:C1855788","MESH:C537364","SNOMEDCT:763404001","medgen:344577"],"information_content":100.0}
{"id":"MONDO:0009445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome","equivalent_identifiers":["MONDO:0009445","OMIM:242520","orphanet:2274","UMLS:C1275088","MESH:C535727","SNOMEDCT:403779009","medgen:266150"],"information_content":100.0}
{"id":"MONDO:0009446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","equivalent_identifiers":["MONDO:0009446","OMIM:242530","orphanet:2278","UMLS:C1855787","MESH:C536274","medgen:340966"],"information_content":100.0}
{"id":"MONDO:0009447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis, split hairs, and amino aciduria","equivalent_identifiers":["MONDO:0009447","OMIM:242550","UMLS:C1855786","MESH:C565471","medgen:344576"],"information_content":100.0}
{"id":"MONDO:0009448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iminoglycinuria","equivalent_identifiers":["MONDO:0009448","DOID:0112265","OMIM:242600","orphanet:42062","UMLS:C0268654","MESH:C536285","SNOMEDCT:84121007","medgen:124342","icd11.foundation:664428532"],"information_content":100.0}
{"id":"MONDO:0009449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary dyskinesia with defective radial spokes","equivalent_identifiers":["MONDO:0009449","OMIM:242670","UMLS:C0340035","MESH:C536286","SNOMEDCT:233664005","medgen:137933"],"information_content":100.0}
{"id":"MONDO:0009451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thymic aplasia","equivalent_identifiers":["MONDO:0009451","DOID:2012","OMIM:242700","orphanet:83471","UMLS:C0152094","UMLS:C0685894","UMLS:C1744558","UMLS:C4531018","MESH:C536288","MEDDRA:10029397","MEDDRA:10043662","MEDDRA:10048801","SNOMEDCT:1003550007","SNOMEDCT:398055000","SNOMEDCT:55602000","SNOMEDCT:702623002","SNOMEDCT:91918005","medgen:101814","icd11.foundation:215376282","ICD10:D81.4","ICD9:279.13","HP:0005359"],"information_content":100.0}
{"id":"MONDO:0009452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vici syndrome","equivalent_identifiers":["MONDO:0009452","DOID:0060356","OMIM:242840","orphanet:1493","UMLS:C1855772","MESH:C535566","NCIT:C138174","SNOMEDCT:719824001","medgen:340962"],"information_content":100.0}
{"id":"MONDO:0009454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency-centromeric instability-facial anomalies syndrome 1","equivalent_identifiers":["MONDO:0009454","DOID:0090008","OMIM:242860","UMLS:C4551557","NCIT:C156430","medgen:1636193"],"information_content":100.0}
{"id":"MONDO:0009456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Immunoerythromyeloid hypoplasia","equivalent_identifiers":["MONDO:0009456","OMIM:242880"],"information_content":100.0}
{"id":"MONDO:0009457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunoglobulin d level in plasma, low","equivalent_identifiers":["MONDO:0009457","OMIM:242890","UMLS:C1855761","medgen:344569"],"information_content":100.0}
{"id":"MONDO:0009458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schimke immuno-osseous dysplasia","equivalent_identifiers":["MONDO:0009458","DOID:0060490","OMIM:242900","orphanet:1830","UMLS:C0877024","MESH:C536629","MEDDRA:10048699","NCIT:C135087","SNOMEDCT:723995003","medgen:164078","icd11.foundation:2002226225"],"information_content":100.0}
{"id":"MONDO:0009459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"channelopathy-associated congenital insensitivity to pain, autosomal recessive","equivalent_identifiers":["MONDO:0009459","OMIM:243000","orphanet:88642","UMLS:C1855739","MESH:C565467","medgen:344563"],"information_content":100.0}
{"id":"MONDO:0009461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 5","equivalent_identifiers":["MONDO:0009461","DOID:0070183","OMIM:243060","orphanet:137893","UMLS:C0403812","MESH:C562903","SNOMEDCT:236806004","medgen:98020"],"information_content":100.0}
{"id":"MONDO:0009462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inosine phosphorylase deficiency, immune defect due to","equivalent_identifiers":["MONDO:0009462","OMIM:243080","UMLS:C1855737","MESH:C565465","medgen:344562"],"information_content":100.0}
{"id":"MONDO:0009463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"internal carotid arteries, hypoplasia of","equivalent_identifiers":["MONDO:0009463","OMIM:243100","UMLS:C1855736","UMLS:C4280491","UMLS:C4280492","UMLS:C4280493","medgen:383757","HP:0005290"],"information_content":100.0}
{"id":"MONDO:0009464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency with defective T-cell response to interleukin 1","equivalent_identifiers":["MONDO:0009464","OMIM:243110","UMLS:C1855735","medgen:340948"],"information_content":100.0}
{"id":"MONDO:0009465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple intestinal atresia","equivalent_identifiers":["MONDO:0009465","DOID:14671","orphanet:2300","UMLS:C0220744","MESH:C562441","MEDDRA:10028210","SNOMEDCT:95472001","medgen:65090"],"information_content":100.0}
{"id":"MONDO:0009467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"natal teeth-intestinal pseudoobstruction-patent ductus syndrome","equivalent_identifiers":["MONDO:0009467","OMIM:243185","UMLS:C1855732","MESH:C538341","medgen:340945"],"information_content":100.0}
{"id":"MONDO:0009468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudotumor cerebri","equivalent_identifiers":["MONDO:0009468","DOID:11459","OMIM:243200","orphanet:238624","EFO:1001132","UMLS:C0033845","MESH:D011559","MEDDRA:10004277","MEDDRA:10037149","MEDDRA:10073807","MEDDRA:10078904","NCIT:C85035","SNOMEDCT:68267002","medgen:18732","ICD10:G93.2","ICD9:348.2"],"information_content":100.0}
{"id":"MONDO:0009469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign recurrent intrahepatic cholestasis type 1","equivalent_identifiers":["MONDO:0009469","DOID:0070231","OMIM:243300","orphanet:99960","UMLS:C4551899","medgen:1637492"],"information_content":100.0}
{"id":"MONDO:0009470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Baraitser-Winter syndrome 1","equivalent_identifiers":["MONDO:0009470","DOID:0081112","OMIM:243310","UMLS:C1855722","MESH:C565462","medgen:340943"],"information_content":100.0}
{"id":"MONDO:0009471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intrinsic factor and r binder, combined congenital deficiency of","equivalent_identifiers":["MONDO:0009471","OMIM:243320","UMLS:C1855721","MESH:C565461","medgen:340942"],"information_content":100.0}
{"id":"MONDO:0009472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acetylation, slow","equivalent_identifiers":["MONDO:0009472","OMIM:243400","UMLS:C0878587","UMLS:C2673468","UMLS:C2673470","medgen:164207"],"information_content":100.0}
{"id":"MONDO:0009473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isotretinoin-like syndrome","equivalent_identifiers":["MONDO:0009473","OMIM:243440","orphanet:2306","UMLS:C0432364","MESH:C535542","SNOMEDCT:722006004","medgen:96600"],"information_content":95.4}
{"id":"MONDO:0009474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isovaleric acid, inability to smell","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009474","OMIM:243450","UMLS:C1855714","medgen:383751"],"information_content":100.0}
{"id":"MONDO:0009475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isovaleric acidemia","equivalent_identifiers":["MONDO:0009475","DOID:14753","OMIM:243500","orphanet:33","UMLS:C0268575","MESH:C538167","MEDDRA:10083852","MEDDRA:10083874","NCIT:C98964","SNOMEDCT:87827003","medgen:82822","ICD10:E71.110"],"information_content":100.0}
{"id":"MONDO:0009476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jejunal Atresia","equivalent_identifiers":["MONDO:0009476","OMIM:243600","orphanet:1201","UMLS:C0266172","UMLS:C0266175","MESH:C538260","MEDDRA:10010626","NCIT:C101027","NCIT:C98828","SNOMEDCT:204702007","SNOMEDCT:360491009","SNOMEDCT:84296002","medgen:78590","icd11.foundation:1949256262","HP:0005235"],"information_content":90.9}
{"id":"MONDO:0009477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stromme syndrome","equivalent_identifiers":["MONDO:0009477","DOID:0110595","OMIM:243605","orphanet:444069","orphanet:506307","EFO:0009160","UMLS:C1855705","MESH:C565460","SNOMEDCT:1187120008","medgen:340938"],"information_content":100.0}
{"id":"MONDO:0009478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to DOCK8 deficiency","equivalent_identifiers":["MONDO:0009478","DOID:0080594","OMIM:243700","orphanet:217390","UMLS:C4722305","NCIT:C126343","medgen:1648410","icd11.foundation:136043326"],"information_content":100.0}
{"id":"MONDO:0009479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Johanson-Blizzard syndrome","equivalent_identifiers":["MONDO:0009479","DOID:14694","OMIM:243800","orphanet:2315","UMLS:C0175692","UMLS:C1850081","MESH:C535880","MESH:C564907","MEDDRA:10074947","SNOMEDCT:75979009","medgen:59798","icd11.foundation:1427330812"],"information_content":100.0}
{"id":"MONDO:0009480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Arima syndrome","equivalent_identifiers":["MONDO:0009480","OMIM:243910","orphanet:2318","UMLS:C1855675","MESH:C537430","SNOMEDCT:721862000","medgen:340930","icd11.foundation:397835469"],"information_content":88.2}
{"id":"MONDO:0009481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jumping Frenchmen of Maine","equivalent_identifiers":["MONDO:0009481","OMIM:244100","UMLS:C1280764","SNOMEDCT:267414004","medgen:224824"],"information_content":100.0}
{"id":"MONDO:0009482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 3 with or without anosmia","equivalent_identifiers":["MONDO:0009482","DOID:0090092","OMIM:244200","UMLS:C3550478","medgen:763392"],"information_content":100.0}
{"id":"MONDO:0009483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kapur-Toriello syndrome","equivalent_identifiers":["MONDO:0009483","OMIM:244300","orphanet:2328","UMLS:C0796005","MESH:C537008","SNOMEDCT:722031003","medgen:208654"],"information_content":100.0}
{"id":"MONDO:0009484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 1","equivalent_identifiers":["MONDO:0009484","DOID:0110594","OMIM:244400","UMLS:C4551906","NCIT:C128117","medgen:1646059","ICD10:Q34.8"],"information_content":100.0}
{"id":"MONDO:0009485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocerebrofacial syndrome, Kaufman type","equivalent_identifiers":["MONDO:0009485","DOID:0111456","OMIM:244450","orphanet:2707","UMLS:C1855663","MESH:C537013","SNOMEDCT:722056009","medgen:343403"],"information_content":100.0}
{"id":"MONDO:0009486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive Kenny-Caffey syndrome","equivalent_identifiers":["MONDO:0009486","DOID:0080722","OMIM:244460","orphanet:93324","UMLS:C1855648","MESH:C537021","NCIT:C130992","medgen:340923"],"information_content":100.0}
{"id":"MONDO:0009488","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconus posticus circumscriptus","equivalent_identifiers":["MONDO:0009488","OMIM:244600","UMLS:C1855645","UMLS:C1855646","MESH:C536151","MESH:C565455","medgen:340922"],"information_content":100.0}
{"id":"MONDO:0009490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Papillon-Lefevre disease","equivalent_identifiers":["MONDO:0009490","DOID:3389","OMIM:245000","orphanet:678","UMLS:C0030360","MESH:D010214","MEDDRA:10082856","NCIT:C84992","SNOMEDCT:40158001","medgen:45306"],"information_content":100.0}
{"id":"MONDO:0009491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Haim-Munk syndrome","equivalent_identifiers":["MONDO:0009491","OMIM:245010","orphanet:2342","UMLS:C1855627","MESH:C537627","SNOMEDCT:719973009","medgen:344539"],"information_content":100.0}
{"id":"MONDO:0009492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"succinyl-CoA:3-ketoacid CoA transferase deficiency","equivalent_identifiers":["MONDO:0009492","OMIM:245050","orphanet:832","UMLS:C0342792","MESH:C537527","SNOMEDCT:238004006","medgen:137979"],"information_content":100.0}
{"id":"MONDO:0009493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Richards-Rundle syndrome","equivalent_identifiers":["MONDO:0009493","OMIM:245100","orphanet:1399","UMLS:C0796136","MESH:C535674","SNOMEDCT:715415005","medgen:163219","icd11.foundation:114583632"],"information_content":100.0}
{"id":"MONDO:0009495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Keutel syndrome","equivalent_identifiers":["MONDO:0009495","OMIM:245150","orphanet:85202","UMLS:C1855607","MESH:C536167","SNOMEDCT:724208006","medgen:383722","icd11.foundation:1083151379"],"information_content":100.0}
{"id":"MONDO:0009497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kifafa seizure disorder","equivalent_identifiers":["MONDO:0009497","OMIM:245180","UMLS:C0796010","MESH:C537708","medgen:208655"],"information_content":100.0}
{"id":"MONDO:0009498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal Kniest-like dysplasia","equivalent_identifiers":["MONDO:0009498","OMIM:245190","orphanet:2347","UMLS:C1855605","MESH:C537208","medgen:383721"],"information_content":100.0}
{"id":"MONDO:0009499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Krabbe disease","equivalent_identifiers":["MONDO:0009499","DOID:10587","OMIM:245200","orphanet:487","UMLS:C0023521","MESH:D007965","MEDDRA:10017611","MEDDRA:10023492","NCIT:C61254","SNOMEDCT:189979005","SNOMEDCT:192782005","medgen:44131","icd11.foundation:796317173","ICD10:E75.23"],"information_content":89.4}
{"id":"MONDO:0009500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kuru, susceptibility to","equivalent_identifiers":["MONDO:0009500","OMIM:245300","UMLS:C1855588","medgen:343389"],"information_content":100.0}
{"id":"MONDO:0009501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metabolic myopathy due to lactate transporter defect","equivalent_identifiers":["MONDO:0009501","OMIM:245340","orphanet:171690","UMLS:C1855577","MESH:C565449","SNOMEDCT:766715000","medgen:344529"],"information_content":100.0}
{"id":"MONDO:0009502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate dehydrogenase E2 deficiency","equivalent_identifiers":["MONDO:0009502","OMIM:245348","orphanet:79244","UMLS:C1855565","MESH:C565448","medgen:343386"],"information_content":100.0}
{"id":"MONDO:0009503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate dehydrogenase E3-binding protein deficiency","equivalent_identifiers":["MONDO:0009503","OMIM:245349","orphanet:255182","UMLS:C1855553","MESH:C565447","medgen:343383"],"information_content":100.0}
{"id":"MONDO:0009504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 9","equivalent_identifiers":["MONDO:0009504","DOID:0080128","OMIM:245400","orphanet:17","UMLS:C2931744","UMLS:C3151476","UMLS:C3502298","UMLS:C4275183","MESH:C538134","MESH:C566885","NCIT:C183531","SNOMEDCT:715338007","medgen:462826"],"information_content":100.0}
{"id":"MONDO:0009505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lactic aciduria due to D-lactic acid","equivalent_identifiers":["MONDO:0009505","OMIM:245450","UMLS:C1855552","UMLS:C5193006","MESH:C565446","medgen:1679270"],"information_content":100.0}
{"id":"MONDO:0009506","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"specific granule deficiency","equivalent_identifiers":["MONDO:0009506","OMIM.PS:245480","orphanet:169142","UMLS:C0398593","MESH:C562873","SNOMEDCT:234431006","SNOMEDCT:234587000","medgen:140766"],"information_content":92.8}
{"id":"MONDO:0009507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lambert syndrome","equivalent_identifiers":["MONDO:0009507","OMIM:245550","orphanet:1296","UMLS:C1855551","MESH:C538396","SNOMEDCT:732961003","medgen:343381"],"information_content":100.0}
{"id":"MONDO:0009508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lambotte syndrome","equivalent_identifiers":["MONDO:0009508","OMIM:245552","UMLS:C1855550","MESH:C537549","medgen:343380"],"information_content":100.0}
{"id":"MONDO:0009509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Landau-Kleffner syndrome","equivalent_identifiers":["MONDO:0009509","DOID:2538","OMIM:245570","orphanet:98818","EFO:1001010","UMLS:C0282512","UMLS:C1832814","MESH:C563392","MESH:D018887","MEDDRA:10052075","MEDDRA:10052083","NCIT:C168598","NCIT:C84806","SNOMEDCT:230438007","medgen:79465","icd11.foundation:348544271"],"information_content":95.4}
{"id":"MONDO:0009511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Larsen-like syndrome, B3GAT3 type","equivalent_identifiers":["MONDO:0009511","DOID:0080575","OMIM:245600","orphanet:284139","UMLS:C2931649","UMLS:C3278404","MESH:C537874","medgen:480034"],"information_content":100.0}
{"id":"MONDO:0009512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal Larsen-like syndrome","equivalent_identifiers":["MONDO:0009512","OMIM:245650","orphanet:2371","UMLS:C1855535","UMLS:C4304741","MESH:C537872","SNOMEDCT:719409004","medgen:343375","icd11.foundation:1014532279"],"information_content":100.0}
{"id":"MONDO:0009513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngo-onycho-cutaneous syndrome","equivalent_identifiers":["MONDO:0009513","OMIM:245660","orphanet:2407","UMLS:C1328355","MESH:C537032","MEDDRA:10062987","SNOMEDCT:722675000","medgen:272227"],"information_content":100.0}
{"id":"MONDO:0009514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Laurence-Moon syndrome","equivalent_identifiers":["MONDO:0009514","DOID:1930","OMIM:245800","orphanet:2377","UMLS:C0023138","MESH:D007849","MEDDRA:10056710","NCIT:C34760","SNOMEDCT:232059000","medgen:44078","icd11.foundation:458834940"],"information_content":100.0}
{"id":"MONDO:0009515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Norum disease","equivalent_identifiers":["MONDO:0009515","DOID:1391","OMIM:245900","orphanet:79293","UMLS:C0023195","MESH:D007863","MEDDRA:10077917","MEDDRA:10077928","NCIT:C84813","SNOMEDCT:1264565005","SNOMEDCT:238091006","medgen:9698","icd11.foundation:1848131619"],"information_content":100.0}
{"id":"MONDO:0009516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"absence deformity of leg-cataract syndrome","equivalent_identifiers":["MONDO:0009516","OMIM:246000","orphanet:2310","UMLS:C1855523","MESH:C565442","medgen:343374"],"information_content":100.0}
{"id":"MONDO:0009517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Donohue syndrome","equivalent_identifiers":["MONDO:0009517","DOID:0050470","OMIM:246200","orphanet:508","UMLS:C0265344","UMLS:C0271689","MESH:C562709","MESH:D056731","MEDDRA:10081896","MEDDRA:10081903","NCIT:C84676","SNOMEDCT:10680005","SNOMEDCT:111307005","medgen:82708"],"information_content":100.0}
{"id":"MONDO:0009518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leprosy, susceptibility to, 3","equivalent_identifiers":["MONDO:0009518","OMIM:246300","UMLS:C1968668","medgen:368500"],"information_content":100.0}
{"id":"MONDO:0009519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"letterer-Siwe disease","equivalent_identifiers":["MONDO:0009519","OMIM:246400","UMLS:C0023381","MEDDRA:10024265","NCIT:C3160","SNOMEDCT:118614007","SNOMEDCT:128812005","medgen:7311","icd11.foundation:1827474596"],"information_content":100.0}
{"id":"MONDO:0009520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-hydroxy-3-methylglutaric aciduria","equivalent_identifiers":["MONDO:0009520","DOID:0070541","OMIM:246450","orphanet:20","UMLS:C0268601","UMLS:C1533587","MESH:C538324","NCIT:C84523","SNOMEDCT:124611007","SNOMEDCT:410059004","medgen:78692","icd11.foundation:795785192"],"information_content":100.0}
{"id":"MONDO:0009521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukemia, acute myelocytic, with polyposis coli and colon cancer","equivalent_identifiers":["MONDO:0009521","OMIM:246470","UMLS:C1855505","MESH:C565441","medgen:383699"],"information_content":100.0}
{"id":"MONDO:0009522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Berlin syndrome","equivalent_identifiers":["MONDO:0009522","OMIM:246500","orphanet:1816","UMLS:C0406729","UMLS:C1855504","MESH:C565440","SNOMEDCT:239032007","medgen:383698"],"information_content":100.0}
{"id":"MONDO:0009524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-spasticity-ectrodactyly syndrome","equivalent_identifiers":["MONDO:0009524","OMIM:246555","orphanet:1891","UMLS:C0796001","UMLS:C1855501","MESH:C537446","MESH:C565438","SNOMEDCT:763743003","medgen:340888"],"information_content":100.0}
{"id":"MONDO:0009525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split hand-foot malformation 3","equivalent_identifiers":["MONDO:0009525","DOID:0090025","OMIM:246560","orphanet:1307","UMLS:C1838652","UMLS:C4302673","MESH:C565437","NCIT:C75121","SNOMEDCT:722429003","medgen:325070"],"information_content":100.0}
{"id":"MONDO:0009526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibular aplasia, tibial campomelia, and oligosyndactyly syndrome","equivalent_identifiers":["MONDO:0009526","OMIM:246570","UMLS:C1855499","MESH:C565436","SNOMEDCT:783156008","medgen:340887"],"information_content":100.0}
{"id":"MONDO:0009527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipase deficiency, combined","equivalent_identifiers":["MONDO:0009527","DOID:0111422","OMIM:246650","orphanet:535453","UMLS:C1855498","MESH:C535904","NCIT:C126558","medgen:340886"],"information_content":100.0}
{"id":"MONDO:0009528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chylomicron retention disease","equivalent_identifiers":["MONDO:0009528","DOID:0060357","OMIM:246700","orphanet:71","UMLS:C0795956","MESH:C535460","SNOMEDCT:702364003","medgen:208651","icd11.foundation:1447416932","ICD10:E78.3"],"information_content":100.0}
{"id":"MONDO:0009529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate dehydrogenase E3 deficiency","equivalent_identifiers":["MONDO:0009529","OMIM:246900","orphanet:2394","UMLS:C5574660","SNOMEDCT:29914000","medgen:1805500"],"information_content":100.0}
{"id":"MONDO:0009530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoid proteinosis","equivalent_identifiers":["MONDO:0009530","DOID:14498","OMIM:247100","orphanet:530","UMLS:C0023795","MESH:D008065","MEDDRA:10051661","NCIT:C84829","SNOMEDCT:38692000","medgen:6112","icd11.foundation:326368380"],"information_content":100.0}
{"id":"MONDO:0009532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Miller-Dieker lissencephaly syndrome","equivalent_identifiers":["MONDO:0009532","DOID:0060469","OMIM:247200","orphanet:531","UMLS:C0265219","UMLS:C1855481","MEDDRA:10068361","MEDDRA:10079426","NCIT:C124852","SNOMEDCT:253148005","medgen:78538","ICD10:Q93.88"],"information_content":100.0}
{"id":"MONDO:0009533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dahlberg-Borer-Newcomer syndrome","equivalent_identifiers":["MONDO:0009533","OMIM:247410","orphanet:1563","UMLS:C1855477","MESH:C535769","SNOMEDCT:721083007","medgen:383693","icd11.foundation:1407652122"],"information_content":100.0}
{"id":"MONDO:0009534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation","equivalent_identifiers":["MONDO:0009534","OMIM:247430","UMLS:C1855476","MESH:C565433","medgen:344504"],"information_content":100.0}
{"id":"MONDO:0009536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation","equivalent_identifiers":["MONDO:0009536","OMIM:247450","UMLS:C1855474","MESH:C565431","medgen:340881"],"information_content":100.0}
{"id":"MONDO:0009537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphoid interstitial pneumonia","equivalent_identifiers":["MONDO:0009537","DOID:0050159","OMIM:247610","orphanet:79128","UMLS:C0264511","MESH:C562489","MEDDRA:10062997","NCIT:C27558","SNOMEDCT:44274007","medgen:82682","icd11.foundation:1140418798","HP:0006527"],"information_content":100.0}
{"id":"MONDO:0009539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphoblastic leukemia, acute, with lymphomatous features","equivalent_identifiers":["MONDO:0009539","OMIM:247640","UMLS:C1855472","MESH:C565429","medgen:340879"],"information_content":100.0}
{"id":"MONDO:0009540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic mucocutaneous candidiasis due to lymphokine deficiency","equivalent_identifiers":["MONDO:0009540","OMIM:247650","UMLS:C1855471","MESH:C565428","medgen:340878"],"information_content":100.0}
{"id":"MONDO:0009541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis","equivalent_identifiers":["MONDO:0009541","OMIM:247800","UMLS:C1855470","MESH:C565427","medgen:340877"],"information_content":100.0}
{"id":"MONDO:0009542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lysine malabsorption syndrome","equivalent_identifiers":["MONDO:0009542","OMIM:247950","UMLS:C0796023","MESH:C563080","medgen:167097"],"information_content":100.0}
{"id":"MONDO:0009543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prominent glabella-microcephaly-hypogenitalism syndrome","equivalent_identifiers":["MONDO:0009543","OMIM:247990","orphanet:2083","UMLS:C0796024","MESH:C537714","SNOMEDCT:716023007","medgen:162900"],"information_content":100.0}
{"id":"MONDO:0009544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocephaly/megalencephaly syndrome, autosomal recessive","equivalent_identifiers":["MONDO:0009544","OMIM:248000","UMLS:C2931497","UMLS:C3806412","MESH:C537453","medgen:812742"],"information_content":100.0}
{"id":"MONDO:0009547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrosomia-microphthalmia-cleft palate syndrome","equivalent_identifiers":["MONDO:0009547","OMIM:248110","orphanet:2432","UMLS:C1855467","MESH:C537830","medgen:340874"],"information_content":100.0}
{"id":"MONDO:0009548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypomagnesemia 5 with ocular involvement","equivalent_identifiers":["MONDO:0009548","DOID:0060881","OMIM:248190","orphanet:2196","UMLS:C1855466","UMLS:C2931121","UMLS:C4721891","MESH:C536148","MESH:C565423","SNOMEDCT:717787005","medgen:1648449"],"information_content":100.0}
{"id":"MONDO:0009549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe early-childhood-onset retinal dystrophy","equivalent_identifiers":["MONDO:0009549","OMIM:248200","orphanet:364055","UMLS:C1855465","UMLS:C1858080","UMLS:C4282180","MESH:C565741","SNOMEDCT:716663009","medgen:383691"],"information_content":100.0}
{"id":"MONDO:0009550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypomagnesemia 3","equivalent_identifiers":["MONDO:0009550","DOID:0060880","OMIM:248250","orphanet:31043","UMLS:C0268448","UMLS:C3151482","UMLS:C4511528","MESH:C537153","MEDDRA:10085890","MEDDRA:10085891","SNOMEDCT:725033008","medgen:120640"],"information_content":100.0}
{"id":"MONDO:0009551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"magnesium, elevated red cell","equivalent_identifiers":["MONDO:0009551","OMIM:248260","UMLS:C1855464","medgen:343360"],"information_content":100.0}
{"id":"MONDO:0009552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mal de Meleda","equivalent_identifiers":["MONDO:0009552","DOID:0060862","OMIM:248300","orphanet:87503","UMLS:C0025221","SNOMEDCT:239069005","medgen:7522","icd11.foundation:1850911834"],"information_content":100.0}
{"id":"MONDO:0009554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3MC syndrome 3","equivalent_identifiers":["MONDO:0009554","DOID:0060577","OMIM:248340","UMLS:C0796032","MESH:C535704","medgen:208657"],"information_content":100.0}
{"id":"MONDO:0009556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malonic aciduria","equivalent_identifiers":["MONDO:0009556","OMIM:248360","orphanet:943","UMLS:C0342793","MESH:C535702","SNOMEDCT:124594007","SNOMEDCT:361203007","medgen:91001","icd11.foundation:1373430210"],"information_content":100.0}
{"id":"MONDO:0009557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibuloacral dysplasia with type A lipodystrophy","equivalent_identifiers":["MONDO:0009557","DOID:0081128","OMIM:248370","orphanet:90153","UMLS:C5399785","MESH:C535705","NCIT:C123417","SNOMEDCT:1003431005","SNOMEDCT:109419009","medgen:1757618","icd11.foundation:1756335062"],"information_content":100.0}
{"id":"MONDO:0009558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Treacher Collins syndrome 3","equivalent_identifiers":["MONDO:0009558","DOID:0080791","OMIM:248390","UMLS:C1855433","MESH:C535707","medgen:340868"],"information_content":100.0}
{"id":"MONDO:0009560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculotrichoanal syndrome","equivalent_identifiers":["MONDO:0009560","OMIM:248450","orphanet:2717","UMLS:C1855425","MESH:C536022","SNOMEDCT:703539006","medgen:383680"],"information_content":100.0}
{"id":"MONDO:0009561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mannosidosis","equivalent_identifiers":["MONDO:0009561","DOID:3413","OMIM:248500","orphanet:61","UMLS:C0024748","UMLS:C1257960","MESH:D008363","MESH:D044904","MEDDRA:10083855","NCIT:C61275","NCIT:C84548","SNOMEDCT:124466001","SNOMEDCT:65524005","medgen:7467","icd11.foundation:1944256516"],"information_content":90.9}
{"id":"MONDO:0009562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta-mannosidosis","equivalent_identifiers":["MONDO:0009562","DOID:3633","OMIM:248510","orphanet:118","UMLS:C4048196","MESH:D044905","NCIT:C84596","SNOMEDCT:238047006","medgen:888408","icd11.foundation:1578707401"],"information_content":100.0}
{"id":"MONDO:0009563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maple syrup urine disease","equivalent_identifiers":["MONDO:0009563","DOID:9269","OMIM.PS:248600","orphanet:511","UMLS:C0024776","MESH:D008375","MEDDRA:10026817","MEDDRA:10026818","NCIT:C34806","SNOMEDCT:27718001","medgen:6217","icd11.foundation:1623706568","ICD10:E71.0"],"information_content":84.8}
{"id":"MONDO:0009564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marden-Walker syndrome","equivalent_identifiers":["MONDO:0009564","OMIM:248700","orphanet:2461","UMLS:C0796033","MESH:C535910","MEDDRA:10090841","SNOMEDCT:449824004","medgen:163206","icd11.foundation:1983460876"],"information_content":100.0}
{"id":"MONDO:0009565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-glomerulonephritis-marfanoid habitus syndrome","equivalent_identifiers":["MONDO:0009565","OMIM:248760","orphanet:2172","UMLS:C1855348","MESH:C565411","medgen:343327"],"information_content":100.0}
{"id":"MONDO:0009566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"marfanoid habitus-autosomal recessive intellectual disability syndrome","equivalent_identifiers":["MONDO:0009566","OMIM:248770","orphanet:2463","UMLS:C1855347","MESH:C565410","medgen:343326"],"information_content":100.0}
{"id":"MONDO:0009567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marinesco-Sjogren syndrome","equivalent_identifiers":["MONDO:0009567","DOID:0080195","OMIM:248800","orphanet:559","UMLS:C0024814","SNOMEDCT:80734006","medgen:6222"],"information_content":95.4}
{"id":"MONDO:0009568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mast syndrome","equivalent_identifiers":["MONDO:0009568","DOID:0060245","OMIM:248900","orphanet:101001","UMLS:C1855346","MESH:C565409","SNOMEDCT:764734003","medgen:343325"],"information_content":100.0}
{"id":"MONDO:0009569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hennekam-Beemer syndrome","equivalent_identifiers":["MONDO:0009569","OMIM:248910","orphanet:2135","UMLS:C1855345","UMLS:C3151493","UMLS:C4302582","MESH:C536033","SNOMEDCT:722453009","medgen:462843"],"information_content":100.0}
{"id":"MONDO:0009570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"McDonough syndrome","equivalent_identifiers":["MONDO:0009570","OMIM:248950","orphanet:2471","UMLS:C0796038","MESH:C538158","SNOMEDCT:715441004","medgen:162902","icd11.foundation:1349711155"],"information_content":100.0}
{"id":"MONDO:0009571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 1","equivalent_identifiers":["MONDO:0009571","DOID:0070115","OMIM:249000","UMLS:C3714506","MESH:C536133","medgen:811346","ICD10:Q61.9"],"information_content":100.0}
{"id":"MONDO:0009572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive familial Mediterranean fever","equivalent_identifiers":["MONDO:0009572","OMIM:249100","UMLS:C5399837"],"information_content":100.0}
{"id":"MONDO:0009573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megaepiphyseal dwarfism","equivalent_identifiers":["MONDO:0009573","OMIM:249230","UMLS:C1855310","MESH:C536140","medgen:383654"],"information_content":100.0}
{"id":"MONDO:0009574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephaly with dysmyelination","equivalent_identifiers":["MONDO:0009574","OMIM:249240","UMLS:C1855309","MESH:C565408","medgen:344470"],"information_content":100.0}
{"id":"MONDO:0009575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thiamine-responsive megaloblastic anemia syndrome","equivalent_identifiers":["MONDO:0009575","DOID:0090117","OMIM:249270","orphanet:49827","UMLS:C0342287","MESH:C536510","SNOMEDCT:237617006","medgen:83338"],"information_content":100.0}
{"id":"MONDO:0009576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalocornea","equivalent_identifiers":["MONDO:0009576","DOID:0060305","OMIM:249300","UMLS:C0344530","UMLS:C1167712","UMLS:C5574682","UMLS:C5975700","MESH:C562829","MEDDRA:10059253","MEDDRA:10059297","SNOMEDCT:204118005","SNOMEDCT:268158009","medgen:1807965","icd11.foundation:58849242","HP:0000485"],"information_content":90.9}
{"id":"MONDO:0009577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalocornea-intellectual disability syndrome","equivalent_identifiers":["MONDO:0009577","OMIM:249310","orphanet:2479","UMLS:C0796086","MESH:C536143","SNOMEDCT:733522005","medgen:162904"],"information_content":100.0}
{"id":"MONDO:0009578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurocutaneous melanocytosis","equivalent_identifiers":["MONDO:0009578","OMIM:249400","orphanet:2481","UMLS:C0544862","MESH:C537387","NCIT:C175215","SNOMEDCT:1141661004","medgen:154259","icd11.foundation:403221860"],"information_content":100.0}
{"id":"MONDO:0009579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Frank-Ter Haar syndrome","equivalent_identifiers":["MONDO:0009579","DOID:0111789","OMIM:249420","orphanet:137834","UMLS:C1855305","MESH:C536577","MESH:C537274","SNOMEDCT:720958002","medgen:383652","icd11.foundation:1643548765"],"information_content":100.0}
{"id":"MONDO:0009580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 1","equivalent_identifiers":["MONDO:0009580","DOID:0081177","OMIM:249500","UMLS:C1855304","MESH:C565406","medgen:344468"],"information_content":100.0}
{"id":"MONDO:0009581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome","equivalent_identifiers":["MONDO:0009581","OMIM:249599","orphanet:3044","UMLS:C1855303","MESH:C537447","SNOMEDCT:722454003","medgen:343317"],"information_content":100.0}
{"id":"MONDO:0009582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mietens syndrome","equivalent_identifiers":["MONDO:0009582","OMIM:249600","orphanet:2557","UMLS:C0265249","MESH:C537444","SNOMEDCT:40291001","medgen:82695","icd11.foundation:1399358623"],"information_content":100.0}
{"id":"MONDO:0009583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharophimosis - intellectual disability syndrome, Ohdo type","equivalent_identifiers":["MONDO:0009583","OMIM:249620","orphanet:2728","UMLS:C0796094","MESH:C536232","SNOMEDCT:412787009","medgen:162905"],"information_content":100.0}
{"id":"MONDO:0009584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, Buenos-Aires type","equivalent_identifiers":["MONDO:0009584","OMIM:249630","orphanet:3079","UMLS:C0796080","MESH:C563095","MEDDRA:10089183","MEDDRA:10089184","SNOMEDCT:725906006","medgen:167102"],"information_content":100.0}
{"id":"MONDO:0009585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy due to beta-mercaptolactate-cysteine disulfiduria","equivalent_identifiers":["MONDO:0009585","OMIM:249650","orphanet:1035","UMLS:C0796055","MESH:C563085","SNOMEDCT:784373007","medgen:208661"],"information_content":100.0}
{"id":"MONDO:0009587","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesoaxial hexadactyly and cardiac malformation","equivalent_identifiers":["MONDO:0009587","OMIM:249670","UMLS:C0796057","MESH:C563087","medgen:167099"],"information_content":100.0}
{"id":"MONDO:0009588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Langer mesomelic dysplasia","equivalent_identifiers":["MONDO:0009588","OMIM:249700","orphanet:2632","UMLS:C0432230","MESH:C537267","NCIT:C126876","SNOMEDCT:38494008","medgen:96585"],"information_content":100.0}
{"id":"MONDO:0009589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesomelic dwarfism-cleft palate-camptodactyly syndrome","equivalent_identifiers":["MONDO:0009589","OMIM:249710","orphanet:2631","UMLS:C1855273","UMLS:C2930871","MESH:C535294","MESH:C565404","SNOMEDCT:715471007","medgen:340833"],"information_content":100.0}
{"id":"MONDO:0009590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metachromatic leukodystrophy due to saposin B deficiency","equivalent_identifiers":["MONDO:0009590","OMIM:249900","UMLS:C0268262","UMLS:C5438940","MESH:C562609","SNOMEDCT:1003375005","SNOMEDCT:297278001","SNOMEDCT:68390005","medgen:120624"],"information_content":100.0}
{"id":"MONDO:0009591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metachromatic leukodystrophy, juvenile form","equivalent_identifiers":["MONDO:0009591","OMIM:250100","orphanet:309263","UMLS:C0751276","UMLS:C1855255","UMLS:C2713319","MESH:C565403","SNOMEDCT:44359008","medgen:155528"],"information_content":92.8}
{"id":"MONDO:0009593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia, Sedaghatian type","equivalent_identifiers":["MONDO:0009593","DOID:0112298","OMIM:250220","orphanet:93317","UMLS:C1855229","MESH:C535798","medgen:340816","icd11.foundation:975738106"],"information_content":100.0}
{"id":"MONDO:0009595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cartilage-hair hypoplasia","equivalent_identifiers":["MONDO:0009595","DOID:14773","OMIM:250250","orphanet:175","UMLS:C0220748","MESH:C535916","MEDDRA:10069596","NCIT:C61245","SNOMEDCT:7720002","medgen:67398","icd11.foundation:469051294"],"information_content":95.4}
{"id":"MONDO:0009596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal chondrodysplasia, Pena type","equivalent_identifiers":["MONDO:0009596","OMIM:250300","UMLS:C1855195","MESH:C565399","medgen:343289"],"information_content":100.0}
{"id":"MONDO:0009597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal chondrodysplasia, Spahr type","equivalent_identifiers":["MONDO:0009597","OMIM:250400","orphanet:2501","UMLS:C0432225","MESH:C537353","SNOMEDCT:254084008","medgen:140928","icd11.foundation:1856002752"],"information_content":100.0}
{"id":"MONDO:0009598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal chondrodysplasia-retinitis pigmentosa syndrome","equivalent_identifiers":["MONDO:0009598","OMIM:250410","orphanet:166035","UMLS:C1855188","MESH:C565398","medgen:381579"],"information_content":100.0}
{"id":"MONDO:0009599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal dysostosis-intellectual disability-conductive deafness syndrome","equivalent_identifiers":["MONDO:0009599","OMIM:250420","orphanet:2502","UMLS:C1855175","MESH:C565396","medgen:344437"],"information_content":100.0}
{"id":"MONDO:0009601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal dysplasia without hypotrichosis","equivalent_identifiers":["MONDO:0009601","OMIM:250460","UMLS:C1834821","MESH:C563574","medgen:320444"],"information_content":100.0}
{"id":"MONDO:0009602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal modeling abnormality, skin lesions, and spastic paraplegia","equivalent_identifiers":["MONDO:0009602","OMIM:250500","UMLS:C1855164","MESH:C535875","medgen:343282"],"information_content":100.0}
{"id":"MONDO:0009603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-hydroxyisobutyryl-CoA hydrolase deficiency","equivalent_identifiers":["MONDO:0009603","DOID:0060949","OMIM:250620","orphanet:88639","UMLS:C0342738","UMLS:C4283745","MESH:C562803","SNOMEDCT:124427009","SNOMEDCT:722488009","medgen:83349","HP:6000215"],"information_content":100.0}
{"id":"MONDO:0009605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methemoglobinemia type 4","equivalent_identifiers":["MONDO:0009605","DOID:0112316","OMIM:250790","UMLS:C2673427","UMLS:C4285231","MESH:C567102","medgen:925090"],"information_content":100.0}
{"id":"MONDO:0009606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methemoglobinemia due to deficiency of methemoglobin reductase","equivalent_identifiers":["MONDO:0009606","OMIM:250800","UMLS:C0268193","UMLS:C2749559","UMLS:C2749560","UMLS:C2749561","UMLS:C2749562","MESH:C537841","MEDDRA:10075791","SNOMEDCT:124184009","SNOMEDCT:767497003","medgen:75661"],"information_content":100.0}
{"id":"MONDO:0009607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methionine adenosyltransferase deficiency","equivalent_identifiers":["MONDO:0009607","OMIM:250850","orphanet:168598","EFO:0009069","NCIT:C123435","medgen:75700"],"information_content":100.0}
{"id":"MONDO:0009608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methionine malabsorption syndrome","equivalent_identifiers":["MONDO:0009608","OMIM:250900","UMLS:C0268622","MESH:C562682","SNOMEDCT:45812003","medgen:78693","icd11.foundation:1061270147"],"information_content":100.0}
{"id":"MONDO:0009609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylcobalamin deficiency type cblG","equivalent_identifiers":["MONDO:0009609","DOID:0050733","DOID:0112256","OMIM:250940","orphanet:2170","EFO:0005597","UMLS:C1855128","UMLS:C4303500","MESH:C565394","SNOMEDCT:721187005","medgen:344426"],"information_content":100.0}
{"id":"MONDO:0009610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria type 1","equivalent_identifiers":["MONDO:0009610","DOID:0110002","OMIM:250950","orphanet:67046","UMLS:C0342727","MESH:C562801","NCIT:C98683","SNOMEDCT:237951008","medgen:90994","icd11.foundation:899935975"],"information_content":95.4}
{"id":"MONDO:0009611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria type 4","equivalent_identifiers":["MONDO:0009611","DOID:0110006","OMIM:250951","orphanet:67048","UMLS:C1855126","MESH:C565393","SNOMEDCT:297233004","medgen:344425","icd11.foundation:185382411"],"information_content":100.0}
{"id":"MONDO:0009612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency","equivalent_identifiers":["MONDO:0009612","DOID:0060740","OMIM:251000","orphanet:27","UMLS:C1855114","UMLS:C1855115","UMLS:C1855116","MESH:C565390","NCIT:C148366","medgen:344424","ICD10:E71.1"],"information_content":92.8}
{"id":"MONDO:0009613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic aciduria, cblA type","equivalent_identifiers":["MONDO:0009613","DOID:0060742","OMIM:251100","orphanet:79310","UMLS:C0342721","UMLS:C0342722","UMLS:C1855109","MESH:C537360","NCIT:C142171","SNOMEDCT:73843004","SNOMEDCT:82245003","medgen:344422"],"information_content":100.0}
{"id":"MONDO:0009614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic aciduria, cblB type","equivalent_identifiers":["MONDO:0009614","DOID:0060743","OMIM:251110","orphanet:79311","EFO:0009074","UMLS:C1855102","MESH:C537361","NCIT:C142172","medgen:344420"],"information_content":100.0}
{"id":"MONDO:0009615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","equivalent_identifiers":["MONDO:0009615","OMIM:251120","orphanet:308425","UMLS:C1855100","UMLS:C1855101","UMLS:C4707328","MESH:C565386","MESH:C565387","SNOMEDCT:1293018007","SNOMEDCT:765137006","medgen:344419"],"information_content":100.0}
{"id":"MONDO:0009616","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephalic primordial dwarfism, Toriello type","equivalent_identifiers":["MONDO:0009616","OMIM:251190","orphanet:2643","UMLS:C1855089","MESH:C537321","SNOMEDCT:715482004","medgen:381556","icd11.foundation:279033035"],"information_content":100.0}
{"id":"MONDO:0009617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 1, primary, autosomal recessive","equivalent_identifiers":["MONDO:0009617","DOID:0070285","OMIM:251200","UMLS:C1855081","MESH:C565384","medgen:344415"],"information_content":100.0}
{"id":"MONDO:0009618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-cardiomyopathy syndrome","equivalent_identifiers":["MONDO:0009618","OMIM:251220","orphanet:2515","UMLS:C1855080","MESH:C536711","SNOMEDCT:719380003","medgen:381554"],"information_content":100.0}
{"id":"MONDO:0009619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-micromelia syndrome","equivalent_identifiers":["MONDO:0009619","DOID:0081432","OMIM:251230","orphanet:572768","UMLS:C1855079","MESH:C565382","medgen:381553"],"information_content":100.0}
{"id":"MONDO:0009620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Say-Barber-Miller syndrome","equivalent_identifiers":["MONDO:0009620","OMIM:251240","orphanet:3132","UMLS:C1855078","UMLS:C2931267","MESH:C536618","MESH:C565381","SNOMEDCT:721903007","medgen:343258"],"information_content":100.0}
{"id":"MONDO:0009621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-cervical spine fusion anomalies syndrome","equivalent_identifiers":["MONDO:0009621","OMIM:251250","orphanet:2522","UMLS:C0796066","MESH:C537325","SNOMEDCT:715462003","medgen:208663"],"information_content":100.0}
{"id":"MONDO:0009622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jawad syndrome","equivalent_identifiers":["MONDO:0009622","OMIM:251255","orphanet:313795","UMLS:C0796063","MESH:C567101","SNOMEDCT:771470001","medgen:810673"],"information_content":100.0}
{"id":"MONDO:0009623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nijmegen breakage syndrome","equivalent_identifiers":["MONDO:0009623","DOID:7400","OMIM:251260","orphanet:647","UMLS:C0398791","UMLS:C1855057","MESH:C565380","MESH:D049932","MEDDRA:10067857","NCIT:C4692","SNOMEDCT:234638009","medgen:140771","icd11.foundation:1925662580"],"information_content":90.9}
{"id":"MONDO:0009624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly and chorioretinopathy 1","equivalent_identifiers":["MONDO:0009624","DOID:0080105","OMIM:251270","orphanet:2518","UMLS:C3278481","NCIT:C129306","medgen:480111"],"information_content":100.0}
{"id":"MONDO:0009625","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diencephalic-mesencephalic junction dysplasia syndrome 1","equivalent_identifiers":["MONDO:0009625","OMIM:251280","UMLS:C1855055","UMLS:C4538630","MESH:C537546","medgen:1615973"],"information_content":100.0}
{"id":"MONDO:0009626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudo-TORCH syndrome","equivalent_identifiers":["MONDO:0009626","DOID:0050656","OMIM.PS:251290","orphanet:1229","UMLS:C2931662","UMLS:C3489725","MESH:C537905","SNOMEDCT:722390006","medgen:483678"],"information_content":90.9}
{"id":"MONDO:0009627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Galloway-Mowat syndrome","equivalent_identifiers":["MONDO:0009627","DOID:0080694","OMIM.PS:251300","orphanet:2065","UMLS:C0795949","MESH:C537548","MEDDRA:10088355","NCIT:C132195","SNOMEDCT:721297008","medgen:167086"],"information_content":84.2}
{"id":"MONDO:0009629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Desbuquois dysplasia 1","equivalent_identifiers":["MONDO:0009629","OMIM:251450","UMLS:C4012146","medgen:860583"],"information_content":100.0}
{"id":"MONDO:0009630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with coloboma 4","equivalent_identifiers":["MONDO:0009630","OMIM:251505","UMLS:C1855053","UMLS:C4255043","MESH:C565378","SNOMEDCT:715771008","medgen:344410"],"information_content":100.0}
{"id":"MONDO:0009631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia 1","equivalent_identifiers":["MONDO:0009631","DOID:0060840","OMIM:251600","UMLS:C1855052","UMLS:C4551977","MESH:C565377","medgen:381546"],"information_content":100.0}
{"id":"MONDO:0009632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies","equivalent_identifiers":["MONDO:0009632","OMIM:251700","UMLS:C1968637","MESH:C566884","medgen:368490"],"information_content":100.0}
{"id":"MONDO:0009633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma","equivalent_identifiers":["MONDO:0009633","OMIM:251750","UMLS:C3538951","medgen:761238"],"information_content":95.4}
{"id":"MONDO:0009634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microtia with meatal atresia and conductive deafness","equivalent_identifiers":["MONDO:0009634","OMIM:251800","UMLS:C2931502","MESH:C537469","medgen:419093"],"information_content":100.0}
{"id":"MONDO:0009635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microvillus inclusion disease","equivalent_identifiers":["MONDO:0009635","DOID:0060775","OMIM:251850","orphanet:2290","UMLS:C0341306","MESH:C537470","MEDDRA:10068494","MEDDRA:10068504","SNOMEDCT:235729009","medgen:137954","ICD10:P78.3"],"information_content":100.0}
{"id":"MONDO:0009636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 3 (hepatocerebral type)","equivalent_identifiers":["MONDO:0009636","DOID:0080121","OMIM:251880","orphanet:279934","UMLS:C5191055","SNOMEDCT:783734000","medgen:1682503"],"information_content":100.0}
{"id":"MONDO:0009637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inborn mitochondrial myopathy","equivalent_identifiers":["MONDO:0009637","DOID:699","orphanet:206966","UMLS:C0162670","MESH:D017240","MEDDRA:10027710","NCIT:C101328","SNOMEDCT:16851005","medgen:56484","icd11.foundation:601991549","HP:0003737"],"information_content":71.9}
{"id":"MONDO:0009638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial myopathy with a defect in mitochondrial-protein transport","equivalent_identifiers":["MONDO:0009638","OMIM:251945","UMLS:C1855034","MESH:C565376","medgen:381541"],"information_content":100.0}
{"id":"MONDO:0009642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mohr Syndrome","equivalent_identifiers":["MONDO:0009642","DOID:0060959","OMIM:252100","orphanet:2751","UMLS:C0026363","MEDDRA:10078419","MEDDRA:10078421","SNOMEDCT:1779005","medgen:10077"],"information_content":100.0}
{"id":"MONDO:0009643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sulfite oxidase deficiency due to molybdenum cofactor deficiency type A","equivalent_identifiers":["MONDO:0009643","DOID:0111164","OMIM:252150","orphanet:308386","UMLS:C1854988","MESH:C565372","SNOMEDCT:1003367004","medgen:381530"],"information_content":100.0}
{"id":"MONDO:0009644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sulfite oxidase deficiency due to molybdenum cofactor deficiency type B","equivalent_identifiers":["MONDO:0009644","DOID:0111163","OMIM:252160","orphanet:308393","UMLS:C1854989","MESH:C565373","SNOMEDCT:1003368009","medgen:340760"],"information_content":100.0}
{"id":"MONDO:0009645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic mucocutaneous candidiasis due to monocyte chemotactic disorder","equivalent_identifiers":["MONDO:0009645","OMIM:252250","UMLS:C1854982","MESH:C565371","medgen:343238"],"information_content":100.0}
{"id":"MONDO:0009646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monosomy 7 myelodysplasia and leukemia syndrome 1","equivalent_identifiers":["MONDO:0009646","OMIM:252270","UMLS:C1854978","MESH:C565370","NCIT:C176908","medgen:381529"],"information_content":100.0}
{"id":"MONDO:0009647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Morquio syndrome C","equivalent_identifiers":["MONDO:0009647","OMIM:252300","UMLS:C2931140","MESH:C536247","medgen:443986"],"information_content":100.0}
{"id":"MONDO:0009648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral motor neuropathy-dysautonomia syndrome","equivalent_identifiers":["MONDO:0009648","OMIM:252320","orphanet:2400","UMLS:C1854961","MESH:C536988","SNOMEDCT:230557001","medgen:381527","icd11.foundation:1468523039"],"information_content":100.0}
{"id":"MONDO:0009649","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"moyamoya disease 1","equivalent_identifiers":["MONDO:0009649","OMIM:252350","UMLS:C2931384","MESH:C536991","SNOMEDCT:69116000","medgen:419790"],"information_content":100.0}
{"id":"MONDO:0009650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mucolipidosis 2","equivalent_identifiers":["MONDO:0009650","DOID:0080070","OMIM:252500","orphanet:576","UMLS:C0020725","UMLS:C2673377","UMLS:C2931894","MESH:C538602","MESH:C567100","MEDDRA:10072928","NCIT:C61270","SNOMEDCT:70199000","medgen:435914","HP:0003264"],"information_content":100.0}
{"id":"MONDO:0009652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GNPTG-mucolipidosis","equivalent_identifiers":["MONDO:0009652","DOID:0080678","OMIM:252605","orphanet:423470","UMLS:C1854896","MESH:C565367","NCIT:C129978","medgen:340743"],"information_content":100.0}
{"id":"MONDO:0009653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucolipidosis type IV","equivalent_identifiers":["MONDO:0009653","DOID:0080490","OMIM:252650","orphanet:578","UMLS:C0238286","MEDDRA:10072930","NCIT:C84896","SNOMEDCT:111384001","SNOMEDCT:725296006","medgen:68663"],"information_content":100.0}
{"id":"MONDO:0009655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 3A","equivalent_identifiers":["MONDO:0009655","DOID:0111395","OMIM:252900","orphanet:79269","UMLS:C0086647","NCIT:C84897","SNOMEDCT:41572006","medgen:39264","icd11.foundation:182200345"],"information_content":100.0}
{"id":"MONDO:0009656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 3B","equivalent_identifiers":["MONDO:0009656","DOID:0111394","OMIM:252920","orphanet:79270","UMLS:C0086648","NCIT:C84898","SNOMEDCT:59990008","medgen:88601","icd11.foundation:117303909"],"information_content":100.0}
{"id":"MONDO:0009657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MPS III C","equivalent_identifiers":["MONDO:0009657","DOID:0111393","OMIM:252930","orphanet:79271","UMLS:C0086649","NCIT:C84899","SNOMEDCT:75238000","medgen:39477","icd11.foundation:1755913480","ICD10:E76.22"],"information_content":100.0}
{"id":"MONDO:0009658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MPS III D","equivalent_identifiers":["MONDO:0009658","DOID:0111402","OMIM:252940","orphanet:79272","UMLS:C0086650","NCIT:C84900","SNOMEDCT:15892005","medgen:88602","icd11.foundation:1780990193"],"information_content":100.0}
{"id":"MONDO:0009659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 4A","equivalent_identifiers":["MONDO:0009659","DOID:0111391","OMIM:253000","orphanet:309297","UMLS:C0086651","NCIT:C84901","SNOMEDCT:130197005","SNOMEDCT:7259005","medgen:43375","icd11.foundation:1919173641","ICD10:E76.210"],"information_content":100.0}
{"id":"MONDO:0009660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 4B","equivalent_identifiers":["MONDO:0009660","DOID:0111392","OMIM:253010","orphanet:309310","UMLS:C0086652","NCIT:C84902","SNOMEDCT:238044004","medgen:43376","icd11.foundation:1479415032","ICD10:E76.211"],"information_content":100.0}
{"id":"MONDO:0009661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 6","equivalent_identifiers":["MONDO:0009661","DOID:12800","OMIM:253200","orphanet:583","UMLS:C0026709","MESH:D009087","MEDDRA:10056892","MEDDRA:10056920","NCIT:C61264","SNOMEDCT:52677002","SNOMEDCT:69463008","medgen:44514","icd11.foundation:1288379621"],"information_content":92.8}
{"id":"MONDO:0009662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sly Syndrome","equivalent_identifiers":["MONDO:0009662","DOID:12803","OMIM:253220","orphanet:584","UMLS:C0085132","MESH:D016538","MEDDRA:10056893","MEDDRA:10056921","NCIT:C84903","SNOMEDCT:124470009","SNOMEDCT:43916004","medgen:43108","icd11.foundation:1563668250","ICD10:E76.29"],"information_content":92.8}
{"id":"MONDO:0009664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mulibrey nanism","equivalent_identifiers":["MONDO:0009664","DOID:0050436","OMIM:253250","orphanet:2576","UMLS:C0524582","MESH:D050336","NCIT:C84906","SNOMEDCT:81604003","medgen:99347","icd11.foundation:1167260635"],"information_content":100.0}
{"id":"MONDO:0009665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biotinidase deficiency","equivalent_identifiers":["MONDO:0009665","DOID:856","OMIM:253260","orphanet:79241","UMLS:C0220754","UMLS:C1854698","MESH:C565365","MESH:D028921","MEDDRA:10071434","NCIT:C84598","SNOMEDCT:8808004","medgen:66323","ICD10:D81.810"],"information_content":100.0}
{"id":"MONDO:0009666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holocarboxylase synthetase deficiency","equivalent_identifiers":["MONDO:0009666","DOID:859","OMIM:253270","orphanet:79242","UMLS:C0268581","MESH:D028922","NCIT:C98842","NCIT:C99247","SNOMEDCT:15307001","SNOMEDCT:360369003","medgen:120653","ICD10:D81.818"],"information_content":95.4}
{"id":"MONDO:0009667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3","equivalent_identifiers":["MONDO:0009667","DOID:0111236","OMIM:253280","UMLS:C3151519","NCIT:C126740","medgen:462869"],"information_content":100.0}
{"id":"MONDO:0009668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal multiple pterygium syndrome","equivalent_identifiers":["MONDO:0009668","OMIM:253290","orphanet:33108","UMLS:C1854678","NCIT:C101038","SNOMEDCT:60192008","medgen:381473"],"information_content":95.4}
{"id":"MONDO:0009669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy, type 1","equivalent_identifiers":["MONDO:0009669","DOID:13137","OMIM:253300","orphanet:83330","UMLS:C0043116","UMLS:C5848259","MEDDRA:10047910","MEDDRA:10079413","MEDDRA:10079417","NCIT:C98670","SNOMEDCT:64383006","medgen:1845578","icd11.foundation:915903258","ICD10:G12.0","ICD9:335.0"],"information_content":100.0}
{"id":"MONDO:0009670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal congenital contracture syndrome 1","equivalent_identifiers":["MONDO:0009670","DOID:0060559","OMIM:253310","orphanet:1486","UMLS:C1854664","MESH:C537194","SNOMEDCT:715418007","medgen:344338"],"information_content":100.0}
{"id":"MONDO:0009671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-myopathy-short stature-endocrine defect syndrome","equivalent_identifiers":["MONDO:0009671","OMIM:253320","orphanet:3068","UMLS:C1854663","MESH:C535458","SNOMEDCT:764959000","medgen:381471"],"information_content":100.0}
{"id":"MONDO:0009672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy, type III","equivalent_identifiers":["MONDO:0009672","DOID:12376","OMIM:253400","orphanet:83419","UMLS:C0152109","MEDDRA:10023494","MEDDRA:10079415","NCIT:C118847","SNOMEDCT:54280009","medgen:101816","icd11.foundation:677572815","ICD9:335.11"],"information_content":100.0}
{"id":"MONDO:0009673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy, type II","equivalent_identifiers":["MONDO:0009673","DOID:0050530","DOID:0060160","OMIM:253550","orphanet:83418","UMLS:C0393538","UMLS:C0700595","UMLS:C2931358","MESH:C536879","MESH:D014897","MEDDRA:10079416","NCIT:C156310","NCIT:C85076","SNOMEDCT:128212001","medgen:95975","icd11.foundation:867148636"],"information_content":92.8}
{"id":"MONDO:0009674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, adult-onset, with leukoencephalopathy","equivalent_identifiers":["MONDO:0009674","OMIM:253590","UMLS:C1854646","MESH:C565361","medgen:340269"],"information_content":100.0}
{"id":"MONDO:0009675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2A","equivalent_identifiers":["MONDO:0009675","DOID:0110275","OMIM:253600","orphanet:267","UMLS:C1299884","UMLS:C1869123","MESH:C535895","NCIT:C142079","SNOMEDCT:370474006","SNOMEDCT:715341003","medgen:358391"],"information_content":100.0}
{"id":"MONDO:0009676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2B","equivalent_identifiers":["MONDO:0009676","DOID:0110276","OMIM:253601","orphanet:268","UMLS:C1850889","MESH:C535899","NCIT:C142080","SNOMEDCT:718179003","medgen:338149"],"information_content":100.0}
{"id":"MONDO:0009677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2C","equivalent_identifiers":["MONDO:0009677","DOID:0110277","OMIM:253700","orphanet:353","UMLS:C0410173","MESH:C535900","medgen:98045"],"information_content":100.0}
{"id":"MONDO:0009678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4","equivalent_identifiers":["MONDO:0009678","DOID:0050559","OMIM:253800","orphanet:272","UMLS:C0410174","NCIT:C126741","SNOMEDCT:111502003","medgen:140820"],"information_content":100.0}
{"id":"MONDO:0009680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital muscular dystrophy-infantile cataract-hypogonadism syndrome","equivalent_identifiers":["MONDO:0009680","OMIM:254000","orphanet:1875","UMLS:C1850864","MESH:C537385","medgen:376896"],"information_content":100.0}
{"id":"MONDO:0009681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ullrich congenital muscular dystrophy 1A","equivalent_identifiers":["MONDO:0009681","DOID:0060946","OMIM:254090","UMLS:C0410179","medgen:98046"],"information_content":100.0}
{"id":"MONDO:0009682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, congenital, with rapid progression","equivalent_identifiers":["MONDO:0009682","OMIM:254100","UMLS:C1850840","MESH:C564983","medgen:338135"],"information_content":100.0}
{"id":"MONDO:0009683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2H","equivalent_identifiers":["MONDO:0009683","DOID:0110282","OMIM:254110","orphanet:1878","UMLS:C0270968","MESH:C535897","SNOMEDCT:240064008","SNOMEDCT:43226001","medgen:78750"],"information_content":100.0}
{"id":"MONDO:0009684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular hypertonia, lethal","equivalent_identifiers":["MONDO:0009684","OMIM:254120","UMLS:C1850827","MESH:C564982","medgen:342600"],"information_content":100.0}
{"id":"MONDO:0009685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Miyoshi myopathy","equivalent_identifiers":["MONDO:0009685","DOID:0070198","OMIM.PS:254130","orphanet:45448","UMLS:C5553104","MESH:C537480","NCIT:C118846","medgen:1790866"],"information_content":90.9}
{"id":"MONDO:0009686","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"musk, inability to smell","equivalent_identifiers":["MONDO:0009686","OMIM:254150","UMLS:C1850807","MESH:C564980","medgen:342594"],"information_content":100.0}
{"id":"MONDO:0009687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myasthenia, congenital, refractory to acetylcholinesterase inhibitors","equivalent_identifiers":["MONDO:0009687","OMIM:254190","UMLS:C1850806","MESH:C564979","medgen:338127"],"information_content":100.0}
{"id":"MONDO:0009688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myasthenia gravis","equivalent_identifiers":["MONDO:0009688","DOID:437","OMIM:254200","orphanet:589","EFO:0004991","UMLS:C0026896","UMLS:C1260409","MESH:D009157","MEDDRA:10028417","MEDDRA:10028420","NCIT:C60989","SNOMEDCT:91637004","medgen:7764","icd11.foundation:1270100227","ICD10:G70.0","ICD10:G70.00","ICD9:358.0","ICD9:358.00"],"information_content":82.1}
{"id":"MONDO:0009689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 6","equivalent_identifiers":["MONDO:0009689","DOID:0110671","OMIM:254210","UMLS:C0393929","MESH:C535759","NCIT:C132292","SNOMEDCT:230670003","medgen:140751"],"information_content":100.0}
{"id":"MONDO:0009690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 10","equivalent_identifiers":["MONDO:0009690","DOID:0110668","OMIM:254300","UMLS:C0393946","UMLS:C1836133","UMLS:C1850792","MESH:C536089","MESH:C563716","SNOMEDCT:230687001","medgen:376880"],"information_content":100.0}
{"id":"MONDO:0009691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mycosis fungoides","equivalent_identifiers":["MONDO:0009691","DOID:8691","OMIM:254400","orphanet:2584","EFO:1001051","UMLS:C0026948","MESH:D009182","MEDDRA:10028483","MEDDRA:10028484","MEDDRA:10028500","NCIT:C3246","SNOMEDCT:118618005","SNOMEDCT:90120004","medgen:7771","icd11.foundation:901411509","ICD10:C84.0","ICD9:202.1"],"information_content":81.3}
{"id":"MONDO:0009692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelofibrosis","equivalent_identifiers":["MONDO:0009692","DOID:4971","OMIM:254450","orphanet:824","EFO:0002430","UMLS:C0001815","UMLS:C0948968","UMLS:C2355576","MESH:D055728","MEDDRA:10053134","MEDDRA:10077161","NCIT:C2862","SNOMEDCT:128843003","SNOMEDCT:307651005","medgen:7929","icd11.foundation:1407285327","icd11.foundation:336704235","ICD10:D47.4","ICD10:D75.81","ICD9:238.76","ICD9:289.83"],"information_content":86.3}
{"id":"MONDO:0009693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plasma cell myeloma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0009693","DOID:9538","OMIM:254500","orphanet:29073","EFO:0001378","UMLS:C0026764","MESH:D009101","MEDDRA:10028228","MEDDRA:10028566","MEDDRA:10028568","MEDDRA:10028569","MEDDRA:10034613","MEDDRA:10035226","MEDDRA:10074470","NCIT:C3242","SNOMEDCT:109989006","SNOMEDCT:1162576007","SNOMEDCT:55921005","medgen:10122","icd11.foundation:1582389689","icd11.foundation:526287100","ICD10:C90.0","ICD9:203.0","HP:0006775"],"information_content":67.7}
{"id":"MONDO:0009694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloperoxidase deficiency","equivalent_identifiers":["MONDO:0009694","OMIM:254600","orphanet:2587","UMLS:C0398595","MESH:C562864","MEDDRA:10074767","SNOMEDCT:129644003","SNOMEDCT:234433009","medgen:96015","icd11.foundation:1933575033"],"information_content":100.0}
{"id":"MONDO:0009695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloproliferative disease, autosomal recessive","equivalent_identifiers":["MONDO:0009695","OMIM:254700","UMLS:C1850779","MESH:C564977","medgen:338119"],"information_content":100.0}
{"id":"MONDO:0009696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile myoclonic epilepsy","equivalent_identifiers":["MONDO:0009696","DOID:4890","OMIM:254770","OMIM.PS:254770","orphanet:307","UMLS:C0270853","MESH:D020190","MEDDRA:10071082","NCIT:C84796","SNOMEDCT:6204001","medgen:78738","icd11.foundation:1014397110"],"information_content":85.5}
{"id":"MONDO:0009697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lafora disease","equivalent_identifiers":["MONDO:0009697","DOID:3534","OMIM.PS:254780","orphanet:501","UMLS:C0751783","MESH:D020192","MEDDRA:10054030","MEDDRA:10054037","NCIT:C84804","SNOMEDCT:230425004","medgen:155631"],"information_content":92.8}
{"id":"MONDO:0009698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Unverricht-Lundborg syndrome","equivalent_identifiers":["MONDO:0009698","DOID:0111452","DOID:3535","OMIM:254800","orphanet:308","UMLS:C0751785","MESH:D020194","MEDDRA:10054858","MEDDRA:10054894","MEDDRA:10054895","NCIT:C179710","SNOMEDCT:230423006","medgen:155923"],"information_content":100.0}
{"id":"MONDO:0009699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"action myoclonus-renal failure syndrome","equivalent_identifiers":["MONDO:0009699","DOID:0111444","OMIM:254900","orphanet:163696","UMLS:C0751779","SNOMEDCT:764453009","medgen:155629"],"information_content":100.0}
{"id":"MONDO:0009701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, granulovacuolar lobular, with electrical myotonia","equivalent_identifiers":["MONDO:0009701","OMIM:254950","UMLS:C1850745","MESH:C564974","medgen:338114"],"information_content":100.0}
{"id":"MONDO:0009703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy with abnormal lipid metabolism","equivalent_identifiers":["MONDO:0009703","OMIM:255100","UMLS:C0410214","UMLS:C4310822","MESH:C562935","SNOMEDCT:240095001","medgen:934789"],"information_content":100.0}
{"id":"MONDO:0009704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carnitine palmitoyl transferase II deficiency, myopathic form","equivalent_identifiers":["MONDO:0009704","OMIM:255110","orphanet:228302","UMLS:C1833508","MESH:C563461","medgen:371584"],"information_content":100.0}
{"id":"MONDO:0009705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carnitine palmitoyl transferase 1A deficiency","equivalent_identifiers":["MONDO:0009705","DOID:0090129","OMIM:255120","orphanet:156","UMLS:C1829703","MESH:C535588","NCIT:C98871","SNOMEDCT:238001003","medgen:316820"],"information_content":100.0}
{"id":"MONDO:0009706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary myopathy with lactic acidosis due to ISCU deficiency","equivalent_identifiers":["MONDO:0009706","OMIM:255125","orphanet:43115","UMLS:C1850718","MESH:C564972","SNOMEDCT:699268002","medgen:342573"],"information_content":100.0}
{"id":"MONDO:0009708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, myosin storage, autosomal recessive","equivalent_identifiers":["MONDO:0009708","DOID:0111268","OMIM:255160","orphanet:636970","UMLS:C1850709","MESH:C564970","medgen:340603"],"information_content":100.0}
{"id":"MONDO:0009709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, centronuclear, 2","equivalent_identifiers":["MONDO:0009709","DOID:0111220","OMIM:255200","UMLS:C0410204","MESH:C562934","medgen:98049"],"information_content":100.0}
{"id":"MONDO:0009710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thomsen and Becker disease","equivalent_identifiers":["MONDO:0009710","DOID:2106","orphanet:614","MESH:D009224","NCIT:C84912","SNOMEDCT:726051002","ICD9:359.22"],"information_content":92.8}
{"id":"MONDO:0009711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital fiber-type disproportion myopathy","equivalent_identifiers":["MONDO:0009711","DOID:0080102","orphanet:2020","UMLS:C0546264","NCIT:C120046","SNOMEDCT:240084007","medgen:108177"],"information_content":95.4}
{"id":"MONDO:0009712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital multicore myopathy with external ophthalmoplegia","equivalent_identifiers":["MONDO:0009712","OMIM:255320","orphanet:98905","UMLS:C1850674","MESH:C564969","NCIT:C150608","medgen:340597","HP:0003789"],"information_content":95.4}
{"id":"MONDO:0009713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 18, autosomal recessive","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009713","OMIM:255500","UMLS:C2749509","MESH:C567606","medgen:411856"],"information_content":100.0}
{"id":"MONDO:0009714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myosclerosis","equivalent_identifiers":["MONDO:0009714","OMIM:255600","orphanet:289380","UMLS:C1850671","MESH:C564968","MEDDRA:10064584","SNOMEDCT:763895001","medgen:338098","icd11.foundation:2105106550"],"information_content":100.0}
{"id":"MONDO:0009715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myotonia congenita, autosomal recessive","equivalent_identifiers":["MONDO:0009715","OMIM:255700","UMLS:C0751360","SNOMEDCT:20305008","medgen:155852"],"information_content":100.0}
{"id":"MONDO:0009716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Richieri Costa-da Silva syndrome","equivalent_identifiers":["MONDO:0009716","OMIM:255710","orphanet:3101","UMLS:C1850654","UMLS:C2930978","MESH:C535675","MESH:C564967","SNOMEDCT:782941005","medgen:419686"],"information_content":100.0}
{"id":"MONDO:0009717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schwartz-Jampel syndrome","equivalent_identifiers":["MONDO:0009717","orphanet:800","UMLS:C0036391","MEDDRA:10082378","MEDDRA:10082710","NCIT:C35008","SNOMEDCT:29145002","medgen:19892","icd11.foundation:1725668060"],"information_content":90.9}
{"id":"MONDO:0009719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial atrial myxoma","equivalent_identifiers":["MONDO:0009719","OMIM:255960","orphanet:615","UMLS:C1850635","UMLS:C2931787","MESH:C538262","SNOMEDCT:233855002","medgen:419902","icd11.foundation:1491085859"],"information_content":100.0}
{"id":"MONDO:0009720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Keipert syndrome","equivalent_identifiers":["MONDO:0009720","DOID:0111842","OMIM:301026","orphanet:2662","UMLS:C1850627","MESH:C538337","NCIT:C186306","SNOMEDCT:763774001","medgen:338088"],"information_content":100.0}
{"id":"MONDO:0009721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nathalie syndrome","equivalent_identifiers":["MONDO:0009721","OMIM:255990","orphanet:2663","UMLS:C1850626","MESH:C538342","SNOMEDCT:716170005","medgen:338087"],"information_content":100.0}
{"id":"MONDO:0009722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bailey-Bloch congenital myopathy","equivalent_identifiers":["MONDO:0009722","DOID:0060346","OMIM:255995","orphanet:168572","UMLS:C1850625","MESH:C538343","SNOMEDCT:723439002","medgen:340586"],"information_content":100.0}
{"id":"MONDO:0009723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leigh syndrome","equivalent_identifiers":["MONDO:0009723","DOID:3652","OMIM:256000","orphanet:506","UMLS:C0023264","UMLS:C2931891","MESH:C538590","MESH:D007888","MEDDRA:10062950","NCIT:C84814","SNOMEDCT:29570005","medgen:419518","icd11.foundation:672871576","ICD10:G31.82"],"information_content":88.2}
{"id":"MONDO:0009724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nail-patella-like renal disease","equivalent_identifiers":["MONDO:0009724","OMIM:256020","orphanet:2613","UMLS:C0403548","MESH:C537228","SNOMEDCT:236527004","medgen:140789"],"information_content":100.0}
{"id":"MONDO:0009725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nemaline myopathy 2","equivalent_identifiers":["MONDO:0009725","DOID:0110928","OMIM:256030","UMLS:C1850569","MESH:C538349","NCIT:C118784","medgen:342534"],"information_content":100.0}
{"id":"MONDO:0009726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nakajo syndrome","equivalent_identifiers":["MONDO:0009726","DOID:0050553","DOID:0060913","OMIM.PS:256040","orphanet:324977","UMLS:C1850568","MESH:C538334","MEDDRA:10087602","SNOMEDCT:702449004","medgen:376827"],"information_content":87.2}
{"id":"MONDO:0009727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atelosteogenesis type II","equivalent_identifiers":["MONDO:0009727","OMIM:256050","orphanet:56304","UMLS:C1850554","MESH:C535395","SNOMEDCT:254055004","medgen:338072"],"information_content":100.0}
{"id":"MONDO:0009728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 1","equivalent_identifiers":["MONDO:0009728","DOID:0111112","OMIM:256100","orphanet:93592","UMLS:C1855681","MESH:C537699","NCIT:C74998","SNOMEDCT:444830001","medgen:343406"],"information_content":95.4}
{"id":"MONDO:0009729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephropathy - deafness - hyperparathyroidism syndrome","equivalent_identifiers":["MONDO:0009729","OMIM:256120","orphanet:2668","UMLS:C1850553","UMLS:C4518325","MESH:C536401","SNOMEDCT:724093004","medgen:340569"],"information_content":100.0}
{"id":"MONDO:0009731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrosis-deafness-urinary tract-digital malformations syndrome","equivalent_identifiers":["MONDO:0009731","OMIM:256200","orphanet:2669","UMLS:C1850552","MESH:C536402","medgen:340568"],"information_content":100.0}
{"id":"MONDO:0009732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital nephrotic syndrome, Finnish type","equivalent_identifiers":["MONDO:0009732","DOID:0080390","OMIM:256300","orphanet:839","UMLS:C0403399","MEDDRA:10060740","NCIT:C122795","SNOMEDCT:197601003","medgen:98011"],"information_content":100.0}
{"id":"MONDO:0009733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 4","equivalent_identifiers":["MONDO:0009733","DOID:0080383","OMIM:256370","UMLS:C0268747","UMLS:C3151568","MESH:C537346","MEDDRA:10054832","NCIT:C121198","SNOMEDCT:111406002","medgen:462918","HP:0001967"],"information_content":95.4}
{"id":"MONDO:0009734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinemic hypoglycemia, familial, 1","equivalent_identifiers":["MONDO:0009734","DOID:0070219","OMIM:256450","UMLS:C2931832","SNOMEDCT:360339005","medgen:419505"],"information_content":92.8}
{"id":"MONDO:0009735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Netherton syndrome","equivalent_identifiers":["MONDO:0009735","DOID:0050474","OMIM:256500","orphanet:634","UMLS:C5574950","MESH:D056770","MEDDRA:10062909","NCIT:C84922","SNOMEDCT:312514006","medgen:1802991","icd11.foundation:1797493665"],"information_content":100.0}
{"id":"MONDO:0009736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neu-Laxova syndrome 1","equivalent_identifiers":["MONDO:0009736","DOID:0080076","OMIM:256520","orphanet:583607","UMLS:C4551478","medgen:1633287"],"information_content":100.0}
{"id":"MONDO:0009737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"galactosialidosis","equivalent_identifiers":["MONDO:0009737","DOID:0080540","OMIM:256540","orphanet:351","UMLS:C0268233","MESH:C536411","MEDDRA:10083306","NCIT:C129928","SNOMEDCT:35691006","medgen:82779","icd11.foundation:1838660035"],"information_content":100.0}
{"id":"MONDO:0009738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sialidosis type 2","equivalent_identifiers":["MONDO:0009738","DOID:3343","OMIM:256150","OMIM:256550","orphanet:87876","UMLS:C0268228","UMLS:C0268232","UMLS:C3888317","UMLS:C4282398","MESH:C537366","MESH:C562606","NCIT:C125596","SNOMEDCT:124461006","SNOMEDCT:52186006","SNOMEDCT:81896006","medgen:924303","icd11.foundation:1855856697"],"information_content":92.8}
{"id":"MONDO:0009740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurofaciodigitorenal syndrome","equivalent_identifiers":["MONDO:0009740","OMIM:256690","orphanet:2673","UMLS:C0796088","MESH:C537388","SNOMEDCT:725908007","medgen:163212"],"information_content":100.0}
{"id":"MONDO:0009742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroectodermal melanolysosomal disease","equivalent_identifiers":["MONDO:0009742","OMIM:256710","orphanet:33445","UMLS:C1860157","MESH:C536203","SNOMEDCT:724091002","medgen:348553","icd11.foundation:771734461"],"information_content":100.0}
{"id":"MONDO:0009744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 1","equivalent_identifiers":["MONDO:0009744","DOID:0110721","OMIM:256730","orphanet:228329","UMLS:C1850451","MESH:C564953","NCIT:C85861","SNOMEDCT:720830009","medgen:340540"],"information_content":100.0}
{"id":"MONDO:0009745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 5","equivalent_identifiers":["MONDO:0009745","DOID:0110728","OMIM:256731","orphanet:228360","UMLS:C1850442","MESH:C575534","NCIT:C192090","medgen:376792"],"information_content":100.0}
{"id":"MONDO:0009746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HSAN Type IV","equivalent_identifiers":["MONDO:0009746","DOID:0070146","OMIM:256800","orphanet:642","UMLS:C0020074","NCIT:C118633","SNOMEDCT:62985007","medgen:6915","icd11.foundation:1831234152"],"information_content":100.0}
{"id":"MONDO:0009747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 6 (hepatocerebral type)","equivalent_identifiers":["MONDO:0009747","DOID:0080125","OMIM:256810","orphanet:255229","UMLS:C1850406","UMLS:C1850407","MESH:C538344","SNOMEDCT:784346006","medgen:338045"],"information_content":100.0}
{"id":"MONDO:0009748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory and autonomic neuropathy with spastic paraplegia","equivalent_identifiers":["MONDO:0009748","OMIM:256840","orphanet:139578","UMLS:C1850395","UMLS:C4303565","MESH:C564948","SNOMEDCT:717827000","medgen:342492","icd11.foundation:813709854"],"information_content":100.0}
{"id":"MONDO:0009749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"giant axonal neuropathy 1","equivalent_identifiers":["MONDO:0009749","DOID:0090068","OMIM:256850","orphanet:643","UMLS:C1850386","medgen:376775"],"information_content":100.0}
{"id":"MONDO:0009754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutropenia, lethal congenital, with eosinophilia","equivalent_identifiers":["MONDO:0009754","OMIM:257100","UMLS:C1850381","MESH:C564943","medgen:338037"],"information_content":100.0}
{"id":"MONDO:0009755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Atypical nevus","equivalent_identifiers":["MONDO:0009755","OMIM:257150","UMLS:C0205748","UMLS:C1850380","MESH:C564942","MEDDRA:10013961","MEDDRA:10062805","MEDDRA:10087538","MEDDRA:10087540","MEDDRA:10090050","MEDDRA:10090051","MEDDRA:10090052","MEDDRA:10090053","NCIT:C3694","SNOMEDCT:254818000","SNOMEDCT:61814002","medgen:338036","HP:0001062"],"information_content":95.4}
{"id":"MONDO:0009756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease type A","equivalent_identifiers":["MONDO:0009756","DOID:0070111","OMIM:257200","orphanet:77292","UMLS:C0268242","UMLS:C2675646","MESH:C567268","MESH:D052536","NCIT:C126561","SNOMEDCT:52165006","medgen:78650","icd11.foundation:530611243"],"information_content":100.0}
{"id":"MONDO:0009757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease, type C1","equivalent_identifiers":["MONDO:0009757","DOID:0070113","OMIM:257220","UMLS:C0268245","UMLS:C0268247","UMLS:C1850363","UMLS:C3179455","MESH:C564941","NCIT:C126864","SNOMEDCT:18927009","SNOMEDCT:67855008","medgen:465922"],"information_content":100.0}
{"id":"MONDO:0009758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness 1B","equivalent_identifiers":["MONDO:0009758","DOID:0110865","OMIM:257270","UMLS:C1850362","medgen:342484"],"information_content":100.0}
{"id":"MONDO:0009760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Norman-Roberts syndrome","equivalent_identifiers":["MONDO:0009760","DOID:0060902","OMIM:257320","orphanet:89844","UMLS:C0796089","MESH:C537848","SNOMEDCT:717977003","medgen:163213"],"information_content":100.0}
{"id":"MONDO:0009761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystic hygroma","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009761","DOID:3081","OMIM:257350","EFO:1000888","UMLS:C0206620","MESH:D018191","MEDDRA:10011769","MEDDRA:10020543","MEDDRA:10058949","NCIT:C3724","SNOMEDCT:399882002","SNOMEDCT:40225001","SNOMEDCT:423984004","medgen:60195","HP:0000476"],"information_content":90.9}
{"id":"MONDO:0009762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus, congenital, autosomal recessive","equivalent_identifiers":["MONDO:0009762","DOID:0111797","OMIM:257400","UMLS:C3151571","UMLS:C3502444","MESH:C564938","medgen:462921"],"information_content":100.0}
{"id":"MONDO:0009763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity-hypoventilation syndrome","equivalent_identifiers":["MONDO:0009763","OMIM:257500","EFO:1001382","UMLS:C0031880","MESH:D010845","MEDDRA:10035004","MEDDRA:10064205","SNOMEDCT:190966007","medgen:18472"],"information_content":100.0}
{"id":"MONDO:0009764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular motor apraxia, Cogan type","equivalent_identifiers":["MONDO:0009764","DOID:0080849","OMIM:257550","orphanet:1125","UMLS:C0543874","MESH:C537423","MEDDRA:10053877","MEDDRA:10053941","SNOMEDCT:405809000","medgen:154254"],"information_content":100.0}
{"id":"MONDO:0009766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocerebral hypopigmentation syndrome of Preus","equivalent_identifiers":["MONDO:0009766","OMIM:257790","orphanet:2720","UMLS:C2931646","MESH:C537866","SNOMEDCT:716174001","medgen:419131"],"information_content":100.0}
{"id":"MONDO:0009767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cross syndrome","equivalent_identifiers":["MONDO:0009767","OMIM:257800","orphanet:2719","UMLS:C2936910","SNOMEDCT:17827007","medgen:423639"],"information_content":100.0}
{"id":"MONDO:0009768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculodentodigital dysplasia, autosomal recessive","equivalent_identifiers":["MONDO:0009768","OMIM:257850","UMLS:C2749477","MESH:C567605","medgen:412708"],"information_content":100.0}
{"id":"MONDO:0009769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculo-palato-cerebral syndrome","equivalent_identifiers":["MONDO:0009769","OMIM:257910","orphanet:2714","UMLS:C1850338","MESH:C564935","SNOMEDCT:722055008","medgen:338025"],"information_content":100.0}
{"id":"MONDO:0009770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3MC syndrome 1","equivalent_identifiers":["MONDO:0009770","DOID:0060575","OMIM:257920","EFO:1001978","UMLS:C0796059","MESH:C537738","medgen:167100"],"information_content":100.0}
{"id":"MONDO:0009772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculorenocerebellar syndrome","equivalent_identifiers":["MONDO:0009772","OMIM:257970","orphanet:2715","UMLS:C1850331","MESH:C537739","SNOMEDCT:1208341008","medgen:340516"],"information_content":100.0}
{"id":"MONDO:0009773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odonto-onycho-dermal dysplasia","equivalent_identifiers":["MONDO:0009773","OMIM:257980","orphanet:2721","UMLS:C0796093","MESH:C537742","SNOMEDCT:403762003","medgen:208666","icd11.foundation:1256237872"],"information_content":100.0}
{"id":"MONDO:0009774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cloacal exstrophy","equivalent_identifiers":["MONDO:0009774","DOID:0080175","orphanet:93929","UMLS:C0345217","MESH:C537748","MESH:D000099005","MEDDRA:10067424","SNOMEDCT:20815007","medgen:83377","icd11.foundation:2004612103","HP:0010475"],"information_content":100.0}
{"id":"MONDO:0009775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oguchi disease-1","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009775","DOID:0110712","OMIM:258100","UMLS:C4551824","medgen:1645330"],"information_content":100.0}
{"id":"MONDO:0009776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 1","equivalent_identifiers":["MONDO:0009776","DOID:0070188","OMIM:258150","UMLS:C0403810","MESH:C562902","SNOMEDCT:236803007","medgen:140793"],"information_content":100.0}
{"id":"MONDO:0009777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oliver syndrome","equivalent_identifiers":["MONDO:0009777","OMIM:258200","orphanet:2920","UMLS:C1850320","MESH:C564931","SNOMEDCT:721017000","medgen:342472","icd11.foundation:2072460929"],"information_content":100.0}
{"id":"MONDO:0009779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"omodysplasia 1","equivalent_identifiers":["MONDO:0009779","DOID:0080844","OMIM:258315","orphanet:93329","UMLS:C1850318","UMLS:C2936816","MESH:C537557","MESH:C537746","SNOMEDCT:725166005","medgen:340513","icd11.foundation:350802889"],"information_content":100.0}
{"id":"MONDO:0009780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal omphalocele-cleft palate syndrome","equivalent_identifiers":["MONDO:0009780","OMIM:258320","orphanet:2736","UMLS:C1850317","MESH:C537747","SNOMEDCT:719408007","medgen:376757"],"information_content":100.0}
{"id":"MONDO:0009781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Onychotrichodysplasia and neutropenia","equivalent_identifiers":["MONDO:0009781","OMIM:258360","UMLS:C1850316","MESH:C537752","medgen:340512"],"information_content":100.0}
{"id":"MONDO:0009782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmoplegia totalis with ptosis and miosis","equivalent_identifiers":["MONDO:0009782","OMIM:258400","UMLS:C1850314","MESH:C564927","medgen:342471"],"information_content":100.0}
{"id":"MONDO:0009783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1","equivalent_identifiers":["MONDO:0009783","DOID:0111522","OMIM:258450","UMLS:C4225153","medgen:897191"],"information_content":100.0}
{"id":"MONDO:0009784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmoplegic neuromuscular disorder with abnormal mitochondria","equivalent_identifiers":["MONDO:0009784","OMIM:258470","UMLS:C1850302","MESH:C564925","medgen:340508"],"information_content":100.0}
{"id":"MONDO:0009785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"opsismodysplasia","equivalent_identifiers":["MONDO:0009785","OMIM:258480","orphanet:2746","UMLS:C0432219","MESH:C537122","SNOMEDCT:254068007","medgen:140927","icd11.foundation:2147268863"],"information_content":100.0}
{"id":"MONDO:0009786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 6","equivalent_identifiers":["MONDO:0009786","DOID:0111435","OMIM:258500","UMLS:C1850281","MESH:C537127","medgen:338012"],"information_content":100.0}
{"id":"MONDO:0009787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria type 3","equivalent_identifiers":["MONDO:0009787","DOID:0110004","OMIM:258501","orphanet:67047","UMLS:C0574084","MESH:C535311","SNOMEDCT:297232009","medgen:108273","icd11.foundation:535412248"],"information_content":100.0}
{"id":"MONDO:0009789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonarteritic anterior ischemic optic neuropathy, susceptibility to","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009789","OMIM:258660","UMLS:C1847711","medgen:338294"],"information_content":100.0}
{"id":"MONDO:0009790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Opticocochleodentate degeneration","equivalent_identifiers":["MONDO:0009790","OMIM:258700","UMLS:C0520711","MESH:C563002","SNOMEDCT:77553008","medgen:101046"],"information_content":100.0}
{"id":"MONDO:0009791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oral sensibility, disturbance of","equivalent_identifiers":["MONDO:0009791","OMIM:258800","UMLS:C1850269","medgen:376745"],"information_content":100.0}
{"id":"MONDO:0009793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome III","equivalent_identifiers":["MONDO:0009793","DOID:0060373","OMIM:258850","UMLS:C0406726","MESH:C557817","SNOMEDCT:239030004","medgen:96069"],"information_content":100.0}
{"id":"MONDO:0009794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome IV","equivalent_identifiers":["MONDO:0009794","DOID:0060374","OMIM:258860","orphanet:2753","UMLS:C0406727","MESH:C537133","SNOMEDCT:239031000","medgen:98358"],"information_content":100.0}
{"id":"MONDO:0009795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome IX","equivalent_identifiers":["MONDO:0009795","DOID:0060382","OMIM:258865","orphanet:141007","UMLS:C0796102","MESH:C557818","SNOMEDCT:718680001","medgen:162908"],"information_content":100.0}
{"id":"MONDO:0009796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gyrate atrophy","equivalent_identifiers":["MONDO:0009796","DOID:1415","OMIM:258870","orphanet:414","UMLS:C0018425","UMLS:C0599035","MESH:D015799","MEDDRA:10087243","NCIT:C84744","SNOMEDCT:276426004","SNOMEDCT:314467007","SNOMEDCT:33985005","medgen:6695","HP:0012026"],"information_content":95.4}
{"id":"MONDO:0009797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orotic aciduria","equivalent_identifiers":["MONDO:0009797","DOID:0050833","OMIM:258900","orphanet:30","UMLS:C0220987","UMLS:C0268128","UMLS:C0268130","MESH:C537136","MEDDRA:10052621","MEDDRA:10052631","NCIT:C98944","SNOMEDCT:124277009","SNOMEDCT:16242007","SNOMEDCT:47641009","SNOMEDCT:69525003","medgen:472940","icd11.foundation:449856959","HP:0003218"],"information_content":95.4}
{"id":"MONDO:0009798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Primrose syndrome","equivalent_identifiers":["MONDO:0009798","OMIM:259050","orphanet:3042","UMLS:C0796121","MESH:C536420","SNOMEDCT:726709001","medgen:162911"],"information_content":100.0}
{"id":"MONDO:0009800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Blount disease, adolescent","equivalent_identifiers":["MONDO:0009800","OMIM:259200","UMLS:C3151572","medgen:462922"],"information_content":100.0}
{"id":"MONDO:0009801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial osteodysplasia, Anderson type","equivalent_identifiers":["MONDO:0009801","OMIM:259250","orphanet:2769","UMLS:C1850186","MESH:C564923","SNOMEDCT:773278003","medgen:337990","icd11.foundation:107132680"],"information_content":100.0}
{"id":"MONDO:0009802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteodysplasty, precocious, of Danks, Mayne, and Kozlowski","equivalent_identifiers":["MONDO:0009802","OMIM:259270","UMLS:C1850185","MESH:C564922","medgen:337989"],"information_content":100.0}
{"id":"MONDO:0009803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital osteogenesis imperfecta-microcephaly-cataracts syndrome","equivalent_identifiers":["MONDO:0009803","OMIM:259410","orphanet:2772","UMLS:C1850184","MESH:C537558","medgen:337988"],"information_content":100.0}
{"id":"MONDO:0009804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 3","equivalent_identifiers":["MONDO:0009804","DOID:0110339","OMIM:259420","orphanet:216812","UMLS:C0268362","MESH:C536044","NCIT:C99002","SNOMEDCT:385483009","medgen:78664","icd11.foundation:629873920"],"information_content":100.0}
{"id":"MONDO:0009805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 9","equivalent_identifiers":["MONDO:0009805","DOID:0110349","OMIM:259440","UMLS:C1850169","MESH:C564921","medgen:376720"],"information_content":100.0}
{"id":"MONDO:0009806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bruck syndrome 1","equivalent_identifiers":["MONDO:0009806","OMIM:259450","UMLS:C1850168","MESH:C537406","medgen:342431"],"information_content":100.0}
{"id":"MONDO:0009809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multicentric osteolysis, nodulosis, and arthropathy","equivalent_identifiers":["MONDO:0009809","OMIM:259600","NCIT:C123437"],"information_content":100.0}
{"id":"MONDO:0009810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive distal osteolysis syndrome","equivalent_identifiers":["MONDO:0009810","OMIM:259610","orphanet:2776","UMLS:C1850143","MESH:C536052","SNOMEDCT:715487005","medgen:376714","icd11.foundation:1878981266"],"information_content":100.0}
{"id":"MONDO:0009811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoma of middle ear","equivalent_identifiers":["MONDO:0009811","OMIM:259650","UMLS:C1850142","MESH:C564917","medgen:342425"],"information_content":100.0}
{"id":"MONDO:0009813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic recurrent multifocal osteomyelitis","equivalent_identifiers":["MONDO:0009813","DOID:0060645","OMIM.PS:609628","orphanet:324964","UMLS:C0410422","MESH:C535456","MEDDRA:10071530","MEDDRA:10071531","NCIT:C119042","SNOMEDCT:240151005","medgen:140822","icd11.foundation:1256384247","ICD10:M86.3"],"information_content":90.9}
{"id":"MONDO:0009814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteopenia-intellectual disability-sparse hair syndrome","equivalent_identifiers":["MONDO:0009814","OMIM:259690","orphanet:2324","UMLS:C1850140","MESH:C537706","SNOMEDCT:732954002","medgen:337979"],"information_content":100.0}
{"id":"MONDO:0009815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive osteopetrosis 1","equivalent_identifiers":["MONDO:0009815","DOID:0110942","OMIM:259700","UMLS:C1850127","UMLS:C4551971","MESH:C564915","NCIT:C167215","medgen:376708"],"information_content":100.0}
{"id":"MONDO:0009816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive osteopetrosis 2","equivalent_identifiers":["MONDO:0009816","DOID:0110943","OMIM:259710","UMLS:C1850126","MESH:C536059","medgen:342420"],"information_content":100.0}
{"id":"MONDO:0009817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive osteopetrosis 5","equivalent_identifiers":["MONDO:0009817","DOID:0110939","OMIM:259720","UMLS:C1968603","MESH:C566883","medgen:409627"],"information_content":100.0}
{"id":"MONDO:0009818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive osteopetrosis 3","equivalent_identifiers":["MONDO:0009818","DOID:0110941","OMIM:259730","orphanet:2785","UMLS:C0345407","MESH:C536058","NCIT:C118438","SNOMEDCT:254122007","medgen:91042"],"information_content":100.0}
{"id":"MONDO:0009820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoporosis-pseudoglioma syndrome","equivalent_identifiers":["MONDO:0009820","DOID:0060849","OMIM:259770","orphanet:2788","UMLS:C0432252","MESH:C536063","MEDDRA:10052452","NCIT:C130998","SNOMEDCT:254112001","medgen:98480"],"information_content":100.0}
{"id":"MONDO:0009821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RAINE SYNDROME","equivalent_identifiers":["MONDO:0009821","OMIM:259775","orphanet:1832","UMLS:C1850106","MESH:C535282","MESH:C564916","MEDDRA:10087908","SNOMEDCT:389239007","medgen:342416","icd11.foundation:1306493470"],"information_content":100.0}
{"id":"MONDO:0009822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otoonychoperoneal syndrome","equivalent_identifiers":["MONDO:0009822","OMIM:259780","orphanet:2793","UMLS:C1850105","UMLS:C2711794","MESH:C564912","SNOMEDCT:441944007","medgen:376704"],"information_content":100.0}
{"id":"MONDO:0009823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary hyperoxaluria type 1","equivalent_identifiers":["MONDO:0009823","DOID:0111670","OMIM:259900","orphanet:93598","UMLS:C0268164","MESH:C536414","NCIT:C123212","SNOMEDCT:65520001","medgen:75658","icd11.foundation:692812009"],"information_content":100.0}
{"id":"MONDO:0009824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary hyperoxaluria type 2","equivalent_identifiers":["MONDO:0009824","DOID:0111671","OMIM:260000","orphanet:93599","UMLS:C0268165","MESH:C536415","NCIT:C123213","SNOMEDCT:40951006","medgen:120616","icd11.foundation:347920969"],"information_content":100.0}
{"id":"MONDO:0009825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"5-oxoprolinase deficiency","equivalent_identifiers":["MONDO:0009825","OMIM:260005","orphanet:33572","UMLS:C0268525","UMLS:C5886737","MESH:C535322","SNOMEDCT:26132002","medgen:82814","HP:0040142"],"information_content":100.0}
{"id":"MONDO:0009826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Xh antigen","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009826","OMIM:260100","UMLS:C1850104","MESH:C009691","medgen:342415"],"information_content":100.0}
{"id":"MONDO:0009830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parkinsonian-pyramidal syndrome","equivalent_identifiers":["MONDO:0009830","DOID:0060372","OMIM:260300","orphanet:171695","UMLS:C1850100","MESH:C538104","NCIT:C198607","SNOMEDCT:783012006","medgen:337969","icd11.foundation:1128311778"],"information_content":95.4}
{"id":"MONDO:0009832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic agenesis","equivalent_identifiers":["MONDO:0009832","DOID:0050877","OMIM.PS:260370","orphanet:2805","UMLS:C1850096","UMLS:C4305001","UMLS:C5195568","MESH:C564908","SNOMEDCT:719044008","medgen:1681783","icd11.foundation:634711891"],"information_content":89.4}
{"id":"MONDO:0009833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shwachman-Diamond syndrome","equivalent_identifiers":["MONDO:0009833","DOID:0060479","OMIM.PS:260400","orphanet:811","UMLS:C0272170","MESH:C537330","MESH:D000081003","MEDDRA:10067940","NCIT:C61235","SNOMEDCT:89454001","medgen:124418","icd11.foundation:232885463","ICD10:D61.0"],"information_content":89.4}
{"id":"MONDO:0009835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subacute sclerosing panencephalitis","equivalent_identifiers":["MONDO:0009835","DOID:8970","OMIM:260470","orphanet:2806","EFO:0007502","UMLS:C0038522","MESH:D013344","MEDDRA:10042297","MEDDRA:10080799","NCIT:C85171","SNOMEDCT:192685000","SNOMEDCT:359686005","SNOMEDCT:416154000","medgen:52527","icd11.foundation:1098683540","ICD10:A81.1","ICD9:046.2"],"information_content":100.0}
{"id":"MONDO:0009837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroid plexus papilloma","equivalent_identifiers":["MONDO:0009837","DOID:2626","OMIM:260500","orphanet:2807","EFO:1000177","UMLS:C0205770","UMLS:C1332963","UMLS:C1960516","MESH:D020288","MEDDRA:10008777","NCIT:C3698","NCIT:C5800","SNOMEDCT:1156641000","SNOMEDCT:18021007","SNOMEDCT:425868004","medgen:64439","icd11.foundation:1696749652","HP:0200022"],"information_content":92.8}
{"id":"MONDO:0009838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parana hard-skin syndrome","equivalent_identifiers":["MONDO:0009838","OMIM:260530","orphanet:2812","UMLS:C1850079","MESH:C564905","NCIT:C126559","SNOMEDCT:783013001","medgen:337964"],"information_content":100.0}
{"id":"MONDO:0009839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive supranuclear palsy-parkinsonism syndrome","equivalent_identifiers":["MONDO:0009839","OMIM:260540","orphanet:240085","UMLS:C1850077","MESH:C537240","medgen:342410"],"information_content":100.0}
{"id":"MONDO:0009841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PEHO syndrome","equivalent_identifiers":["MONDO:0009841","DOID:0080539","OMIM:260565","orphanet:2836","UMLS:C1850055","MESH:C536317","MEDDRA:10086612","SNOMEDCT:442511009","medgen:342404","icd11.foundation:976613527"],"information_content":100.0}
{"id":"MONDO:0009842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pelger-Huet-like anomaly and episodic fever with abdominal pain","equivalent_identifiers":["MONDO:0009842","DOID:0061077","OMIM:260570","UMLS:C1850054","MESH:C564899","medgen:376692"],"information_content":100.0}
{"id":"MONDO:0009843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelinating leukodystrophy 3","equivalent_identifiers":["MONDO:0009843","DOID:0060790","OMIM:260600","orphanet:280293","UMLS:C1850053","MESH:C536319","medgen:342403"],"information_content":100.0}
{"id":"MONDO:0009845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelviscapular dysplasia","equivalent_identifiers":["MONDO:0009845","OMIM:260660","orphanet:93333","UMLS:C1850040","MESH:C535550","SNOMEDCT:719299009","medgen:342400"],"information_content":100.0}
{"id":"MONDO:0009846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pentosuria","equivalent_identifiers":["MONDO:0009846","DOID:0111258","OMIM:260800","orphanet:2843","UMLS:C0268162","MESH:C536652","MEDDRA:10064170","SNOMEDCT:190764000","medgen:78646","ICD10:E74.89"],"information_content":100.0}
{"id":"MONDO:0009848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dissecting cellulitis of the scalp","equivalent_identifiers":["MONDO:0009848","OMIM:260910","orphanet:345","UMLS:C0263506","MESH:C562486","MEDDRA:10056955","MEDDRA:10056961","SNOMEDCT:201182003","SNOMEDCT:77333008","medgen:78097","icd11.foundation:872245808"],"information_content":100.0}
{"id":"MONDO:0009849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperimmunoglobulinemia D with periodic fever","equivalent_identifiers":["MONDO:0009849","DOID:0081450","OMIM:260920","orphanet:343","UMLS:C0398691","MEDDRA:10072010","MEDDRA:10072011","SNOMEDCT:403834003","medgen:140768"],"information_content":100.0}
{"id":"MONDO:0009851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain","equivalent_identifiers":["MONDO:0009851","OMIM:260970","UMLS:C1850022","MESH:C564894","medgen:342395"],"information_content":100.0}
{"id":"MONDO:0009852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary intrinsic factor deficiency","equivalent_identifiers":["MONDO:0009852","DOID:0050734","OMIM:261000","orphanet:332","UMLS:C0271969","UMLS:C1394891","MESH:C563242","MEDDRA:10070438","MEDDRA:10070440","SNOMEDCT:234361004","SNOMEDCT:60504009","medgen:235598"],"information_content":95.4}
{"id":"MONDO:0009853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Imerslund-Grasbeck syndrome","equivalent_identifiers":["MONDO:0009853","OMIM.PS:261100","orphanet:35858","UMLS:C1306856","UMLS:C4551825","MESH:C538556","MEDDRA:10081880","SNOMEDCT:234363001","SNOMEDCT:34925000","SNOMEDCT:360495000","SNOMEDCT:49284006","medgen:1640347","icd11.foundation:375969525"],"information_content":92.8}
{"id":"MONDO:0009854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroneus tertius muscle, absence of","equivalent_identifiers":["MONDO:0009854","OMIM:261400","UMLS:C1850001","medgen:376684"],"information_content":100.0}
{"id":"MONDO:0009855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"d-bifunctional protein deficiency","equivalent_identifiers":["MONDO:0009855","DOID:0090031","OMIM:261515","orphanet:300","UMLS:C0342870","NCIT:C119676","SNOMEDCT:238068007","medgen:137982","ICD10:E71.3"],"information_content":100.0}
{"id":"MONDO:0009856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Peters plus syndrome","equivalent_identifiers":["MONDO:0009856","DOID:0080201","OMIM:261540","orphanet:709","UMLS:C0796012","MESH:C537617","NCIT:C123436","SNOMEDCT:449817000","medgen:163204"],"information_content":100.0}
{"id":"MONDO:0009857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent Mullerian duct syndrome","equivalent_identifiers":["MONDO:0009857","DOID:0050791","OMIM:261550","orphanet:2856","UMLS:C1849930","MESH:C536665","MEDDRA:10081352","NCIT:C120188","SNOMEDCT:702358005","medgen:342367","icd11.foundation:697796373"],"information_content":92.8}
{"id":"MONDO:0009858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pfeiffer-Palm-Teller syndrome","equivalent_identifiers":["MONDO:0009858","OMIM:261560","orphanet:2871","UMLS:C1849929","MESH:C537889","SNOMEDCT:726672000","medgen:342366"],"information_content":100.0}
{"id":"MONDO:0009859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PHAVER syndrome","equivalent_identifiers":["MONDO:0009859","OMIM:261575","orphanet:2876","UMLS:C1849928","MESH:C538357","SNOMEDCT:723453002","medgen:376670"],"information_content":100.0}
{"id":"MONDO:0009860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phenformin 4-hydroxylation","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009860","OMIM:261590","UMLS:C1849927","medgen:342365"],"information_content":100.0}
{"id":"MONDO:0009861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phenylketonuria","equivalent_identifiers":["MONDO:0009861","DOID:9281","OMIM:261600","orphanet:716","UMLS:C0031485","UMLS:C2678416","MESH:C567494","MESH:D010661","MEDDRA:10034871","MEDDRA:10034872","MEDDRA:10034873","MEDDRA:10035118","MEDDRA:10060404","NCIT:C81315","SNOMEDCT:190687004","SNOMEDCT:7573000","medgen:19244","icd11.foundation:444122923","ICD9:270.1"],"information_content":84.2}
{"id":"MONDO:0009862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dihydropteridine reductase deficiency","equivalent_identifiers":["MONDO:0009862","DOID:0081130","OMIM:261630","orphanet:226","UMLS:C0268465","NCIT:C138173","SNOMEDCT:58256000","medgen:75682","icd11.foundation:1931239861"],"information_content":100.0}
{"id":"MONDO:0009863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BH4-deficient hyperphenylalaninemia A","equivalent_identifiers":["MONDO:0009863","DOID:0090106","OMIM:261640","orphanet:13","UMLS:C0878676","UMLS:C2678415","MESH:C535325","MESH:C567493","NCIT:C138171","SNOMEDCT:237914002","medgen:209234"],"information_content":100.0}
{"id":"MONDO:0009864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phosphoenolpyruvate carboxykinase deficiency, mitochondrial","equivalent_identifiers":["MONDO:0009864","OMIM:261650","UMLS:C1849821","MESH:C564890","medgen:376665"],"information_content":100.0}
{"id":"MONDO:0009865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dimauro disease","equivalent_identifiers":["MONDO:0009865","OMIM:261670","orphanet:97234","UMLS:C0268149","UMLS:C1291618","MESH:C536176","NCIT:C131647","SNOMEDCT:124676006","SNOMEDCT:61772003","medgen:120613"],"information_content":100.0}
{"id":"MONDO:0009866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phosphoenolpyruvate carboxykinase deficiency, cytosolic","equivalent_identifiers":["MONDO:0009866","OMIM:261680","UMLS:C5574905","medgen:1801754"],"information_content":100.0}
{"id":"MONDO:0009867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal congenital glycogen storage disease of heart","equivalent_identifiers":["MONDO:0009867","DOID:0090101","OMIM:261740","orphanet:439854","UMLS:C1849813","MESH:C564888","SNOMEDCT:1230303001","medgen:337919","ICD10:E74.0","ICD10:G73.6"],"information_content":100.0}
{"id":"MONDO:0009868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease IXb","equivalent_identifiers":["MONDO:0009868","DOID:0111041","OMIM:261750","orphanet:79240","UMLS:C0543514","MESH:C563008","MEDDRA:10083036","SNOMEDCT:860860004","medgen:107772"],"information_content":100.0}
{"id":"MONDO:0009869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated Pierre-Robin syndrome","equivalent_identifiers":["MONDO:0009869","OMIM:261800","orphanet:718","UMLS:C0031900","MESH:D010855","MEDDRA:10035009","MEDDRA:10039204","MEDDRA:10039205","NCIT:C85010","SNOMEDCT:4602007","medgen:19310","icd11.foundation:136361299","HP:0000201"],"information_content":89.4}
{"id":"MONDO:0009870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pili torti","equivalent_identifiers":["MONDO:0009870","OMIM:261900","orphanet:2889","UMLS:C0263491","MESH:C562485","SNOMEDCT:17170005","medgen:82670","icd11.foundation:813238041","HP:0003777"],"information_content":100.0}
{"id":"MONDO:0009871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pili torti-developmental delay-neurological abnormalities syndrome","equivalent_identifiers":["MONDO:0009871","OMIM:261990","orphanet:2891","UMLS:C1849811","MESH:C537398","medgen:342358"],"information_content":100.0}
{"id":"MONDO:0009872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bjornstad syndrome","equivalent_identifiers":["MONDO:0009872","DOID:0050677","OMIM:262000","orphanet:123","UMLS:C0266006","MESH:C537633","SNOMEDCT:67817003","medgen:82728"],"information_content":100.0}
{"id":"MONDO:0009874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rabson-Mendenhall syndrome","equivalent_identifiers":["MONDO:0009874","OMIM:262190","orphanet:769","UMLS:C0271695","MEDDRA:10088742","NCIT:C131000","SNOMEDCT:33559001","medgen:78783","icd11.foundation:1018973126"],"information_content":100.0}
{"id":"MONDO:0009875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achromatopsia 3","equivalent_identifiers":["MONDO:0009875","DOID:0110008","OMIM:262300","UMLS:C1849792","MESH:C536129","medgen:340413"],"information_content":100.0}
{"id":"MONDO:0009876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dwarfism","equivalent_identifiers":["MONDO:0009876","DOID:0060873","OMIM:262400","orphanet:231662","UMLS:C0013336","UMLS:C0342573","MESH:C537404","MESH:D004392","MEDDRA:10013881","MEDDRA:10013883","MEDDRA:10013884","NCIT:C34554","SNOMEDCT:237836003","SNOMEDCT:237837007","SNOMEDCT:422065006","SNOMEDCT:71003000","medgen:90986","HP:0003510"],"information_content":83.6}
{"id":"MONDO:0009877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Laron syndrome","equivalent_identifiers":["MONDO:0009877","DOID:9521","OMIM:262500","orphanet:633","UMLS:C0271568","MESH:D046150","MEDDRA:10075492","MEDDRA:10082851","NCIT:C130994","SNOMEDCT:38196001","medgen:78776","ICD10:E34.321"],"information_content":100.0}
{"id":"MONDO:0009878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary hormone deficiency, combined, 2","equivalent_identifiers":["MONDO:0009878","DOID:0061020","OMIM:262600","UMLS:C0878683","MESH:C563172","medgen:209236"],"information_content":100.0}
{"id":"MONDO:0009879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature due to growth hormone qualitative anomaly","equivalent_identifiers":["MONDO:0009879","OMIM:262650","orphanet:629","UMLS:C1849779","MESH:C537505","medgen:340412","icd11.foundation:1665498704"],"information_content":100.0}
{"id":"MONDO:0009880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-pituitary and cerebellar defects-small sella turcica syndrome","equivalent_identifiers":["MONDO:0009880","DOID:0061017","OMIM:262700","orphanet:85442","UMLS:C2678408","MESH:C567492","medgen:394816"],"information_content":100.0}
{"id":"MONDO:0009881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary dwarfism with large sella turcica","equivalent_identifiers":["MONDO:0009881","OMIM:262710","UMLS:C0271575","MESH:C562705","SNOMEDCT:27270004","medgen:78778"],"information_content":100.0}
{"id":"MONDO:0009883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-2-plasmin inhibitor deficiency","equivalent_identifiers":["MONDO:0009883","DOID:0060601","OMIM:262850","orphanet:79","UMLS:C2752081","UMLS:C3489734","UMLS:C4274304","MESH:C537777","SNOMEDCT:716746003","medgen:414178","icd11.foundation:688627594","ICD10:D68.8"],"information_content":100.0}
{"id":"MONDO:0009884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet prostacyclin receptor defect","equivalent_identifiers":["MONDO:0009884","OMIM:262875","UMLS:C1849774","MESH:C564884","medgen:337912"],"information_content":100.0}
{"id":"MONDO:0009885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scott syndrome","equivalent_identifiers":["MONDO:0009885","DOID:0111052","OMIM:262890","orphanet:806","UMLS:C0796149","MESH:C563120","SNOMEDCT:128098009","medgen:167107","icd11.foundation:186013982"],"information_content":100.0}
{"id":"MONDO:0009887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"desquamative interstitial pneumonia","equivalent_identifiers":["MONDO:0009887","DOID:0050158","OMIM:263000","orphanet:98852","UMLS:C0238378","UMLS:C5539403","UMLS:C5539404","MESH:C562470","NCIT:C35288","SNOMEDCT:8549006","medgen:65962","icd11.foundation:1620001155","ICD10:J84.117","ICD9:516.37","HP:0005942"],"information_content":100.0}
{"id":"MONDO:0009889","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive polycystic kidney disease","equivalent_identifiers":["MONDO:0009889","DOID:0110861","orphanet:731","UMLS:C0085548","MESH:D017044","MEDDRA:10036047","NCIT:C84579","SNOMEDCT:28770003","medgen:39076","icd11.foundation:1424110943","ICD10:Q61.1","ICD9:753.14"],"information_content":92.8}
{"id":"MONDO:0009890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gillessen-Kaesbach-Nishimura syndrome","equivalent_identifiers":["MONDO:0009890","OMIM:263210","UMLS:C1849762","MESH:C564881","medgen:376653"],"information_content":100.0}
{"id":"MONDO:0009891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired polycythemia vera","equivalent_identifiers":["MONDO:0009891","DOID:8997","OMIM:263300","orphanet:729","EFO:0002429","UMLS:C0032463","UMLS:C0152272","MESH:D011087","MEDDRA:10008867","MEDDRA:10008868","MEDDRA:10036056","MEDDRA:10036057","MEDDRA:10036060","MEDDRA:10036061","MEDDRA:10036725","MEDDRA:10036726","MEDDRA:10064071","NCIT:C3336","SNOMEDCT:128841001","medgen:45996","icd11.foundation:818364947","ICD10:D45","ICD9:207.1","ICD9:238.4"],"information_content":85.5}
{"id":"MONDO:0009892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chuvash polycythemia","equivalent_identifiers":["MONDO:0009892","DOID:0060474","OMIM:263400","orphanet:238557","UMLS:C1837915","MESH:C563918","medgen:332974","ICD10:D75.1"],"information_content":100.0}
{"id":"MONDO:0009893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly, postaxial, type A5","equivalent_identifiers":["MONDO:0009893","OMIM:263450","UMLS:C3550661","medgen:763575"],"information_content":100.0}
{"id":"MONDO:0009894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 6 with or without polydactyly","equivalent_identifiers":["MONDO:0009894","DOID:0110092","OMIM:263520","UMLS:C0024507","NCIT:C122654","medgen:44252"],"information_content":100.0}
{"id":"MONDO:0009895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postaxial polydactyly-dental and vertebral anomalies syndrome","equivalent_identifiers":["MONDO:0009895","OMIM:263540","orphanet:2916","UMLS:C1849732","MESH:C564880","medgen:342342"],"information_content":100.0}
{"id":"MONDO:0009896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polymyoclonus, infantile","equivalent_identifiers":["MONDO:0009896","OMIM:263550","UMLS:C1849731","MESH:C535524","medgen:376647"],"information_content":100.0}
{"id":"MONDO:0009897","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult polyglucosan body disease","equivalent_identifiers":["MONDO:0009897","OMIM:263570","orphanet:206583","UMLS:C1849722","MESH:C564878","MEDDRA:10077946","SNOMEDCT:721099001","medgen:342338"],"information_content":100.0}
{"id":"MONDO:0009898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polysaccharide, storage of unusual","equivalent_identifiers":["MONDO:0009898","OMIM:263600","UMLS:C1849721","MESH:C564877","medgen:376645"],"information_content":100.0}
{"id":"MONDO:0009899","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyhydramnios, chronic idiopathic","equivalent_identifiers":["MONDO:0009899","OMIM:263610","UMLS:C1849720","MESH:C564876","medgen:340402"],"information_content":100.0}
{"id":"MONDO:0009900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polysyndactyly-cardiac malformation syndrome","equivalent_identifiers":["MONDO:0009900","OMIM:263630","orphanet:2934","UMLS:C1849719","MESH:C564875","SNOMEDCT:724066002","medgen:337895"],"information_content":100.0}
{"id":"MONDO:0009901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartsocas-Papas syndrome 1","equivalent_identifiers":["MONDO:0009901","OMIM:263650","orphanet:1234","UMLS:C1849718","MESH:C564874","NCIT:C168990","SNOMEDCT:722376008","medgen:337894"],"information_content":100.0}
{"id":"MONDO:0009902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous porphyria","equivalent_identifiers":["MONDO:0009902","DOID:13271","OMIM:263700","orphanet:79277","UMLS:C0162530","UMLS:C2718078","UMLS:C5886774","MESH:D017092","MEDDRA:10015288","NCIT:C84697","SNOMEDCT:190913009","SNOMEDCT:22935002","SNOMEDCT:67312003","medgen:1861084"],"information_content":100.0}
{"id":"MONDO:0009903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postaxial acrofacial dysostosis","equivalent_identifiers":["MONDO:0009903","DOID:0111259","OMIM:263750","orphanet:246","UMLS:C0265257","MESH:C537680","SNOMEDCT:66038001","medgen:120522","icd11.foundation:70602060"],"information_content":100.0}
{"id":"MONDO:0009904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gitelman syndrome","equivalent_identifiers":["MONDO:0009904","DOID:0050450","OMIM:263800","orphanet:358","UMLS:C0268450","MESH:D053579","MEDDRA:10062906","NCIT:C84730","SNOMEDCT:707756004","medgen:75681"],"information_content":100.0}
{"id":"MONDO:0009905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urban-Rogers-Meyer syndrome","equivalent_identifiers":["MONDO:0009905","OMIM:264010","orphanet:3409","UMLS:C0796189","MESH:C538276","SNOMEDCT:716334004","medgen:162919"],"information_content":100.0}
{"id":"MONDO:0009906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prenatal bowing","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009906","OMIM:264050","UMLS:C1849701","MESH:C564873","medgen:337891"],"information_content":100.0}
{"id":"MONDO:0009907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prepapillary vascular loops","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009907","OMIM:264060","UMLS:C1828066","MESH:C563287","SNOMEDCT:424728002","medgen:316814"],"information_content":100.0}
{"id":"MONDO:0009908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pterin-4 alpha-carbinolamine dehydratase 1 deficiency","equivalent_identifiers":["MONDO:0009908","DOID:0081131","OMIM:264070","orphanet:1578","UMLS:C1291595","UMLS:C1849700","MESH:C538382","SNOMEDCT:124646004","medgen:337890"],"information_content":100.0}
{"id":"MONDO:0009909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progesterone resistance","equivalent_identifiers":["MONDO:0009909","OMIM:264080","UMLS:C1849699","MESH:C564871","medgen:337889"],"information_content":100.0}
{"id":"MONDO:0009910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wiedemann-Rautenstrauch syndrome","equivalent_identifiers":["MONDO:0009910","DOID:0081333","OMIM:264090","orphanet:3455","UMLS:C0406586","MESH:C536423","NCIT:C121565","SNOMEDCT:238874008","medgen:140806"],"information_content":100.0}
{"id":"MONDO:0009911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prolactin deficiency, isolated","equivalent_identifiers":["MONDO:0009911","OMIM:264110","UMLS:C0271586","MESH:C562708","MEDDRA:10021082","MEDDRA:10060495","NCIT:C121140","SNOMEDCT:67873006","medgen:75758","HP:0008202"],"information_content":100.0}
{"id":"MONDO:0009912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prolactin deficiency with obesity and enlarged testes","equivalent_identifiers":["MONDO:0009912","OMIM:264120","UMLS:C1849698","MESH:C564870","medgen:341515"],"information_content":100.0}
{"id":"MONDO:0009914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudodiastrophic dysplasia","equivalent_identifiers":["MONDO:0009914","OMIM:264180","orphanet:85174","UMLS:C0432206","MESH:C535826","SNOMEDCT:254058002","medgen:140924","icd11.foundation:902021042"],"information_content":100.0}
{"id":"MONDO:0009915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XX disorder of sex development-skeletal anomalies syndrome","equivalent_identifiers":["MONDO:0009915","OMIM:264270","orphanet:2975","UMLS:C1849696","MESH:C564869","medgen:341514"],"information_content":100.0}
{"id":"MONDO:0009916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","equivalent_identifiers":["MONDO:0009916","DOID:0112248","OMIM:264300","orphanet:752","UMLS:C0268296","UMLS:C1849695","UMLS:C4694050","MESH:C537805","MESH:C564868","NCIT:C120203","SNOMEDCT:50658006","medgen:120626","icd11.foundation:887793448"],"information_content":100.0}
{"id":"MONDO:0009917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoaldosteronism, type IB1, autosomal recessive","equivalent_identifiers":["MONDO:0009917","OMIM:264350","orphanet:171876","UMLS:C1449843","UMLS:C5774176","medgen:1823950"],"information_content":100.0}
{"id":"MONDO:0009918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fundus dystrophy, pseudoinflammatory, recessive form","equivalent_identifiers":["MONDO:0009918","OMIM:264420","UMLS:C1849694","UMLS:C2931032","MESH:C535828","medgen:337888"],"information_content":100.0}
{"id":"MONDO:0009919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroxisomal acyl-CoA oxidase deficiency","equivalent_identifiers":["MONDO:0009919","DOID:0050797","OMIM:264470","orphanet:2971","UMLS:C1849678","MESH:C536662","NCIT:C170437","SNOMEDCT:238069004","medgen:376636","icd11.foundation:927825451"],"information_content":100.0}
{"id":"MONDO:0009920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acrootoocular syndrome","equivalent_identifiers":["MONDO:0009920","OMIM:264475","orphanet:2980","UMLS:C1849661","MESH:C564866","SNOMEDCT:720410001","medgen:337882"],"information_content":100.0}
{"id":"MONDO:0009921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly-postaxial polydactyly syndrome","equivalent_identifiers":["MONDO:0009921","OMIM:264480","orphanet:2166","UMLS:C1849649","MESH:C535829","NCIT:C125418","SNOMEDCT:716091000","medgen:340382"],"information_content":100.0}
{"id":"MONDO:0009922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pseudouridinuria and mental defect","equivalent_identifiers":["MONDO:0009922","OMIM:264500","UMLS:C1849648","MESH:C564864","medgen:376629"],"information_content":100.0}
{"id":"MONDO:0009923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Micropenis","equivalent_identifiers":["MONDO:0009923","OMIM:264600","orphanet:753","UMLS:C0268297","UMLS:C3669122","UMLS:C4551492","MESH:C535830","MEDDRA:10000029","MEDDRA:10071706","NCIT:C98699","SNOMEDCT:57514000","SNOMEDCT:738771004","medgen:75667","icd11.foundation:1028755501","HP:0000054"],"information_content":100.0}
{"id":"MONDO:0009924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin D-dependent rickets, type 1","equivalent_identifiers":["MONDO:0009924","orphanet:289157","UMLS:C0268689","MESH:C562688","NCIT:C131073","SNOMEDCT:67049004","medgen:124344","icd11.foundation:1270705227"],"information_content":92.8}
{"id":"MONDO:0009925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive inherited pseudoxanthoma elasticum","equivalent_identifiers":["MONDO:0009925","DOID:2738","OMIM:264800","orphanet:758","UMLS:C0376359","UMLS:C1275116","UMLS:C3279392","MESH:D011561","NCIT:C85036","SNOMEDCT:402782006","SNOMEDCT:403812000","SNOMEDCT:72744008","medgen:698415","icd11.foundation:1516160852"],"information_content":100.0}
{"id":"MONDO:0009926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive multiple pterygium syndrome","equivalent_identifiers":["MONDO:0009926","OMIM:265000","orphanet:2990","UMLS:C0265261","MEDDRA:10085738","NCIT:C101039","SNOMEDCT:80773006","medgen:82696","icd11.foundation:1502158121"],"information_content":95.4}
{"id":"MONDO:0009927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3MC syndrome 2","equivalent_identifiers":["MONDO:0009927","DOID:0060576","OMIM:265050","EFO:1001977","UMLS:C0796279","MESH:C535586","medgen:167115"],"information_content":100.0}
{"id":"MONDO:0009928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary alveolar microlithiasis","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009928","DOID:12117","OMIM:265100","orphanet:60025","UMLS:C0155912","MESH:C562405","MEDDRA:10037315","SNOMEDCT:87153008","medgen:56374","icd11.foundation:1220010076","ICD10:J84.02","ICD9:516.2"],"information_content":100.0}
{"id":"MONDO:0009929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"surfactant metabolism dysfunction, pulmonary, 1","equivalent_identifiers":["MONDO:0009929","OMIM:265120","orphanet:217563","UMLS:C1968602","MESH:C566882","NCIT:C99068","medgen:368844"],"information_content":100.0}
{"id":"MONDO:0009931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary atresia-intact ventricular septum syndrome","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009931","OMIM:265150","orphanet:1208","UMLS:C0344975","MESH:C562832","NCIT:C99032","SNOMEDCT:253590009","medgen:87491","icd11.foundation:131289265"],"information_content":100.0}
{"id":"MONDO:0009932","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary bullae causing pneumothorax","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009932","OMIM:265200","UMLS:C1849566","MESH:C564863","medgen:337856"],"information_content":100.0}
{"id":"MONDO:0009933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital pulmonary lymphangiectasia","equivalent_identifiers":["MONDO:0009933","OMIM:265300","orphanet:2414","UMLS:C1849554","MESH:C537727","NCIT:C99034","SNOMEDCT:45142002","medgen:340355","icd11.foundation:2069435755"],"information_content":100.0}
{"id":"MONDO:0009934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alveolar capillary dysplasia with misalignment of pulmonary veins","equivalent_identifiers":["MONDO:0009934","DOID:13042","OMIM:265380","orphanet:210122","UMLS:C2677362","UMLS:C2960310","MESH:C536590","MEDDRA:10077023","NCIT:C98809","SNOMEDCT:447275002","SNOMEDCT:708028001","medgen:755478","ICD10:P29.3","ICD9:747.83","HP:0033208"],"information_content":100.0}
{"id":"MONDO:0009935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary hypertension, primary, autosomal recessive","equivalent_identifiers":["MONDO:0009935","OMIM:265400","UMLS:C1849552","UMLS:C5676877","MESH:C564862","medgen:1802382"],"information_content":100.0}
{"id":"MONDO:0009936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial primary pulmonary hypoplasia","equivalent_identifiers":["MONDO:0009936","OMIM:265430","orphanet:2257","UMLS:C0456891","SNOMEDCT:277656005","medgen:141589","icd11.foundation:1778475393"],"information_content":100.0}
{"id":"MONDO:0009937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary venoocclusive disease","equivalent_identifiers":["MONDO:0009937","DOID:5453","OMIM.PS:265450","orphanet:31837","UMLS:C0034091","UMLS:C4280802","MESH:D011668","MEDDRA:10037458","NCIT:C85039","SNOMEDCT:89420002","medgen:18769","HP:0006518"],"information_content":92.8}
{"id":"MONDO:0009938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonic stenosis","equivalent_identifiers":["MONDO:0009938","OMIM:265500","UMLS:C1956257","MEDDRA:10037433","MEDDRA:10037460","NCIT:C50715","SNOMEDCT:56786000","medgen:408291","HP:0001642"],"information_content":84.2}
{"id":"MONDO:0009940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pycnodysostosis","equivalent_identifiers":["MONDO:0009940","DOID:0080038","OMIM:265800","orphanet:763","UMLS:C0238402","MESH:D058631","MEDDRA:10082973","NCIT:C131187","SNOMEDCT:89647000","medgen:116061","icd11.foundation:1329974152"],"information_content":100.0}
{"id":"MONDO:0009942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyknoachondrogenesis","equivalent_identifiers":["MONDO:0009942","OMIM:265880","orphanet:3003","UMLS:C1849523","MESH:C536251","SNOMEDCT:719258003","medgen:337844","icd11.foundation:588435239"],"information_content":100.0}
{"id":"MONDO:0009943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pyle disease","equivalent_identifiers":["MONDO:0009943","DOID:0080019","OMIM:265900","orphanet:3005","UMLS:C0265294","UMLS:C5194606","MESH:C536252","MEDDRA:10066147","MEDDRA:10066148","SNOMEDCT:27837003","medgen:82704","icd11.foundation:651364947","HP:0100255"],"information_content":90.9}
{"id":"MONDO:0009944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyloric atresia","equivalent_identifiers":["MONDO:0009944","OMIM:265950","UMLS:C0266159","MESH:C562561","SNOMEDCT:27729002","medgen:75601"],"information_content":100.0}
{"id":"MONDO:0009945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyridoxine-dependent epilepsy","equivalent_identifiers":["MONDO:0009945","DOID:0080768","orphanet:3006","UMLS:C1849508","MESH:C536254","SNOMEDCT:734434007","medgen:340341"],"information_content":92.8}
{"id":"MONDO:0009946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic anemia due to pyrimidine 5' nucleotidase deficiency","equivalent_identifiers":["MONDO:0009946","DOID:0051007","OMIM:266120","orphanet:35120","UMLS:C1849507","MESH:C564859","medgen:341470"],"information_content":100.0}
{"id":"MONDO:0009947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glutathione synthetase deficiency with 5-oxoprolinuria","equivalent_identifiers":["MONDO:0009947","DOID:0081034","OMIM:266130","orphanet:289846","UMLS:C0398746","UMLS:C5848078","MEDDRA:10079364","SNOMEDCT:124706000","SNOMEDCT:39112005","medgen:97988","icd11.foundation:2005562438","HP:0003343"],"information_content":100.0}
{"id":"MONDO:0009948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyropoikilocytosis, hereditary","equivalent_identifiers":["MONDO:0009948","DOID:0061026","OMIM:266140","UMLS:C0520739","MESH:C563004","MEDDRA:10086642","NCIT:C98943","SNOMEDCT:9434008","medgen:141708","HP:0004839"],"information_content":100.0}
{"id":"MONDO:0009949","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate carboxylase deficiency disease","equivalent_identifiers":["MONDO:0009949","DOID:3651","OMIM:266150","orphanet:3008","EFO:1001142","UMLS:C0034341","UMLS:C2931141","MESH:C536255","MESH:D015324","MEDDRA:10077944","NCIT:C85040","SNOMEDCT:87694001","medgen:18801","icd11.foundation:2047948460"],"information_content":90.9}
{"id":"MONDO:0009950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate kinase deficiency of red cells","equivalent_identifiers":["MONDO:0009950","DOID:0111077","OMIM:266200","orphanet:766","UMLS:C0340968","MESH:C564858","NCIT:C99037","SNOMEDCT:124331002","medgen:473069"],"information_content":100.0}
{"id":"MONDO:0009951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radiculoneuropathy, fatal neonatal","equivalent_identifiers":["MONDO:0009951","OMIM:266250","UMLS:C1849471","MESH:C564857","medgen:376592"],"information_content":100.0}
{"id":"MONDO:0009952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radioulnar synostosis-developmental delay-hypotonia syndrome","equivalent_identifiers":["MONDO:0009952","OMIM:266255","orphanet:3270","UMLS:C1849470","UMLS:C2931776","MESH:C538217","MESH:C564856","SNOMEDCT:721883006","medgen:341460"],"information_content":100.0}
{"id":"MONDO:0009953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukocyte adhesion deficiency type II","equivalent_identifiers":["MONDO:0009953","DOID:0070255","DOID:0080492","OMIM:266265","orphanet:99843","UMLS:C0398739","MESH:C535755","MEDDRA:10090497","NCIT:C4690","SNOMEDCT:234583001","medgen:96022"],"information_content":92.8}
{"id":"MONDO:0009954","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ramon syndrome","equivalent_identifiers":["MONDO:0009954","DOID:0070650","OMIM:266270","orphanet:3019","UMLS:C0796133","MESH:C535285","medgen:208669","icd11.foundation:122538435"],"information_content":100.0}
{"id":"MONDO:0009955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rapadilino syndrome","equivalent_identifiers":["MONDO:0009955","DOID:0050774","OMIM:266280","orphanet:3021","UMLS:C1849453","MESH:C535288","MEDDRA:10088963","SNOMEDCT:702413000","medgen:336602","icd11.foundation:1439614760"],"information_content":100.0}
{"id":"MONDO:0009956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"red skin pigment anomaly of new guinea","equivalent_identifiers":["MONDO:0009956","OMIM:266350","UMLS:C1849451","MESH:C535515","medgen:341457"],"information_content":100.0}
{"id":"MONDO:0009957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reese retinal dysplasia","equivalent_identifiers":["MONDO:0009957","OMIM:266400","UMLS:C1849450","MESH:C564854","medgen:341456"],"information_content":100.0}
{"id":"MONDO:0009958","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Refsum disease","equivalent_identifiers":["MONDO:0009958","DOID:10582","OMIM:266500","orphanet:773","UMLS:C0034960","UMLS:C2749345","MESH:C567602","MESH:D012035","MEDDRA:10034999","MEDDRA:10038275","NCIT:C85043","SNOMEDCT:25362006","medgen:11161","ICD9:356.3"],"information_content":100.0}
{"id":"MONDO:0009959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroxisome biogenesis disorder type 3B","equivalent_identifiers":["MONDO:0009959","DOID:0081241","OMIM:266510","UMLS:C3550693","NCIT:C155753","medgen:763607"],"information_content":100.0}
{"id":"MONDO:0009960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 1","equivalent_identifiers":["MONDO:0009960","DOID:0110892","OMIM:266600","UMLS:C2675113"],"information_content":100.0}
{"id":"MONDO:0009962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Loken syndrome 1","equivalent_identifiers":["MONDO:0009962","OMIM:266900","UMLS:C4551559","SNOMEDCT:236531005","medgen:1639722"],"information_content":100.0}
{"id":"MONDO:0009963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ulbright-Hodes syndrome","equivalent_identifiers":["MONDO:0009963","OMIM:266910","orphanet:3404","UMLS:C1849438","MESH:C537754","SNOMEDCT:719840003","medgen:376585"],"information_content":100.0}
{"id":"MONDO:0009964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 9 with or without polydactyly","equivalent_identifiers":["MONDO:0009964","DOID:0110097","OMIM:266920","orphanet:140969","UMLS:C1849437","MESH:C535463","MEDDRA:10088468","SNOMEDCT:254092004","medgen:341455"],"information_content":100.0}
{"id":"MONDO:0009965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perlman syndrome","equivalent_identifiers":["MONDO:0009965","DOID:0060476","DOID:5572","OMIM:130650","OMIM:267000","orphanet:2849","UMLS:C0004903","UMLS:C0796113","UMLS:C1851719","MESH:C536399","MESH:D001506","MEDDRA:10050344","MEDDRA:10088870","NCIT:C103144","NCIT:C34415","SNOMEDCT:722231005","SNOMEDCT:81780002","medgen:162909","icd11.foundation:795682441","ICD10:Q87.3"],"information_content":78.5}
{"id":"MONDO:0009966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NPHP3-related Meckel-like syndrome","equivalent_identifiers":["MONDO:0009966","DOID:0070121","OMIM:267010","orphanet:3032","UMLS:C2673885","MESH:C537756","SNOMEDCT:773737004","medgen:382217"],"information_content":100.0}
{"id":"MONDO:0009967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubular acidosis 3","equivalent_identifiers":["MONDO:0009967","OMIM:267200","UMLS:C1849435","MESH:C537759","medgen:336601"],"information_content":100.0}
{"id":"MONDO:0009968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss","equivalent_identifiers":["MONDO:0009968","OMIM:267300","UMLS:C0403554","UMLS:C4016429","UMLS:C4302514","MESH:C562897","SNOMEDCT:236532003","SNOMEDCT:722468005","medgen:98336"],"information_content":100.0}
{"id":"MONDO:0009969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal-genital-middle ear anomalies","equivalent_identifiers":["MONDO:0009969","OMIM:267400","UMLS:C1849432","MESH:C564849","medgen:341454"],"information_content":100.0}
{"id":"MONDO:0009970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubular dysgenesis of genetic origin","equivalent_identifiers":["MONDO:0009970","OMIM:267430","orphanet:97369","UMLS:C2678367","UMLS:C5681536","MESH:C567491","medgen:1826125","icd11.foundation:616055520"],"information_content":95.4}
{"id":"MONDO:0009971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"respiratory distress syndrome in premature infants","equivalent_identifiers":["MONDO:0009971","OMIM:267450","UMLS:C1968593","MESH:C566881","medgen:368840","icd11.foundation:343716587"],"information_content":100.0}
{"id":"MONDO:0009973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reticular dysgenesis","equivalent_identifiers":["MONDO:0009973","DOID:0060020","OMIM:267500","orphanet:33355","UMLS:C0272167","MESH:C538361","NCIT:C27070","SNOMEDCT:111584000","medgen:124417"],"information_content":95.4}
{"id":"MONDO:0009974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hemophagocytic lymphohistiocytosis type 1","equivalent_identifiers":["MONDO:0009974","DOID:0110921","OMIM:267700","UMLS:C4551514","NCIT:C61276","medgen:1642840"],"information_content":83.1}
{"id":"MONDO:0009975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reticulosarcoma","equivalent_identifiers":["MONDO:0009975","DOID:8538","OMIM:267730","orphanet:86900","EFO:0005287","UMLS:C0024302","MEDDRA:10038804","NCIT:C27824","SNOMEDCT:189982000","SNOMEDCT:373168002","medgen:44224","ICD9:200.0"],"information_content":95.4}
{"id":"MONDO:0009976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal degeneration and epilepsy","equivalent_identifiers":["MONDO:0009976","OMIM:267740","UMLS:C1849416","MESH:C564847","medgen:341450"],"information_content":100.0}
{"id":"MONDO:0009978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal degeneration-nanophthalmos-glaucoma syndrome","equivalent_identifiers":["MONDO:0009978","OMIM:267760","orphanet:1574","UMLS:C2931831","MESH:C538364","SNOMEDCT:723503006","medgen:444153"],"information_content":100.0}
{"id":"MONDO:0009979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reticular dystrophy of the retinal pigment epithelium","equivalent_identifiers":["MONDO:0009979","OMIM:179840","orphanet:99002","UMLS:C1867332","MESH:C566721","SNOMEDCT:723502001","medgen:356753","icd11.foundation:878593681"],"information_content":95.4}
{"id":"MONDO:0009980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal telangiectasia and hypogammaglobulinemia","equivalent_identifiers":["MONDO:0009980","OMIM:267900","UMLS:C2930961","MESH:C535638","medgen:419680"],"information_content":100.0}
{"id":"MONDO:0009983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome","equivalent_identifiers":["MONDO:0009983","OMIM:268020","orphanet:3085","UMLS:C1849401","MESH:C564841","medgen:340317"],"information_content":100.0}
{"id":"MONDO:0009984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late-adult onset retinitis pigmentosa","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009984","DOID:0110421","OMIM:268025","UMLS:C1849400","MESH:C564840","medgen:340316"],"information_content":100.0}
{"id":"MONDO:0009987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive pericentral pigmentary retinopathy","equivalent_identifiers":["MONDO:0009987","DOID:0110422","OMIM:268060","UMLS:C1849398","MESH:C564838","medgen:340314","HP:0007947"],"information_content":100.0}
{"id":"MONDO:0009992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoglobinuria, acute recurrent, autosomal recessive","equivalent_identifiers":["MONDO:0009992","OMIM:268200","UMLS:C1849386","MESH:C564832","medgen:340308"],"information_content":100.0}
{"id":"MONDO:0009993","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"embryonal rhabdomyosarcoma","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0009993","DOID:3246","OMIM:268210","orphanet:99757","EFO:0000437","UMLS:C0206656","UMLS:C1849385","MESH:C537883","MESH:D018233","MEDDRA:10065868","NCIT:C8971","SNOMEDCT:14269005","SNOMEDCT:404051002","medgen:104910","HP:0006743"],"information_content":81.7}
{"id":"MONDO:0009994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alveolar rhabdomyosarcoma","equivalent_identifiers":["MONDO:0009994","DOID:4051","OMIM:268220","orphanet:99756","EFO:0000248","UMLS:C0206655","UMLS:C0279613","MESH:D018232","MEDDRA:10065867","NCIT:C3749","NCIT:C7958","SNOMEDCT:404053004","SNOMEDCT:63449009","medgen:61651","icd11.foundation:1742058067","HP:0006779"],"information_content":81.3}
{"id":"MONDO:0009996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhizomelic syndrome, Urbach type","equivalent_identifiers":["MONDO:0009996","OMIM:268250","orphanet:3098","UMLS:C1849382","MESH:C537611","medgen:376574"],"information_content":100.0}
{"id":"MONDO:0009998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Richieri Costa-Pereira syndrome","equivalent_identifiers":["MONDO:0009998","OMIM:268305","orphanet:3102","UMLS:C1849348","MESH:C535677","SNOMEDCT:723998001","medgen:336581","icd11.foundation:107084177"],"information_content":100.0}
{"id":"MONDO:0009999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive Robinow syndrome","equivalent_identifiers":["MONDO:0009999","DOID:0060764","OMIM:268310","orphanet:1507","UMLS:C1849334","UMLS:C3151609","UMLS:C3151610","UMLS:C5399974","MESH:C535863","SNOMEDCT:890237005","medgen:1770070","icd11.foundation:793292660"],"information_content":100.0}
{"id":"MONDO:0010000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction","equivalent_identifiers":["MONDO:0010000","OMIM:268315","UMLS:C1849333","MESH:C564829","medgen:376565"],"information_content":100.0}
{"id":"MONDO:0010001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia-blindness syndrome","equivalent_identifiers":["MONDO:0010001","OMIM:268320","orphanet:1806","UMLS:C1849332","MESH:C535865","medgen:340297"],"information_content":100.0}
{"id":"MONDO:0010004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"EEC syndrome","equivalent_identifiers":["MONDO:0010004","DOID:0060782","OMIM:268650","orphanet:1896","UMLS:C0406704","MESH:C536189","NCIT:C148261","SNOMEDCT:39788007","medgen:98357"],"information_content":92.8}
{"id":"MONDO:0010005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"saccharopinuria","equivalent_identifiers":["MONDO:0010005","OMIM:268700","orphanet:3124","UMLS:C0268556","UMLS:C2936921","MESH:C537218","SNOMEDCT:111397004","medgen:75693","HP:0034028"],"information_content":100.0}
{"id":"MONDO:0010006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sandhoff disease","equivalent_identifiers":["MONDO:0010006","DOID:3323","OMIM:268800","orphanet:796","UMLS:C0036161","MESH:D012497","MEDDRA:10081314","NCIT:C85052","SNOMEDCT:23849003","medgen:11313","icd11.foundation:708581915","ICD10:E75.01"],"information_content":90.9}
{"id":"MONDO:0010007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microbrachycephaly-ptosis-cleft lip syndrome","equivalent_identifiers":["MONDO:0010007","OMIM:268850","orphanet:2511","UMLS:C0796142","MESH:C563119","medgen:162914"],"information_content":100.0}
{"id":"MONDO:0010008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sarcosinemia","equivalent_identifiers":["MONDO:0010008","DOID:0112307","OMIM:268900","orphanet:3129","UMLS:C0268563","MESH:C537236","MEDDRA:10059299","MEDDRA:10059310","SNOMEDCT:64852002","medgen:120651","icd11.foundation:1901733714","HP:0010896"],"information_content":100.0}
{"id":"MONDO:0010010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schinzel-Giedion syndrome","equivalent_identifiers":["MONDO:0010010","DOID:0070509","OMIM:269150","orphanet:798","UMLS:C0265227","MESH:C536632","MEDDRA:10063540","NCIT:C129308","SNOMEDCT:18899000","medgen:120517","icd11.foundation:1542318431"],"information_content":100.0}
{"id":"MONDO:0010011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizencephaly","equivalent_identifiers":["MONDO:0010011","OMIM:269160","orphanet:799","UMLS:C0266484","UMLS:C0302892","MESH:D065707","MEDDRA:10036169","MEDDRA:10036171","MEDDRA:10036172","MEDDRA:10073487","NCIT:C99056","SNOMEDCT:253159001","SNOMEDCT:38353004","medgen:78606","icd11.foundation:1693546163","HP:0010636"],"information_content":90.9}
{"id":"MONDO:0010012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune polyendocrinopathy type 2","equivalent_identifiers":["MONDO:0010012","DOID:0050168","OMIM:269200","orphanet:3143","UMLS:C0085860","MEDDRA:10036073","MEDDRA:10075506","MEDDRA:10083966","NCIT:C129728","SNOMEDCT:83728000","medgen:39126","icd11.foundation:1065249344"],"information_content":100.0}
{"id":"MONDO:0010013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Snail-like ilia","equivalent_identifiers":["MONDO:0010013","DOID:0050775","OMIM:269250","orphanet:3144","UMLS:C0432194","UMLS:C1849290","MESH:C536637","SNOMEDCT:254049009","medgen:98475","icd11.foundation:584032448","HP:0031026"],"information_content":100.0}
{"id":"MONDO:0010014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniometadiaphyseal dysplasia, wormian bone type","equivalent_identifiers":["MONDO:0010014","OMIM:269300","orphanet:85184","UMLS:C4510809","SNOMEDCT:278833002","SNOMEDCT:725099009","medgen:1382152","icd11.foundation:1055011248"],"information_content":100.0}
{"id":"MONDO:0010015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior segment dysgenesis 7","equivalent_identifiers":["MONDO:0010015","DOID:0080612","OMIM:269400","orphanet:289499","UMLS:C3151617","medgen:462967"],"information_content":100.0}
{"id":"MONDO:0010016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sclerosteosis 1","equivalent_identifiers":["MONDO:0010016","DOID:0060756","OMIM:269500","UMLS:C4551483","medgen:1642815","ICD10:M85.2"],"information_content":100.0}
{"id":"MONDO:0010017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sea-blue histiocyte syndrome","equivalent_identifiers":["MONDO:0010017","DOID:4423","OMIM:269600","orphanet:158029","UMLS:C0036489","MESH:D012618","NCIT:C85062","SNOMEDCT:37821003","medgen:19908","HP:0001982"],"information_content":100.0}
{"id":"MONDO:0010018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"second metatarsal-metacarpal syndrome","equivalent_identifiers":["MONDO:0010018","OMIM:269630","UMLS:C1849259","MESH:C564824","medgen:341415"],"information_content":100.0}
{"id":"MONDO:0010019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secretory component deficiency","equivalent_identifiers":["MONDO:0010019","OMIM:269650","UMLS:C0398709","MESH:C562869","SNOMEDCT:234554004","medgen:140769","HP:0004433"],"information_content":100.0}
{"id":"MONDO:0010020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital generalized lipodystrophy type 2","equivalent_identifiers":["MONDO:0010020","DOID:0111136","OMIM:269700","UMLS:C1720863","medgen:318593"],"information_content":100.0}
{"id":"MONDO:0010023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to ZAP70 deficiency","equivalent_identifiers":["MONDO:0010023","DOID:0111943","OMIM:269840","orphanet:911","UMLS:C1849236","UMLS:C2931299","UMLS:C5575025","MESH:C536722","MESH:C537590","NCIT:C176821","SNOMEDCT:716378008","medgen:1809040","icd11.foundation:1718367094"],"information_content":100.0}
{"id":"MONDO:0010024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Beemer-Langer syndrome","equivalent_identifiers":["MONDO:0010024","DOID:9249","OMIM:269860","orphanet:93268","UMLS:C0432198","MESH:C537599","SNOMEDCT:254052001","medgen:96578"],"information_content":100.0}
{"id":"MONDO:0010026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SHORT syndrome","equivalent_identifiers":["MONDO:0010026","DOID:0111454","OMIM:269880","orphanet:3163","UMLS:C0878684","MESH:C537327","MEDDRA:10090250","medgen:164212","icd11.foundation:1264512044"],"information_content":100.0}
{"id":"MONDO:0010027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"free sialic acid storage disease, infantile form","equivalent_identifiers":["MONDO:0010027","OMIM:269920","orphanet:309324","UMLS:C1096902","UMLS:C2930923","UMLS:C2931471","MESH:C535525","MESH:C537332","SNOMEDCT:34566007","medgen:203367"],"information_content":100.0}
{"id":"MONDO:0010028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sialuria","equivalent_identifiers":["MONDO:0010028","DOID:3659","OMIM:269921","orphanet:3166","UMLS:C0342853","MESH:D029461","MEDDRA:10067529","SNOMEDCT:238051008","medgen:137980","icd11.foundation:154329034"],"information_content":100.0}
{"id":"MONDO:0010029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"situs inversus","equivalent_identifiers":["MONDO:0010029","DOID:0080324","DOID:13515","DOID:758","OMIM:191100","orphanet:101063","UMLS:C0037221","UMLS:C0041341","UMLS:C1854465","UMLS:C4551493","MESH:C565346","MESH:D012857","MESH:D014402","MEDDRA:10015057","MEDDRA:10015058","MEDDRA:10040761","MEDDRA:10045138","MEDDRA:10058894","MEDDRA:10080584","NCIT:C3424","NCIT:C75122","NCIT:C87121","SNOMEDCT:24614000","SNOMEDCT:27317008","SNOMEDCT:43876007","SNOMEDCT:7199000","medgen:1642262","icd11.foundation:797648408","ICD10:Q85.1","ICD9:759.3","ICD9:759.5","HP:0001696"],"information_content":78.5}
{"id":"MONDO:0010030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sicca Syndrome","equivalent_identifiers":["MONDO:0010030","DOID:12894","OMIM:270150","orphanet:289390","EFO:0000699","UMLS:C0086981","UMLS:C1527336","MESH:D012859","MEDDRA:10018626","MEDDRA:10040633","MEDDRA:10040765","MEDDRA:10040766","MEDDRA:10040767","MEDDRA:10042844","MEDDRA:10042846","MEDDRA:10059142","NCIT:C26883","NCIT:C70647","SNOMEDCT:83901003","medgen:282890","icd11.foundation:899463360","ICD10:M35.0","ICD9:710.2"],"information_content":86.3}
{"id":"MONDO:0010031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sjogren-Larsson syndrome","equivalent_identifiers":["MONDO:0010031","DOID:14501","OMIM:270200","orphanet:816","UMLS:C0037231","MESH:D016111","MEDDRA:10048676","MEDDRA:10059143","NCIT:C85070","SNOMEDCT:111303009","medgen:11443","icd11.foundation:418359090"],"information_content":95.4}
{"id":"MONDO:0010035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Smith-Lemli-Opitz syndrome","equivalent_identifiers":["MONDO:0010035","DOID:14692","OMIM:270400","orphanet:818","UMLS:C0175694","MESH:D019082","MEDDRA:10078573","NCIT:C85071","SNOMEDCT:43929004","medgen:61231","icd11.foundation:1231469858","ICD10:E78.72"],"information_content":100.0}
{"id":"MONDO:0010036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital secretory sodium diarrhea 3","equivalent_identifiers":["MONDO:0010036","DOID:0060781","OMIM:270420","UMLS:C5441927","MESH:C562576","medgen:1778108"],"information_content":100.0}
{"id":"MONDO:0010037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sodium-potassium-ATPase activity of red cell","equivalent_identifiers":["MONDO:0010037","OMIM:270425","UMLS:C1849169","medgen:376532"],"information_content":100.0}
{"id":"MONDO:0010038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth delay due to insulin-like growth factor I resistance","equivalent_identifiers":["MONDO:0010038","OMIM:270450","orphanet:73273","UMLS:C1849157","UMLS:C1849158","MESH:C564816","MESH:C564817","NCIT:C120107","SNOMEDCT:715625007","medgen:338622","icd11.foundation:272435490"],"information_content":100.0}
{"id":"MONDO:0010039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sonoda syndrome","equivalent_identifiers":["MONDO:0010039","OMIM:270460","orphanet:1355","UMLS:C0796162","MESH:C536680","SNOMEDCT:715987000","medgen:167108"],"information_content":100.0}
{"id":"MONDO:0010041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charlevoix-Saguenay spastic ataxia","equivalent_identifiers":["MONDO:0010041","DOID:0050946","OMIM:270550","orphanet:98","UMLS:C1849140","MESH:C536787","MEDDRA:10085993","MEDDRA:10085994","NCIT:C154614","SNOMEDCT:702445005","medgen:338620"],"information_content":100.0}
{"id":"MONDO:0010042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic diplegia and intellectual disability","equivalent_identifiers":["MONDO:0010042","OMIM:270600","UMLS:C1849139","MESH:C537481","medgen:376526"],"information_content":100.0}
{"id":"MONDO:0010043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 17","equivalent_identifiers":["MONDO:0010043","DOID:0110770","OMIM:270685","orphanet:100998","UMLS:C2931276","MESH:C536644","SNOMEDCT:230263009","medgen:419034"],"information_content":100.0}
{"id":"MONDO:0010044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 15","equivalent_identifiers":["MONDO:0010044","DOID:0110768","OMIM:270700","orphanet:100996","UMLS:C1849128","MESH:C536642","SNOMEDCT:709417000","SNOMEDCT:764686003","medgen:341387"],"information_content":100.0}
{"id":"MONDO:0010046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 23","equivalent_identifiers":["MONDO:0010046","DOID:0110774","OMIM:270750","orphanet:101003","UMLS:C0796019","MESH:C536859","SNOMEDCT:726608002","medgen:167094"],"information_content":100.0}
{"id":"MONDO:0010047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 5A","equivalent_identifiers":["MONDO:0010047","DOID:0110810","OMIM:270800","orphanet:100986","UMLS:C1849115","MESH:C564811","NCIT:C177250","SNOMEDCT:763373005","medgen:376521"],"information_content":100.0}
{"id":"MONDO:0010049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia-glaucoma-intellectual disability syndrome","equivalent_identifiers":["MONDO:0010049","OMIM:270850","orphanet:2818","UMLS:C1849113","MESH:C564809","medgen:376520"],"information_content":100.0}
{"id":"MONDO:0010051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","equivalent_identifiers":["MONDO:0010051","OMIM:270950","orphanet:3011","UMLS:C1849112","MESH:C564808","medgen:376519"],"information_content":100.0}
{"id":"MONDO:0010052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 4","equivalent_identifiers":["MONDO:0010052","DOID:0070176","OMIM:270960","UMLS:C0232981","UMLS:C3279437","MESH:C536875","MEDDRA:10041494","MEDDRA:10041495","SNOMEDCT:85716005","medgen:68568"],"information_content":100.0}
{"id":"MONDO:0010053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spherocytosis type 3","equivalent_identifiers":["MONDO:0010053","DOID:0110918","OMIM:270970","UMLS:C2678338","MESH:C567489","medgen:394798"],"information_content":100.0}
{"id":"MONDO:0010055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy with microcephaly and mental subnormality","equivalent_identifiers":["MONDO:0010055","OMIM:271110","UMLS:C1849108","UMLS:C5935682","MESH:C564806","medgen:1856346"],"information_content":100.0}
{"id":"MONDO:0010056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy, type IV","equivalent_identifiers":["MONDO:0010056","DOID:0050529","OMIM:271150","orphanet:83420","UMLS:C0270765","UMLS:C1838230","MESH:C563948","MEDDRA:10068209","MEDDRA:10079414","SNOMEDCT:85505000","medgen:325364","icd11.foundation:443229384","ICD10:G12.1"],"information_content":100.0}
{"id":"MONDO:0010057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy, Ryukyuan type","equivalent_identifiers":["MONDO:0010057","OMIM:271200","UMLS:C1849102","MESH:C536881","medgen:376517"],"information_content":100.0}
{"id":"MONDO:0010058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scapuloperoneal spinal muscular atrophy, autosomal recessive","equivalent_identifiers":["MONDO:0010058","OMIM:271220"],"information_content":100.0}
{"id":"MONDO:0010060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 7 (hepatocerebral type)","equivalent_identifiers":["MONDO:0010060","DOID:0080126","OMIM:271245","orphanet:1186","UMLS:C1849096","MESH:C535523","SNOMEDCT:724227000","medgen:338613"],"information_content":100.0}
{"id":"MONDO:0010061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cerebellar ataxia-blindness-deafness syndrome","equivalent_identifiers":["MONDO:0010061","DOID:0111612","orphanet:95433","UMLS:C1849094","MESH:C537309","SNOMEDCT:1204415006","medgen:338611"],"information_content":100.0}
{"id":"MONDO:0010062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia-dysmorphism syndrome","equivalent_identifiers":["MONDO:0010062","OMIM:271270","orphanet:1185","UMLS:C1849088","MESH:C564802","medgen:336495"],"information_content":100.0}
{"id":"MONDO:0010063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal-cerebellar syndrome","equivalent_identifiers":["MONDO:0010063","OMIM:271310","orphanet:3177","UMLS:C1849087","MESH:C535472","SNOMEDCT:720750004","medgen:341379","icd11.foundation:577494924"],"information_content":100.0}
{"id":"MONDO:0010064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia-corneal dystrophy syndrome","equivalent_identifiers":["MONDO:0010064","OMIM:271320","orphanet:2572","UMLS:C1849085","MESH:C536989","SNOMEDCT:715465001","medgen:336493"],"information_content":100.0}
{"id":"MONDO:0010066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated congenital asplenia","equivalent_identifiers":["MONDO:0010066","OMIM:271400","orphanet:101351","UMLS:C0685889","UMLS:C4512055","MESH:C563028","SNOMEDCT:205735005","SNOMEDCT:726708009","SNOMEDCT:93292008","medgen:151935"],"information_content":100.0}
{"id":"MONDO:0010067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenoportal vascular anomalies","equivalent_identifiers":["MONDO:0010067","OMIM:271500","UMLS:C0340826","MESH:C562761","SNOMEDCT:234131004","medgen:137945"],"information_content":100.0}
{"id":"MONDO:0010068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, sponastrime type","equivalent_identifiers":["MONDO:0010068","DOID:5684","OMIM:271510","orphanet:93357","UMLS:C0920349","UMLS:C1300260","MESH:C535786","NCIT:C129031","NCIT:C92206","SNOMEDCT:389161008","medgen:266247"],"information_content":100.0}
{"id":"MONDO:0010069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocostal dysostosis-anal and genitourinary malformations syndrome","equivalent_identifiers":["MONDO:0010069","OMIM:271520","UMLS:C1849069","MESH:C564799","SNOMEDCT:723610009","medgen:341373"],"information_content":100.0}
{"id":"MONDO:0010070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachyolmia type 1, Hobaek type","equivalent_identifiers":["MONDO:0010070","OMIM:271530","UMLS:C1849055","MESH:C537099","MEDDRA:10081835","medgen:338605","icd11.foundation:1213374086"],"information_content":100.0}
{"id":"MONDO:0010072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia tarda, autosomal recessive","equivalent_identifiers":["MONDO:0010072","DOID:0112293","OMIM:271600","UMLS:C1849054","MESH:C564797","medgen:338604"],"information_content":100.0}
{"id":"MONDO:0010073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia tarda, Kohn type","equivalent_identifiers":["MONDO:0010073","DOID:0112292","OMIM:271620","orphanet:163665","UMLS:C1849053","UMLS:C4304888","MESH:C564796","SNOMEDCT:719202006","medgen:338603","icd11.foundation:758715188"],"information_content":100.0}
{"id":"MONDO:0010074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachyolmia type 1, toledo type","equivalent_identifiers":["MONDO:0010074","OMIM:271630","UMLS:C1849048","MESH:C535787","MEDDRA:10081836","medgen:376504","icd11.foundation:637954533"],"information_content":100.0}
{"id":"MONDO:0010075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures","equivalent_identifiers":["MONDO:0010075","DOID:0112198","OMIM:271640","orphanet:642099","UMLS:C4017377","SNOMEDCT:1286833006","medgen:865814"],"information_content":100.0}
{"id":"MONDO:0010076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Irapa type","equivalent_identifiers":["MONDO:0010076","OMIM:271650","orphanet:93351","UMLS:C0432213","MESH:C562958","SNOMEDCT:717330004","medgen:98476","icd11.foundation:1355637988"],"information_content":100.0}
{"id":"MONDO:0010077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome","equivalent_identifiers":["MONDO:0010077","DOID:0112196","OMIM:271665","orphanet:93358","UMLS:C1849011","MESH:C564794","medgen:338595"],"information_content":100.0}
{"id":"MONDO:0010078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloperipheral dysplasia","equivalent_identifiers":["MONDO:0010078","DOID:0112195","OMIM:271700","orphanet:1856","UMLS:C0796173","MESH:C535799","NCIT:C135088","SNOMEDCT:702339001","medgen:163223"],"information_content":100.0}
{"id":"MONDO:0010079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Canavan disease","equivalent_identifiers":["MONDO:0010079","DOID:3613","OMIM:271900","orphanet:141","UMLS:C0206307","MESH:D017825","MEDDRA:10067608","NCIT:C84611","SNOMEDCT:80544005","medgen:61565","icd11.foundation:1576870846"],"information_content":92.8}
{"id":"MONDO:0010080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial infantile bilateral striatal necrosis","equivalent_identifiers":["MONDO:0010080","OMIM:271930","orphanet:225154","UMLS:C4087174","MEDDRA:10077450","SNOMEDCT:1208478005","medgen:1672478","icd11.foundation:1873983370"],"information_content":95.4}
{"id":"MONDO:0010082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Onat syndrome","equivalent_identifiers":["MONDO:0010082","OMIM:271960","orphanet:3191","UMLS:C0795947","MESH:C537749","SNOMEDCT:783096008","medgen:167085"],"information_content":100.0}
{"id":"MONDO:0010083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"succinic semialdehyde dehydrogenase deficiency","equivalent_identifiers":["MONDO:0010083","DOID:0060175","OMIM:271980","orphanet:22","UMLS:C0268631","MESH:C535803","SNOMEDCT:49748000","medgen:124340"],"information_content":100.0}
{"id":"MONDO:0010085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schilder disease","equivalent_identifiers":["MONDO:0010085","OMIM:272100","orphanet:59298","UMLS:C0007795","MESH:D002549","MEDDRA:10039595","MEDDRA:10049020","MEDDRA:10062949","NCIT:C84670","SNOMEDCT:49692006","medgen:3324","HP:0006918"],"information_content":100.0}
{"id":"MONDO:0010087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sugarman brachydactyly","equivalent_identifiers":["MONDO:0010087","DOID:0110979","OMIM:272150","orphanet:498602","UMLS:C5399870","SNOMEDCT:1187132007","medgen:1777636"],"information_content":100.0}
{"id":"MONDO:0010088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucosulfatidosis","equivalent_identifiers":["MONDO:0010088","DOID:0050441","OMIM:272200","orphanet:585","UMLS:C0268263","UMLS:C1720864","MESH:D052517","NCIT:C84908","SNOMEDCT:54898003","medgen:75664","icd11.foundation:848083807","ICD10:E75.26"],"information_content":100.0}
{"id":"MONDO:0010089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated sulfite oxidase deficiency","equivalent_identifiers":["MONDO:0010089","DOID:0111270","OMIM:272300","orphanet:99731","UMLS:C0268624","MESH:C538141","SNOMEDCT:367368009","medgen:78695","icd11.foundation:963607692","HP:0003643"],"information_content":100.0}
{"id":"MONDO:0010091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cold-induced sweating syndrome 1","equivalent_identifiers":["MONDO:0010091","DOID:0080329","OMIM:272430","orphanet:1545","UMLS:C1848947","MESH:C536214","NCIT:C173147","SNOMEDCT:725097006","medgen:338577"],"information_content":100.0}
{"id":"MONDO:0010092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Filippi syndrome","equivalent_identifiers":["MONDO:0010092","DOID:0112194","OMIM:272440","orphanet:3255","UMLS:C0795940","MESH:C538152","MEDDRA:10083943","SNOMEDCT:720954000","medgen:163197","icd11.foundation:1989471300"],"information_content":100.0}
{"id":"MONDO:0010093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndesmodysplasic dwarfism","equivalent_identifiers":["MONDO:0010093","OMIM:272450","UMLS:C2931647","MESH:C537869","medgen:419461"],"information_content":100.0}
{"id":"MONDO:0010094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocarpotarsal synostosis syndrome","equivalent_identifiers":["MONDO:0010094","DOID:0090116","OMIM:272460","orphanet:3275","UMLS:C1848934","MESH:C535780","SNOMEDCT:702351004","medgen:341339","ICD10:Q76.4"],"information_content":100.0}
{"id":"MONDO:0010095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia-tapetoretinal degeneration syndrome","equivalent_identifiers":["MONDO:0010095","OMIM:272600","orphanet:1178","UMLS:C1848932","MESH:C564788","medgen:336461"],"information_content":100.0}
{"id":"MONDO:0010096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tardive dyskinesia","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0010096","OMIM:272620","UMLS:C0686347","UMLS:C3714760","MESH:D000071057","MEDDRA:10013928","MEDDRA:10043118","SNOMEDCT:102449007","medgen:151939","HP:0040141"],"information_content":100.0}
{"id":"MONDO:0010097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tatsumi factor deficiency","equivalent_identifiers":["MONDO:0010097","OMIM:272650","UMLS:C1848931","MESH:C564787","medgen:336460"],"information_content":100.0}
{"id":"MONDO:0010098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"taurodontism","equivalent_identifiers":["MONDO:0010098","OMIM:272700","UMLS:C0266039","UMLS:C4280616","MESH:C536946","MEDDRA:10087780","SNOMEDCT:51744007","medgen:75596","icd11.foundation:356382747","HP:0000679"],"information_content":100.0}
{"id":"MONDO:0010099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tay-Sachs disease AB variant","equivalent_identifiers":["MONDO:0010099","DOID:4795","OMIM:272750","orphanet:309246","UMLS:C0268275","MESH:D049290","NCIT:C133084","SNOMEDCT:71253000","medgen:78657"],"information_content":100.0}
{"id":"MONDO:0010100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tay-Sachs disease","equivalent_identifiers":["MONDO:0010100","DOID:3320","OMIM:272800","orphanet:845","UMLS:C0039373","UMLS:C0268277","UMLS:C0282220","UMLS:C1848913","UMLS:C1848915","UMLS:C1848917","UMLS:C2749283","MESH:C564782","MESH:C564784","MESH:C564786","MESH:C567601","MESH:D013661","MEDDRA:10043147","MEDDRA:10061888","NCIT:C85184","SNOMEDCT:111385000","SNOMEDCT:49562005","medgen:11713","icd11.foundation:215008783","ICD10:E75.02"],"information_content":89.4}
{"id":"MONDO:0010101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Teebi-Shaltout syndrome","equivalent_identifiers":["MONDO:0010101","OMIM:272950","orphanet:3291","UMLS:C1848912","MESH:C536950","SNOMEDCT:771265006","medgen:376472"],"information_content":100.0}
{"id":"MONDO:0010103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"teeth, fused","equivalent_identifiers":["MONDO:0010103","OMIM:273000","UMLS:C0016873","MESH:D005671","MEDDRA:10088308","SNOMEDCT:1744008","medgen:4808","HP:0011090"],"information_content":100.0}
{"id":"MONDO:0010104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome","equivalent_identifiers":["MONDO:0010104","OMIM:273050","orphanet:2972","UMLS:C1848903","UMLS:C2931509","MESH:C536952","MESH:C537496","SNOMEDCT:723442008","medgen:341331"],"information_content":100.0}
{"id":"MONDO:0010105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pineal Teratoma","equivalent_identifiers":["MONDO:0010105","OMIM:273120","UMLS:C1848902","MESH:C537401","medgen:336449"],"information_content":100.0}
{"id":"MONDO:0010106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testes, rudimentary","equivalent_identifiers":["MONDO:0010106","OMIM:273150","UMLS:C1848901","medgen:336448"],"information_content":100.0}
{"id":"MONDO:0010108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular germ cell tumor","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0010108","DOID:5557","OMIM:273300","orphanet:363504","EFO:1000566","UMLS:C1336708","UMLS:C3463918","MESH:C563236","MEDDRA:10075811","MEDDRA:10075819","NCIT:C8591","SNOMEDCT:713577007","medgen:277809"],"information_content":68.2}
{"id":"MONDO:0010109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities","equivalent_identifiers":["MONDO:0010109","OMIM:273390","UMLS:C2931214","MESH:C536496","medgen:444003"],"information_content":100.0}
{"id":"MONDO:0010110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetraamelia-multiple malformations syndrome","equivalent_identifiers":["MONDO:0010110","DOID:0112191","OMIM.PS:273395","orphanet:3301","UMLS:C2931218","MESH:C536500","SNOMEDCT:716249009","medgen:419746"],"information_content":92.8}
{"id":"MONDO:0010111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontotrichomelic syndrome","equivalent_identifiers":["MONDO:0010111","OMIM:273400","orphanet:2723","UMLS:C2930960","MESH:C535637","SNOMEDCT:239028001","medgen:443944","icd11.foundation:1999951139"],"information_content":100.0}
{"id":"MONDO:0010114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thanatophoric dysplasia, Glasgow variant","equivalent_identifiers":["MONDO:0010114","OMIM:273680","UMLS:C1848865","MESH:C536506","medgen:376457"],"information_content":100.0}
{"id":"MONDO:0010115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thoracic dysplasia-hydrocephalus syndrome","equivalent_identifiers":["MONDO:0010115","OMIM:273730","orphanet:1861","UMLS:C1848864","MESH:C564774","SNOMEDCT:782951006","medgen:338562"],"information_content":100.0}
{"id":"MONDO:0010116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thoracomelic dysplasia","equivalent_identifiers":["MONDO:0010116","OMIM:273740","orphanet:1803","UMLS:C1848863","UMLS:C2931227","MESH:C536516","MESH:C564773","SNOMEDCT:783003009","medgen:336441","icd11.foundation:1284518024"],"information_content":100.0}
{"id":"MONDO:0010117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3M syndrome 1","equivalent_identifiers":["MONDO:0010117","OMIM:273750","UMLS:C2678312","medgen:395592"],"information_content":100.0}
{"id":"MONDO:0010118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited threoninemia","equivalent_identifiers":["MONDO:0010118","OMIM:273770","UMLS:C1848861","medgen:336439","HP:0003354"],"information_content":95.4}
{"id":"MONDO:0010120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 3","equivalent_identifiers":["MONDO:0010120","OMIM:273900","UMLS:C2678311","MESH:C567487","medgen:437174"],"information_content":100.0}
{"id":"MONDO:0010121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia-absent radius syndrome","equivalent_identifiers":["MONDO:0010121","DOID:14699","OMIM:274000","orphanet:3320","UMLS:C0175703","MESH:C536940","MEDDRA:10071719","MEDDRA:10071720","NCIT:C99038","SNOMEDCT:85589009","medgen:61235"],"information_content":100.0}
{"id":"MONDO:0010122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital thrombotic thrombocytopenic purpura","equivalent_identifiers":["MONDO:0010122","OMIM:274150","orphanet:93583","UMLS:C1268935","UMLS:C1956258","MEDDRA:10091107","MEDDRA:10091188","NCIT:C131657","SNOMEDCT:373420004","medgen:224783"],"information_content":100.0}
{"id":"MONDO:0010124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thumb, distal hyperextensibility of","equivalent_identifiers":["MONDO:0010124","OMIM:274200","UMLS:C1848817","medgen:338552"],"information_content":100.0}
{"id":"MONDO:0010125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"upper limb defect-eye and ear abnormalities syndrome","equivalent_identifiers":["MONDO:0010125","OMIM:274205","orphanet:2489","UMLS:C1848816","MESH:C564769","medgen:376448"],"information_content":100.0}
{"id":"MONDO:0010127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thymoma, familial","equivalent_identifiers":["MONDO:0010127","OMIM:274230","UMLS:C1848814","MESH:C564767","medgen:376447"],"information_content":100.0}
{"id":"MONDO:0010128","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyrocerebrorenal syndrome","equivalent_identifiers":["MONDO:0010128","OMIM:274240","orphanet:3327","UMLS:C1848813","UMLS:C4518579","MESH:C536908","SNOMEDCT:733096007","medgen:341311"],"information_content":100.0}
{"id":"MONDO:0010129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thymic-renal-anal-lung dysplasia","equivalent_identifiers":["MONDO:0010129","OMIM:274265","orphanet:3326","UMLS:C1848812","MESH:C536907","SNOMEDCT:723555007","medgen:336425"],"information_content":100.0}
{"id":"MONDO:0010130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dihydropyrimidine dehydrogenase deficiency","equivalent_identifiers":["MONDO:0010130","DOID:14218","OMIM:274270","orphanet:1675","UMLS:C0274576","UMLS:C1959620","UMLS:C4025582","MESH:D054067","MEDDRA:10052622","MEDDRA:10075669","NCIT:C84672","SNOMEDCT:32393008","SNOMEDCT:77365006","medgen:409522","icd11.foundation:701689290","HP:0003654"],"information_content":92.8}
{"id":"MONDO:0010131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid hormone resistance, generalized, autosomal recessive","equivalent_identifiers":["MONDO:0010131","OMIM:274300","UMLS:C3489796","MESH:C567936","MEDDRA:10091074","NCIT:C85191","medgen:483749"],"information_content":100.0}
{"id":"MONDO:0010132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial thyroid dyshormonogenesis","equivalent_identifiers":["MONDO:0010132","DOID:0112183","OMIM.PS:274400","orphanet:95716","UMLS:C4273748","MESH:C564766","NCIT:C121751","SNOMEDCT:718183003","medgen:903446"],"information_content":87.2}
{"id":"MONDO:0010133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid dyshormonogenesis 2A","equivalent_identifiers":["MONDO:0010133","DOID:0112186","OMIM:274500","UMLS:C1291299","MESH:C563206","NCIT:C121750","SNOMEDCT:124204003","medgen:226940"],"information_content":100.0}
{"id":"MONDO:0010134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pendred syndrome","equivalent_identifiers":["MONDO:0010134","DOID:0060744","OMIM:274600","orphanet:705","UMLS:C0271829","MESH:C536648","MEDDRA:10080398","NCIT:C121745","SNOMEDCT:70348004","medgen:82890","icd11.foundation:1156056623","ICD10:E07.1"],"information_content":100.0}
{"id":"MONDO:0010135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid dyshormonogenesis 3","equivalent_identifiers":["MONDO:0010135","DOID:0112187","OMIM:274700","UMLS:C0342194","MESH:C562769","SNOMEDCT:23536000","medgen:90976"],"information_content":100.0}
{"id":"MONDO:0010136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid dyshormonogenesis 4","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0010136","DOID:0112188","OMIM:274800","UMLS:C0342195","MESH:C562770","NCIT:C131435","SNOMEDCT:17885001","medgen:87429"],"information_content":100.0}
{"id":"MONDO:0010137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid dyshormonogenesis 5","equivalent_identifiers":["MONDO:0010137","DOID:0112184","OMIM:274900","UMLS:C0342196","MESH:C562771","SNOMEDCT:63127008","medgen:87430"],"information_content":100.0}
{"id":"MONDO:0010139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated thyroid-stimulating hormone deficiency","equivalent_identifiers":["MONDO:0010139","DOID:0070123","OMIM:275100","orphanet:90674","UMLS:C0271789","UMLS:C1848794","UMLS:C3665349","UMLS:C4082174","MESH:C000603735","MESH:C000610012","MESH:C564765","MEDDRA:10039840","MEDDRA:10049517","MEDDRA:10078564","MEDDRA:10078571","MEDDRA:10078572","MEDDRA:10090564","NCIT:C121743","SNOMEDCT:82598004","SNOMEDCT:89261000","medgen:78786","HP:0008245"],"information_content":100.0}
{"id":"MONDO:0010140","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated thyrotropin-releasing hormone deficiency","equivalent_identifiers":["MONDO:0010140","OMIM:275120","orphanet:238670","UMLS:C0220998","UMLS:C0271585","UMLS:C3887992","MEDDRA:10090557","NCIT:C121741","SNOMEDCT:10736002","SNOMEDCT:37429009","medgen:113137","HP:0008237"],"information_content":100.0}
{"id":"MONDO:0010142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypothyroidism due to TSH receptor mutations","equivalent_identifiers":["MONDO:0010142","DOID:0070126","OMIM:275200","orphanet:90673","UMLS:C3493776","MESH:C576976","SNOMEDCT:1230272009","medgen:487729"],"information_content":100.0}
{"id":"MONDO:0010144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tibial hemimelia","equivalent_identifiers":["MONDO:0010144","OMIM:275220","orphanet:93322","UMLS:C0265633","MESH:C535563","MEDDRA:10079730","SNOMEDCT:1003515004","SNOMEDCT:275346000","SNOMEDCT:79177001","medgen:120551","icd11.foundation:1111258427"],"information_content":92.8}
{"id":"MONDO:0010146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kerion celsi","equivalent_identifiers":["MONDO:0010146","OMIM:275240","orphanet:499","UMLS:C0276742","MEDDRA:10023375","SNOMEDCT:19087001","medgen:124446","icd11.foundation:1449494917","HP:6000424"],"information_content":100.0}
{"id":"MONDO:0010147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tongue, pigmented fungiform papillae of","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0010147","OMIM:275250","UMLS:C1848756","medgen:336411"],"information_content":100.0}
{"id":"MONDO:0010148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mounier-Kuhn syndrome","equivalent_identifiers":["MONDO:0010148","OMIM:275300","orphanet:3347","UMLS:C0040587","UMLS:C2713583","MESH:D014137","MEDDRA:10044316","MEDDRA:10082485","NCIT:C85196","SNOMEDCT:57451009","medgen:11871"],"information_content":100.0}
{"id":"MONDO:0010149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transcobalamin II deficiency","equivalent_identifiers":["MONDO:0010149","DOID:0050818","OMIM:275350","orphanet:859","UMLS:C0342701","NCIT:C142806","SNOMEDCT:237934001","medgen:137976"],"information_content":100.0}
{"id":"MONDO:0010150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"head and neck squamous cell carcinoma","equivalent_identifiers":["MONDO:0010150","DOID:5520","OMIM:275355","EFO:0000181","UMLS:C1168401","MESH:C535575","MESH:D000077195","MEDDRA:10060121","NCIT:C34447","SNOMEDCT:716659002","medgen:257911"],"information_content":62.2}
{"id":"MONDO:0010151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tricarboxylic acid cycle, defect of","equivalent_identifiers":["MONDO:0010151","OMIM:275370","UMLS:C1848746","MESH:C564762","medgen:376430"],"information_content":100.0}
{"id":"MONDO:0010152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichomegaly-retina pigmentary degeneration-dwarfism syndrome","equivalent_identifiers":["MONDO:0010152","DOID:0111271","OMIM:275400","orphanet:3363","UMLS:C1848745","MESH:C536554","MEDDRA:10073654","SNOMEDCT:719944006","medgen:338532"],"information_content":100.0}
{"id":"MONDO:0010155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dorfman-Chanarin disease","equivalent_identifiers":["MONDO:0010155","OMIM:275630","orphanet:98907","UMLS:C0268238","MESH:C536560","SNOMEDCT:19604005","medgen:82780","icd11.foundation:690728790"],"information_content":100.0}
{"id":"MONDO:0010156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Troyer syndrome","equivalent_identifiers":["MONDO:0010156","DOID:0050886","OMIM:275900","orphanet:101000","UMLS:C0393559","MESH:C536858","SNOMEDCT:230264003","medgen:97950","ICD10:G11.4"],"information_content":100.0}
{"id":"MONDO:0010157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tryptophanuria with dwarfism","equivalent_identifiers":["MONDO:0010157","OMIM:276100","UMLS:C0268473","MESH:C562658","SNOMEDCT:12045002","medgen:78680"],"information_content":100.0}
{"id":"MONDO:0010158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-substance anomaly","equivalent_identifiers":["MONDO:0010158","OMIM:276200","UMLS:C1848724","medgen:338528"],"information_content":100.0}
{"id":"MONDO:0010160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tyrosinemia type II","equivalent_identifiers":["MONDO:0010160","DOID:0050725","OMIM:276600","orphanet:28378","UMLS:C0268487","MEDDRA:10069460","MEDDRA:10069463","NCIT:C129032","SNOMEDCT:124287008","SNOMEDCT:4887000","medgen:75687","icd11.foundation:1900229795"],"information_content":100.0}
{"id":"MONDO:0010161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tyrosinemia type I","equivalent_identifiers":["MONDO:0010161","DOID:0050726","OMIM:276700","orphanet:882","UMLS:C0268490","MEDDRA:10069459","MEDDRA:10069462","NCIT:C98641","SNOMEDCT:124536006","SNOMEDCT:410056006","medgen:75688","icd11.foundation:2029519782"],"information_content":100.0}
{"id":"MONDO:0010162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tyrosinemia type III","equivalent_identifiers":["MONDO:0010162","DOID:0050727","OMIM:276710","orphanet:69723","UMLS:C0268623","MEDDRA:10069461","MEDDRA:10069464","SNOMEDCT:413356003","SNOMEDCT:415764005","medgen:78694"],"information_content":100.0}
{"id":"MONDO:0010163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tyrosinosis","equivalent_identifiers":["MONDO:0010163","OMIM:276800","UMLS:C0268484","MESH:C562659","SNOMEDCT:57414003","medgen:78683"],"information_content":100.0}
{"id":"MONDO:0010164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phocomelia, Schinzel type","equivalent_identifiers":["MONDO:0010164","DOID:0112181","OMIM:276820","orphanet:2879","UMLS:C1848651","MESH:C535612","SNOMEDCT:715522000","medgen:336388","icd11.foundation:1732271544"],"information_content":100.0}
{"id":"MONDO:0010165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulna hypoplasia-intellectual disability syndrome","equivalent_identifiers":["MONDO:0010165","OMIM:276821","orphanet:2249","UMLS:C1848650","MESH:C564757","medgen:341275"],"information_content":100.0}
{"id":"MONDO:0010166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulnar agenesis and endocardial fibroelastosis","equivalent_identifiers":["MONDO:0010166","OMIM:276822","UMLS:C1848649","MESH:C564756","medgen:336387"],"information_content":100.0}
{"id":"MONDO:0010167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urocanic aciduria","equivalent_identifiers":["MONDO:0010167","DOID:0112180","OMIM:276880","orphanet:210128","UMLS:C0268514","MESH:C536479","SNOMEDCT:60952007","medgen:120644","icd11.foundation:61773927","HP:0012237"],"information_content":100.0}
{"id":"MONDO:0010168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 1","equivalent_identifiers":["MONDO:0010168","DOID:0110826","orphanet:231169","UMLS:C1568247","NCIT:C126327","SNOMEDCT:232057003","medgen:292820","icd11.foundation:237039059"],"information_content":84.2}
{"id":"MONDO:0010169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 2A","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0010169","DOID:0110838","OMIM:276901","UMLS:C1848634","MESH:C536490","medgen:338513"],"information_content":100.0}
{"id":"MONDO:0010170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 3A","equivalent_identifiers":["MONDO:0010170","DOID:0110841","OMIM:276902","UMLS:C5779850","medgen:1830415"],"information_content":100.0}
{"id":"MONDO:0010171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 1C","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0010171","DOID:0110830","OMIM:276904","UMLS:C1848604","MESH:C564753","medgen:338506"],"information_content":100.0}
{"id":"MONDO:0010172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"VACTERL with hydrocephalus","equivalent_identifiers":["MONDO:0010172","OMIM:276950","orphanet:3412","UMLS:C1848599","UMLS:C1848600","UMLS:C2749240","MESH:C564751","MESH:C564752","medgen:376400","icd11.foundation:1646268729"],"information_content":95.4}
{"id":"MONDO:0010173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mayer-Rokitansky-Kuster-Hauser syndrome type 1","equivalent_identifiers":["MONDO:0010173","DOID:0112178","OMIM:277000","orphanet:247775","UMLS:C5566555","SNOMEDCT:1162832007","medgen:1797978"],"information_content":100.0}
{"id":"MONDO:0010174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Valinemia","equivalent_identifiers":["MONDO:0010174","OMIM:277100","UMLS:C0268573","MESH:C536524","SNOMEDCT:47719001","medgen:120652","HP:0010910"],"information_content":92.8}
{"id":"MONDO:0010175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van Bogaert-Hozay syndrome","equivalent_identifiers":["MONDO:0010175","OMIM:277150","UMLS:C1848598","MESH:C536526","medgen:341263"],"information_content":100.0}
{"id":"MONDO:0010176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome type 6","equivalent_identifiers":["MONDO:0010176","DOID:0060376","OMIM:277170","orphanet:2754","UMLS:C2745997","MESH:C536531","NCIT:C124841","SNOMEDCT:721873007","medgen:411200"],"information_content":100.0}
{"id":"MONDO:0010177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vascular hyalinosis","equivalent_identifiers":["MONDO:0010177","OMIM:277175","orphanet:3018","UMLS:C1848590","MESH:C564750","MEDDRA:10080428","medgen:376398"],"information_content":100.0}
{"id":"MONDO:0010178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bilateral aplasia of vas deferens from CFTR mutation","equivalent_identifiers":["MONDO:0010178","DOID:0111864","OMIM:277180","UMLS:C0403814","MESH:C535984","NCIT:C129303","medgen:98021"],"information_content":100.0}
{"id":"MONDO:0010179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated right ventricular hypoplasia","equivalent_identifiers":["MONDO:0010179","OMIM:277200","orphanet:439","UMLS:C1848587","MESH:C535682","SNOMEDCT:718135001","medgen:336377"],"information_content":100.0}
{"id":"MONDO:0010180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spondylocostal dysostosis","equivalent_identifiers":["MONDO:0010180","orphanet:2311","MESH:C535781","SNOMEDCT:61367005"],"information_content":88.2}
{"id":"MONDO:0010181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculogastrointestinal muscular dystrophy","equivalent_identifiers":["MONDO:0010181","OMIM:277320","orphanet:1876","UMLS:C1848586","MESH:C536350","SNOMEDCT:722060007","medgen:336376","icd11.foundation:1205053137"],"information_content":100.0}
{"id":"MONDO:0010182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercarotenemia and vitamin A deficiency, autosomal recessive","equivalent_identifiers":["MONDO:0010182","OMIM:277350","UMLS:C2678266","MESH:C567486","medgen:395578"],"information_content":100.0}
{"id":"MONDO:0010183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic aciduria and homocystinuria type cblF","equivalent_identifiers":["MONDO:0010183","DOID:0050717","OMIM:277380","orphanet:79284","UMLS:C0268591","UMLS:C1848578","MESH:C564747","NCIT:C183525","SNOMEDCT:4409006","SNOMEDCT:80887004","medgen:336373"],"information_content":100.0}
{"id":"MONDO:0010184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic aciduria and homocystinuria type cblC","equivalent_identifiers":["MONDO:0010184","DOID:0050715","OMIM:277400","orphanet:79282","UMLS:C1848561","UMLS:C4693974","NCIT:C142174","SNOMEDCT:74653006","medgen:341256"],"information_content":100.0}
{"id":"MONDO:0010185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic aciduria and homocystinuria type cblD","equivalent_identifiers":["MONDO:0010185","DOID:0050716","OMIM:277410","orphanet:79283","UMLS:C0342724","UMLS:C1848552","MESH:C564743","NCIT:C183524","SNOMEDCT:31220004","medgen:341253"],"information_content":100.0}
{"id":"MONDO:0010186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin D-dependent rickets, type 2A","equivalent_identifiers":["MONDO:0010186","DOID:0080884","OMIM:277440","UMLS:C0342646","MESH:C562794","NCIT:C131075","SNOMEDCT:237894002","medgen:90989"],"information_content":100.0}
{"id":"MONDO:0010187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin K-dependent clotting factors, combined deficiency of, type 1","equivalent_identifiers":["MONDO:0010187","DOID:0112173","OMIM:277450","UMLS:C1848534","MESH:C564741","SNOMEDCT:724356003","medgen:376381"],"information_content":100.0}
{"id":"MONDO:0010188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated deficiency of vitamin E","equivalent_identifiers":["MONDO:0010188","DOID:0090028","OMIM:277460","orphanet:96","UMLS:C1848533","MESH:C535393","MEDDRA:10088735","NCIT:C155996","SNOMEDCT:702442008","medgen:341248"],"information_content":100.0}
{"id":"MONDO:0010190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 2A","equivalent_identifiers":["MONDO:0010190","DOID:0060267","OMIM:277470","UMLS:C1848526","MESH:C564738","medgen:376379"],"information_content":100.0}
{"id":"MONDO:0010191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Willebrand disease 3","equivalent_identifiers":["MONDO:0010191","DOID:0111054","OMIM:277480","orphanet:166096","UMLS:C1264041","MESH:D056729","NCIT:C85213","SNOMEDCT:128108002","medgen:266075","ICD10:D68.03"],"information_content":100.0}
{"id":"MONDO:0010192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 4A","equivalent_identifiers":["MONDO:0010192","DOID:0110953","OMIM:277580","UMLS:C1848519","MESH:C536467","medgen:341244"],"information_content":100.0}
{"id":"MONDO:0010193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weaver syndrome","equivalent_identifiers":["MONDO:0010193","DOID:14731","OMIM:277590","orphanet:3447","UMLS:C0220765","UMLS:C0265210","MESH:C536687","MESH:C562443","MEDDRA:10083271","NCIT:C125599","SNOMEDCT:63119004","medgen:120511","icd11.foundation:2042913723"],"information_content":100.0}
{"id":"MONDO:0010194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weill-Marchesani syndrome 1","equivalent_identifiers":["MONDO:0010194","OMIM:277600","UMLS:C1869114","UMLS:C4552002","medgen:1637058"],"information_content":100.0}
{"id":"MONDO:0010196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Werner syndrome","equivalent_identifiers":["MONDO:0010196","DOID:5688","OMIM:277700","orphanet:902","UMLS:C0043119","MESH:D014898","MEDDRA:10049429","NCIT:C3447","SNOMEDCT:51626007","medgen:12147","icd11.foundation:1864550134"],"information_content":90.9}
{"id":"MONDO:0010197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"whistling face syndrome, recessive form","equivalent_identifiers":["MONDO:0010197","DOID:0111606","OMIM:277720","UMLS:C1848470","MESH:C536699","medgen:376364"],"information_content":100.0}
{"id":"MONDO:0010198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wernicke-Korsakoff syndrome","equivalent_identifiers":["MONDO:0010198","DOID:10915","OMIM:277730","EFO:1001242","UMLS:C0349464","UMLS:C1622892","UMLS:C2931917","UMLS:C2931918","MESH:C538669","MESH:D020915","MEDDRA:10023485","MEDDRA:10047913","MEDDRA:10070997","MEDDRA:10070998","MEDDRA:10085656","NCIT:C35764","NCIT:C84803","SNOMEDCT:192811002","SNOMEDCT:69482004","medgen:83883","icd11.foundation:2017611840"],"information_content":95.4}
{"id":"MONDO:0010199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"white forelock with malformations","equivalent_identifiers":["MONDO:0010199","OMIM:277740","orphanet:2475","UMLS:C1848463","MESH:C536700","SNOMEDCT:763619009","medgen:376362"],"information_content":100.0}
{"id":"MONDO:0010200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilson disease","equivalent_identifiers":["MONDO:0010200","DOID:893","OMIM:277900","orphanet:905","UMLS:C0019202","MESH:D006527","MEDDRA:10019819","MEDDRA:10047988","NCIT:C84756","SNOMEDCT:190823004","SNOMEDCT:88518009","medgen:42426","icd11.foundation:468161208","ICD10:E83.01"],"information_content":100.0}
{"id":"MONDO:0010201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Winchester syndrome","equivalent_identifiers":["MONDO:0010201","DOID:0080696","OMIM:277950","UMLS:C0432289","MESH:C536709","MEDDRA:10078901","NCIT:C170731","SNOMEDCT:254151006","medgen:98152"],"information_content":100.0}
{"id":"MONDO:0010203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, Wolff type","equivalent_identifiers":["MONDO:0010203","OMIM:277990","orphanet:3080","UMLS:C1848439","MESH:C537448","SNOMEDCT:763745005","medgen:336345"],"information_content":100.0}
{"id":"MONDO:0010206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 8","equivalent_identifiers":["MONDO:0010206","DOID:0110705","OMIM:278150","UMLS:C3279470","MESH:C566950","medgen:481100"],"information_content":100.0}
{"id":"MONDO:0010207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome","equivalent_identifiers":["MONDO:0010207","OMIM:278200","UMLS:C0406718","MESH:C536746","SNOMEDCT:239023005","medgen:98033"],"information_content":100.0}
{"id":"MONDO:0010208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wrinkly skin syndrome","equivalent_identifiers":["MONDO:0010208","DOID:0112171","OMIM:278250","orphanet:2834","UMLS:C0406587","MESH:C536750","SNOMEDCT:238875009","medgen:98030","icd11.foundation:638767040"],"information_content":100.0}
{"id":"MONDO:0010209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xanthinuria type I","equivalent_identifiers":["MONDO:0010209","DOID:0070452","OMIM:278300","orphanet:93601","UMLS:C0268118","UMLS:C4025600","MESH:C562584","SNOMEDCT:124147007","SNOMEDCT:72682008","SNOMEDCT:836343001","medgen:82771","HP:0003534"],"information_content":100.0}
{"id":"MONDO:0010210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum group A","equivalent_identifiers":["MONDO:0010210","DOID:0110843","OMIM:278700","UMLS:C0268135","NCIT:C3965","SNOMEDCT:43477006","medgen:82775"],"information_content":89.4}
{"id":"MONDO:0010211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum group C","equivalent_identifiers":["MONDO:0010211","DOID:0110844","OMIM:278720","UMLS:C2752147","MESH:C567886","NCIT:C114770","SNOMEDCT:25784009","medgen:416702"],"information_content":100.0}
{"id":"MONDO:0010212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum group D","equivalent_identifiers":["MONDO:0010212","DOID:0110845","OMIM:278730","UMLS:C0268138","MESH:C562591","NCIT:C3967","SNOMEDCT:68637004","medgen:75656"],"information_content":90.9}
{"id":"MONDO:0010213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum group E","equivalent_identifiers":["MONDO:0010213","DOID:0110846","OMIM:278740","UMLS:C1848411","MESH:C564732","NCIT:C114771","SNOMEDCT:56048001","medgen:341219"],"information_content":100.0}
{"id":"MONDO:0010214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum variant type","equivalent_identifiers":["MONDO:0010214","DOID:0110847","OMIM:278750","orphanet:90342","UMLS:C1848410","MESH:C536766","NCIT:C141367","medgen:376352"],"information_content":100.0}
{"id":"MONDO:0010215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum group F","equivalent_identifiers":["MONDO:0010215","DOID:0110848","OMIM:278760","UMLS:C0268140","MESH:C562592","NCIT:C3968","SNOMEDCT:42530008","medgen:120612"],"information_content":90.9}
{"id":"MONDO:0010216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum group G","equivalent_identifiers":["MONDO:0010216","DOID:0110849","OMIM:278780","UMLS:C0268141","MESH:C562593","NCIT:C3969","SNOMEDCT:36454001","medgen:75657"],"information_content":92.8}
{"id":"MONDO:0010217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"de Sanctis-Cacchione syndrome","equivalent_identifiers":["MONDO:0010217","DOID:0112158","OMIM:278800","UMLS:C0265201","MESH:C535992","NCIT:C84666","SNOMEDCT:414673004","medgen:75550","icd11.foundation:594988031"],"information_content":100.0}
{"id":"MONDO:0010218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XX sex reversal 2","equivalent_identifiers":["MONDO:0010218","DOID:0111763","OMIM:278850","UMLS:C2749215","medgen:411414"],"information_content":100.0}
{"id":"MONDO:0010220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Young syndrome","equivalent_identifiers":["MONDO:0010220","OMIM:279000","orphanet:3471","UMLS:C0340037","MESH:C536718","MEDDRA:10063689","SNOMEDCT:233666007","medgen:137934","icd11.foundation:1628320490"],"information_content":100.0}
{"id":"MONDO:0010221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CHIME syndrome","equivalent_identifiers":["MONDO:0010221","DOID:0112152","OMIM:280000","orphanet:3474","UMLS:C1848392","MESH:C536729","SNOMEDCT:720639008","medgen:341214"],"information_content":100.0}
{"id":"MONDO:0010222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked Opitz G/BBB syndrome","equivalent_identifiers":["MONDO:0010222","OMIM:300000","UMLS:C2936904","MESH:C567932","medgen:424842"],"information_content":100.0}
{"id":"MONDO:0010224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Proud Syndrome","equivalent_identifiers":["MONDO:0010224","DOID:0112151","OMIM:300004","orphanet:2508","UMLS:C0796124","MESH:C563110","SNOMEDCT:763797003","medgen:163217"],"information_content":100.0}
{"id":"MONDO:0010225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dent disease 1","equivalent_identifiers":["MONDO:0010225","DOID:0081453","OMIM:300009","orphanet:93622","UMLS:C1848336","MESH:C538212","SNOMEDCT:717789008","medgen:336322","icd11.foundation:1984074789"],"information_content":100.0}
{"id":"MONDO:0010226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 2","equivalent_identifiers":["MONDO:0010226","DOID:0111777","OMIM:300018","UMLS:C1848296","MESH:C535601","NCIT:C202543","medgen:341190"],"information_content":100.0}
{"id":"MONDO:0010227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 3","equivalent_identifiers":["MONDO:0010227","DOID:0110414","OMIM:300029","UMLS:C1845667","MESH:C564520","medgen:336999"],"information_content":100.0}
{"id":"MONDO:0010228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, X-linked 3","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010228","DOID:0111736","OMIM:300030","UMLS:C3888089","MESH:C564727","medgen:854758"],"information_content":100.0}
{"id":"MONDO:0010230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 23","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010230","DOID:0112049","OMIM:300046","UMLS:C0796229","MESH:C563144","medgen:163234"],"information_content":100.0}
{"id":"MONDO:0010231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 20","inheritance":"X-linked inheritance","equivalent_identifiers":["MONDO:0010231","DOID:0112023","OMIM:300047","UMLS:C0796226","MESH:C563142","medgen:208677"],"information_content":100.0}
{"id":"MONDO:0010232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked","equivalent_identifiers":["MONDO:0010232","DOID:0080681","OMIM:300048","UMLS:C2746068","UMLS:C3806579","MESH:C535532","medgen:412536"],"information_content":100.0}
{"id":"MONDO:0010233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterotopia, periventricular, X-linked dominant","equivalent_identifiers":["MONDO:0010233","OMIM:300049","UMLS:C1845235","UMLS:C1848213","UMLS:C1848214","UMLS:C4551969","MESH:C564492","MESH:C564725","SNOMEDCT:448227009","medgen:376309"],"information_content":100.0}
{"id":"MONDO:0010235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-psychosis-macroorchidism syndrome","equivalent_identifiers":["MONDO:0010235","DOID:0060827","OMIM:300055","orphanet:3077","UMLS:C0796222","UMLS:C1848211","UMLS:C1968551","UMLS:C1968552","MESH:C563139","MESH:C564724","MESH:C566876","MESH:C566877","SNOMEDCT:702356009","medgen:163232","ICD10:F71.1"],"information_content":100.0}
{"id":"MONDO:0010236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 14","equivalent_identifiers":["MONDO:0010236","DOID:0112027","OMIM:300062","UMLS:C0796220","MESH:C537454","medgen:163231"],"information_content":100.0}
{"id":"MONDO:0010237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-plagiocephaly syndrome","equivalent_identifiers":["MONDO:0010237","OMIM:300064","orphanet:2898","UMLS:C2931516","MESH:C537512","SNOMEDCT:719812008","medgen:419824"],"information_content":100.0}
{"id":"MONDO:0010238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, X-linked 4","equivalent_identifiers":["MONDO:0010238","DOID:0111735","OMIM:300066","UMLS:C1848204","MESH:C564723","NCIT:C180844","medgen:376307"],"information_content":100.0}
{"id":"MONDO:0010239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly type 1 due to doublecortin gene mutation","equivalent_identifiers":["MONDO:0010239","DOID:0112239","OMIM:300067","orphanet:2148","UMLS:C1848070","UMLS:C1848200","UMLS:C4275012","UMLS:C4551968","MESH:C531731","MESH:C564722","SNOMEDCT:715780008","medgen:1644310","icd11.foundation:891064255"],"information_content":100.0}
{"id":"MONDO:0010241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness 2A","equivalent_identifiers":["MONDO:0010241","DOID:0110871","OMIM:300071","UMLS:C1848172","medgen:376299"],"information_content":100.0}
{"id":"MONDO:0010242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal akinesia syndrome, X-linked","equivalent_identifiers":["MONDO:0010242","DOID:0081043","OMIM:300073","UMLS:C1848171","MESH:C537921","medgen:341166"],"information_content":100.0}
{"id":"MONDO:0010243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked immunoneurologic disorder","equivalent_identifiers":["MONDO:0010243","OMIM:300076","orphanet:2571","UMLS:C1848144","MESH:C536743","SNOMEDCT:719827008","medgen:341162","icd11.foundation:1464555617"],"information_content":100.0}
{"id":"MONDO:0010244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CGF1","equivalent_identifiers":["MONDO:0010244","OMIM:300082","UMLS:C1848140","medgen:338395"],"information_content":100.0}
{"id":"MONDO:0010245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked cone-rod dystrophy 2","equivalent_identifiers":["MONDO:0010245","DOID:0111006","OMIM:300085","UMLS:C1848139","MESH:C564717","medgen:341161"],"information_content":100.0}
{"id":"MONDO:0010246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 9","equivalent_identifiers":["MONDO:0010246","DOID:0060848","OMIM:300088","orphanet:101039","UMLS:C1848137","MESH:C564715","NCIT:C201590","medgen:338393"],"information_content":100.0}
{"id":"MONDO:0010247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked cerebral adrenoleukodystrophy","equivalent_identifiers":["MONDO:0010247","orphanet:139396","UMLS:C2026514","medgen:1708324","icd11.foundation:1105019687"],"information_content":100.0}
{"id":"MONDO:0010248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked spondyloepimetaphyseal dysplasia","equivalent_identifiers":["MONDO:0010248","DOID:0112150","OMIM:300106","orphanet:93349","UMLS:C1848097","MESH:C564714","NCIT:C188996","SNOMEDCT:770603000","medgen:376281"],"information_content":100.0}
{"id":"MONDO:0010250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 49","equivalent_identifiers":["MONDO:0010250","DOID:0112060","OMIM:300114","orphanet:485350","UMLS:C0796221","SNOMEDCT:1172691004","medgen:923000"],"information_content":100.0}
{"id":"MONDO:0010251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 50","equivalent_identifiers":["MONDO:0010251","DOID:0112029","OMIM:300115","UMLS:C1848087","MESH:C564713","medgen:376278"],"information_content":100.0}
{"id":"MONDO:0010252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked, with panhypopituitarism","equivalent_identifiers":["MONDO:0010252","OMIM:300123","UMLS:C2678223","MESH:C567485","medgen:394771"],"information_content":100.0}
{"id":"MONDO:0010253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine, familial typical, susceptibility to, 2","equivalent_identifiers":["MONDO:0010253","OMIM:300125","UMLS:C1848066","medgen:341144"],"information_content":100.0}
{"id":"MONDO:0010256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 21","equivalent_identifiers":["MONDO:0010256","DOID:0112022","OMIM:300143","UMLS:C0796241","UMLS:C5551510","MESH:C563148","medgen:1790509"],"information_content":100.0}
{"id":"MONDO:0010257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate cancer, hereditary, X-linked 1","inheritance":"X-linked inheritance","equivalent_identifiers":["MONDO:0010257","OMIM:300147","UMLS:C1846279","medgen:339479"],"information_content":100.0}
{"id":"MONDO:0010258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MEHMO syndrome","equivalent_identifiers":["MONDO:0010258","DOID:0060801","OMIM:300148","orphanet:85282","UMLS:C1846278","MESH:C537451","SNOMEDCT:722037004","medgen:375855","icd11.foundation:500681653"],"information_content":100.0}
{"id":"MONDO:0010259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 24","equivalent_identifiers":["MONDO:0010259","DOID:0110416","OMIM:300155","UMLS:C3887982","medgen:854690"],"information_content":100.0}
{"id":"MONDO:0010260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, congenital, lower limb, X-linked","equivalent_identifiers":["MONDO:0010260","OMIM:300158","UMLS:C1846273","UMLS:C3502439","MESH:C564574","medgen:339477"],"information_content":100.0}
{"id":"MONDO:0010261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, syndromic 2","equivalent_identifiers":["MONDO:0010261","DOID:0111809","OMIM:300166","orphanet:2712","UMLS:C1846265","MESH:C537465","SNOMEDCT:699300009","medgen:337547"],"information_content":100.0}
{"id":"MONDO:0010263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AMME complex","equivalent_identifiers":["MONDO:0010263","DOID:0111860","OMIM:300194","orphanet:86818","UMLS:C1846242","MESH:C564570","SNOMEDCT:720982007","medgen:337424"],"information_content":95.4}
{"id":"MONDO:0010264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked adrenal hypoplasia congenita","equivalent_identifiers":["MONDO:0010264","DOID:0080156","OMIM:300200","orphanet:95702","UMLS:C0220766","UMLS:C0342482","MEDDRA:10049057","NCIT:C123725","SNOMEDCT:237764004","SNOMEDCT:93235007","medgen:87442","HP:0008244"],"information_content":95.4}
{"id":"MONDO:0010265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Simpson-Golabi-Behmel syndrome type 2","equivalent_identifiers":["MONDO:0010265","DOID:0080342","OMIM:300209","UMLS:C1846175","MESH:C564567","medgen:337527"],"information_content":100.0}
{"id":"MONDO:0010266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 58","equivalent_identifiers":["MONDO:0010266","DOID:0112024","OMIM:300210","UMLS:C1846174","MESH:C564566","medgen:337526"],"information_content":100.0}
{"id":"MONDO:0010267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic muscle weakness, X-linked","inheritance":"X-linked inheritance","equivalent_identifiers":["MONDO:0010267","OMIM:300211","UMLS:C1846173","MESH:C564565","medgen:337525"],"information_content":100.0}
{"id":"MONDO:0010268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked lissencephaly with abnormal genitalia","equivalent_identifiers":["MONDO:0010268","DOID:0112238","OMIM:300215","orphanet:452","UMLS:C1846171","UMLS:C1846172","MESH:C564563","SNOMEDCT:717632002","medgen:375832"],"information_content":100.0}
{"id":"MONDO:0010269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coats disease","equivalent_identifiers":["MONDO:0010269","DOID:7765","OMIM:300216","orphanet:190","UMLS:C0154832","UMLS:C5964756","MESH:D058456","MEDDRA:10015901","MEDDRA:10067489","SNOMEDCT:25506007","SNOMEDCT:360455002","medgen:102319","icd11.foundation:2032707885","ICD10:H35.02","ICD9:362.12","HP:0007898"],"information_content":100.0}
{"id":"MONDO:0010270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability 7","equivalent_identifiers":["MONDO:0010270","DOID:0060808","OMIM:300218","orphanet:85274","UMLS:C1846170","MESH:C537449","SNOMEDCT:719160009","medgen:337403"],"information_content":100.0}
{"id":"MONDO:0010271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked myotubular myopathy-abnormal genitalia syndrome","equivalent_identifiers":["MONDO:0010271","OMIM:300219","orphanet:456328","UMLS:C1846169","MESH:C564561","SNOMEDCT:1255278004","medgen:335354"],"information_content":100.0}
{"id":"MONDO:0010274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular germ cell tumor 1","equivalent_identifiers":["MONDO:0010274","OMIM:300228","UMLS:C1846164","MESH:C564559","medgen:337402"],"information_content":100.0}
{"id":"MONDO:0010275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Bieganski type","equivalent_identifiers":["MONDO:0010275","OMIM:300232","orphanet:83629","UMLS:C1846148","MESH:C536671","MESH:C567065","medgen:335350","icd11.foundation:1073330593"],"information_content":100.0}
{"id":"MONDO:0010277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Shashi type","equivalent_identifiers":["MONDO:0010277","DOID:0060826","OMIM:300238","orphanet:85286","UMLS:C1846145","UMLS:C4305085","MESH:C537135","SNOMEDCT:718900002","medgen:335348"],"information_content":100.0}
{"id":"MONDO:0010278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Christianson syndrome","equivalent_identifiers":["MONDO:0010278","DOID:0060825","OMIM:300243","orphanet:85278","UMLS:C1846130","UMLS:C2678194","MESH:C537450","MESH:C567484","NCIT:C181001","SNOMEDCT:702354007","medgen:394455"],"information_content":100.0}
{"id":"MONDO:0010279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"terminal osseous dysplasia-pigmentary defects syndrome","equivalent_identifiers":["MONDO:0010279","DOID:0112149","OMIM:300244","orphanet:88630","UMLS:C1846129","MESH:C564554","medgen:335344"],"information_content":100.0}
{"id":"MONDO:0010280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ptosis, hereditary congenital 2","equivalent_identifiers":["MONDO:0010280","OMIM:300245","UMLS:C1846128","MESH:C564553","medgen:337515"],"information_content":100.0}
{"id":"MONDO:0010281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Danon disease","equivalent_identifiers":["MONDO:0010281","DOID:0050437","OMIM:300257","orphanet:34587","EFO:1001333","UMLS:C0878677","MESH:D052120","MEDDRA:10071756","NCIT:C84735","SNOMEDCT:419097006","medgen:209235","icd11.foundation:1233188442"],"information_content":100.0}
{"id":"MONDO:0010283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Lubs type","equivalent_identifiers":["MONDO:0010283","DOID:0060799","OMIM:300260","orphanet:1762","UMLS:C1846058","MESH:C537723","NCIT:C126747","SNOMEDCT:702816000","medgen:337496"],"information_content":92.8}
{"id":"MONDO:0010284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Armfield syndrome","equivalent_identifiers":["MONDO:0010284","DOID:0050764","OMIM:300261","orphanet:85276","UMLS:C1846057","UMLS:C4305022","MESH:C564551","SNOMEDCT:719017003","medgen:375800","ICD10:Q87.8"],"information_content":100.0}
{"id":"MONDO:0010285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Abidi type","equivalent_identifiers":["MONDO:0010285","DOID:0060818","OMIM:300262","orphanet:85273","UMLS:C1846056","MESH:C535556","medgen:337376"],"information_content":100.0}
{"id":"MONDO:0010286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Siderius type","equivalent_identifiers":["MONDO:0010286","DOID:0060812","OMIM:300263","orphanet:85287","UMLS:C1846055","MESH:C537333","medgen:337375"],"information_content":100.0}
{"id":"MONDO:0010287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 16","equivalent_identifiers":["MONDO:0010287","DOID:0110769","OMIM:300266","orphanet:100997","UMLS:C1846046","MESH:C536643","SNOMEDCT:783697000","medgen:375796"],"information_content":100.0}
{"id":"MONDO:0010288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenomyodystrophy","equivalent_identifiers":["MONDO:0010288","OMIM:300270","orphanet:977","UMLS:C1846044","MESH:C538051","SNOMEDCT:763311001","medgen:337494","icd11.foundation:46666832"],"information_content":100.0}
{"id":"MONDO:0010289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 72","equivalent_identifiers":["MONDO:0010289","DOID:0112059","OMIM:300271","UMLS:C1846038","MESH:C564547","medgen:375793"],"information_content":100.0}
{"id":"MONDO:0010290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"goiter, multinodular 2","equivalent_identifiers":["MONDO:0010290","OMIM:300273","UMLS:C1846033","MESH:C564546","medgen:337370"],"information_content":100.0}
{"id":"MONDO:0010292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Uruguay Faciocardiomusculoskeletal syndrome","equivalent_identifiers":["MONDO:0010292","DOID:0112148","OMIM:300280","UMLS:C1846010","MESH:C564544","medgen:335320"],"information_content":100.0}
{"id":"MONDO:0010293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia and immune deficiency","equivalent_identifiers":["MONDO:0010293","DOID:0081077","OMIM.PS:300291","orphanet:98813","UMLS:C1846006","MESH:C536181","NCIT:C118844","SNOMEDCT:703525006","medgen:375786"],"information_content":92.8}
{"id":"MONDO:0010294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked severe congenital neutropenia","equivalent_identifiers":["MONDO:0010294","DOID:0112128","OMIM:300299","orphanet:86788","UMLS:C1845987","MESH:C564539","NCIT:C176818","SNOMEDCT:718882006","medgen:335314"],"information_content":100.0}
{"id":"MONDO:0010295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","equivalent_identifiers":["MONDO:0010295","orphanet:69088","UMLS:C1845919","UMLS:C4303737","MESH:C564538","SNOMEDCT:720986005","medgen:929406"],"information_content":100.0}
{"id":"MONDO:0010296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 61","equivalent_identifiers":["MONDO:0010296","DOID:0111999","OMIM:300310","UMLS:C1845903","MESH:C538057","medgen:337462"],"information_content":100.0}
{"id":"MONDO:0010297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FG syndrome 2","equivalent_identifiers":["MONDO:0010297","OMIM:300321","UMLS:C1845902","medgen:337461"],"information_content":100.0}
{"id":"MONDO:0010298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lesch-Nyhan syndrome","equivalent_identifiers":["MONDO:0010298","DOID:1919","OMIM:300322","orphanet:510","UMLS:C0023374","UMLS:C1845892","MESH:C564535","MESH:D007926","MEDDRA:10024245","MEDDRA:10057589","NCIT:C61255","SNOMEDCT:10406007","medgen:9721","icd11.foundation:1886495906","ICD10:E79.1"],"information_content":95.4}
{"id":"MONDO:0010299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoxanthine guanine phosphoribosyltransferase partial deficiency","equivalent_identifiers":["MONDO:0010299","DOID:0112127","OMIM:300323","orphanet:79233","UMLS:C0268117","MESH:C562583","MEDDRA:10057583","MEDDRA:10057588","SNOMEDCT:238007004","medgen:82770"],"information_content":100.0}
{"id":"MONDO:0010300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 53","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010300","DOID:0112047","OMIM:300324","UMLS:C1845889","MESH:C564533","medgen:335296"],"information_content":100.0}
{"id":"MONDO:0010302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ito hypomelanosis","equivalent_identifiers":["MONDO:0010302","DOID:3156","OMIM:300337","UMLS:C0022283","MEDDRA:10075301","MEDDRA:10075302","SNOMEDCT:218358001","SNOMEDCT:48543002","medgen:5920"],"information_content":100.0}
{"id":"MONDO:0010305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"creatine transporter deficiency","equivalent_identifiers":["MONDO:0010305","DOID:0050800","OMIM:300352","orphanet:52503","UMLS:C1845862","MESH:C535598","MEDDRA:10084842","NCIT:C125665","SNOMEDCT:698290008","medgen:337451"],"information_content":100.0}
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{"id":"MONDO:0010307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 73","equivalent_identifiers":["MONDO:0010307","DOID:0112017","OMIM:300355","UMLS:C1845860","MESH:C564528","medgen:335293"],"information_content":100.0}
{"id":"MONDO:0010308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia, X-linked, with or without dyserythropoietic anemia","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010308","OMIM:300367","UMLS:C3550789","NCIT:C136653","medgen:763703"],"information_content":95.4}
{"id":"MONDO:0010310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteopathia striata with cranial sclerosis","equivalent_identifiers":["MONDO:0010310","DOID:0060886","OMIM:300373","orphanet:2780","UMLS:C0432268","MESH:C536053","SNOMEDCT:254129003","medgen:96590"],"information_content":100.0}
{"id":"MONDO:0010311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Becker muscular dystrophy","equivalent_identifiers":["MONDO:0010311","DOID:9883","OMIM:300376","orphanet:98895","UMLS:C0699741","UMLS:C0917713","UMLS:C3490459","MESH:C570377","MEDDRA:10059117","NCIT:C84587","SNOMEDCT:193222002","SNOMEDCT:387732009","medgen:182959","icd11.foundation:690532643"],"information_content":95.4}
{"id":"MONDO:0010313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 63","equivalent_identifiers":["MONDO:0010313","DOID:0112050","OMIM:300387","UMLS:C1845672","MESH:C564522","medgen:337002"],"information_content":100.0}
{"id":"MONDO:0010314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polymicrogyria, bilateral perisylvian, X-linked","equivalent_identifiers":["MONDO:0010314","OMIM:300388","SNOMEDCT:438583008"],"information_content":100.0}
{"id":"MONDO:0010315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-B+ severe combined immunodeficiency due to gamma chain deficiency","equivalent_identifiers":["MONDO:0010315","DOID:0060013","OMIM:300400","orphanet:276","EFO:0005555","UMLS:C1279481","MESH:D053632","MEDDRA:10083916","NCIT:C4682","SNOMEDCT:203592006","medgen:220906"],"information_content":92.8}
{"id":"MONDO:0010316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FG syndrome 3","equivalent_identifiers":["MONDO:0010316","OMIM:300406","UMLS:C1845567","medgen:375687"],"information_content":100.0}
{"id":"MONDO:0010317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked, with or without seizures, ARX-related","equivalent_identifiers":["MONDO:0010317","DOID:0112021","OMIM:300419","UMLS:C0796244","MESH:C563150","medgen:208681"],"information_content":100.0}
{"id":"MONDO:0010318","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FG syndrome 4","equivalent_identifiers":["MONDO:0010318","OMIM:300422","UMLS:C1845546","UMLS:C3275356","medgen:336965"],"information_content":100.0}
{"id":"MONDO:0010319","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Hedera type","equivalent_identifiers":["MONDO:0010319","DOID:0060806","OMIM:300423","orphanet:93952","UMLS:C1845543","MESH:C564516","SNOMEDCT:726727003","medgen:337257"],"information_content":100.0}
{"id":"MONDO:0010320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 23","equivalent_identifiers":["MONDO:0010320","DOID:0110412","OMIM:300424","UMLS:C1419610","medgen:238456"],"information_content":100.0}
{"id":"MONDO:0010321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, X-linked 1","equivalent_identifiers":["MONDO:0010321","OMIM:300425","UMLS:C1845540","medgen:335205"],"information_content":100.0}
{"id":"MONDO:0010322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 2","equivalent_identifiers":["MONDO:0010322","DOID:0112016","OMIM:300428","UMLS:C0796207","MESH:C563135","medgen:162922"],"information_content":100.0}
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{"id":"MONDO:0010324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 81","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010324","DOID:0112033","OMIM:300433","UMLS:C1845531","MESH:C564515","medgen:335203"],"information_content":100.0}
{"id":"MONDO:0010325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Stocco dos Santos type","equivalent_identifiers":["MONDO:0010325","DOID:0112126","OMIM:300434","orphanet:85288","UMLS:C1845530","UMLS:C4305076","MESH:C537495","SNOMEDCT:718910006","medgen:335202"],"information_content":100.0}
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{"id":"MONDO:0010327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HSD10 mitochondrial disease","equivalent_identifiers":["MONDO:0010327","DOID:0060810","OMIM:300438","orphanet:391417","UMLS:C3266731","MESH:C536080","MESH:C564560","SNOMEDCT:791000124107","SNOMEDCT:801000124108","medgen:781653","ICD10:G25.5"],"information_content":90.9}
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{"id":"MONDO:0010338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked distal spinal muscular atrophy type 3","equivalent_identifiers":["MONDO:0010338","DOID:0111196","OMIM:300489","orphanet:139557","UMLS:C1845359","MESH:C564506","SNOMEDCT:766764008","medgen:335168"],"information_content":100.0}
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{"id":"MONDO:0010342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, X-linked 3","equivalent_identifiers":["MONDO:0010342","OMIM:300496","UMLS:C1845336","medgen:335161"],"information_content":100.0}
{"id":"MONDO:0010344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 45","equivalent_identifiers":["MONDO:0010344","DOID:0112028","OMIM:300498","UMLS:C1845333","MESH:C564503","medgen:375633"],"information_content":100.0}
{"id":"MONDO:0010347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 84","equivalent_identifiers":["MONDO:0010347","DOID:0112030","OMIM:300505","UMLS:C1845297","MESH:C564501","medgen:337203"],"information_content":100.0}
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{"id":"MONDO:0010356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrogenic syndrome of inappropriate antidiuresis","equivalent_identifiers":["MONDO:0010356","DOID:0112121","OMIM:300539","orphanet:93606","UMLS:C1845202","MESH:C564491","SNOMEDCT:723440000","medgen:336877","icd11.foundation:808905140"],"information_content":100.0}
{"id":"MONDO:0010358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemic rickets, X-linked recessive","equivalent_identifiers":["MONDO:0010358","DOID:0080353","OMIM:300554","UMLS:C1845168","medgen:335115"],"information_content":100.0}
{"id":"MONDO:0010359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dent disease 2","equivalent_identifiers":["MONDO:0010359","DOID:0081454","OMIM:300555","orphanet:93623","UMLS:C1845167","MESH:C564487","SNOMEDCT:717790004","medgen:336867","icd11.foundation:2053330521"],"information_content":100.0}
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{"id":"MONDO:0010362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease IXd","equivalent_identifiers":["MONDO:0010362","DOID:0111040","OMIM:300559","orphanet:715","UMLS:C1845151","MESH:C564485","SNOMEDCT:819953000","medgen:335112"],"information_content":100.0}
{"id":"MONDO:0010363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 91","equivalent_identifiers":["MONDO:0010363","DOID:0112043","OMIM:300577","UMLS:C1845142","MESH:C564482","medgen:375592"],"information_content":100.0}
{"id":"MONDO:0010364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aldred syndrome","equivalent_identifiers":["MONDO:0010364","OMIM:300578","orphanet:85332","UMLS:C0795873","UMLS:C1845136","MESH:C537046","MESH:C564481","SNOMEDCT:719808002","medgen:336862"],"information_content":100.0}
{"id":"MONDO:0010365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, congenital, with fiber-type disproportion, X-linked","equivalent_identifiers":["MONDO:0010365","DOID:0111226","OMIM:300580","UMLS:C2749128","MESH:C567594","medgen:440714"],"information_content":100.0}
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{"id":"MONDO:0010367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SHOX-related short stature","equivalent_identifiers":["MONDO:0010367","DOID:0112120","OMIM:300582","orphanet:314795","UMLS:C1845118","UMLS:C4706613","MESH:C564479","SNOMEDCT:763868006","medgen:375584"],"information_content":100.0}
{"id":"MONDO:0010369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus 5, congenital, X-linked","equivalent_identifiers":["MONDO:0010369","DOID:0111796","OMIM:300589","UMLS:C1845116","MESH:C564478","medgen:375583"],"information_content":100.0}
{"id":"MONDO:0010370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cornelia de Lange syndrome 2","equivalent_identifiers":["MONDO:0010370","DOID:0080506","OMIM:300590","UMLS:C1802395","NCIT:C75485","SNOMEDCT:55016009","medgen:315658"],"information_content":100.0}
{"id":"MONDO:0010371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aland island eye disease","equivalent_identifiers":["MONDO:0010371","DOID:0050630","OMIM:300600","orphanet:178333","UMLS:C0268505","MESH:C562664","SNOMEDCT:266455006","medgen:120643"],"information_content":100.0}
{"id":"MONDO:0010373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 2B","equivalent_identifiers":["MONDO:0010373","DOID:0080859","OMIM:300604","UMLS:C1845105","MESH:C564476","medgen:337159"],"information_content":100.0}
{"id":"MONDO:0010375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 8","equivalent_identifiers":["MONDO:0010375","DOID:0080215","OMIM:300607","orphanet:163985","UMLS:C1845102","MESH:C564474","medgen:375581"],"information_content":100.0}
{"id":"MONDO:0010378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked hereditary sensory and autonomic neuropathy with hearing loss","equivalent_identifiers":["MONDO:0010378","DOID:0111741","OMIM:300614","orphanet:139583","UMLS:C1845095","UMLS:C4304400","MESH:C564472","NCIT:C180843","SNOMEDCT:719838008","medgen:930069"],"information_content":100.0}
{"id":"MONDO:0010379","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brunner syndrome","equivalent_identifiers":["MONDO:0010379","DOID:0060693","OMIM:300615","orphanet:3057","UMLS:C0796275","MESH:C563156","MEDDRA:10081371","SNOMEDCT:718210003","medgen:208683","ICD10:E70.8"],"information_content":100.0}
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{"id":"MONDO:0010381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tn Syndrome","equivalent_identifiers":["MONDO:0010381","DOID:0080520","OMIM:300622","UMLS:C0272137","MESH:C562719","SNOMEDCT:40387008","medgen:82896"],"information_content":100.0}
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{"id":"MONDO:0010383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fragile X syndrome","equivalent_identifiers":["MONDO:0010383","DOID:14261","OMIM:300624","orphanet:908","UMLS:C0016667","MESH:D005600","MEDDRA:10017324","NCIT:C84717","SNOMEDCT:613003","medgen:8912","icd11.foundation:1524287677","ICD10:Q99.2","ICD9:759.83"],"information_content":89.4}
{"id":"MONDO:0010384","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypospadias 1, X-linked","equivalent_identifiers":["MONDO:0010384","OMIM:300633","UMLS:C2678098","MESH:C567482","medgen:394735"],"information_content":100.0}
{"id":"MONDO:0010385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked lymphoproliferative disease due to XIAP deficiency","equivalent_identifiers":["MONDO:0010385","DOID:0060706","OMIM:300635","orphanet:538934","UMLS:C1845076","MESH:C564469","NCIT:C126295","SNOMEDCT:1162830004","medgen:336848"],"information_content":100.0}
{"id":"MONDO:0010386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 33","equivalent_identifiers":["MONDO:0010386","DOID:0112003","OMIM:300636","orphanet:319612","UMLS:C1845117","UMLS:C1970879","MESH:C536289","medgen:370376"],"information_content":100.0}
{"id":"MONDO:0010388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked","equivalent_identifiers":["MONDO:0010388","OMIM:300643","UMLS:C1845070","MESH:C564467","medgen:337150"],"information_content":100.0}
{"id":"MONDO:0010389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency","equivalent_identifiers":["MONDO:0010389","DOID:0112000","OMIM:300645","orphanet:319623","UMLS:C1970859","MESH:C567068","medgen:370369"],"information_content":100.0}
{"id":"MONDO:0010390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular albinism with late-onset sensorineural deafness","equivalent_identifiers":["MONDO:0010390","OMIM:300650","orphanet:1000","UMLS:C1845069","MESH:C537043","SNOMEDCT:722054007","medgen:337149"],"information_content":100.0}
{"id":"MONDO:0010391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioma serpiginosum, X-linked","equivalent_identifiers":["MONDO:0010391","OMIM:300652","UMLS:C4721404","MESH:C536366","medgen:1648301"],"information_content":100.0}
{"id":"MONDO:0010392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to phosphoglycerate kinase 1 deficiency","equivalent_identifiers":["MONDO:0010392","DOID:0111933","OMIM:300653","orphanet:713","UMLS:C1970848","MESH:C567067","NCIT:C126738","medgen:410166","icd11.foundation:1396572570"],"information_content":100.0}
{"id":"MONDO:0010393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 93","equivalent_identifiers":["MONDO:0010393","DOID:0112045","OMIM:300659","UMLS:C1970841","MESH:C567066","medgen:410164"],"information_content":100.0}
{"id":"MONDO:0010395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phosphoribosylpyrophosphate synthetase superactivity","equivalent_identifiers":["MONDO:0010395","DOID:0111260","OMIM:300661","orphanet:3222","UMLS:C1970827","MESH:C567064","SNOMEDCT:723454008","medgen:370358"],"information_content":92.8}
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{"id":"MONDO:0010398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability 14","equivalent_identifiers":["MONDO:0010398","DOID:0060821","OMIM:300676","UMLS:C1970822","MESH:C567063","medgen:372646"],"information_content":100.0}
{"id":"MONDO:0010399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome Xp21 deletion syndrome","equivalent_identifiers":["MONDO:0010399","DOID:0060427","OMIM:300679","orphanet:261476","UMLS:C4505291","SNOMEDCT:1295529002","SNOMEDCT:297257004","medgen:1373978","ICD10:Q99.8"],"information_content":100.0}
{"id":"MONDO:0010400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked scapuloperoneal muscular dystrophy","equivalent_identifiers":["MONDO:0010400","OMIM:300695","orphanet:431272","UMLS:C2678061","MESH:C567481","medgen:395530"],"information_content":100.0}
{"id":"MONDO:0010401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked myopathy with postural muscle atrophy","equivalent_identifiers":["MONDO:0010401","DOID:0070251","OMIM:300696","orphanet:178461","UMLS:C2678055","SNOMEDCT:773729007","medgen:395525","icd11.foundation:420677690"],"information_content":100.0}
{"id":"MONDO:0010402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability 94","equivalent_identifiers":["MONDO:0010402","DOID:0060823","OMIM:300699","UMLS:C2678051","MESH:C567479","medgen:437111","ICD10:F72"],"information_content":100.0}
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{"id":"MONDO:0010404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked non progressive cerebellar ataxia","equivalent_identifiers":["MONDO:0010404","DOID:0111833","OMIM:300703","orphanet:314978","UMLS:C2678048","UMLS:C4707849","MESH:C567478","SNOMEDCT:766818009","medgen:394718"],"information_content":100.0}
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{"id":"MONDO:0010407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked syndromic, Turner type","equivalent_identifiers":["MONDO:0010407","DOID:0060811","OMIM:309590","UMLS:C0796003","UMLS:C2678046","MESH:C563154","MESH:C567476","SNOMEDCT:721875000","SNOMEDCT:725912001","medgen:394425"],"information_content":100.0}
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{"id":"MONDO:0010409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Shrimpton type","equivalent_identifiers":["MONDO:0010409","DOID:0060813","OMIM:300709","orphanet:85324","UMLS:C2678039","MESH:C567474","medgen:395523"],"information_content":100.0}
{"id":"MONDO:0010412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-craniofacioskeletal syndrome","equivalent_identifiers":["MONDO:0010412","OMIM:300712","orphanet:163979","UMLS:C2678036","MESH:C567471","medgen:394716"],"information_content":100.0}
{"id":"MONDO:0010413","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 95","equivalent_identifiers":["MONDO:0010413","OMIM:300716","UMLS:C2678034","MESH:C567470","medgen:394715"],"information_content":100.0}
{"id":"MONDO:0010414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, reducing body, X-linked, early-onset, severe","equivalent_identifiers":["MONDO:0010414","OMIM:300717","UMLS:C2678027","UMLS:C4225423","MESH:C567469","medgen:906731"],"information_content":100.0}
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{"id":"MONDO:0010416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, cataract, retinitis pigmentosa, and sperm abnormalities","equivalent_identifiers":["MONDO:0010416","OMIM:300719","UMLS:C2678011","MESH:C567467","medgen:395517"],"information_content":100.0}
{"id":"MONDO:0010417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Najm type","equivalent_identifiers":["MONDO:0010417","DOID:0060807","OMIM:300749","orphanet:163937","UMLS:C2677903","MESH:C567466","medgen:437070"],"information_content":100.0}
{"id":"MONDO:0010418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 34","equivalent_identifiers":["MONDO:0010418","DOID:0110785","OMIM:300750","orphanet:171607","UMLS:C2677897","MESH:C567465","SNOMEDCT:763370008","medgen:437069"],"information_content":100.0}
{"id":"MONDO:0010420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked erythropoietic protoporphyria","equivalent_identifiers":["MONDO:0010420","OMIM:300752","orphanet:443197","EFO:0009064","UMLS:C2677889","MESH:C567464","NCIT:C172807","SNOMEDCT:1197360001","medgen:394385"],"information_content":100.0}
{"id":"MONDO:0010421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bruton-type agammaglobulinemia","equivalent_identifiers":["MONDO:0010421","DOID:14179","OMIM:300755","orphanet:47","UMLS:C0221026","UMLS:C0241932","MESH:C537409","MESH:C562478","MEDDRA:10049485","MEDDRA:10060360","MEDDRA:10086890","MEDDRA:10086891","NCIT:C3822","SNOMEDCT:65880007","medgen:65123"],"information_content":100.0}
{"id":"MONDO:0010423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypospadias 2, X-linked","equivalent_identifiers":["MONDO:0010423","OMIM:300758","UMLS:C2677879","MESH:C567462","medgen:437064"],"information_content":100.0}
{"id":"MONDO:0010424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"surfactant metabolism dysfunction, pulmonary, 4","equivalent_identifiers":["MONDO:0010424","OMIM:300770","UMLS:C2677877","MESH:C567461","medgen:393858"],"information_content":100.0}
{"id":"MONDO:0010425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lisch epithelial corneal dystrophy","equivalent_identifiers":["MONDO:0010425","DOID:0060450","OMIM:620763","orphanet:98955","UMLS:C2749050","MESH:C567588","SNOMEDCT:724175002","medgen:411737","icd11.foundation:1571503165"],"information_content":100.0}
{"id":"MONDO:0010426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked endothelial corneal dystrophy","equivalent_identifiers":["MONDO:0010426","DOID:0060446","OMIM:300779","orphanet:293621","UMLS:C2749049","MESH:C567587","SNOMEDCT:718579008","medgen:413518","icd11.foundation:1842066261"],"information_content":100.0}
{"id":"MONDO:0010427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Raymond type","equivalent_identifiers":["MONDO:0010427","DOID:0060824","OMIM:300799","UMLS:C3275406","medgen:477037"],"information_content":100.0}
{"id":"MONDO:0010428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome Xp11.23-p11.22 duplication syndrome","equivalent_identifiers":["MONDO:0010428","DOID:0060461","OMIM:300801","orphanet:217377","UMLS:C2749022","UMLS:C4303068","MESH:C567585","SNOMEDCT:721881008","medgen:440690"],"information_content":100.0}
{"id":"MONDO:0010429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 96","equivalent_identifiers":["MONDO:0010429","DOID:0112035","OMIM:300802","UMLS:C3275408","medgen:477039"],"information_content":100.0}
{"id":"MONDO:0010430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 97","equivalent_identifiers":["MONDO:0010430","DOID:0112046","OMIM:300803","UMLS:C2749020","MESH:C567583","medgen:440689"],"information_content":100.0}
{"id":"MONDO:0010431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 10","equivalent_identifiers":["MONDO:0010431","DOID:0110981","OMIM:300804","UMLS:C2749019","MESH:C567582","medgen:440688"],"information_content":100.0}
{"id":"MONDO:0010432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia, X-linked, due to factor 9 defect","equivalent_identifiers":["MONDO:0010432","DOID:0111899","OMIM:300807","UMLS:C2749016","UMLS:C3275410","MESH:C567581","medgen:411730"],"information_content":100.0}
{"id":"MONDO:0010434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synovial sarcoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0010434","DOID:5485","OMIM:300813","orphanet:3273","EFO:0001376","UMLS:C0039101","MESH:D013584","MEDDRA:10042863","MEDDRA:10042866","MEDDRA:10069062","NCIT:C3400","SNOMEDCT:302851001","SNOMEDCT:63211008","medgen:21050","HP:0012570"],"information_content":75.7}
{"id":"MONDO:0010435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus 6, congenital, X-linked","equivalent_identifiers":["MONDO:0010435","DOID:0111795","OMIM:300814","UMLS:C3151752","medgen:463102"],"information_content":100.0}
{"id":"MONDO:0010436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome Xq28 duplication syndrome","equivalent_identifiers":["MONDO:0010436","OMIM:300815","UMLS:C2749007","MESH:C567580","medgen:411727"],"information_content":95.4}
{"id":"MONDO:0010437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe X-linked mitochondrial encephalomyopathy","equivalent_identifiers":["MONDO:0010437","DOID:0111502","OMIM:300816","orphanet:238329","UMLS:C3151753","UMLS:C4302745","SNOMEDCT:722212004","medgen:463103"],"information_content":100.0}
{"id":"MONDO:0010438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal nocturnal hemoglobinuria 1","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0010438","OMIM:300818","UMLS:C3806670","medgen:813000"],"information_content":100.0}
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{"id":"MONDO:0010503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartter disease type 5","equivalent_identifiers":["MONDO:0010503","DOID:0110147","OMIM:300971","orphanet:570371","UMLS:C4310820","medgen:934787"],"information_content":100.0}
{"id":"MONDO:0010504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 47","equivalent_identifiers":["MONDO:0010504","DOID:0112002","OMIM:300972","UMLS:C4310819","medgen:934786"],"information_content":100.0}
{"id":"MONDO:0010505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-balding-patella luxation-acromicria syndrome","equivalent_identifiers":["MONDO:0010505","OMIM:300977","orphanet:3041","UMLS:C1866985","MESH:C536638","SNOMEDCT:722002002","medgen:401129"],"information_content":100.0}
{"id":"MONDO:0010506","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 61","equivalent_identifiers":["MONDO:0010506","DOID:0112042","OMIM:300978","UMLS:C4283894","medgen:924419"],"information_content":100.0}
{"id":"MONDO:0010507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Xq25 microduplication syndrome","equivalent_identifiers":["MONDO:0010507","OMIM:300979","orphanet:521258","UMLS:C4311049","UMLS:C5447842","UMLS:C5677024","NCIT:C177544","SNOMEDCT:1229872004","medgen:935016"],"information_content":100.0}
{"id":"MONDO:0010508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 103","equivalent_identifiers":["MONDO:0010508","DOID:0112020","OMIM:300982","UMLS:C4310818","medgen:934785"],"information_content":100.0}
{"id":"MONDO:0010509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 104","equivalent_identifiers":["MONDO:0010509","DOID:0112018","OMIM:300983","UMLS:C4310817","medgen:934784"],"information_content":100.0}
{"id":"MONDO:0010510","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 105","equivalent_identifiers":["MONDO:0010510","DOID:0112036","OMIM:300984","UMLS:C4310816","medgen:934783"],"information_content":100.0}
{"id":"MONDO:0010511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vas deferens, congenital bilateral aplasia of, X-linked","equivalent_identifiers":["MONDO:0010511","DOID:0111863","OMIM:300985","UMLS:C4310815","medgen:934782"],"information_content":100.0}
{"id":"MONDO:0010512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked, syndromic, Bain type","equivalent_identifiers":["MONDO:0010512","DOID:0070538","OMIM:300986","orphanet:662198","UMLS:C4310814","NCIT:C183311","medgen:934781"],"information_content":100.0}
{"id":"MONDO:0010514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to moesin deficiency","equivalent_identifiers":["MONDO:0010514","DOID:0112001","OMIM:300988","orphanet:504530","UMLS:C5568123","SNOMEDCT:1179285006","medgen:1799546"],"information_content":100.0}
{"id":"MONDO:0010515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meester-Loeys syndrome","equivalent_identifiers":["MONDO:0010515","DOID:0111861","OMIM:300989","UMLS:C4310811","NCIT:C187989","medgen:934778"],"information_content":100.0}
{"id":"MONDO:0010516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis","equivalent_identifiers":["MONDO:0010516","DOID:0111859","OMIM:300990","orphanet:688581","UMLS:C4310810","medgen:934777"],"information_content":100.0}
{"id":"MONDO:0010517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary dyskinesia, primary, 36, X-linked","equivalent_identifiers":["MONDO:0010517","DOID:0111850","OMIM:300991","UMLS:C4478372","medgen:1393107"],"information_content":100.0}
{"id":"MONDO:0010519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ATR-X syndrome","equivalent_identifiers":["MONDO:0010519","DOID:0110030","OMIM:301040","orphanet:847","UMLS:C1845055","MESH:C538258","MEDDRA:10083889","MEDDRA:10083890","MEDDRA:10083895","NCIT:C118631","SNOMEDCT:715342005","medgen:337145"],"information_content":100.0}
{"id":"MONDO:0010520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked Alport syndrome","equivalent_identifiers":["MONDO:0010520","DOID:0110034","OMIM:301050","orphanet:88917","UMLS:C1567742","UMLS:C4746986","SNOMEDCT:717768004","medgen:1648433"],"information_content":100.0}
{"id":"MONDO:0010521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 1E","equivalent_identifiers":["MONDO:0010521","DOID:0110058","OMIM:301200","UMLS:C1845052","UMLS:C1845053","MESH:C538243","MESH:C564463","medgen:336847"],"information_content":100.0}
{"id":"MONDO:0010522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2","equivalent_identifiers":["MONDO:0010522","DOID:0110059","OMIM:301201","UMLS:C1845051","medgen:336845"],"information_content":100.0}
{"id":"MONDO:0010523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked reticulate pigmentary disorder","equivalent_identifiers":["MONDO:0010523","DOID:0111834","OMIM:301220","orphanet:85453","UMLS:C1845050","MESH:C564461","SNOMEDCT:717224002","medgen:336844"],"information_content":100.0}
{"id":"MONDO:0010524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked sideroblastic anemia with ataxia","equivalent_identifiers":["MONDO:0010524","DOID:0050554","OMIM:301310","orphanet:2802","UMLS:C1845028","MESH:C536358","SNOMEDCT:719816006","medgen:335078"],"information_content":100.0}
{"id":"MONDO:0010526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fabry disease","equivalent_identifiers":["MONDO:0010526","DOID:14499","OMIM:301500","orphanet:324","UMLS:C0002986","UMLS:C1970820","UMLS:C5960004","MESH:C567062","MESH:D000795","MEDDRA:10002458","MEDDRA:10016016","MEDDRA:10071118","NCIT:C84701","SNOMEDCT:124464003","SNOMEDCT:16652001","medgen:8083","icd11.foundation:66996647","ICD10:E75.21","HP:0001071"],"information_content":100.0}
{"id":"MONDO:0010528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anosmia","equivalent_identifiers":["MONDO:0010528","UMLS:C0003126","UMLS:C0553757","MESH:D000086582","MESH:D000857","MEDDRA:10002653","MEDDRA:10024877","MEDDRA:10041217","NCIT:C116369","SNOMEDCT:275462005","SNOMEDCT:44169009","medgen:1950","icd11.foundation:1599308422","HP:0000458"],"information_content":88.2}
{"id":"MONDO:0010529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked spinocerebellar ataxia type 3","equivalent_identifiers":["MONDO:0010529","DOID:0111831","OMIM:301790","orphanet:85297","UMLS:C1844936","MESH:C537315","SNOMEDCT:719817002","medgen:337124","icd11.foundation:261426817"],"information_content":100.0}
{"id":"MONDO:0010531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"contractures-ectodermal dysplasia-cleft lip/palate syndrome","equivalent_identifiers":["MONDO:0010531","OMIM:301815","orphanet:1484","UMLS:C1844935","UMLS:C2931745","MESH:C535465","MESH:C538135","SNOMEDCT:720746006","medgen:375546"],"information_content":100.0}
{"id":"MONDO:0010532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile-onset X-linked spinal muscular atrophy","equivalent_identifiers":["MONDO:0010532","DOID:0111827","OMIM:301830","orphanet:1145","UMLS:C1844934","MESH:C535380","SNOMEDCT:719836007","medgen:337123"],"information_content":100.0}
{"id":"MONDO:0010533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Arts syndrome","equivalent_identifiers":["MONDO:0010533","DOID:0050647","OMIM:301835","orphanet:1187","UMLS:C0796028","MESH:C535388","SNOMEDCT:702441001","medgen:163205"],"information_content":95.4}
{"id":"MONDO:0010534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked spinocerebellar ataxia type 4","equivalent_identifiers":["MONDO:0010534","DOID:0111832","OMIM:301840","orphanet:85292","UMLS:C1844933","MESH:C537316","SNOMEDCT:719818007","medgen:337122","icd11.foundation:1033689736"],"information_content":100.0}
{"id":"MONDO:0010535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bazex-Dupre-Christol syndrome","equivalent_identifiers":["MONDO:0010535","OMIM:301845","orphanet:113","orphanet:166113","UMLS:C0346104","UMLS:C0406355","MESH:C537663","MEDDRA:10065247","SNOMEDCT:238640007","SNOMEDCT:254820002","medgen:87539"],"information_content":95.4}
{"id":"MONDO:0010537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Borjeson-Forssman-Lehmann syndrome","equivalent_identifiers":["MONDO:0010537","DOID:0050681","OMIM:301900","orphanet:127","UMLS:C0265339","MESH:C536575","NCIT:C157122","SNOMEDCT:21634003","medgen:78557"],"information_content":100.0}
{"id":"MONDO:0010539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked mandibulofacial dysostosis","equivalent_identifiers":["MONDO:0010539","OMIM:301950","orphanet:1131","UMLS:C1844918","MESH:C537102","SNOMEDCT:719813003","medgen:375543","icd11.foundation:135565112"],"information_content":100.0}
{"id":"MONDO:0010540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bullous dystrophy, macular type","equivalent_identifiers":["MONDO:0010540","OMIM:302000","orphanet:1867","UMLS:C0795974","MESH:C563065","medgen:167089"],"information_content":100.0}
{"id":"MONDO:0010541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked calvarial hyperostosis","equivalent_identifiers":["MONDO:0010541","OMIM:302030","orphanet:391327","UMLS:C1863351","UMLS:C4280519","UMLS:C4280520","UMLS:C5190611","MESH:C537963","SNOMEDCT:782786001","medgen:1674665","HP:0004490"],"information_content":100.0}
{"id":"MONDO:0010542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 3B","equivalent_identifiers":["MONDO:0010542","DOID:0110461","OMIM:302045","UMLS:C3668940","MESH:C580047","SNOMEDCT:702424003","medgen:777148"],"information_content":100.0}
{"id":"MONDO:0010543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Barth syndrome","equivalent_identifiers":["MONDO:0010543","DOID:0050476","OMIM:302060","orphanet:111","UMLS:C0574083","MESH:D056889","MEDDRA:10078537","NCIT:C84585","SNOMEDCT:297231002","medgen:107893","icd11.foundation:452199926","ICD10:E78.71"],"information_content":100.0}
{"id":"MONDO:0010544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 40","equivalent_identifiers":["MONDO:0010544","DOID:0110272","OMIM:302200","UMLS:C2930878","UMLS:C4049004","UMLS:C4049005","MESH:C535338","medgen:886621"],"information_content":100.0}
{"id":"MONDO:0010545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nance-Horan syndrome","equivalent_identifiers":["MONDO:0010545","DOID:0060599","OMIM:302350","orphanet:627","UMLS:C0796085","MESH:C538336","SNOMEDCT:445257004","medgen:208665","icd11.foundation:938299000"],"information_content":100.0}
{"id":"MONDO:0010546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central incisors, absence of","equivalent_identifiers":["MONDO:0010546","OMIM:302400","UMLS:C1844886","medgen:337110"],"information_content":100.0}
{"id":"MONDO:0010547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked progressive cerebellar ataxia","equivalent_identifiers":["MONDO:0010547","DOID:0111829","OMIM:302500","orphanet:1175","UMLS:C0796205","MESH:C563134","medgen:163229"],"information_content":100.0}
{"id":"MONDO:0010548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, X-linked 2","equivalent_identifiers":["MONDO:0010548","DOID:0111830","OMIM:302600","UMLS:C1844885","MESH:C537314","medgen:375535"],"information_content":100.0}
{"id":"MONDO:0010549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease X-linked dominant 1","equivalent_identifiers":["MONDO:0010549","DOID:0110209","OMIM:302800","orphanet:101075","UMLS:C0393808","MESH:C535919","NCIT:C129068","SNOMEDCT:763455008","medgen:98290"],"information_content":100.0}
{"id":"MONDO:0010550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease X-linked recessive 2","equivalent_identifiers":["MONDO:0010550","DOID:0110208","OMIM:302801","orphanet:101076","UMLS:C1844873","MESH:C535302","SNOMEDCT:763457000","medgen:336803"],"information_content":100.0}
{"id":"MONDO:0010551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease X-linked recessive 3","equivalent_identifiers":["MONDO:0010551","DOID:0110211","OMIM:302802","orphanet:101077","UMLS:C1844865","MESH:C535303","SNOMEDCT:763458005","medgen:375530"],"information_content":100.0}
{"id":"MONDO:0010552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010552","OMIM:302803","UMLS:C1844864","MESH:C538077","medgen:337105"],"information_content":100.0}
{"id":"MONDO:0010554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abruzzo-Erickson syndrome","equivalent_identifiers":["MONDO:0010554","DOID:0111826","OMIM:302905","orphanet:921","UMLS:C1844862","MESH:C535559","SNOMEDCT:718574003","medgen:375529"],"information_content":100.0}
{"id":"MONDO:0010555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked chondrodysplasia punctata 1","equivalent_identifiers":["MONDO:0010555","OMIM:302950","orphanet:79345","UMLS:C3669395","MESH:C580533","medgen:777171"],"information_content":100.0}
{"id":"MONDO:0010557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroideremia","equivalent_identifiers":["MONDO:0010557","DOID:9821","OMIM:303100","orphanet:180","UMLS:C0008525","MESH:D015794","MEDDRA:10008791","MEDDRA:10060361","NCIT:C34469","SNOMEDCT:75241009","medgen:944","icd11.foundation:217923263","ICD10:H31.21","ICD9:363.55","HP:0001139"],"information_content":92.8}
{"id":"MONDO:0010558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ayazi syndrome","equivalent_identifiers":["MONDO:0010558","OMIM:303110","orphanet:1435","UMLS:C1844836","UMLS:C3551019","MESH:C537793","SNOMEDCT:717761005","medgen:763933"],"information_content":100.0}
{"id":"MONDO:0010559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MASA syndrome","equivalent_identifiers":["MONDO:0010559","DOID:0060246","OMIM:303350","orphanet:2466","UMLS:C0795953","MESH:C536029","NCIT:C129930","SNOMEDCT:716996008","SNOMEDCT:838441009","medgen:162894","icd11.foundation:1973644723"],"information_content":100.0}
{"id":"MONDO:0010560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft palate with or without ankyloglossia, X-linked","equivalent_identifiers":["MONDO:0010560","DOID:0060613","OMIM:303400","orphanet:324601","UMLS:C1844830","UMLS:C4707825","MESH:C536426","SNOMEDCT:766761000","medgen:375520"],"information_content":100.0}
{"id":"MONDO:0010561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coffin-Lowry syndrome","equivalent_identifiers":["MONDO:0010561","DOID:3783","OMIM:303600","orphanet:192","UMLS:C0265252","UMLS:C0795900","MESH:C536435","MESH:D038921","MEDDRA:10081806","NCIT:C84643","SNOMEDCT:15182000","medgen:75556","icd11.foundation:380089065"],"information_content":100.0}
{"id":"MONDO:0010562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colonic atresia","equivalent_identifiers":["MONDO:0010562","OMIM:303650","orphanet:1198","UMLS:C0266190","MESH:C562562","NCIT:C101024","SNOMEDCT:37054000","medgen:75605","HP:0010448"],"information_content":95.4}
{"id":"MONDO:0010563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blue cone monochromacy","equivalent_identifiers":["MONDO:0010563","DOID:0050679","OMIM:303700","orphanet:16","UMLS:C0339537","MESH:C536238","SNOMEDCT:24704003","SNOMEDCT:789676005","medgen:87386","HP:0007939"],"information_content":100.0}
{"id":"MONDO:0010564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"red-green color blindness","equivalent_identifiers":["MONDO:0010564","DOID:13909","OMIM:303800","EFO:0005581","UMLS:C0155016","UMLS:C1970168","MEDDRA:10012551","MEDDRA:10065936","SNOMEDCT:246674000","SNOMEDCT:77479002","medgen:102324","ICD9:368.52","HP:0000642"],"information_content":89.4}
{"id":"MONDO:0010565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Protanomaly","equivalent_identifiers":["MONDO:0010565","DOID:13910","OMIM:303900","EFO:0005580","UMLS:C0155015","UMLS:C3887980","MEDDRA:10036986","SNOMEDCT:51445007","medgen:56350","ICD9:368.51","HP:0200018"],"information_content":100.0}
{"id":"MONDO:0010566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked cone-rod dystrophy 1","equivalent_identifiers":["MONDO:0010566","DOID:0111008","OMIM:304020","UMLS:C1844776","MESH:C564438","medgen:336777"],"information_content":100.0}
{"id":"MONDO:0010568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi syndrome","equivalent_identifiers":["MONDO:0010568","DOID:8461","OMIM:304050","orphanet:50","UMLS:C0175713","MESH:D058540","MEDDRA:10054935","NCIT:C35256","SNOMEDCT:80651009","medgen:61236","icd11.foundation:2057245946"],"information_content":100.0}
{"id":"MONDO:0010569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked complicated corpus callosum dysgenesis","equivalent_identifiers":["MONDO:0010569","OMIM:304100","orphanet:1497","UMLS:C1839909","MESH:C564115","SNOMEDCT:1010630006","medgen:374339","icd11.foundation:1765391162"],"information_content":100.0}
{"id":"MONDO:0010570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofrontonasal syndrome","equivalent_identifiers":["MONDO:0010570","DOID:14737","OMIM:304110","orphanet:1520","UMLS:C0220767","MESH:C536456","SNOMEDCT:715421009","medgen:65095"],"information_content":100.0}
{"id":"MONDO:0010571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otopalatodigital syndrome type 2","equivalent_identifiers":["MONDO:0010571","DOID:0111784","OMIM:304120","orphanet:90652","UMLS:C1844696","MESH:C538089","MEDDRA:10084420","SNOMEDCT:42432003","medgen:337064","icd11.foundation:1897308206"],"information_content":100.0}
{"id":"MONDO:0010572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"occipital horn syndrome","equivalent_identifiers":["MONDO:0010572","DOID:0111272","OMIM:304150","orphanet:198","UMLS:C0268353","MESH:C537860","SNOMEDCT:59399004","medgen:82793"],"information_content":100.0}
{"id":"MONDO:0010574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability 5","equivalent_identifiers":["MONDO:0010574","DOID:0060800","OMIM:304340","orphanet:1568","orphanet:85329","UMLS:C0796254","UMLS:C1845078","MESH:C535773","MESH:C564470","NCIT:C124839","SNOMEDCT:719139003","medgen:162924"],"information_content":100.0}
{"id":"MONDO:0010575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-hypogonadism syndrome","equivalent_identifiers":["MONDO:0010575","OMIM:304350","orphanet:90646","UMLS:C1844680","MESH:C564435","SNOMEDCT:718714006","medgen:335003"],"information_content":100.0}
{"id":"MONDO:0010576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked mixed hearing loss with perilymphatic gusher","equivalent_identifiers":["MONDO:0010576","DOID:0111737","OMIM:304400","UMLS:C1844678","MESH:C536424","medgen:336750"],"information_content":100.0}
{"id":"MONDO:0010577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, X-linked 1","equivalent_identifiers":["MONDO:0010577","DOID:0111739","OMIM:304500","UMLS:C1844677","MESH:C564433","medgen:336749"],"information_content":100.0}
{"id":"MONDO:0010578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jensen syndrome","equivalent_identifiers":["MONDO:0010578","DOID:0050757","OMIM:304700","orphanet:52368","UMLS:C0796074","UMLS:C1839564","MESH:C535808","MESH:C537568","SNOMEDCT:702423009","medgen:162903"],"information_content":100.0}
{"id":"MONDO:0010579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked corneal dermoid","equivalent_identifiers":["MONDO:0010579","OMIM:304730","orphanet:1661","UMLS:C1844671","MESH:C535376","SNOMEDCT:715426004","medgen:375481","icd11.foundation:118076382"],"information_content":100.0}
{"id":"MONDO:0010580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome","equivalent_identifiers":["MONDO:0010580","DOID:0090110","OMIM:304790","orphanet:37042","UMLS:C0342288","UMLS:C1844663","MESH:C580192","MEDDRA:10080631","MEDDRA:10080636","NCIT:C131009","SNOMEDCT:237618001","SNOMEDCT:724276006","medgen:83339","ICD10:E31.0"],"information_content":100.0}
{"id":"MONDO:0010581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes insipidus, nephrogenic, X-linked","equivalent_identifiers":["MONDO:0010581","DOID:0081060","OMIM:304800","UMLS:C1563705","medgen:288785"],"information_content":100.0}
{"id":"MONDO:0010585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked hypohidrotic ectodermal dysplasia","equivalent_identifiers":["MONDO:0010585","DOID:0111664","OMIM:305100","orphanet:181","UMLS:C0162359","MESH:D053358","MEDDRA:10072592","SNOMEDCT:239007005","medgen:57890","icd11.foundation:941793098","HP:0007607"],"information_content":100.0}
{"id":"MONDO:0010586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked Ehlers-Danlos syndrome","equivalent_identifiers":["MONDO:0010586","orphanet:75497","UMLS:C0268341","MESH:C536197","NCIT:C141423","SNOMEDCT:67202007","medgen:75671"],"information_content":100.0}
{"id":"MONDO:0010588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exudative vitreoretinopathy 2, X-linked","equivalent_identifiers":["MONDO:0010588","DOID:0111413","OMIM:305390","UMLS:C1844579","MESH:C564428","medgen:337030"],"information_content":100.0}
{"id":"MONDO:0010589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aarskog-Scott syndrome, X-linked","equivalent_identifiers":["MONDO:0010589","DOID:6683","OMIM:305400","UMLS:C0175701","UMLS:C1844569","UMLS:C3275558","MESH:C535331","MESH:C564427","MEDDRA:10067148","MEDDRA:10083884","NCIT:C129720","SNOMEDCT:14921002","medgen:61234"],"information_content":100.0}
{"id":"MONDO:0010590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FG syndrome 1","equivalent_identifiers":["MONDO:0010590","OMIM:305450","orphanet:93932","UMLS:C5399762","NCIT:C171270","SNOMEDCT:1237179007","medgen:1768809"],"information_content":100.0}
{"id":"MONDO:0010591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fingerprint body myopathy","equivalent_identifiers":["MONDO:0010591","OMIM:305550","orphanet:97232","UMLS:C1844560","MESH:C564425","medgen:337026","icd11.foundation:1251733531"],"information_content":100.0}
{"id":"MONDO:0010592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal dermal hypoplasia","equivalent_identifiers":["MONDO:0010592","DOID:2120","OMIM:305600","orphanet:2092","UMLS:C0016395","MESH:D005489","NCIT:C84715","SNOMEDCT:205573006","medgen:42055","icd11.foundation:683166625"],"information_content":100.0}
{"id":"MONDO:0010596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"membranoproliferative glomerulonephritis, X-linked","equivalent_identifiers":["MONDO:0010596","OMIM:305800","UMLS:C1844501","MESH:C564423","medgen:336706"],"information_content":100.0}
{"id":"MONDO:0010598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease IXa1","equivalent_identifiers":["MONDO:0010598","DOID:0111042","DOID:2751","OMIM:306000","UMLS:C0017927","UMLS:C1844412","UMLS:C3694531","MESH:C564421","MESH:D006015","MEDDRA:10053242","MEDDRA:10053253","MEDDRA:10053256","SNOMEDCT:297255007","SNOMEDCT:41527003","medgen:854172"],"information_content":100.0}
{"id":"MONDO:0010599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomas, congenital cerebral","equivalent_identifiers":["MONDO:0010599","OMIM:306300","UMLS:C1844406","MESH:C537294","medgen:336683"],"information_content":100.0}
{"id":"MONDO:0010600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous disease, chronic, X-linked","equivalent_identifiers":["MONDO:0010600","DOID:0070195","OMIM:306400","UMLS:C1841825","UMLS:C1844376","MESH:C564210","NCIT:C154315","medgen:336165"],"information_content":100.0}
{"id":"MONDO:0010602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemophilia A","equivalent_identifiers":["MONDO:0010602","DOID:12134","OMIM:134500","OMIM:306700","orphanet:98878","UMLS:C0019069","UMLS:C3494187","UMLS:C4025649","MESH:D006467","MEDDRA:10010468","MEDDRA:10016080","MEDDRA:10018937","MEDDRA:10018938","MEDDRA:10060612","MEDDRA:10060613","NCIT:C27146","SNOMEDCT:234440005","SNOMEDCT:28293008","medgen:5501","icd11.foundation:337607970","ICD10:D66","ICD9:286.0","HP:0003125"],"information_content":84.8}
{"id":"MONDO:0010604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemophilia B","equivalent_identifiers":["MONDO:0010604","DOID:12259","OMIM:306900","orphanet:98879","UMLS:C0008533","MESH:D002836","MEDDRA:10008793","MEDDRA:10010467","MEDDRA:10016077","MEDDRA:10018939","MEDDRA:10060614","MEDDRA:10082786","MEDDRA:10082788","NCIT:C26721","SNOMEDCT:41788008","SNOMEDCT:767712006","medgen:945","icd11.foundation:1901375668","ICD10:D67","ICD9:286.1"],"information_content":89.4}
{"id":"MONDO:0010605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemopoietic proliferation","equivalent_identifiers":["MONDO:0010605","OMIM:306930","UMLS:C1844026","medgen:336101"],"information_content":100.0}
{"id":"MONDO:0010606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hernia, anterior diaphragmatic","equivalent_identifiers":["MONDO:0010606","OMIM:306950","UMLS:C1844025","MESH:C564413","medgen:334881"],"information_content":100.0}
{"id":"MONDO:0010607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterotaxy, visceral, 1, X-linked","equivalent_identifiers":["MONDO:0010607","DOID:0051016","OMIM:306955","EFO:0009136","UMLS:C1844020","MESH:C538116","medgen:336609"],"information_content":100.0}
{"id":"MONDO:0010608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hhhh syndrome","equivalent_identifiers":["MONDO:0010608","OMIM:306960","UMLS:C1844019","MESH:C564411","medgen:336099"],"information_content":100.0}
{"id":"MONDO:0010610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly-hypokinesia-congenital contractures syndrome","equivalent_identifiers":["MONDO:0010610","OMIM:306990","orphanet:2570","UMLS:C1844016","UMLS:C4274798","MESH:C564409","SNOMEDCT:716169009","medgen:336097"],"information_content":100.0}
{"id":"MONDO:0010611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked hydrocephalus with stenosis of the aqueduct of Sylvius","equivalent_identifiers":["MONDO:0010611","OMIM:307000","orphanet:2182","UMLS:C0265216","MESH:C536078","SNOMEDCT:71779008","medgen:75552","icd11.foundation:1284135636"],"information_content":100.0}
{"id":"MONDO:0010612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrocephaly-cerebellar agenesis syndrome","equivalent_identifiers":["MONDO:0010612","OMIM:307010","orphanet:1397","UMLS:C1844005","MESH:C564407","medgen:375335"],"information_content":100.0}
{"id":"MONDO:0010613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inborn glycerol kinase deficiency","equivalent_identifiers":["MONDO:0010613","DOID:0060363","OMIM:307030","orphanet:308993","UMLS:C0268418","UMLS:C4477039","MESH:C000721294","NCIT:C124845","SNOMEDCT:124322002","medgen:82803","HP:0040302"],"information_content":88.2}
{"id":"MONDO:0010614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked congenital generalized hypertrichosis","equivalent_identifiers":["MONDO:0010614","OMIM:307150","orphanet:79495","UMLS:C1855900","UMLS:C5574955","UMLS:C5887323","MESH:C538388","SNOMEDCT:1010628009","SNOMEDCT:838368005","medgen:1856186","HP:0004540"],"information_content":100.0}
{"id":"MONDO:0010615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated growth hormone deficiency type III","equivalent_identifiers":["MONDO:0010615","DOID:0060875","OMIM:307200","orphanet:231692","UMLS:C0472813","MESH:C537149","SNOMEDCT:234533006","medgen:141630"],"information_content":95.4}
{"id":"MONDO:0010617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome","equivalent_identifiers":["MONDO:0010617","OMIM:307500","orphanet:2234","UMLS:C1843994","UMLS:C2931285","MESH:C536679","MESH:C564406","SNOMEDCT:722459008","medgen:334557"],"information_content":100.0}
{"id":"MONDO:0010618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated hypoparathyroidism due to agenesis of parathyroid gland","equivalent_identifiers":["MONDO:0010618","DOID:0111388","OMIM:307700","orphanet:2239","UMLS:C0342344","UMLS:C1321907","MESH:C562782","MESH:C563238","NCIT:C131079","SNOMEDCT:237655001","SNOMEDCT:73291005","medgen:87437","icd11.foundation:1282942432","HP:0008211"],"information_content":100.0}
{"id":"MONDO:0010619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked dominant hypophosphatemic rickets","equivalent_identifiers":["MONDO:0010619","DOID:0050445","OMIM:307800","orphanet:89936","UMLS:C0733682","UMLS:C2363065","UMLS:C2363067","UMLS:C3536984","MEDDRA:10039120","MEDDRA:10039121","MEDDRA:10047578","NCIT:C85234","SNOMEDCT:82236004","medgen:196551"],"information_content":100.0}
{"id":"MONDO:0010620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypouricemia, familial renal, due to tubular hypersecretion","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010620","OMIM:307830","UMLS:C1843972","MESH:C564405","medgen:334869"],"information_content":100.0}
{"id":"MONDO:0010621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CHILD syndrome","equivalent_identifiers":["MONDO:0010621","DOID:0111822","OMIM:308050","orphanet:139","UMLS:C0265267","MESH:C562515","MEDDRA:10081963","MEDDRA:10081966","SNOMEDCT:17608003","medgen:82697"],"information_content":100.0}
{"id":"MONDO:0010622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recessive X-linked ichthyosis","equivalent_identifiers":["MONDO:0010622","DOID:1700","OMIM:308100","orphanet:461","EFO:0009080","UMLS:C0079588","UMLS:C2677713","UMLS:C2717836","UMLS:C2720163","MESH:C567443","MESH:D016114","MEDDRA:10048063","NCIT:C84779","SNOMEDCT:3642008","SNOMEDCT:3944006","SNOMEDCT:72523005","medgen:86937","icd11.foundation:1466487054","ICD10:Q80.1"],"information_content":95.4}
{"id":"MONDO:0010625","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein","equivalent_identifiers":["MONDO:0010625","OMIM:308220","UMLS:C1839982","MESH:C564120","medgen:326624"],"information_content":100.0}
{"id":"MONDO:0010626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgM syndrome type 1","equivalent_identifiers":["MONDO:0010626","DOID:0060022","DOID:6620","OMIM:308230","orphanet:101088","UMLS:C0398689","UMLS:C2348037","MESH:D053307","NCIT:C158531","NCIT:C61244","SNOMEDCT:403835002","medgen:96019"],"information_content":100.0}
{"id":"MONDO:0010629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"impacted teeth, multiple","equivalent_identifiers":["MONDO:0010629","OMIM:308280","UMLS:C1839965","UMLS:C4280593","medgen:327004","HP:0001571"],"information_content":100.0}
{"id":"MONDO:0010631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"incontinentia pigmenti","equivalent_identifiers":["MONDO:0010631","DOID:12305","OMIM:308300","orphanet:464","UMLS:C0021171","UMLS:C2930820","MESH:C531716","MESH:D007184","MEDDRA:10077624","MEDDRA:10077626","NCIT:C84787","SNOMEDCT:367520004","medgen:7049","icd11.foundation:1542530268","ICD10:Q82.3"],"information_content":100.0}
{"id":"MONDO:0010632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 1","equivalent_identifiers":["MONDO:0010632","DOID:0080468","OMIM:308350","UMLS:C3463992","NCIT:C179866","medgen:483052"],"information_content":100.0}
{"id":"MONDO:0010634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"jaundice, familial obstructive, of infancy","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010634","OMIM:308600","UMLS:C1839927","MESH:C564118","medgen:326992"],"information_content":95.4}
{"id":"MONDO:0010635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 1 with or without anosmia","equivalent_identifiers":["MONDO:0010635","DOID:0090094","OMIM:308700","UMLS:C1563719","NCIT:C75480","medgen:295872"],"information_content":100.0}
{"id":"MONDO:0010636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kallmann syndrome with spastic paraplegia","equivalent_identifiers":["MONDO:0010636","OMIM:308750","UMLS:C1839911","MESH:C536873","medgen:333437"],"information_content":100.0}
{"id":"MONDO:0010637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis follicularis spinulosa decalvans, X-linked","equivalent_identifiers":["MONDO:0010637","DOID:0080754","OMIM:308800","UMLS:C3887525","MESH:C536159","medgen:854384"],"information_content":100.0}
{"id":"MONDO:0010638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis follicularis-dwarfism-cerebral atrophy syndrome","equivalent_identifiers":["MONDO:0010638","OMIM:308830","orphanet:2339","UMLS:C1839910","MESH:C536158","medgen:374340"],"information_content":100.0}
{"id":"MONDO:0010639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal abductor paralysis-intellectual disability syndrome","equivalent_identifiers":["MONDO:0010639","OMIM:308850","orphanet:2375","UMLS:C4319572","UMLS:C5886766","SNOMEDCT:724178000","medgen:1855824"],"information_content":100.0}
{"id":"MONDO:0010640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber optic atrophy, susceptibility to","equivalent_identifiers":["MONDO:0010640","OMIM:308905","UMLS:C1839891","medgen:374333"],"information_content":100.0}
{"id":"MONDO:0010641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked diffuse leiomyomatosis-Alport syndrome","equivalent_identifiers":["MONDO:0010641","OMIM:308940","orphanet:1018","UMLS:C1839884","MESH:C537113","medgen:333429"],"information_content":95.4}
{"id":"MONDO:0010642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lesch-Nyhan phenotype with normal HGPRT","equivalent_identifiers":["MONDO:0010642","OMIM:308950","UMLS:C1839883","medgen:374332"],"information_content":100.0}
{"id":"MONDO:0010643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute leukemia","equivalent_identifiers":["MONDO:0010643","DOID:12603","EFO:1000068","UMLS:C0085669","UMLS:C1378511","UMLS:C1378512","UMLS:C4280572","MESH:C564112","MEDDRA:10000830","MEDDRA:10000831","MEDDRA:10000833","MEDDRA:10000835","MEDDRA:10000836","MEDDRA:10024289","MEDDRA:10024315","MEDDRA:10024321","MEDDRA:10024322","MEDDRA:10024330","MEDDRA:10024353","MEDDRA:10024358","MEDDRA:10024359","MEDDRA:10060554","NCIT:C9300","SNOMEDCT:24072005","SNOMEDCT:91855006","medgen:43225","ICD10:C95.00","ICD9:208.0","HP:0002488"],"information_content":58.0}
{"id":"MONDO:0010644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis","equivalent_identifiers":["MONDO:0010644","DOID:0111815","OMIM:308990","UMLS:C1839874","MESH:C545036","medgen:333426"],"information_content":100.0}
{"id":"MONDO:0010645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocerebrorenal syndrome","equivalent_identifiers":["MONDO:0010645","DOID:1056","OMIM:309000","orphanet:534","UMLS:C0028860","UMLS:C2713392","MESH:D009800","MEDDRA:10051707","MEDDRA:10051754","NCIT:C84940","SNOMEDCT:79385002","medgen:18145","icd11.foundation:1392767390","ICD10:E72.03"],"information_content":100.0}
{"id":"MONDO:0010646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular dystrophy, X-linked","inheritance":"X-linked inheritance","equivalent_identifiers":["MONDO:0010646","OMIM:309100","UMLS:C1839842","MESH:C564110","medgen:374323"],"information_content":100.0}
{"id":"MONDO:0010647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure, X-linked, 2","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010647","DOID:0070185","OMIM:309120","UMLS:C1839841","medgen:374322"],"information_content":100.0}
{"id":"MONDO:0010648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"major affective disorder 2","equivalent_identifiers":["MONDO:0010648","OMIM:309200","UMLS:C1839839","MESH:C564108","medgen:326975"],"information_content":100.0}
{"id":"MONDO:0010649","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated congenital megalocornea","equivalent_identifiers":["MONDO:0010649","OMIM:309300","orphanet:91489","UMLS:C4518341","SNOMEDCT:734026006","medgen:1385311"],"information_content":100.0}
{"id":"MONDO:0010650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Melnick-Needles syndrome","equivalent_identifiers":["MONDO:0010650","DOID:0111788","OMIM:309350","orphanet:2484","UMLS:C0025237","MEDDRA:10059236","MEDDRA:10060908","SNOMEDCT:13449007","medgen:6292"],"information_content":100.0}
{"id":"MONDO:0010651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Menkes disease","equivalent_identifiers":["MONDO:0010651","DOID:1838","OMIM:309400","orphanet:565","UMLS:C0022716","MESH:D007706","MEDDRA:10023452","MEDDRA:10027292","MEDDRA:10027293","MEDDRA:10027294","NCIT:C75486","SNOMEDCT:59178007","medgen:44030","icd11.foundation:986728180"],"information_content":100.0}
{"id":"MONDO:0010652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-seizures-psoriasis syndrome","equivalent_identifiers":["MONDO:0010652","OMIM:309480","orphanet:3052","UMLS:C2931381","UMLS:C3501539","MESH:C536978","MESH:C564107","SNOMEDCT:719810000","medgen:501947"],"information_content":100.0}
{"id":"MONDO:0010653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Renpenning syndrome","equivalent_identifiers":["MONDO:0010653","DOID:0060179","OMIM:309500","orphanet:3242","UMLS:C0796135","MESH:C537761","NCIT:C165533","SNOMEDCT:699669001","medgen:208670","icd11.foundation:1415315699","ICD10:Q87.5"],"information_content":89.4}
{"id":"MONDO:0010654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Partington syndrome","equivalent_identifiers":["MONDO:0010654","DOID:14744","OMIM:309510","orphanet:94083","UMLS:C0796250","MESH:C536300","medgen:163237"],"information_content":100.0}
{"id":"MONDO:0010655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability with marfanoid habitus","equivalent_identifiers":["MONDO:0010655","DOID:0080985","OMIM:309520","orphanet:776","UMLS:C0796022","MESH:C537724","SNOMEDCT:422437002","medgen:167096"],"information_content":100.0}
{"id":"MONDO:0010656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 1","equivalent_identifiers":["MONDO:0010656","DOID:0112038","OMIM:309530","orphanet:397933","UMLS:C1845181","UMLS:C2931498","MESH:C564489","MESH:C567906","NCIT:C133729","SNOMEDCT:774149004","medgen:444070"],"information_content":100.0}
{"id":"MONDO:0010657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic acidemia with homocystinuria, type cblX","equivalent_identifiers":["MONDO:0010657","DOID:0111814","OMIM:309541","orphanet:369962","UMLS:C0796208","MESH:C563136","medgen:167111"],"information_content":100.0}
{"id":"MONDO:0010658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability 12","equivalent_identifiers":["MONDO:0010658","DOID:0060804","OMIM:309545","orphanet:85290","UMLS:C1839792","UMLS:C4305028","MESH:C564106","SNOMEDCT:719009006","medgen:333405"],"information_content":100.0}
{"id":"MONDO:0010659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FRAXE Syndrome","equivalent_identifiers":["MONDO:0010659","DOID:0080984","OMIM:309548","orphanet:100973","UMLS:C0751157","UMLS:C4274328","SNOMEDCT:716709002","medgen:155512"],"information_content":100.0}
{"id":"MONDO:0010660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 9","equivalent_identifiers":["MONDO:0010660","DOID:0112034","OMIM:309549","UMLS:C0796215","MESH:C563137","medgen:167112"],"information_content":100.0}
{"id":"MONDO:0010661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe X-linked intellectual disability, Gustavson type","equivalent_identifiers":["MONDO:0010661","DOID:0081123","OMIM:309555","orphanet:3078","UMLS:C0795965","UMLS:C4302744","MESH:C536759","SNOMEDCT:722213009","medgen:167088"],"information_content":100.0}
{"id":"MONDO:0010662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paraplegia-intellectual disability-hyperkeratosis syndrome","equivalent_identifiers":["MONDO:0010662","OMIM:309560","orphanet:2824","UMLS:C2745996","MESH:C537058","SNOMEDCT:722209002","medgen:411554"],"information_content":100.0}
{"id":"MONDO:0010663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-hypotonic facies syndrome, X-linked, 1","equivalent_identifiers":["MONDO:0010663","DOID:0080982","OMIM:309580","UMLS:C0796159","UMLS:C4759781","MESH:C537445","MESH:C537457","SNOMEDCT:1156584007","SNOMEDCT:717763008","SNOMEDCT:719212004","medgen:1676827"],"information_content":100.0}
{"id":"MONDO:0010664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic X-linked intellectual disability Snyder type","equivalent_identifiers":["MONDO:0010664","DOID:0060802","OMIM:309583","orphanet:3063","UMLS:C0796160","MESH:C536678","SNOMEDCT:702416008","medgen:162918"],"information_content":100.0}
{"id":"MONDO:0010665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilson-Turner syndrome","equivalent_identifiers":["MONDO:0010665","DOID:0060814","OMIM:309585","orphanet:3459","UMLS:C1839736","MESH:C536708","SNOMEDCT:719834005","medgen:333393","icd11.foundation:2015561482"],"information_content":100.0}
{"id":"MONDO:0010667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prieto syndrome","equivalent_identifiers":["MONDO:0010667","DOID:0060805","OMIM:309610","orphanet:2958","UMLS:C1839730","UMLS:C4304934","MESH:C535274","SNOMEDCT:719140001","medgen:374294"],"information_content":100.0}
{"id":"MONDO:0010668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal dysplasia-intellectual disability syndrome","equivalent_identifiers":["MONDO:0010668","OMIM:309620","orphanet:1436","UMLS:C1839729","MESH:C564101","SNOMEDCT:722478008","medgen:326949"],"information_content":100.0}
{"id":"MONDO:0010669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndactyly type 8","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010669","DOID:0111813","OMIM:309630","orphanet:2498","UMLS:C1839728","MESH:C564100","SNOMEDCT:715442006","medgen:333392","icd11.foundation:577712860"],"information_content":100.0}
{"id":"MONDO:0010671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, syndromic 1","equivalent_identifiers":["MONDO:0010671","DOID:0111799","OMIM:309800","orphanet:85275","UMLS:C0796016","UMLS:C1844948","MESH:C537464","SNOMEDCT:438504004","SNOMEDCT:717222003","medgen:162898"],"information_content":100.0}
{"id":"MONDO:0010672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MLS syndrome","equivalent_identifiers":["MONDO:0010672","DOID:0111875","OMIM.PS:309801","orphanet:2556","MESH:C537466","SNOMEDCT:721879006"],"information_content":90.9}
{"id":"MONDO:0010673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"modifier, X-linked, for Neurofunctional defects","equivalent_identifiers":["MONDO:0010673","OMIM:309840","UMLS:C1839708","MESH:C564098","medgen:326945"],"information_content":100.0}
{"id":"MONDO:0010674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hunter Syndrome","equivalent_identifiers":["MONDO:0010674","DOID:12799","OMIM:309900","orphanet:580","orphanet:79388","UMLS:C0026705","MESH:D016532","MEDDRA:10056889","MEDDRA:10056917","NCIT:C61260","SNOMEDCT:70737009","medgen:7734","icd11.foundation:1056274204","ICD10:E76.1"],"information_content":92.8}
{"id":"MONDO:0010675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, cardiac type","equivalent_identifiers":["MONDO:0010675","OMIM:309930","UMLS:C1442927","MESH:C563247","medgen:254845"],"information_content":100.0}
{"id":"MONDO:0010676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, Hemizygous lethal type","equivalent_identifiers":["MONDO:0010676","OMIM:309950","UMLS:C1839671","MESH:C564097","medgen:326552"],"information_content":100.0}
{"id":"MONDO:0010679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Duchenne muscular dystrophy","equivalent_identifiers":["MONDO:0010679","DOID:11723","OMIM:310200","orphanet:98896","UMLS:C0013264","MESH:D020388","MEDDRA:10013801","NCIT:C75482","SNOMEDCT:76670001","medgen:3925","icd11.foundation:1479561744"],"information_content":100.0}
{"id":"MONDO:0010680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked Emery-Dreifuss muscular dystrophy","equivalent_identifiers":["MONDO:0010680","orphanet:98863","UMLS:C0751337","MESH:D000083143","SNOMEDCT:1156836006","medgen:148284"],"information_content":89.4}
{"id":"MONDO:0010681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelolymphatic insufficiency","equivalent_identifiers":["MONDO:0010681","OMIM:310350","UMLS:C1839650","medgen:333371"],"information_content":100.0}
{"id":"MONDO:0010683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked myotubular myopathy","equivalent_identifiers":["MONDO:0010683","DOID:0111225","OMIM:310400","orphanet:596","UMLS:C0410203","NCIT:C118781","SNOMEDCT:46804001","medgen:98374","ICD10:G71.220"],"information_content":92.8}
{"id":"MONDO:0010684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked myopathy with excessive autophagy","equivalent_identifiers":["MONDO:0010684","DOID:0050760","OMIM:310440","orphanet:25980","UMLS:C1839615","MESH:C536522","MESH:C564093","SNOMEDCT:719815005","medgen:374264"],"information_content":95.4}
{"id":"MONDO:0010685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myopia 1","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010685","OMIM:310460","UMLS:C1839612","MESH:C564091","medgen:326540"],"information_content":100.0}
{"id":"MONDO:0010687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrolithiasis, X-linked recessive, with renal failure","equivalent_identifiers":["MONDO:0010687","DOID:0111798","OMIM:310468","UMLS:C0403720","MESH:C562901","SNOMEDCT:236713006","medgen:96047"],"information_content":100.0}
{"id":"MONDO:0010688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory neuropathy X-linked","inheritance":"X-linked inheritance","equivalent_identifiers":["MONDO:0010688","DOID:0070159","OMIM:310470","UMLS:C1839602","MESH:C564090","medgen:333359"],"information_content":100.0}
{"id":"MONDO:0010689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease X-linked recessive 4","equivalent_identifiers":["MONDO:0010689","DOID:0110212","OMIM:310490","orphanet:101078","UMLS:C0795910","MESH:C536450","SNOMEDCT:763400005","medgen:162891"],"information_content":100.0}
{"id":"MONDO:0010690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness 1A","equivalent_identifiers":["MONDO:0010690","DOID:0110870","OMIM:310500","UMLS:C3495587","medgen:501208"],"information_content":100.0}
{"id":"MONDO:0010691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Norrie disease","equivalent_identifiers":["MONDO:0010691","DOID:0060844","OMIM:310600","orphanet:649","UMLS:C0266526","MESH:C537849","MEDDRA:10069760","NCIT:C118634","SNOMEDCT:15228007","medgen:75615","icd11.foundation:676214590"],"information_content":100.0}
{"id":"MONDO:0010693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus 1, congenital, X-linked","equivalent_identifiers":["MONDO:0010693","DOID:0111790","OMIM:310700","UMLS:C1839580","UMLS:C3151880","MESH:C537853","medgen:333352"],"information_content":100.0}
{"id":"MONDO:0010694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus, myoclonic","equivalent_identifiers":["MONDO:0010694","OMIM:310800","UMLS:C1839579","MESH:C564088","medgen:326918"],"information_content":100.0}
{"id":"MONDO:0010696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"omphalocele, X-linked","equivalent_identifiers":["MONDO:0010696","OMIM:310980","UMLS:C3275625","medgen:477256"],"information_content":100.0}
{"id":"MONDO:0010697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmoplegia, external, and myopia","equivalent_identifiers":["MONDO:0010697","OMIM:311000","UMLS:C1839577","MESH:C564087","medgen:326916"],"information_content":100.0}
{"id":"MONDO:0010698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 2","equivalent_identifiers":["MONDO:0010698","DOID:0111443","OMIM:311050","orphanet:98890","UMLS:C1839576","MESH:C537125","SNOMEDCT:721200000","medgen:326915"],"information_content":100.0}
{"id":"MONDO:0010699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease X-linked recessive 5","equivalent_identifiers":["MONDO:0010699","DOID:0110210","OMIM:311070","orphanet:99014","UMLS:C1839566","MESH:C537129","SNOMEDCT:763460007","medgen:374254"],"information_content":95.4}
{"id":"MONDO:0010700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy--spastic paraplegia syndrome","equivalent_identifiers":["MONDO:0010700","OMIM:311100","UMLS:C1839565","MESH:C564084","medgen:326914"],"information_content":100.0}
{"id":"MONDO:0010702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome I","equivalent_identifiers":["MONDO:0010702","DOID:0060316","OMIM:311200","orphanet:2750","UMLS:C1306831","UMLS:C1510460","UMLS:C2931426","MESH:C537134","NCIT:C75481","SNOMEDCT:403773005","SNOMEDCT:763833006","medgen:307142"],"information_content":100.0}
{"id":"MONDO:0010703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ornithine carbamoyltransferase deficiency","equivalent_identifiers":["MONDO:0010703","DOID:9271","OMIM:311250","orphanet:664","EFO:0007409","UMLS:C0268542","MESH:D020163","MEDDRA:10052450","MEDDRA:10052513","MEDDRA:10071107","NCIT:C84957","SNOMEDCT:80908008","medgen:75692","icd11.foundation:1822444026","ICD10:E72.4"],"information_content":100.0}
{"id":"MONDO:0010704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otopalatodigital syndrome type 1","equivalent_identifiers":["MONDO:0010704","DOID:0111783","OMIM:311300","orphanet:90650","UMLS:C0265251","UMLS:C2748919","MESH:C536065","MESH:C567578","MEDDRA:10084422","NCIT:C118845","SNOMEDCT:54036001","medgen:78542","icd11.foundation:1442049882"],"information_content":100.0}
{"id":"MONDO:0010706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 1","equivalent_identifiers":["MONDO:0010706","DOID:0080857","OMIM:311360","orphanet:642691","UMLS:C3494522","UMLS:C4552079","SNOMEDCT:1332509007","medgen:1644269"],"information_content":95.4}
{"id":"MONDO:0010707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paine syndrome","equivalent_identifiers":["MONDO:0010707","OMIM:311400","UMLS:C1412041","MESH:C538101","medgen:234691"],"information_content":100.0}
{"id":"MONDO:0010708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pallister-W syndrome","equivalent_identifiers":["MONDO:0010708","OMIM:311450","orphanet:2804","UMLS:C0796110","MESH:C538106","MEDDRA:10084236","MEDDRA:10084239","MEDDRA:10085223","SNOMEDCT:719020006","medgen:163215"],"information_content":100.0}
{"id":"MONDO:0010709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset parkinsonism-intellectual disability syndrome","equivalent_identifiers":["MONDO:0010709","DOID:0111781","OMIM:311510","orphanet:2379","UMLS:C0796195","MESH:C537179","NCIT:C184991","SNOMEDCT:716107009","medgen:208674","icd11.foundation:937544163"],"information_content":100.0}
{"id":"MONDO:0010710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pierre Robin syndrome-faciodigital anomaly syndrome","equivalent_identifiers":["MONDO:0010710","OMIM:311895","orphanet:2888","UMLS:C2931064","MESH:C535926","MESH:C564078","SNOMEDCT:723461007","medgen:443969"],"information_content":100.0}
{"id":"MONDO:0010711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TARP syndrome","equivalent_identifiers":["MONDO:0010711","DOID:0111780","OMIM:311900","orphanet:2886","UMLS:C1839463","MESH:C536942","SNOMEDCT:725911008","medgen:333324"],"information_content":100.0}
{"id":"MONDO:0010712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panhypopituitarism, X-linked","equivalent_identifiers":["MONDO:0010712","DOID:0111779","OMIM:312000","UMLS:C0342376","MESH:C538613","SNOMEDCT:237683004","medgen:87439"],"information_content":100.0}
{"id":"MONDO:0010713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"properdin deficiency, X-linked","equivalent_identifiers":["MONDO:0010713","DOID:0111768","OMIM:312060","orphanet:2966","UMLS:C0398762","UMLS:C1839454","UMLS:C1839455","UMLS:C1839456","MESH:C537241","MESH:C564075","MESH:C564076","SNOMEDCT:81166004","medgen:333322"],"information_content":100.0}
{"id":"MONDO:0010714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pelizeaus-Merzbacher spectrum disorder","equivalent_identifiers":["MONDO:0010714","DOID:3210","OMIM:312080","orphanet:702","UMLS:C0205711","MESH:D020371","MEDDRA:10067610","NCIT:C75487","SNOMEDCT:64855000","medgen:61440","icd11.foundation:1313582105","HP:0003269"],"information_content":88.2}
{"id":"MONDO:0010716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked lethal multiple pterygium syndrome","equivalent_identifiers":["MONDO:0010716","OMIM:312150","orphanet:79447","UMLS:C1839440","UMLS:C4706472","MESH:C564072","SNOMEDCT:763462004","medgen:374225"],"information_content":100.0}
{"id":"MONDO:0010717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate dehydrogenase E1-alpha deficiency","equivalent_identifiers":["MONDO:0010717","OMIM:312170","orphanet:79243","UMLS:C0751597","UMLS:C1839413","MESH:C564071","SNOMEDCT:124593001","medgen:326486"],"information_content":100.0}
{"id":"MONDO:0010718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"absent radius-anogenital anomalies syndrome","equivalent_identifiers":["MONDO:0010718","OMIM:312190","orphanet:3016","UMLS:C1839410","MESH:C535281","medgen:333312"],"information_content":100.0}
{"id":"MONDO:0010719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radiation sensitivity of natural killer activity","equivalent_identifiers":["MONDO:0010719","OMIM:312210","UMLS:C1839408","MESH:C564066","medgen:333311"],"information_content":100.0}
{"id":"MONDO:0010720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lubs syndrome","equivalent_identifiers":["MONDO:0010720","DOID:0080776","OMIM:312300","orphanet:90797","UMLS:C0268301","UMLS:C2931847","MESH:C538435","MEDDRA:10038289","NCIT:C120192","SNOMEDCT:122811000119101","medgen:82785"],"information_content":100.0}
{"id":"MONDO:0010721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reticuloendotheliosis, X-linked","equivalent_identifiers":["MONDO:0010721","OMIM:312500","UMLS:C0035288","MESH:C538362","MEDDRA:10038800","MEDDRA:10038803","NCIT:C34977","medgen:19757"],"information_content":100.0}
{"id":"MONDO:0010722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked retinal dysplasia","equivalent_identifiers":["MONDO:0010722","OMIM:312550","orphanet:1852","UMLS:C3887971","UMLS:C4275241","SNOMEDCT:715240000","medgen:909011"],"information_content":100.0}
{"id":"MONDO:0010723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 2","equivalent_identifiers":["MONDO:0010723","DOID:0110415","OMIM:312600","UMLS:C2681923","MESH:C567523","medgen:394544"],"information_content":100.0}
{"id":"MONDO:0010725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked retinoschisis","equivalent_identifiers":["MONDO:0010725","DOID:0060763","OMIM:312700","orphanet:792","UMLS:C0271091","UMLS:C3714753","NCIT:C75483","SNOMEDCT:86923008","medgen:811458","icd11.foundation:2074506458","ICD10:Q14.1"],"information_content":100.0}
{"id":"MONDO:0010726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rett syndrome","equivalent_identifiers":["MONDO:0010726","DOID:1206","OMIM:312750","orphanet:778","UMLS:C0035372","UMLS:C1839332","UMLS:C2677682","MESH:C564063","MESH:C567442","MESH:D015518","MEDDRA:10039000","MEDDRA:10077709","NCIT:C75488","SNOMEDCT:68618008","medgen:48441","icd11.foundation:201200685","ICD10:F84.2"],"information_content":90.9}
{"id":"MONDO:0010728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SCARF syndrome","equivalent_identifiers":["MONDO:0010728","OMIM:312830","orphanet:3134","UMLS:C1839321","MESH:C536625","SNOMEDCT:734173003","medgen:326461","icd11.foundation:1075253748"],"information_content":100.0}
{"id":"MONDO:0010729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Schimke type","equivalent_identifiers":["MONDO:0010729","OMIM:312840","orphanet:85285","UMLS:C1839320","UMLS:C4305027","MESH:C536630","SNOMEDCT:719010001","medgen:374193"],"information_content":100.0}
{"id":"MONDO:0010730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency, X-linked","equivalent_identifiers":["MONDO:0010730","OMIM:312863","EFO:1001451"],"information_content":100.0}
{"id":"MONDO:0010731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Simpson-Golabi-Behmel syndrome","equivalent_identifiers":["MONDO:0010731","orphanet:373","UMLS:C4317043","MESH:C537340","MEDDRA:10085695","NCIT:C131002","SNOMEDCT:439143004","medgen:1387611","icd11.foundation:181316558"],"information_content":92.8}
{"id":"MONDO:0010732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraparesis-deafness syndrome","equivalent_identifiers":["MONDO:0010732","DOID:0081100","OMIM:312910","orphanet:2815","UMLS:C2931291","MESH:C536692","SNOMEDCT:715504003","medgen:419037"],"information_content":100.0}
{"id":"MONDO:0010733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 2","equivalent_identifiers":["MONDO:0010733","DOID:0110773","OMIM:312920","orphanet:99015","UMLS:C1839264","MESH:C536857","SNOMEDCT:723622007","medgen:374177"],"information_content":100.0}
{"id":"MONDO:0010734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spatial visualization, aptitude for","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010734","OMIM:313000","UMLS:C1839262","UMLS:C1839263","MESH:C564058","medgen:326850"],"information_content":100.0}
{"id":"MONDO:0010735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kennedy disease","equivalent_identifiers":["MONDO:0010735","DOID:0060161","OMIM:313200","orphanet:481","UMLS:C1839259","UMLS:C2931395","MESH:C537017","MESH:D055534","MEDDRA:10023331","MEDDRA:10068600","NCIT:C85233","medgen:333282"],"information_content":100.0}
{"id":"MONDO:0010736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split hand-foot malformation 2","equivalent_identifiers":["MONDO:0010736","DOID:0090027","OMIM:313350","UMLS:C1839258","MESH:C564056","medgen:326848"],"information_content":100.0}
{"id":"MONDO:0010737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia tarda, X-linked","equivalent_identifiers":["MONDO:0010737","DOID:0080362","OMIM:313400","UMLS:C3541456","MEDDRA:10074798","medgen:762085","icd11.foundation:219612045"],"information_content":100.0}
{"id":"MONDO:0010738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia, Golden type","equivalent_identifiers":["MONDO:0010738","OMIM:313420","orphanet:168544","UMLS:C0796172","MESH:C563124","SNOMEDCT:773304004","medgen:208672","icd11.foundation:840695879"],"information_content":100.0}
{"id":"MONDO:0010740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"taurodontism, microdontia, and dens invaginatus","equivalent_identifiers":["MONDO:0010740","OMIM:313490","UMLS:C1839235","MESH:C536947","medgen:374171"],"information_content":100.0}
{"id":"MONDO:0010741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth agenesis, selective, X-linked, 1","equivalent_identifiers":["MONDO:0010741","OMIM:313500","UMLS:C1970757","MESH:C567060","medgen:410143"],"information_content":100.0}
{"id":"MONDO:0010742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pentalogy of Cantrell","equivalent_identifiers":["MONDO:0010742","OMIM:313850","orphanet:1335","UMLS:C0559483","UMLS:C1839173","MESH:C564054","MESH:D058502","NCIT:C99011","SNOMEDCT:281587000","medgen:107540"],"information_content":100.0}
{"id":"MONDO:0010743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 1","equivalent_identifiers":["MONDO:0010743","OMIM:313900","orphanet:852","UMLS:C1839163","UMLS:C1839164","MESH:C564052","MESH:C564053","NCIT:C176617","medgen:326416"],"information_content":100.0}
{"id":"MONDO:0010744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia with elevated serum IgA and renal disease","equivalent_identifiers":["MONDO:0010744","OMIM:314000","UMLS:C1839162","MESH:C564051","medgen:374149"],"information_content":100.0}
{"id":"MONDO:0010745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta-thalassemia-X-linked thrombocytopenia syndrome","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010745","DOID:0111767","OMIM:314050","orphanet:231393","UMLS:C1839161","MESH:C564050","NCIT:C134941","SNOMEDCT:718196002","medgen:326415","icd11.foundation:905057212"],"information_content":100.0}
{"id":"MONDO:0010746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adducted thumb","equivalent_identifiers":["MONDO:0010746","OMIM:314100","UMLS:C0431886","UMLS:C3554617","MEDDRA:10090363","SNOMEDCT:205273005","medgen:98140","HP:0001181"],"information_content":100.0}
{"id":"MONDO:0010747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked dystonia-parkinsonism","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["MONDO:0010747","DOID:0090057","OMIM:314250","orphanet:53351","UMLS:C1839130","MESH:C564048","NCIT:C126330","SNOMEDCT:698279003","medgen:326820"],"information_content":100.0}
{"id":"MONDO:0010748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torticollis-keloids-cryptorchidism-renal dysplasia syndrome","equivalent_identifiers":["MONDO:0010748","OMIM:314300","orphanet:3341","UMLS:C1839129","MESH:C536970","medgen:326819"],"information_content":100.0}
{"id":"MONDO:0010749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trigonocephaly-short stature-developmental delay syndrome","equivalent_identifiers":["MONDO:0010749","OMIM:314320","orphanet:3369","UMLS:C1839125","MESH:C536620","SNOMEDCT:733066002","medgen:374138"],"information_content":100.0}
{"id":"MONDO:0010750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulnar hypoplasia-split foot syndrome","equivalent_identifiers":["MONDO:0010750","OMIM:314360","orphanet:1122","UMLS:C1839123","MESH:C536936","medgen:333256"],"information_content":100.0}
{"id":"MONDO:0010751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"unique green phenomenon","inheritance":"X-linked inheritance","equivalent_identifiers":["MONDO:0010751","OMIM:314380","UMLS:C1839116","medgen:326816"],"information_content":100.0}
{"id":"MONDO:0010752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"VACTERL association, X-linked, with or without hydrocephalus","equivalent_identifiers":["MONDO:0010752","DOID:0111766","OMIM:314390","UMLS:C2931228","medgen:419019"],"information_content":100.0}
{"id":"MONDO:0010753","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac valvular dysplasia, X-linked","equivalent_identifiers":["MONDO:0010753","DOID:0111765","OMIM:314400","orphanet:555877","UMLS:C0262436","UMLS:C4273726","MESH:C535576","NCIT:C173469","SNOMEDCT:1186709006","SNOMEDCT:718128009","medgen:78083"],"information_content":100.0}
{"id":"MONDO:0010754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van den Bosch syndrome","equivalent_identifiers":["MONDO:0010754","OMIM:314500","orphanet:3417","UMLS:C0796192","MESH:C563129","SNOMEDCT:733110004","medgen:162920"],"information_content":100.0}
{"id":"MONDO:0010755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vesicoureteral reflux, X-linked","equivalent_identifiers":["MONDO:0010755","OMIM:314550","UMLS:C1839114","MESH:C564042","medgen:374134"],"information_content":100.0}
{"id":"MONDO:0010756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Von Willebrand disease, X-linked form","equivalent_identifiers":["MONDO:0010756","OMIM:314560","UMLS:C1839113","MESH:C564041","medgen:333255"],"information_content":100.0}
{"id":"MONDO:0010758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wieacker-Wolff syndrome","equivalent_identifiers":["MONDO:0010758","DOID:0060815","OMIM:314580","orphanet:3454","orphanet:85283","UMLS:C0796200","UMLS:C1839735","UMLS:C4305025","MESH:C536703","SNOMEDCT:719012009","SNOMEDCT:722456001","medgen:163227"],"information_content":100.0}
{"id":"MONDO:0010759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wildervanck syndrome","equivalent_identifiers":["MONDO:0010759","OMIM:314600","orphanet:3456","UMLS:C0265239","MEDDRA:10069402","SNOMEDCT:79665007","medgen:120518"],"information_content":100.0}
{"id":"MONDO:0010761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa Y-linked","equivalent_identifiers":["MONDO:0010761","DOID:0110418","OMIM:400004","UMLS:C1839079","MESH:C564035","medgen:326805"],"information_content":100.0}
{"id":"MONDO:0010763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure, Y-linked, 1","inheritance":"Y-linked inheritance","equivalent_identifiers":["MONDO:0010763","DOID:0070186","OMIM:400042","UMLS:C1839073","UMLS:C1839074","UMLS:C1839075","UMLS:C4048572","UMLS:C4551960","MESH:C537587","MESH:C564032","MESH:C564033","NCIT:C166105","SNOMEDCT:713919009","medgen:1634798","HP:0034813"],"information_content":100.0}
{"id":"MONDO:0010764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, Y-linked 1","equivalent_identifiers":["MONDO:0010764","DOID:0111759","OMIM:400043","UMLS:C3888076","medgen:854748"],"information_content":100.0}
{"id":"MONDO:0010765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Swyer Syndrome","equivalent_identifiers":["MONDO:0010765","DOID:14448","OMIM.PS:400044","orphanet:242","UMLS:C0018054","UMLS:C2936694","MESH:D006061","MEDDRA:10084327","NCIT:C120198","SNOMEDCT:95218005","medgen:445380","HP:0008668"],"information_content":83.1}
{"id":"MONDO:0010767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AZF REGIONS","inheritance":"Y-linked inheritance","equivalent_identifiers":["MONDO:0010767","DOID:0070187","OMIM:415000","UMLS:C1839071","UMLS:C1839072","MESH:C564030","NCIT:C185244","medgen:326394"],"information_content":100.0}
{"id":"MONDO:0010768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gonadoblastoma","equivalent_identifiers":["MONDO:0010768","DOID:3301","UMLS:C0206661","MESH:D018238","MEDDRA:10018506","NCIT:C3754","SNOMEDCT:1162858007","SNOMEDCT:74751003","medgen:104912","HP:0000150"],"information_content":88.2}
{"id":"MONDO:0010769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hairy ears, Y-linked","equivalent_identifiers":["MONDO:0010769","OMIM:425500","UMLS:C1839070","MESH:C564029","medgen:374123"],"information_content":100.0}
{"id":"MONDO:0010771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"histiocytoid cardiomyopathy","equivalent_identifiers":["MONDO:0010771","DOID:0080198","OMIM:500000","orphanet:137675","UMLS:C1708371","MESH:C535584","NCIT:C45745","medgen:310844","icd11.foundation:1870618141","HP:0005152"],"information_content":95.4}
{"id":"MONDO:0010772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber optic atrophy and dystonia","equivalent_identifiers":["MONDO:0010772","DOID:0111755","OMIM:500001","UMLS:C1839040","MESH:C536024","medgen:333240"],"information_content":100.0}
{"id":"MONDO:0010773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial myopathy with diabetes","equivalent_identifiers":["MONDO:0010773","OMIM:500002","orphanet:2596","UMLS:C1839028","MESH:C564026","medgen:333236"],"information_content":100.0}
{"id":"MONDO:0010774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"striatonigral degeneration, infantile, mitochondrial","equivalent_identifiers":["MONDO:0010774","OMIM:500003","UMLS:C1839022","MESH:C564025","medgen:374113"],"information_content":100.0}
{"id":"MONDO:0010778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cyclic vomiting syndrome","equivalent_identifiers":["MONDO:0010778","OMIM:500007","UMLS:C0152164","UMLS:C1838991","UMLS:C1838992","MESH:C536228","MESH:C564022","MESH:C564023","MEDDRA:10062937","NCIT:C117014","SNOMEDCT:18773000","medgen:57509","icd11.foundation:1434288855"],"information_content":100.0}
{"id":"MONDO:0010779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial non-syndromic sensorineural hearing loss","equivalent_identifiers":["MONDO:0010779","DOID:0111751","OMIM:500008","orphanet:90641","UMLS:C3151897","medgen:463247"],"information_content":95.4}
{"id":"MONDO:0010780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial myopathy with reversible cytochrome C oxidase deficiency","equivalent_identifiers":["MONDO:0010780","OMIM:500009","orphanet:254864","UMLS:C3151898","medgen:463248","icd11.foundation:723205095"],"information_content":100.0}
{"id":"MONDO:0010784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chloramphenicol toxicity","equivalent_identifiers":["MONDO:0010784","OMIM:515000","UMLS:C0008170","UMLS:C0274502","UMLS:C1838989","MESH:D002702","SNOMEDCT:42894006","medgen:374104"],"information_content":100.0}
{"id":"MONDO:0010785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternally-inherited diabetes and deafness","equivalent_identifiers":["MONDO:0010785","OMIM:520000","UMLS:C0342289","UMLS:C4330695","MESH:C536246","MEDDRA:10086189","NCIT:C130996","NCIT:C131859","SNOMEDCT:237619009","medgen:90979"],"information_content":100.0}
{"id":"MONDO:0010787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kearns-Sayre syndrome","equivalent_identifiers":["MONDO:0010787","DOID:12934","OMIM:530000","orphanet:480","UMLS:C0022541","MESH:D007625","MEDDRA:10048804","NCIT:C84798","SNOMEDCT:25792000","SNOMEDCT:77835008","medgen:9618","icd11.foundation:399100745","ICD10:H49.81"],"information_content":100.0}
{"id":"MONDO:0010788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber hereditary optic neuropathy","equivalent_identifiers":["MONDO:0010788","DOID:705","OMIM:535000","orphanet:104","UMLS:C0917796","MESH:D029242","MEDDRA:10062951","NCIT:C84808","SNOMEDCT:58610003","medgen:182973","icd11.foundation:1018428959","ICD10:H47.22","HP:0001112"],"information_content":92.8}
{"id":"MONDO:0010789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELAS syndrome","equivalent_identifiers":["MONDO:0010789","DOID:3687","OMIM:540000","orphanet:550","UMLS:C0162671","MESH:D017241","MEDDRA:10053872","MEDDRA:10067602","NCIT:C84885","SNOMEDCT:39925003","medgen:56485","ICD10:E88.41"],"information_content":84.2}
{"id":"MONDO:0010790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MERRF syndrome","equivalent_identifiers":["MONDO:0010790","DOID:310","OMIM:545000","orphanet:551","UMLS:C0162672","MESH:D017243","MEDDRA:10062939","MEDDRA:10067603","MEDDRA:10069825","NCIT:C84889","SNOMEDCT:230426003","SNOMEDCT:68448003","medgen:56486","ICD10:E88.42"],"information_content":100.0}
{"id":"MONDO:0010791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoglobinuria, recurrent","equivalent_identifiers":["MONDO:0010791","OMIM:550500","UMLS:C1838877","MESH:C564018","medgen:333201","HP:0003652"],"information_content":100.0}
{"id":"MONDO:0010792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal infantile mitochondrial myopathy","equivalent_identifiers":["MONDO:0010792","OMIM:551000","orphanet:254857","UMLS:C1838876","MESH:C564017","SNOMEDCT:766251006","medgen:374077","icd11.foundation:642272262","HP:0009069"],"information_content":100.0}
{"id":"MONDO:0010794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NARP syndrome","equivalent_identifiers":["MONDO:0010794","DOID:0111273","OMIM:551500","orphanet:644","UMLS:C1328349","MESH:C537396","MEDDRA:10062940","SNOMEDCT:237984008","medgen:231285","icd11.foundation:2089784682"],"information_content":100.0}
{"id":"MONDO:0010795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oncocytic neoplasm","inheritance":"Mitochondrial inheritance","equivalent_identifiers":["MONDO:0010795","OMIM:553000","UMLS:C1378050","NCIT:C7072","medgen:237181"],"information_content":76.9}
{"id":"MONDO:0010796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease, mitochondrial","equivalent_identifiers":["MONDO:0010796","OMIM:556500","UMLS:C1838867","MESH:C564015","medgen:333199"],"information_content":100.0}
{"id":"MONDO:0010797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pearson syndrome","equivalent_identifiers":["MONDO:0010797","DOID:0060067","OMIM:557000","orphanet:699","UMLS:C0342784","MEDDRA:10062941","NCIT:C115326","SNOMEDCT:237985009","medgen:87459","icd11.foundation:452521132"],"information_content":100.0}
{"id":"MONDO:0010798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome","equivalent_identifiers":["MONDO:0010798","OMIM:560000","UMLS:C3151959","UMLS:C3501777","MESH:C564014","medgen:463309"],"information_content":100.0}
{"id":"MONDO:0010799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, aminoglycoside-induced","equivalent_identifiers":["MONDO:0010799","DOID:0111734","OMIM:580000","UMLS:C1838854","MESH:C564013","medgen:374074"],"information_content":100.0}
{"id":"MONDO:0010800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolfram syndrome, mitochondrial form","equivalent_identifiers":["MONDO:0010800","DOID:0080583","OMIM:598500","UMLS:C1838782","MESH:C564012","medgen:325511"],"information_content":100.0}
{"id":"MONDO:0010801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocamptodactyly syndrome","equivalent_identifiers":["MONDO:0010801","OMIM:600000","orphanet:3180","UMLS:C1838781","UMLS:C4274762","MESH:C535779","SNOMEDCT:716231009","medgen:325510"],"information_content":100.0}
{"id":"MONDO:0010802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic hypoplasia-diabetes-congenital heart disease syndrome","equivalent_identifiers":["MONDO:0010802","DOID:0111733","OMIM:600001","orphanet:2255","UMLS:C2931296","MESH:C536714","MESH:C564011","SNOMEDCT:722206009","medgen:444022"],"information_content":100.0}
{"id":"MONDO:0010803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eiken syndrome","equivalent_identifiers":["MONDO:0010803","DOID:0111732","OMIM:600002","orphanet:79106","UMLS:C1838779","MESH:C564010","SNOMEDCT:720863002","medgen:325097","icd11.foundation:467339994"],"information_content":100.0}
{"id":"MONDO:0010805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bladder exstrophy","equivalent_identifiers":["MONDO:0010805","DOID:0080174","orphanet:93930","UMLS:C0005689","MESH:D001746","MEDDRA:10010453","MEDDRA:10014151","MEDDRA:10015720","MEDDRA:10048597","NCIT:C123207","SNOMEDCT:61758007","medgen:2661","icd11.foundation:1927556258","ICD10:Q64.10","ICD9:753.5","HP:0002836"],"information_content":95.4}
{"id":"MONDO:0010806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 13","equivalent_identifiers":["MONDO:0010806","DOID:0110403","OMIM:600059","UMLS:C1838702","MESH:C564008","medgen:325486"],"information_content":100.0}
{"id":"MONDO:0010807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 2","equivalent_identifiers":["MONDO:0010807","DOID:0110477","OMIM:600060","UMLS:C1838701","MESH:C564007","medgen:325485"],"information_content":100.0}
{"id":"MONDO:0010808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatal familial insomnia","equivalent_identifiers":["MONDO:0010808","DOID:0050433","OMIM:600072","orphanet:466","UMLS:C0206042","MESH:D034062","MEDDRA:10072077","NCIT:C84711","SNOMEDCT:83157008","medgen:104768","icd11.foundation:669154658","ICD10:A81.83","ICD9:046.72"],"information_content":100.0}
{"id":"MONDO:0010809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial chronic myelocytic leukemia-like syndrome","equivalent_identifiers":["MONDO:0010809","DOID:0060761","OMIM:600080","UMLS:C1838670","MESH:C536093","medgen:325075"],"information_content":100.0}
{"id":"MONDO:0010810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin D hydroxylation-deficient rickets, type 1B","equivalent_identifiers":["MONDO:0010810","DOID:0080887","OMIM:600081","UMLS:C1838657","MESH:C564005","NCIT:C131074","medgen:374020"],"information_content":100.0}
{"id":"MONDO:0010811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign prostatic hyperplasia","equivalent_identifiers":["MONDO:0010811","DOID:11132","OMIM:600082","EFO:0000284","UMLS:C0005001","UMLS:C1306869","UMLS:C1306871","UMLS:C1704272","UMLS:C1739363","UMLS:C2937421","MESH:D011470","MEDDRA:10004446","MEDDRA:10004447","MEDDRA:10014840","MEDDRA:10020728","MEDDRA:10020730","MEDDRA:10036961","MEDDRA:10036962","MEDDRA:10036963","MEDDRA:10065030","NCIT:C2897","SNOMEDCT:266569009","SNOMEDCT:433234005","medgen:312369","HP:0008711"],"information_content":89.4}
{"id":"MONDO:0010812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocytosis, familial","equivalent_identifiers":["MONDO:0010812","OMIM:600084","UMLS:C1838656","MESH:C564004","medgen:333150"],"information_content":100.0}
{"id":"MONDO:0010813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic beta cell agenesis with neonatal diabetes mellitus","equivalent_identifiers":["MONDO:0010813","OMIM:600089","UMLS:C1838655","MESH:C538111","medgen:325072"],"information_content":100.0}
{"id":"MONDO:0010814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrodysplasia-pseudohermaphroditism syndrome","equivalent_identifiers":["MONDO:0010814","DOID:0060644","OMIM:600092","orphanet:1422","UMLS:C1838654","MESH:C536123","SNOMEDCT:720851007","medgen:333149"],"information_content":100.0}
{"id":"MONDO:0010815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia tarda with characteristic facies","equivalent_identifiers":["MONDO:0010815","DOID:0112289","OMIM:600093","UMLS:C1838653","MESH:C564003","medgen:325071"],"information_content":100.0}
{"id":"MONDO:0010816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Qazi Markouizos syndrome","equivalent_identifiers":["MONDO:0010816","DOID:0050740","OMIM:600096","orphanet:3010","UMLS:C2931142","MESH:C536259","SNOMEDCT:721887007","medgen:443987"],"information_content":100.0}
{"id":"MONDO:0010817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 2A","equivalent_identifiers":["MONDO:0010817","DOID:0110558","OMIM:600101","UMLS:C2677637","MESH:C567441","medgen:436997"],"information_content":100.0}
{"id":"MONDO:0010818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 12","equivalent_identifiers":["MONDO:0010818","DOID:0110358","OMIM:600105","UMLS:C1838647","MESH:C563999","medgen:374019"],"information_content":100.0}
{"id":"MONDO:0010819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stargardt disease 3","equivalent_identifiers":["MONDO:0010819","OMIM:600110","UMLS:C1838644","MESH:C535805","medgen:333146"],"information_content":100.0}
{"id":"MONDO:0010820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive juvenile Parkinson disease 2","equivalent_identifiers":["MONDO:0010820","DOID:0060368","OMIM:600116","UMLS:C1868675","NCIT:C198603","medgen:401500"],"information_content":100.0}
{"id":"MONDO:0010821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial developmental dysphasia","equivalent_identifiers":["MONDO:0010821","OMIM:600117","orphanet:1799","UMLS:C1838630","MESH:C563997","SNOMEDCT:721220004","medgen:374015"],"information_content":100.0}
{"id":"MONDO:0010822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Warburg micro syndrome 1","equivalent_identifiers":["MONDO:0010822","DOID:0110716","OMIM:600118","UMLS:C1838625","MESH:C536681","medgen:333142"],"information_content":100.0}
{"id":"MONDO:0010823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhizomelic chondrodysplasia punctata type 3","equivalent_identifiers":["MONDO:0010823","DOID:0110853","OMIM:600121","orphanet:309803","UMLS:C1838612","MESH:C537608","SNOMEDCT:1003858007","medgen:374012","icd11.foundation:110878063"],"information_content":100.0}
{"id":"MONDO:0010824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disorder of sex development-intellectual disability syndrome","equivalent_identifiers":["MONDO:0010824","OMIM:600122","orphanet:2983","UMLS:C1838611","UMLS:C2931233","MESH:C535693","MESH:C536539","SNOMEDCT:719450007","medgen:325469"],"information_content":100.0}
{"id":"MONDO:0010825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrioventricular defect-blepharophimosis-radial and anal defect syndrome","equivalent_identifiers":["MONDO:0010825","OMIM:600123","orphanet:1352","UMLS:C1838606","MESH:C563994","medgen:374010"],"information_content":100.0}
{"id":"MONDO:0010826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood absence epilepsy","equivalent_identifiers":["MONDO:0010826","DOID:0050708","DOID:0070309","DOID:1825","OMIM.PS:600131","orphanet:64280","UMLS:C0014553","UMLS:C4281785","MESH:D004832","MEDDRA:10015043","MEDDRA:10034757","MEDDRA:10034759","MEDDRA:10083376","MEDDRA:10083377","MEDDRA:10085034","NCIT:C128189","NCIT:C3023","SNOMEDCT:50866000","SNOMEDCT:79631006","medgen:924120","icd11.foundation:726403046"],"information_content":88.2}
{"id":"MONDO:0010827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 14","equivalent_identifiers":["MONDO:0010827","DOID:0110381","OMIM:600132","UMLS:C1838603","MESH:C563992","medgen:325056"],"information_content":100.0}
{"id":"MONDO:0010828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 11","equivalent_identifiers":["MONDO:0010828","DOID:0110408","OMIM:600138","UMLS:C1838601","MESH:C563991","medgen:325055"],"information_content":100.0}
{"id":"MONDO:0010829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CARASIL syndrome","equivalent_identifiers":["MONDO:0010829","OMIM:600142","orphanet:199354","UMLS:C1838577","MESH:C563990","MEDDRA:10081315","MEDDRA:10081316","NCIT:C202018","SNOMEDCT:703219008","medgen:325051","icd11.foundation:984450655"],"information_content":100.0}
{"id":"MONDO:0010830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 8","equivalent_identifiers":["MONDO:0010830","DOID:0110723","OMIM:600143","orphanet:228354","UMLS:C1838570","MESH:C537952","SNOMEDCT:703526007","medgen:374004"],"information_content":95.4}
{"id":"MONDO:0010831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sacral agenesis","equivalent_identifiers":["MONDO:0010831","OMIM:600145","orphanet:1768","UMLS:C0344490","UMLS:C1838568","UMLS:C2931053","UMLS:C4476549","MESH:C535879","MESH:C537221","MEDDRA:10054842","NCIT:C99054","SNOMEDCT:205425003","SNOMEDCT:722493007","medgen:418973","HP:0010305"],"information_content":95.4}
{"id":"MONDO:0010832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 3","equivalent_identifiers":["MONDO:0010832","DOID:0110125","OMIM:600151","UMLS:C1859564","MESH:C537911","medgen:347179"],"information_content":100.0}
{"id":"MONDO:0010833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease, susceptibility to, 2","equivalent_identifiers":["MONDO:0010833","OMIM:600155","UMLS:C1838564","medgen:374002"],"information_content":100.0}
{"id":"MONDO:0010834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease, susceptibility to, 5","equivalent_identifiers":["MONDO:0010834","OMIM:600156","UMLS:C1970723","medgen:410137"],"information_content":100.0}
{"id":"MONDO:0010835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pterygium colli-intellectual disability-digital anomalies syndrome","equivalent_identifiers":["MONDO:0010835","OMIM:600159","orphanet:2988","UMLS:C1838562","MESH:C535831","SNOMEDCT:719256004","medgen:374001"],"information_content":100.0}
{"id":"MONDO:0010836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nanophthalmos 1","equivalent_identifiers":["MONDO:0010836","OMIM:600165","UMLS:C1838502","MESH:C563983","medgen:325037"],"information_content":100.0}
{"id":"MONDO:0010837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary hyperparathyroidism","equivalent_identifiers":["MONDO:0010837","DOID:11202","EFO:0008519","UMLS:C0221002","MESH:D049950","MEDDRA:10020707","MEDDRA:10036693","NCIT:C48280","SNOMEDCT:36348003","medgen:66354","icd11.foundation:817194045","ICD10:E21.0","ICD9:252.01","HP:0008200"],"information_content":81.3}
{"id":"MONDO:0010839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal dominant 8","equivalent_identifiers":["MONDO:0010839","DOID:0111215","OMIM:600175","orphanet:1216","UMLS:C1838492","MESH:C563981","SNOMEDCT:763067000","medgen:373984"],"information_content":100.0}
{"id":"MONDO:0010840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pachygyria-intellectual disability-epilepsy syndrome","equivalent_identifiers":["MONDO:0010840","OMIM:600176","orphanet:2798","UMLS:C1838491","MESH:C538091","SNOMEDCT:763861000","medgen:333107"],"information_content":100.0}
{"id":"MONDO:0010841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 2B","equivalent_identifiers":["MONDO:0010841","DOID:0110947","OMIM:600193","UMLS:C1838447","MESH:C536465","medgen:373973"],"information_content":100.0}
{"id":"MONDO:0010842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple cutaneous and mucosal venous malformations","equivalent_identifiers":["MONDO:0010842","DOID:0050792","OMIM:600195","orphanet:2451","UMLS:C1838437","MESH:C563977","SNOMEDCT:699301008","medgen:325026"],"information_content":100.0}
{"id":"MONDO:0010843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyslexia, susceptibility to, 2","equivalent_identifiers":["MONDO:0010843","OMIM:600202","UMLS:C1838436","medgen:325025"],"information_content":100.0}
{"id":"MONDO:0010844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiphyseal dysplasia, multiple, 2","equivalent_identifiers":["MONDO:0010844","DOID:0070298","OMIM:600204","UMLS:C1838429","MESH:C535502","medgen:333092"],"information_content":100.0}
{"id":"MONDO:0010847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 4","equivalent_identifiers":["MONDO:0010847","DOID:0050957","OMIM:600223","orphanet:98765","UMLS:C0752122","SNOMEDCT:715755008","medgen:199815","icd11.foundation:1686006145"],"information_content":100.0}
{"id":"MONDO:0010848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 5","equivalent_identifiers":["MONDO:0010848","DOID:0050882","OMIM:600224","orphanet:98766","UMLS:C0752123","SNOMEDCT:719302009","medgen:155705","icd11.foundation:78905851"],"information_content":100.0}
{"id":"MONDO:0010849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma, Bothnian type","equivalent_identifiers":["MONDO:0010849","DOID:0111707","OMIM:600231","orphanet:2337","UMLS:C1838359","MESH:C536173","medgen:325011"],"information_content":100.0}
{"id":"MONDO:0010850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tessier number 4 facial cleft","equivalent_identifiers":["MONDO:0010850","DOID:0111706","OMIM:600251","orphanet:141258","UMLS:C4703420","medgen:1642051","icd11.foundation:1796306367","HP:0031576"],"information_content":100.0}
{"id":"MONDO:0010851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lowry-MacLean syndrome","equivalent_identifiers":["MONDO:0010851","OMIM:600252","orphanet:2409","UMLS:C0796020","MESH:C537037","SNOMEDCT:721974000","medgen:167095","icd11.foundation:698387769"],"information_content":100.0}
{"id":"MONDO:0010852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 8Q12.1-q21.2 deletion syndrome","equivalent_identifiers":["MONDO:0010852","OMIM:600257","UMLS:C1838346","MESH:C536574","medgen:333071"],"information_content":100.0}
{"id":"MONDO:0010853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Helicobacter pylori infection, susceptibility to","equivalent_identifiers":["MONDO:0010853","OMIM:600263","UMLS:C1838332","medgen:325004"],"information_content":100.0}
{"id":"MONDO:0010854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Toriello-Lacassie-Droste syndrome","equivalent_identifiers":["MONDO:0010854","DOID:0111705","OMIM:600268","orphanet:3339","UMLS:C1838329","MESH:C563969","SNOMEDCT:723554006","medgen:333068","icd11.foundation:1983176633"],"information_content":100.0}
{"id":"MONDO:0010855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short tarsus-absence of lower eyelashes syndrome","equivalent_identifiers":["MONDO:0010855","OMIM:600269","orphanet:2832","UMLS:C1838328","MESH:C537036","SNOMEDCT:721075001","medgen:325001"],"information_content":100.0}
{"id":"MONDO:0010856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis","equivalent_identifiers":["MONDO:0010856","OMIM:600273","orphanet:88924","UMLS:C1838327","MESH:C536328","NCIT:C177539","SNOMEDCT:765331004","medgen:325000","icd11.foundation:1781576728"],"information_content":100.0}
{"id":"MONDO:0010857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pick Complex","equivalent_identifiers":["MONDO:0010857","DOID:0081391","OMIM:600274","orphanet:100069","UMLS:C0338462","UMLS:C0520716","UMLS:C1838313","UMLS:C4476841","MESH:C563003","MESH:C563966","SNOMEDCT:230288001","SNOMEDCT:42369001","medgen:83268","HP:0030219"],"information_content":95.4}
{"id":"MONDO:0010858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocephaly-spastic paraplegia-dysmorphism syndrome","equivalent_identifiers":["MONDO:0010858","OMIM:600302","orphanet:2429","UMLS:C1838281","MESH:C563963","SNOMEDCT:716108004","medgen:373933"],"information_content":100.0}
{"id":"MONDO:0010860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 3","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0010860","DOID:0110488","OMIM:600316","UMLS:C1838263","MESH:C563961","medgen:325373"],"information_content":100.0}
{"id":"MONDO:0010863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 5","equivalent_identifiers":["MONDO:0010863","DOID:0110744","OMIM:600320","UMLS:C1838260","MESH:C563958","medgen:325371"],"information_content":100.0}
{"id":"MONDO:0010865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudoaminopterin syndrome","equivalent_identifiers":["MONDO:0010865","OMIM:600325","orphanet:221120","UMLS:C0795939","MESH:C535823","SNOMEDCT:715867000","medgen:163196","icd11.foundation:893045173"],"information_content":100.0}
{"id":"MONDO:0010866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile osteopetrosis with neuroaxonal dysplasia","equivalent_identifiers":["MONDO:0010866","DOID:0070343","OMIM:600329","orphanet:85179","UMLS:C1838258","UMLS:C4510764","MESH:C536055","SNOMEDCT:724226009","medgen:373924","icd11.foundation:1434293148"],"information_content":95.4}
{"id":"MONDO:0010867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PARC syndrome","equivalent_identifiers":["MONDO:0010867","OMIM:600331","orphanet:2825","UMLS:C1838256","MESH:C537174","SNOMEDCT:771186004","medgen:373923"],"information_content":100.0}
{"id":"MONDO:0010868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rippling muscle disease 1","equivalent_identifiers":["MONDO:0010868","DOID:0070308","OMIM:600332","UMLS:C1838254","MESH:C535686","medgen:324987"],"information_content":100.0}
{"id":"MONDO:0010870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tibial muscular dystrophy","equivalent_identifiers":["MONDO:0010870","DOID:0111078","OMIM:600334","orphanet:609","UMLS:C1450052","UMLS:C1838244","SNOMEDCT:698846009","medgen:333047"],"information_content":100.0}
{"id":"MONDO:0010871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"succinic acidemia","equivalent_identifiers":["MONDO:0010871","OMIM:600335","UMLS:C1838243","MESH:C563952","medgen:373921"],"information_content":100.0}
{"id":"MONDO:0010872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parotid salivary glands, polycystic dysgenetic disease of","equivalent_identifiers":["MONDO:0010872","OMIM:600343","UMLS:C3551133","medgen:764047"],"information_content":100.0}
{"id":"MONDO:0010873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"band heterotopia of brain","equivalent_identifiers":["MONDO:0010873","OMIM:600348","UMLS:C1838239","UMLS:C4284594","MESH:C563950","medgen:924885"],"information_content":100.0}
{"id":"MONDO:0010875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pachydermodactyly, familial","equivalent_identifiers":["MONDO:0010875","OMIM:600356","UMLS:C1838218","MESH:C563947","medgen:324974"],"information_content":100.0}
{"id":"MONDO:0010876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recessive aplasia cutis congenita of limbs","equivalent_identifiers":["MONDO:0010876","OMIM:600360","UMLS:C1838206","MESH:C536840","SNOMEDCT:723500009","medgen:324970"],"information_content":100.0}
{"id":"MONDO:0010877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 5","equivalent_identifiers":["MONDO:0010877","DOID:0080067","OMIM:600361","orphanet:64751","UMLS:C0751602","UMLS:C4721916","SNOMEDCT:737227004","SNOMEDCT:76043009","SNOMEDCT:771143004","medgen:1648461"],"information_content":100.0}
{"id":"MONDO:0010878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 6","equivalent_identifiers":["MONDO:0010878","DOID:0110811","OMIM:600363","orphanet:100988","UMLS:C1838192","MESH:C536866","SNOMEDCT:732949006","medgen:324965"],"information_content":100.0}
{"id":"MONDO:0010879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CODAS syndrome","equivalent_identifiers":["MONDO:0010879","DOID:0111274","OMIM:600373","orphanet:1458","UMLS:C1838180","MESH:C536434","NCIT:C126744","SNOMEDCT:717772000","medgen:333031"],"information_content":100.0}
{"id":"MONDO:0010880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"telangiectasia, hereditary hemorrhagic, type 2","equivalent_identifiers":["MONDO:0010880","OMIM:600376","UMLS:C1832529","UMLS:C1838163","MESH:C537139","MESH:C563358","medgen:324960"],"information_content":100.0}
{"id":"MONDO:0010881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesomelia-synostoses syndrome","equivalent_identifiers":["MONDO:0010881","OMIM:600383","orphanet:2496","UMLS:C1838162","MESH:C537348","SNOMEDCT:724147004","medgen:324959"],"information_content":100.0}
{"id":"MONDO:0010882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aphalangy-syndactyly-microcephaly syndrome","equivalent_identifiers":["MONDO:0010882","OMIM:600384","orphanet:1113","UMLS:C1838161","MESH:C563942","medgen:324958"],"information_content":100.0}
{"id":"MONDO:0010883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pectus excavatum-macrocephaly-dysplastic nails syndrome","equivalent_identifiers":["MONDO:0010883","OMIM:600399","orphanet:2835","UMLS:C1838160","UMLS:C2931302","MESH:C536728","MESH:C563941","SNOMEDCT:763863002","medgen:373902"],"information_content":100.0}
{"id":"MONDO:0010884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, scapulohumeral","equivalent_identifiers":["MONDO:0010884","OMIM:600416","UMLS:C0410192","MESH:C562932","SNOMEDCT:240074006","medgen:98373","HP:0008970"],"information_content":100.0}
{"id":"MONDO:0010885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiokeratoma corporis diffusum with arteriovenous fistulas","equivalent_identifiers":["MONDO:0010885","OMIM:600419","UMLS:C1838141","MESH:C563940","medgen:324953"],"information_content":100.0}
{"id":"MONDO:0010886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2q37 microdeletion syndrome","equivalent_identifiers":["MONDO:0010886","DOID:0111704","OMIM:600430","orphanet:1001","UMLS:C2931817","MESH:C538317","NCIT:C129021","SNOMEDCT:702357000","medgen:419169"],"information_content":100.0}
{"id":"MONDO:0010887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated anterior cervical hypertrichosis","equivalent_identifiers":["MONDO:0010887","OMIM:600457","orphanet:3387","UMLS:C1838123","MESH:C538390","SNOMEDCT:717963001","medgen:325346","HP:0004535"],"information_content":100.0}
{"id":"MONDO:0010889","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arterial dissection-lentiginosis syndrome","equivalent_identifiers":["MONDO:0010889","OMIM:600459","orphanet:1682","UMLS:C1838122","MESH:C563937","medgen:325345"],"information_content":100.0}
{"id":"MONDO:0010890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrocardiofacial syndrome","equivalent_identifiers":["MONDO:0010890","DOID:0070419","OMIM:600460","orphanet:2008","UMLS:C1838121","MESH:C563936","SNOMEDCT:890221004","medgen:324947","icd11.foundation:976844546"],"information_content":100.0}
{"id":"MONDO:0010891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal hemolytic anemia-genital anomalies syndrome","equivalent_identifiers":["MONDO:0010891","OMIM:600461","orphanet:1046","UMLS:C1838120","MESH:C563935","medgen:333019"],"information_content":100.0}
{"id":"MONDO:0010893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant hyperthermia, susceptibility to, 4","equivalent_identifiers":["MONDO:0010893","OMIM:600467","UMLS:C1838102","MESH:C535697","medgen:324944"],"information_content":100.0}
{"id":"MONDO:0010894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 3","equivalent_identifiers":["MONDO:0010894","DOID:0111102","OMIM:600496","UMLS:C1838100","MESH:C563933","NCIT:C129742","SNOMEDCT:609570008","medgen:324942"],"information_content":100.0}
{"id":"MONDO:0010895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABCD syndrome","equivalent_identifiers":["MONDO:0010895","DOID:0050600","OMIM:600501","UMLS:C1838099","MESH:C535334","medgen:333014"],"information_content":100.0}
{"id":"MONDO:0010896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pigment dispersion syndrome","equivalent_identifiers":["MONDO:0010896","DOID:0060680","OMIM:600510","UMLS:C1271398","MESH:C563184","MEDDRA:10052134","NCIT:C187288","SNOMEDCT:392133001","medgen:220866"],"information_content":100.0}
{"id":"MONDO:0010897","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 3","equivalent_identifiers":["MONDO:0010897","DOID:0070079","OMIM:600511","UMLS:C1838069","medgen:324936"],"information_content":100.0}
{"id":"MONDO:0010898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant epilepsy with auditory features","equivalent_identifiers":["MONDO:0010898","orphanet:101046","UMLS:C1838062","MESH:C537297","SNOMEDCT:784377008","medgen:325326","icd11.foundation:832717248"],"information_content":100.0}
{"id":"MONDO:0010899","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nocturnal frontal lobe epilepsy 1","equivalent_identifiers":["MONDO:0010899","DOID:0060682","OMIM:600513","UMLS:C1838049","MESH:C563930","medgen:324932"],"information_content":100.0}
{"id":"MONDO:0010900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intrauterine growth retardation with increased mitomycin c sensitivity","equivalent_identifiers":["MONDO:0010900","OMIM:600546","UMLS:C2931307","MESH:C536744","medgen:419040"],"information_content":100.0}
{"id":"MONDO:0010901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HEC syndrome","equivalent_identifiers":["MONDO:0010901","OMIM:600559","orphanet:2119","UMLS:C1833607","MESH:C535855","SNOMEDCT:721015008","medgen:331549"],"information_content":100.0}
{"id":"MONDO:0010902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia, Reardon type","equivalent_identifiers":["MONDO:0010902","OMIM:600561","orphanet:163662","UMLS:C1833603","UMLS:C4305148","MESH:C563472","SNOMEDCT:718764004","medgen:322238","icd11.foundation:1019322569"],"information_content":100.0}
{"id":"MONDO:0010903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis, Adelaide type","equivalent_identifiers":["MONDO:0010903","OMIM:600593","UMLS:C1833578","MESH:C563471","medgen:371600"],"information_content":100.0}
{"id":"MONDO:0010905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 1","equivalent_identifiers":["MONDO:0010905","DOID:0111009","OMIM:600624","UMLS:C1833564","MESH:C563469","medgen:371596"],"information_content":100.0}
{"id":"MONDO:0010906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 11","equivalent_identifiers":["MONDO:0010906","DOID:0080404","OMIM:600625","UMLS:C1833563","UMLS:C2677434","MESH:C563468","MESH:C567410","medgen:436944"],"information_content":100.0}
{"id":"MONDO:0010907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypertryptophanemia","equivalent_identifiers":["MONDO:0010907","DOID:0111703","OMIM:600627","orphanet:2224","UMLS:C2931837","MESH:C538393","MESH:C563467","SNOMEDCT:721838005","medgen:419177"],"information_content":100.0}
{"id":"MONDO:0010908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acrodynia","equivalent_identifiers":["MONDO:0010908","DOID:0111702","OMIM:600628","orphanet:168","EFO:1001756","UMLS:C0406468","MESH:D058247","MEDDRA:10085066","SNOMEDCT:238735005","medgen:98351","icd11.foundation:547259783"],"information_content":90.9}
{"id":"MONDO:0010909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"UV-sensitive syndrome 1","equivalent_identifiers":["MONDO:0010909","OMIM:600630","UMLS:C3551173","NCIT:C173106","medgen:764087"],"information_content":100.0}
{"id":"MONDO:0010910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enuresis, nocturnal, 1","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0010910","OMIM:600631"],"information_content":100.0}
{"id":"MONDO:0010911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prolactinoma","equivalent_identifiers":["MONDO:0010911","DOID:5394","OMIM:600634","orphanet:2965","EFO:1000496","UMLS:C0033375","MESH:D015175","MEDDRA:10036832","NCIT:C3342","SNOMEDCT:134209002","SNOMEDCT:34337008","medgen:10936","HP:0006767"],"information_content":89.4}
{"id":"MONDO:0010912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement","equivalent_identifiers":["MONDO:0010912","DOID:0081017","OMIM:600638","UMLS:C2748801","MESH:C567572","medgen:412638"],"information_content":100.0}
{"id":"MONDO:0010913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Caroli disease","equivalent_identifiers":["MONDO:0010913","DOID:0050876","OMIM:600643","orphanet:53035","EFO:1001286","UMLS:C0162510","UMLS:C1833541","MESH:C531647","MESH:D016767","MEDDRA:10007671","NCIT:C84619","SNOMEDCT:717232005","medgen:57924","icd11.foundation:1757434239"],"information_content":100.0}
{"id":"MONDO:0010914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carnitine palmitoyl transferase II deficiency, severe infantile form","equivalent_identifiers":["MONDO:0010914","OMIM:600649","orphanet:228305","UMLS:C1833511","MESH:C563462","medgen:322211"],"information_content":100.0}
{"id":"MONDO:0010915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 4A","equivalent_identifiers":["MONDO:0010915","DOID:0110573","OMIM:600652","UMLS:C1833503","MESH:C563460","medgen:322209"],"information_content":100.0}
{"id":"MONDO:0010916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic kidney disease 3 with or without polycystic liver disease","equivalent_identifiers":["MONDO:0010916","DOID:0110860","OMIM:600666","UMLS:C3887964","medgen:854672"],"information_content":100.0}
{"id":"MONDO:0010917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrocalcinosis 1","equivalent_identifiers":["MONDO:0010917","OMIM:600668","UMLS:C1833499","MESH:C535938","medgen:331527"],"information_content":100.0}
{"id":"MONDO:0010919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"varicella, severe recurrent","equivalent_identifiers":["MONDO:0010919","OMIM:600670","UMLS:C1833487","MESH:C563458","medgen:322202","HP:0005428"],"information_content":100.0}
{"id":"MONDO:0010920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microtia","equivalent_identifiers":["MONDO:0010920","OMIM:600674","orphanet:83463","UMLS:C0152423","UMLS:C1833486","UMLS:C3850155","MESH:C563457","MESH:D065817","MEDDRA:10027555","NCIT:C180842","SNOMEDCT:35045004","medgen:322201","icd11.foundation:2005415414","HP:0008551"],"information_content":89.4}
{"id":"MONDO:0010922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Satoyoshi syndrome","equivalent_identifiers":["MONDO:0010922","OMIM:600705","orphanet:3130","UMLS:C1833454","MESH:C536616","MEDDRA:10070579","SNOMEDCT:763630007","medgen:318882"],"information_content":100.0}
{"id":"MONDO:0010923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proximal myopathy with focal depletion of mitochondria","equivalent_identifiers":["MONDO:0010923","OMIM:600706","orphanet:521305","UMLS:C1833453","MESH:C563453","SNOMEDCT:1197756002","medgen:318881"],"information_content":100.0}
{"id":"MONDO:0010924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"D-2-hydroxyglutaric aciduria","equivalent_identifiers":["MONDO:0010924","DOID:0050575","OMIM.PS:600721","orphanet:79315","UMLS:C1833429","SNOMEDCT:237960000","medgen:322192","icd11.foundation:1170122566","HP:0012321"],"information_content":92.8}
{"id":"MONDO:0010925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"velo-facial-skeletal syndrome","equivalent_identifiers":["MONDO:0010925","OMIM:600736","orphanet:3424","UMLS:C1833380","MESH:C536536","SNOMEDCT:763616002","medgen:322177"],"information_content":100.0}
{"id":"MONDO:0010926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypocalciuric hypercalcemia 3","equivalent_identifiers":["MONDO:0010926","DOID:0060702","OMIM:600740","orphanet:101050","UMLS:C1833372","MESH:C537147","medgen:322173"],"information_content":100.0}
{"id":"MONDO:0010927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 3","equivalent_identifiers":["MONDO:0010927","DOID:0080397","OMIM:600757","UMLS:C1833369","MESH:C563448","medgen:318860"],"information_content":100.0}
{"id":"MONDO:0010929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis 4","equivalent_identifiers":["MONDO:0010929","DOID:0061012","OMIM:600775","UMLS:C1833340","UMLS:C3806917","SNOMEDCT:109417006","medgen:322167","HP:0004443"],"information_content":88.2}
{"id":"MONDO:0010930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anophthalmia plus syndrome","equivalent_identifiers":["MONDO:0010930","OMIM:600776","orphanet:1104","UMLS:C1833339","MESH:C537767","SNOMEDCT:720496006","medgen:322166"],"information_content":100.0}
{"id":"MONDO:0010931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin D-dependent rickets, type 2B","equivalent_identifiers":["MONDO:0010931","DOID:0080885","OMIM:600785","UMLS:C0342647","UMLS:C2748783","MESH:C567571","NCIT:C131076","SNOMEDCT:237895001","medgen:411667"],"information_content":100.0}
{"id":"MONDO:0010932","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive bifocal chorioretinal atrophy","equivalent_identifiers":["MONDO:0010932","OMIM:600790","orphanet:75373","UMLS:C1833321","MESH:C535356","SNOMEDCT:719266007","medgen:371537","icd11.foundation:1936121929"],"information_content":100.0}
{"id":"MONDO:0010933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 4","equivalent_identifiers":["MONDO:0010933","DOID:0110498","OMIM:600791","UMLS:C3538946","MESH:C566366","NCIT:C158787","medgen:761234"],"information_content":100.0}
{"id":"MONDO:0010936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontotemporal dementia and/or amyotrophic lateral sclerosis 7","equivalent_identifiers":["MONDO:0010936","DOID:0111227","OMIM:600795","UMLS:C1833296","MESH:C563708","MESH:C579991","SNOMEDCT:702393003","medgen:318833"],"information_content":100.0}
{"id":"MONDO:0010938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-B+ severe combined immunodeficiency due to JAK3 deficiency","equivalent_identifiers":["MONDO:0010938","OMIM:600802","orphanet:35078","UMLS:C1833275","MESH:C563440","NCIT:C176807","SNOMEDCT:718107000","medgen:331474"],"information_content":100.0}
{"id":"MONDO:0010939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"low phospholipid associated cholelithiasis","equivalent_identifiers":["MONDO:0010939","OMIM:600803","orphanet:69663","UMLS:C2609268","MEDDRA:10068936","SNOMEDCT:715577009","medgen:760527","icd11.foundation:1261516421"],"information_content":100.0}
{"id":"MONDO:0010940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited susceptibility to asthma","equivalent_identifiers":["MONDO:0010940","OMIM:600807","UMLS:C1833269","UMLS:C1833270","UMLS:C1869116","medgen:358271"],"information_content":84.8}
{"id":"MONDO:0010941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nocturnal enuresis, 2","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0010941","OMIM:600808","UMLS:C1833268","MESH:C563439","medgen:331473"],"information_content":100.0}
{"id":"MONDO:0010943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 4","equivalent_identifiers":["MONDO:0010943","DOID:0070080","OMIM:600850","UMLS:C1833247","medgen:371517"],"information_content":100.0}
{"id":"MONDO:0010945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 17","equivalent_identifiers":["MONDO:0010945","DOID:0110404","OMIM:600852","UMLS:C1833245","MESH:C563437","medgen:322153"],"information_content":100.0}
{"id":"MONDO:0010946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 6","equivalent_identifiers":["MONDO:0010946","DOID:0110312","OMIM:600858","UMLS:C1833236","MESH:C563436","NCIT:C177249","medgen:331466"],"information_content":100.0}
{"id":"MONDO:0010947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Budd-Chiari syndrome","equivalent_identifiers":["MONDO:0010947","OMIM:600880","orphanet:131","UMLS:C0856761","MESH:D006502","MEDDRA:10006536","MEDDRA:10006537","MEDDRA:10019714","MEDDRA:10042793","MEDDRA:10051567","SNOMEDCT:82385007","medgen:163632","icd11.foundation:1300118676","HP:0002639"],"information_content":100.0}
{"id":"MONDO:0010948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 10 multiple types","equivalent_identifiers":["MONDO:0010948","DOID:0110258","OMIM:600881","UMLS:C1833229","MESH:C563435","medgen:318817"],"information_content":100.0}
{"id":"MONDO:0010949","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2B","equivalent_identifiers":["MONDO:0010949","DOID:0110159","OMIM:600882","orphanet:99936","UMLS:C1833219","MESH:C537989","SNOMEDCT:717008005","medgen:371512","icd11.foundation:1425224652"],"information_content":100.0}
{"id":"MONDO:0010951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1B","equivalent_identifiers":["MONDO:0010951","DOID:0110443","OMIM:600884","UMLS:C5700078","medgen:1814491"],"information_content":100.0}
{"id":"MONDO:0010952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary hyperferritinemia with congenital cataracts","equivalent_identifiers":["MONDO:0010952","DOID:0111256","OMIM:600886","orphanet:163","UMLS:C1833213","MESH:C538137","SNOMEDCT:702398007","medgen:318812"],"information_content":100.0}
{"id":"MONDO:0010953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group E","equivalent_identifiers":["MONDO:0010953","DOID:0111084","OMIM:600901","UMLS:C3160739","NCIT:C125709","medgen:463628"],"information_content":92.8}
{"id":"MONDO:0010958","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac arrhythmia, ankyrin-B-related","equivalent_identifiers":["MONDO:0010958","DOID:0111700","DOID:0111701","OMIM:600919","UMLS:C1970119","MESH:C566996","SNOMEDCT:764457005","medgen:370181"],"information_content":100.0}
{"id":"MONDO:0010959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van den Ende-Gupta syndrome","equivalent_identifiers":["MONDO:0010959","DOID:0111699","OMIM:600920","orphanet:2460","UMLS:C1833136","MESH:C535909","SNOMEDCT:719845008","medgen:322127","icd11.foundation:1740735985"],"information_content":100.0}
{"id":"MONDO:0010961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity due to prohormone convertase I deficiency","equivalent_identifiers":["MONDO:0010961","DOID:0111698","OMIM:600955","orphanet:71528","UMLS:C1833053","UMLS:C4302878","MESH:C563423","SNOMEDCT:722053001","medgen:318777"],"information_content":100.0}
{"id":"MONDO:0010962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse nonepidermolytic palmoplantar keratoderma","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0010962","DOID:0050428","DOID:0070550","OMIM:600962","orphanet:530838","UMLS:C1833030","UMLS:C4274840","UMLS:C5680142","MESH:C563422","SNOMEDCT:1222645005","SNOMEDCT:716105001","medgen:371463","HP:0007404"],"information_content":100.0}
{"id":"MONDO:0010963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 6","equivalent_identifiers":["MONDO:0010963","DOID:0110584","OMIM:600965","UMLS:C1833021","MESH:C563421","medgen:331419"],"information_content":100.0}
{"id":"MONDO:0010964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiphyseal dysplasia, multiple, 3","equivalent_identifiers":["MONDO:0010964","DOID:0070304","OMIM:600969","UMLS:C1832998","UMLS:C3152083","MESH:C535503","medgen:322091"],"information_content":100.0}
{"id":"MONDO:0010965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 6","equivalent_identifiers":["MONDO:0010965","DOID:0110512","OMIM:600971","UMLS:C1832992","MESH:C563418","medgen:322088"],"information_content":100.0}
{"id":"MONDO:0010966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achondrogenesis type IB","equivalent_identifiers":["MONDO:0010966","DOID:0080055","OMIM:600972","orphanet:93298","UMLS:C0265274","MESH:C536016","SNOMEDCT:14870002","medgen:78547"],"information_content":100.0}
{"id":"MONDO:0010967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 7","equivalent_identifiers":["MONDO:0010967","DOID:0110520","OMIM:600974","UMLS:C1832978","MESH:C563417","medgen:322084"],"information_content":100.0}
{"id":"MONDO:0010968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma 3, primary infantile, B","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0010968","OMIM:600975","UMLS:C1832977","MESH:C536824","medgen:331409"],"information_content":100.0}
{"id":"MONDO:0010969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 5","equivalent_identifiers":["MONDO:0010969","DOID:0111010","OMIM:600977","UMLS:C1832976","MESH:C563415","medgen:322083"],"information_content":100.0}
{"id":"MONDO:0010970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies","equivalent_identifiers":["MONDO:0010970","DOID:0111697","OMIM:600987","UMLS:C1832950","MESH:C563414","medgen:318752"],"information_content":100.0}
{"id":"MONDO:0010971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infundibulopelvic stenosis-multicystic kidney syndrome","equivalent_identifiers":["MONDO:0010971","OMIM:600989","UMLS:C1832949","MESH:C535528","SNOMEDCT:725905005","medgen:318751"],"information_content":100.0}
{"id":"MONDO:0010972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome","equivalent_identifiers":["MONDO:0010972","OMIM:600991","orphanet:2180","UMLS:C2931197","UMLS:C3551260","MESH:C536461","SNOMEDCT:721229003","medgen:764174"],"information_content":100.0}
{"id":"MONDO:0010973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 5","equivalent_identifiers":["MONDO:0010973","DOID:0110575","OMIM:600994","UMLS:C1832932","MESH:C563410","medgen:331398"],"information_content":100.0}
{"id":"MONDO:0010974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 2","equivalent_identifiers":["MONDO:0010974","DOID:0080379","OMIM:600995","UMLS:C1868672","MESH:C536404","SNOMEDCT:1260194003","medgen:358380"],"information_content":100.0}
{"id":"MONDO:0010976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive","equivalent_identifiers":["MONDO:0010976","OMIM:601001","orphanet:89838","UMLS:C1832926","UMLS:C3715082","MESH:C563408","SNOMEDCT:1156849001","medgen:811576"],"information_content":100.0}
{"id":"MONDO:0010977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brody myopathy","equivalent_identifiers":["MONDO:0010977","DOID:0050692","OMIM:601003","orphanet:53347","UMLS:C1832918","MESH:C536607","SNOMEDCT:703530005","medgen:371441"],"information_content":100.0}
{"id":"MONDO:0010978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"portal vein, cavernous transformation of","equivalent_identifiers":["MONDO:0010978","OMIM:601004","UMLS:C1832917","MESH:C563407","MEDDRA:10073979","medgen:331396"],"information_content":100.0}
{"id":"MONDO:0010979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Timothy syndrome","equivalent_identifiers":["MONDO:0010979","DOID:0060173","OMIM:601005","orphanet:65283","UMLS:C1832916","MESH:C536962","MEDDRA:10079205","NCIT:C142894","SNOMEDCT:1230096008","medgen:331395","ICD10:G72.3"],"information_content":89.4}
{"id":"MONDO:0010983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 9","equivalent_identifiers":["MONDO:0010983","DOID:0090044","OMIM:601042","orphanet:53583","UMLS:C1832855","MESH:C563401","SNOMEDCT:715564000","medgen:371427"],"information_content":100.0}
{"id":"MONDO:0010984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 1D","equivalent_identifiers":["MONDO:0010984","DOID:0110831","OMIM:601067","UMLS:C1832845","UMLS:C3152102","MESH:C563400","medgen:322051"],"information_content":100.0}
{"id":"MONDO:0010985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial adult myoclonic, 1","equivalent_identifiers":["MONDO:0010985","DOID:0111690","OMIM:601068","UMLS:C1832841","MESH:C563399","medgen:371424"],"information_content":100.0}
{"id":"MONDO:0010986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 9","equivalent_identifiers":["MONDO:0010986","DOID:0110535","OMIM:601071","UMLS:C1832828","UMLS:C1832830","MESH:C563396","MESH:C563398","medgen:331376"],"information_content":100.0}
{"id":"MONDO:0010987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 8","equivalent_identifiers":["MONDO:0010987","DOID:0110527","OMIM:601072","UMLS:C1832827","UMLS:C1854414","MESH:C563395","MESH:C565341","medgen:322046"],"information_content":100.0}
{"id":"MONDO:0010988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aplasia cutis-myopia syndrome","equivalent_identifiers":["MONDO:0010988","OMIM:601075","orphanet:1117","UMLS:C1832826","UMLS:C4304032","MESH:C563394","SNOMEDCT:720499004","medgen:331375"],"information_content":100.0}
{"id":"MONDO:0010989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mayer-Rokitansky-Küster-Hauser syndrome type 2","equivalent_identifiers":["MONDO:0010989","DOID:0112179","OMIM:601076","orphanet:2578","UMLS:C4305568","SNOMEDCT:717705004","medgen:931237","icd11.foundation:1521808255"],"information_content":100.0}
{"id":"MONDO:0010991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laterality defects, autosomal dominant","equivalent_identifiers":["MONDO:0010991","OMIM:601086","UMLS:C1832813","MESH:C563391","medgen:322042"],"information_content":100.0}
{"id":"MONDO:0010992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ayme-Gripp syndrome","equivalent_identifiers":["MONDO:0010992","DOID:0111688","OMIM:601088","EFO:0009020","UMLS:C1832812","MESH:C563390","medgen:371416"],"information_content":100.0}
{"id":"MONDO:0010993","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Harrod syndrome","equivalent_identifiers":["MONDO:0010993","OMIM:601095","orphanet:2115","UMLS:C0795970","MESH:C535635","SNOMEDCT:716089008","medgen:162895"],"information_content":100.0}
{"id":"MONDO:0010995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 1C","equivalent_identifiers":["MONDO:0010995","DOID:0110151","OMIM:601098","orphanet:101083","UMLS:C0270913","MESH:C537984","SNOMEDCT:4183003","medgen:75728","icd11.foundation:1224517226"],"information_content":100.0}
{"id":"MONDO:0010997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"supranuclear palsy, progressive, 1","equivalent_identifiers":["MONDO:0010997","OMIM:601104","orphanet:240071","UMLS:C4551863","medgen:1640811"],"information_content":100.0}
{"id":"MONDO:0010998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALG3-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0010998","DOID:0080556","OMIM:601110","orphanet:79321","UMLS:C1832736","MESH:C535742","NCIT:C126870","SNOMEDCT:720976009","medgen:322026"],"information_content":100.0}
{"id":"MONDO:0010999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fallot complex-intellectual disability-growth delay syndrome","equivalent_identifiers":["MONDO:0010999","OMIM:601127","orphanet:3304","UMLS:C1832735","MESH:C536608","SNOMEDCT:723336008","medgen:322025"],"information_content":100.0}
{"id":"MONDO:0011001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 1","equivalent_identifiers":["MONDO:0011001","DOID:0110218","OMIM:601144","UMLS:C4551804","medgen:1646402"],"information_content":100.0}
{"id":"MONDO:0011002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary motor and sensory, type 6A","equivalent_identifiers":["MONDO:0011002","OMIM:601152"],"information_content":100.0}
{"id":"MONDO:0011003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1E","equivalent_identifiers":["MONDO:0011003","DOID:0110433","OMIM:601154","UMLS:C1832680","MESH:C563384","medgen:331341"],"information_content":100.0}
{"id":"MONDO:0011004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly type 3-metacarpal bone dysplasia syndrome","equivalent_identifiers":["MONDO:0011004","OMIM:601160","orphanet:86822","UMLS:C1832678","UMLS:C4305254","MESH:C563383","SNOMEDCT:718720007","medgen:371379"],"information_content":100.0}
{"id":"MONDO:0011006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 9A","equivalent_identifiers":["MONDO:0011006","DOID:0110824","OMIM:601162","orphanet:447753","UMLS:C5568978","MESH:C536868","SNOMEDCT:1187465008","medgen:1800401"],"information_content":100.0}
{"id":"MONDO:0011007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diaphragmatic defect-limb deficiency-skull defect syndrome","equivalent_identifiers":["MONDO:0011007","OMIM:601163","orphanet:2141","UMLS:C1832668","UMLS:C4303589","MESH:C563380","SNOMEDCT:721095007","medgen:371377"],"information_content":100.0}
{"id":"MONDO:0011008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft lip/palate-intestinal malrotation-cardiopathy syndrome","equivalent_identifiers":["MONDO:0011008","OMIM:601165","orphanet:2001","UMLS:C2931750","MESH:C538160","SNOMEDCT:719456001","medgen:444135"],"information_content":100.0}
{"id":"MONDO:0011010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Matthew-Wood syndrome","equivalent_identifiers":["MONDO:0011010","DOID:0111807","OMIM:601186","orphanet:2470","UMLS:C1832661","MESH:C537768","SNOMEDCT:722458000","medgen:318679"],"information_content":100.0}
{"id":"MONDO:0011011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal dysplasia-epilepsy-short stature syndrome","equivalent_identifiers":["MONDO:0011011","OMIM:601187","orphanet:1858","UMLS:C0796046","MESH:C537625","SNOMEDCT:715428003","medgen:208660"],"information_content":100.0}
{"id":"MONDO:0011012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bantu siderosis","equivalent_identifiers":["MONDO:0011012","DOID:0111033","OMIM:601195","orphanet:139507","UMLS:C0268063","MESH:C537904","MEDDRA:10083876","MEDDRA:10083888","SNOMEDCT:66576001","medgen:75649","icd11.foundation:869212237"],"information_content":100.0}
{"id":"MONDO:0011013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant hypocalcemia 1","equivalent_identifiers":["MONDO:0011013","DOID:0090107","OMIM:601198","UMLS:C0342345","UMLS:C4552089","MESH:C562783","NCIT:C129730","medgen:87438"],"information_content":100.0}
{"id":"MONDO:0011014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleuropulmonary blastoma","equivalent_identifiers":["MONDO:0011014","DOID:4769","OMIM:601200","orphanet:64742","EFO:0009052","MESH:C537516","NCIT:C5669","medgen:266105"],"information_content":89.4}
{"id":"MONDO:0011015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 24","equivalent_identifiers":["MONDO:0011015","DOID:0110257","OMIM:601202","UMLS:C1832609","MESH:C537774","medgen:371364"],"information_content":100.0}
{"id":"MONDO:0011017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Naxos disease","equivalent_identifiers":["MONDO:0011017","DOID:0080551","OMIM:601214","orphanet:34217","UMLS:C1832600","MESH:C538346","SNOMEDCT:715535009","medgen:321991","icd11.foundation:633516876"],"information_content":100.0}
{"id":"MONDO:0011018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachyolmia-amelogenesis imperfecta syndrome","equivalent_identifiers":["MONDO:0011018","DOID:0090143","OMIM:601216","orphanet:2899","UMLS:C1832594","MESH:C536538","MEDDRA:10081838","SNOMEDCT:716195006","medgen:318659","ICD10:Q76.3"],"information_content":100.0}
{"id":"MONDO:0011019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome","equivalent_identifiers":["MONDO:0011019","OMIM:601217","orphanet:1014","UMLS:C1832593","UMLS:C4303740","MESH:C563370","SNOMEDCT:720981000","medgen:321990"],"information_content":100.0}
{"id":"MONDO:0011020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoporosis-oculocutaneous hypopigmentation syndrome","equivalent_identifiers":["MONDO:0011020","OMIM:601220","orphanet:2786","UMLS:C1832592","MESH:C536062","SNOMEDCT:722113001","medgen:331321"],"information_content":100.0}
{"id":"MONDO:0011021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal intestinal dysplasia, type B","equivalent_identifiers":["MONDO:0011021","DOID:0080680","OMIM:601223","UMLS:C1832589","medgen:318658"],"information_content":100.0}
{"id":"MONDO:0011022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Potocki-Shaffer syndrome","equivalent_identifiers":["MONDO:0011022","DOID:0111687","OMIM:601224","orphanet:52022","UMLS:C1832588","MESH:C538356","NCIT:C75456","SNOMEDCT:702346005","medgen:318657","icd11.foundation:1587521558"],"information_content":100.0}
{"id":"MONDO:0011024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatitis herpetiformis, familial","equivalent_identifiers":["MONDO:0011024","OMIM:601230","UMLS:C1832586","MESH:C538218","medgen:371361"],"information_content":100.0}
{"id":"MONDO:0011025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cayman type cerebellar ataxia","equivalent_identifiers":["MONDO:0011025","DOID:0060694","OMIM:601238","orphanet:94122","UMLS:C1832585","MESH:C563363","SNOMEDCT:717332007","medgen:331319","ICD10:G11.0"],"information_content":100.0}
{"id":"MONDO:0011026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis 4A","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0011026","DOID:0060712","OMIM:601277","UMLS:C1832550","MESH:C537264","medgen:371355"],"information_content":95.4}
{"id":"MONDO:0011027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus, noninsulin-dependent, 1","equivalent_identifiers":["MONDO:0011027","OMIM:601283","UMLS:C1832544","MESH:C563359","medgen:321979"],"information_content":100.0}
{"id":"MONDO:0011028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2F","equivalent_identifiers":["MONDO:0011028","DOID:0110280","OMIM:601287","orphanet:219","UMLS:C1832525","MESH:C535896","SNOMEDCT:718177001","medgen:331308"],"information_content":100.0}
{"id":"MONDO:0011031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 10","equivalent_identifiers":["MONDO:0011031","DOID:0110542","OMIM:601316","UMLS:C1832476","MESH:C563354","medgen:321966"],"information_content":100.0}
{"id":"MONDO:0011032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 11","equivalent_identifiers":["MONDO:0011032","DOID:0110543","OMIM:601317","UMLS:C1832475","MESH:C563353","medgen:331297"],"information_content":100.0}
{"id":"MONDO:0011034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontomicronychial dysplasia","equivalent_identifiers":["MONDO:0011034","OMIM:601319","orphanet:1811","UMLS:C1832473","MESH:C537741","medgen:371336"],"information_content":100.0}
{"id":"MONDO:0011036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porencephaly-cerebellar hypoplasia-internal malformations syndrome","equivalent_identifiers":["MONDO:0011036","OMIM:601322","orphanet:2941","UMLS:C0796119","UMLS:C1832472","MESH:C536336","SNOMEDCT:763821001","medgen:331296"],"information_content":100.0}
{"id":"MONDO:0011037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal dysplasia, cystic, susceptibility to","equivalent_identifiers":["MONDO:0011037","DOID:0111682","OMIM:601331","UMLS:C1832471","UMLS:C3275898","MESH:C537755","medgen:477529"],"information_content":100.0}
{"id":"MONDO:0011038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAPOS syndrome","equivalent_identifiers":["MONDO:0011038","OMIM:601338","orphanet:1171","UMLS:C1832466","MESH:C535351","SNOMEDCT:720634003","medgen:318633"],"information_content":100.0}
{"id":"MONDO:0011039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrophia maculosa varioliformis cutis, familial","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0011039","OMIM:601341","UMLS:C1832465","MESH:C563349","medgen:371334"],"information_content":100.0}
{"id":"MONDO:0011040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal dysplasia, Anhalt type","equivalent_identifiers":["MONDO:0011040","OMIM:601344","UMLS:C1832464","MESH:C563348","medgen:318632"],"information_content":100.0}
{"id":"MONDO:0011041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia with natal teeth, Turnpenny type","equivalent_identifiers":["MONDO:0011041","OMIM:601345","orphanet:69083","UMLS:C1832444","MESH:C563347","SNOMEDCT:715576000","medgen:371331","icd11.foundation:612149960"],"information_content":100.0}
{"id":"MONDO:0011042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Martinez-Frias syndrome","equivalent_identifiers":["MONDO:0011042","OMIM:601346","UMLS:C1832443","MESH:C563346","medgen:318628"],"information_content":100.0}
{"id":"MONDO:0011045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MMEP syndrome","equivalent_identifiers":["MONDO:0011045","DOID:0111803","OMIM:601349","orphanet:3434","UMLS:C1832440","MESH:C537686","SNOMEDCT:715533002","medgen:330469"],"information_content":100.0}
{"id":"MONDO:0011046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature, Brussels type","equivalent_identifiers":["MONDO:0011046","OMIM:601350","orphanet:2867","UMLS:C1832439","MESH:C537121","SNOMEDCT:719213009","medgen:318625","icd11.foundation:251068104"],"information_content":100.0}
{"id":"MONDO:0011047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-epiphyseal dysplasia-short stature syndrome","equivalent_identifiers":["MONDO:0011047","OMIM:601351","orphanet:3218","UMLS:C1832438","MESH:C535928","SNOMEDCT:716238003","medgen:371330"],"information_content":100.0}
{"id":"MONDO:0011048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy-microcephaly-skeletal dysplasia syndrome","equivalent_identifiers":["MONDO:0011048","OMIM:601352","orphanet:1948","UMLS:C1832437","MESH:C563342","medgen:330468"],"information_content":100.0}
{"id":"MONDO:0011049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fine-Lubinsky syndrome","equivalent_identifiers":["MONDO:0011049","OMIM:601353","orphanet:1272","UMLS:C0795941","MESH:C537933","SNOMEDCT:720955004","medgen:163198"],"information_content":100.0}
{"id":"MONDO:0011050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-cardiac defect-lung malsegmentation syndrome","equivalent_identifiers":["MONDO:0011050","OMIM:601355","orphanet:2516","UMLS:C1832436","UMLS:C2931129","MESH:C536205","MESH:C563341","SNOMEDCT:719379001","medgen:371329"],"information_content":100.0}
{"id":"MONDO:0011051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal short-limb skeletal dysplasia, Al Gazali type","equivalent_identifiers":["MONDO:0011051","OMIM:601356","orphanet:646136","UMLS:C1832435","MESH:C537598","medgen:330467"],"information_content":100.0}
{"id":"MONDO:0011052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelia cleft lip palate hydrocephalus iris coloboma","equivalent_identifiers":["MONDO:0011052","OMIM:601357","UMLS:C1832434","MESH:C536713","medgen:321957"],"information_content":100.0}
{"id":"MONDO:0011053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-sparse hair-brachydactyly syndrome","equivalent_identifiers":["MONDO:0011053","DOID:0081441","OMIM:601358","orphanet:3051","UMLS:C1303073","MESH:C536116","SNOMEDCT:401046009","medgen:220983"],"information_content":100.0}
{"id":"MONDO:0011054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive amelia","equivalent_identifiers":["MONDO:0011054","OMIM:601360","UMLS:C1832432","MESH:C563338","SNOMEDCT:726735000","medgen:321955"],"information_content":100.0}
{"id":"MONDO:0011055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 10p","equivalent_identifiers":["MONDO:0011055","orphanet:1580","UMLS:C1832431","UMLS:C4304502","MESH:C563337","SNOMEDCT:719686003","medgen:321954"],"information_content":95.4}
{"id":"MONDO:0011056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilms tumor 4","equivalent_identifiers":["MONDO:0011056","OMIM:601363","UMLS:C1832426","MESH:C563336","medgen:318623"],"information_content":100.0}
{"id":"MONDO:0011058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 9","equivalent_identifiers":["MONDO:0011058","DOID:0110593","OMIM:601369","UMLS:C1832425","MESH:C563335","medgen:371327"],"information_content":100.0}
{"id":"MONDO:0011059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Genoa syndrome","equivalent_identifiers":["MONDO:0011059","OMIM:601370","orphanet:2163","UMLS:C1832424","MESH:C537684","SNOMEDCT:715434005","medgen:330464"],"information_content":100.0}
{"id":"MONDO:0011060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset non-syndromic cataract","equivalent_identifiers":["MONDO:0011060","OMIM:601371","orphanet:91492","UMLS:C1832423","medgen:371326","icd11.foundation:1080602978","HP:0011142"],"information_content":74.5}
{"id":"MONDO:0011062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aprosencephaly cerebellar dysgenesis","equivalent_identifiers":["MONDO:0011062","OMIM:601374","orphanet:1126","UMLS:C1832412","MESH:C563331","SNOMEDCT:1237366005","medgen:330459"],"information_content":100.0}
{"id":"MONDO:0011063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hidrotic ectodermal dysplasia, Christianson-Fourie type","equivalent_identifiers":["MONDO:0011063","OMIM:601375","orphanet:1808","UMLS:C1832411","MESH:C536180","SNOMEDCT:771239007","medgen:371322","icd11.foundation:661397711"],"information_content":100.0}
{"id":"MONDO:0011065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hunter-McAlpine craniosynostosis","equivalent_identifiers":["MONDO:0011065","OMIM:601379","orphanet:97340","UMLS:C1832408","MESH:C536072","SNOMEDCT:721227001","medgen:321949","icd11.foundation:1445975694"],"information_content":100.0}
{"id":"MONDO:0011066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4B1","equivalent_identifiers":["MONDO:0011066","DOID:0110191","OMIM:601382","orphanet:99955","UMLS:C1832399","MESH:C535420","SNOMEDCT:715803003","medgen:321947","icd11.foundation:776238355"],"information_content":100.0}
{"id":"MONDO:0011067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 12","equivalent_identifiers":["MONDO:0011067","DOID:0110467","OMIM:601386","UMLS:C1832394","MESH:C563327","NCIT:C201586","medgen:330455"],"information_content":100.0}
{"id":"MONDO:0011068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 12","equivalent_identifiers":["MONDO:0011068","DOID:0110751","OMIM:601388","UMLS:C1832392","MESH:C563326","medgen:318618"],"information_content":100.0}
{"id":"MONDO:0011069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction","equivalent_identifiers":["MONDO:0011069","OMIM:601389","UMLS:C1832391","MESH:C538072","medgen:318617"],"information_content":100.0}
{"id":"MONDO:0011070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van Maldergem syndrome 1","equivalent_identifiers":["MONDO:0011070","DOID:0080585","OMIM:601390","UMLS:C4551950","NCIT:C188993","medgen:1644627"],"information_content":100.0}
{"id":"MONDO:0011073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus, transient neonatal, 1","equivalent_identifiers":["MONDO:0011073","OMIM:601410","orphanet:99886","UMLS:C1832386","MESH:C563322","NCIT:C131846","SNOMEDCT:609579009","medgen:371317"],"information_content":100.0}
{"id":"MONDO:0011074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 7","equivalent_identifiers":["MONDO:0011074","DOID:0110591","OMIM:601412","UMLS:C1832379","MESH:C563321","medgen:318614"],"information_content":100.0}
{"id":"MONDO:0011075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 18","equivalent_identifiers":["MONDO:0011075","DOID:0110356","OMIM:601414","UMLS:C1832378","MESH:C563320","medgen:371314"],"information_content":100.0}
{"id":"MONDO:0011076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy 1","equivalent_identifiers":["MONDO:0011076","DOID:0080092","OMIM:601419","orphanet:98909","UMLS:C1832370","MESH:C563319","SNOMEDCT:770627003","medgen:330449"],"information_content":100.0}
{"id":"MONDO:0011078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis","equivalent_identifiers":["MONDO:0011078","OMIM:601427","orphanet:2321","UMLS:C1832362","MESH:C537694","medgen:316973"],"information_content":100.0}
{"id":"MONDO:0011079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhizomelic dysplasia, Patterson-Lowry type","equivalent_identifiers":["MONDO:0011079","OMIM:601438","orphanet:2831","UMLS:C1832359","MESH:C537609","SNOMEDCT:715505002","medgen:321940","icd11.foundation:1681747199"],"information_content":100.0}
{"id":"MONDO:0011080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive deafness with stapes fixation","equivalent_identifiers":["MONDO:0011080","OMIM:601449","orphanet:3235","UMLS:C1832354","MESH:C563316","SNOMEDCT:715529009","medgen:330446","icd11.foundation:1909954882"],"information_content":100.0}
{"id":"MONDO:0011081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dislocation of the hip-dysmorphism syndrome","equivalent_identifiers":["MONDO:0011081","OMIM:601450","orphanet:2412","UMLS:C1832353","UMLS:C4706570","MESH:C563315","SNOMEDCT:763755009","medgen:316970"],"information_content":100.0}
{"id":"MONDO:0011082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculoauriculofrontonasal syndrome","equivalent_identifiers":["MONDO:0011082","OMIM:601452","orphanet:398156","UMLS:C1832352","MESH:C537865","SNOMEDCT:782783009","medgen:316969"],"information_content":100.0}
{"id":"MONDO:0011083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichodental syndrome","equivalent_identifiers":["MONDO:0011083","OMIM:601453","orphanet:3351","UMLS:C0406724","MESH:C536551","SNOMEDCT:277810000","medgen:96068","icd11.foundation:944650339"],"information_content":100.0}
{"id":"MONDO:0011085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4D","equivalent_identifiers":["MONDO:0011085","DOID:0110186","OMIM:601455","orphanet:99950","UMLS:C1832334","MESH:C535716","SNOMEDCT:715798007","medgen:371304","icd11.foundation:616686295"],"information_content":100.0}
{"id":"MONDO:0011086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive","equivalent_identifiers":["MONDO:0011086","DOID:0090013","OMIM:601457","orphanet:331206","UMLS:C1832322","MESH:C563311","medgen:321935"],"information_content":100.0}
{"id":"MONDO:0011088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 1A","equivalent_identifiers":["MONDO:0011088","DOID:0110663","OMIM:601462","UMLS:C2931107","UMLS:C4084823","MESH:C536091","medgen:419336"],"information_content":95.4}
{"id":"MONDO:0011089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patent ductus venosus","equivalent_identifiers":["MONDO:0011089","OMIM:601466","UMLS:C0344688","MESH:C562830","SNOMEDCT:253330006","medgen:91033","HP:0012022"],"information_content":100.0}
{"id":"MONDO:0011091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2D","equivalent_identifiers":["MONDO:0011091","DOID:0110164","OMIM:601472","orphanet:99938","UMLS:C1832274","MESH:C537993","NCIT:C122659","SNOMEDCT:717011006","medgen:316946","icd11.foundation:1617529678"],"information_content":100.0}
{"id":"MONDO:0011092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ribbing disease","equivalent_identifiers":["MONDO:0011092","OMIM:601477","UMLS:C1832273","MESH:C537613","medgen:321923"],"information_content":100.0}
{"id":"MONDO:0011093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 9","equivalent_identifiers":["MONDO:0011093","DOID:0050809","OMIM:601492","orphanet:67041","UMLS:C1291490","MESH:C563209","NCIT:C129073","SNOMEDCT:124473006","medgen:226942","icd11.foundation:952591271"],"information_content":100.0}
{"id":"MONDO:0011094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1C","equivalent_identifiers":["MONDO:0011094","DOID:0110423","DOID:0110452","OMIM:601493","UMLS:C1832244","UMLS:C3152137","UMLS:C4225414","MESH:C563307","NCIT:C170436","medgen:316944","ICD10:I42.0"],"information_content":100.0}
{"id":"MONDO:0011095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1D","equivalent_identifiers":["MONDO:0011095","DOID:0110426","OMIM:601494","UMLS:C1832243","MESH:C563306","NCIT:C198599","medgen:316943"],"information_content":100.0}
{"id":"MONDO:0011096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal agammaglobulinemia","equivalent_identifiers":["MONDO:0011096","orphanet:33110","UMLS:C1832241","MESH:C538056","medgen:316941"],"information_content":85.5}
{"id":"MONDO:0011097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Axenfeld-Rieger syndrome type 2","equivalent_identifiers":["MONDO:0011097","DOID:0110121","OMIM:601499","UMLS:C1832229","MESH:C535680","medgen:316937"],"information_content":100.0}
{"id":"MONDO:0011098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate cancer, hereditary, 1","equivalent_identifiers":["MONDO:0011098","OMIM:601518","UMLS:C4722327","medgen:1648436"],"information_content":100.0}
{"id":"MONDO:0011099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"human HOXA1 syndromes","equivalent_identifiers":["MONDO:0011099","DOID:0050682","OMIM:601536","orphanet:69739","UMLS:C1832215","MESH:C535397","SNOMEDCT:720518006","medgen:330410"],"information_content":95.4}
{"id":"MONDO:0011101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroxisome biogenesis disorder 1B","equivalent_identifiers":["MONDO:0011101","DOID:0050444","DOID:0081240","OMIM:601539","UMLS:C0282527","UMLS:C4723746","MESH:D052919","NCIT:C155749","NCIT:C84789","SNOMEDCT:238062008","medgen:79470","ICD10:G60.1"],"information_content":100.0}
{"id":"MONDO:0011102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 12","equivalent_identifiers":["MONDO:0011102","DOID:0110544","OMIM:601543","UMLS:C1832187","MESH:C563295","medgen:321902"],"information_content":100.0}
{"id":"MONDO:0011103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 3A","equivalent_identifiers":["MONDO:0011103","DOID:0110564","OMIM:601544","UMLS:C2675750","MESH:C567277","medgen:436512"],"information_content":100.0}
{"id":"MONDO:0011104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 3 multiple types","equivalent_identifiers":["MONDO:0011104","DOID:0110269","OMIM:601547","UMLS:C1832175","MESH:C563294","medgen:321901"],"information_content":100.0}
{"id":"MONDO:0011105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alacrima, congenital, autosomal recessive","equivalent_identifiers":["MONDO:0011105","OMIM:601549","UMLS:C4012597","medgen:861034"],"information_content":100.0}
{"id":"MONDO:0011106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome","equivalent_identifiers":["MONDO:0011106","OMIM:601552","orphanet:412022","UMLS:C1832167","MESH:C563293","SNOMEDCT:770728003","medgen:330396"],"information_content":100.0}
{"id":"MONDO:0011107","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital hypotrichosis with juvenile macular dystrophy","equivalent_identifiers":["MONDO:0011107","DOID:0110711","OMIM:601553","orphanet:1573","UMLS:C1832162","MESH:C537698","medgen:316921"],"information_content":100.0}
{"id":"MONDO:0011109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia, Lowry type","equivalent_identifiers":["MONDO:0011109","OMIM:601560","orphanet:166016","UMLS:C1832112","MESH:C563291","SNOMEDCT:768935003","medgen:321890"],"information_content":100.0}
{"id":"MONDO:0011112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilms tumor 5","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0011112","OMIM:601583","UMLS:C1832099","MESH:C536707","medgen:316905"],"information_content":100.0}
{"id":"MONDO:0011113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4C","equivalent_identifiers":["MONDO:0011113","DOID:0110183","OMIM:601596","orphanet:99949","UMLS:C1866636","MESH:C535423","NCIT:C129864","SNOMEDCT:715797002","medgen:356581","icd11.foundation:382219984"],"information_content":100.0}
{"id":"MONDO:0011115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia and Evans syndrome","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0011115","OMIM:601608","UMLS:C1866619","MESH:C566652","medgen:355764"],"information_content":100.0}
{"id":"MONDO:0011116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung agenesis-heart defect-thumb anomalies syndrome","equivalent_identifiers":["MONDO:0011116","OMIM:601612","orphanet:1120","UMLS:C2930988","UMLS:C3275954","UMLS:C4302918","MESH:C535708","SNOMEDCT:721976003","medgen:477585"],"information_content":100.0}
{"id":"MONDO:0011117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iris pigment epithelium anomalies","equivalent_identifiers":["MONDO:0011117","OMIM:601616","UMLS:C1866608","MESH:C566651","medgen:357091"],"information_content":100.0}
{"id":"MONDO:0011120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neural tube defects, folate-sensitive","equivalent_identifiers":["MONDO:0011120","OMIM:601634","UMLS:C1866558","UMLS:C1866559","MESH:C536409","MESH:C566648","medgen:355746"],"information_content":100.0}
{"id":"MONDO:0011121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paragangliomas 2","equivalent_identifiers":["MONDO:0011121","OMIM:601650","UMLS:C1866552","MESH:C566646","medgen:357076"],"information_content":100.0}
{"id":"MONDO:0011122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity","equivalent_identifiers":["MONDO:0011122","DOID:9970","EFO:0001073","UMLS:C0028754","UMLS:C1563743","MESH:D009765","MESH:D050154","MEDDRA:10001293","MEDDRA:10029883","MEDDRA:10029885","MEDDRA:10051361","NCIT:C159658","NCIT:C3283","SNOMEDCT:414915002","SNOMEDCT:414916001","medgen:18127","ICD10:E66.9","ICD9:278.00","HP:0001513"],"information_content":75.8}
{"id":"MONDO:0011123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 15","equivalent_identifiers":["MONDO:0011123","DOID:0110753","OMIM:601666","UMLS:C1866519","MESH:C566645","medgen:401019"],"information_content":100.0}
{"id":"MONDO:0011125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichothiodystrophy 1, photosensitive","equivalent_identifiers":["MONDO:0011125","DOID:0111873","OMIM:601675","UMLS:C1866504","UMLS:C1866505","MESH:C566643","NCIT:C156433","medgen:355730"],"information_content":100.0}
{"id":"MONDO:0011128","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sheldon-hall syndrome","equivalent_identifiers":["MONDO:0011128","DOID:0111599","orphanet:1147","UMLS:C1834523","MESH:C538400","SNOMEDCT:715216008","medgen:320374","icd11.foundation:1206883656"],"information_content":90.9}
{"id":"MONDO:0011129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma type 1C","equivalent_identifiers":["MONDO:0011129","OMIM:601682","UMLS:C1866483","MESH:C566641","medgen:356544"],"information_content":100.0}
{"id":"MONDO:0011130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sebaceous gland hyperplasia, familial presenile","equivalent_identifiers":["MONDO:0011130","OMIM:601700","UMLS:C1866428","MESH:C537530","medgen:356529"],"information_content":100.0}
{"id":"MONDO:0011131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tricho-oculo-dermo-vertebral syndrome","equivalent_identifiers":["MONDO:0011131","OMIM:601701","UMLS:C1866427","MESH:C537441","medgen:355714","icd11.foundation:1206025469"],"information_content":100.0}
{"id":"MONDO:0011132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-cell immunodeficiency, congenital alopecia, and nail dystrophy","equivalent_identifiers":["MONDO:0011132","DOID:0060769","OMIM:601705","orphanet:169095","UMLS:C1866426","MESH:C536781","SNOMEDCT:720345008","medgen:355713"],"information_content":100.0}
{"id":"MONDO:0011133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deaf blind hypopigmentation syndrome, Yemenite type","equivalent_identifiers":["MONDO:0011133","OMIM:601706","orphanet:3214","UMLS:C1866425","MESH:C536771","SNOMEDCT:721084001","medgen:355712","icd11.foundation:2090985024"],"information_content":100.0}
{"id":"MONDO:0011134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Curry-Jones syndrome","equivalent_identifiers":["MONDO:0011134","OMIM:601707","orphanet:1553","UMLS:C0795915","MESH:C536735","SNOMEDCT:720819006","medgen:167083"],"information_content":100.0}
{"id":"MONDO:0011135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"superior transverse scapular ligament, calcification of, familial","equivalent_identifiers":["MONDO:0011135","OMIM:601708","UMLS:C1866424","MESH:C566638","medgen:355711"],"information_content":100.0}
{"id":"MONDO:0011136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Quebec platelet disorder","equivalent_identifiers":["MONDO:0011136","DOID:0111050","OMIM:601709","orphanet:220436","UMLS:C1866423","MESH:C536260","medgen:356528","icd11.foundation:1618741944"],"information_content":100.0}
{"id":"MONDO:0011137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 19","equivalent_identifiers":["MONDO:0011137","DOID:0110354","OMIM:601718","UMLS:C1866422","MESH:C566637","medgen:400996"],"information_content":100.0}
{"id":"MONDO:0011138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic lupus erythematosus, susceptibility to, 1","equivalent_identifiers":["MONDO:0011138","OMIM:601744","UMLS:C1864265","UMLS:C1866373","medgen:355700"],"information_content":100.0}
{"id":"MONDO:0011139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preaxial hallucal polydactyly","equivalent_identifiers":["MONDO:0011139","OMIM:601759","UMLS:C1866339","UMLS:C2112942","MESH:C566632","medgen:356507","HP:0001841"],"information_content":95.4}
{"id":"MONDO:0011141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megaloblastic anemia, folate-responsive","equivalent_identifiers":["MONDO:0011141","OMIM:601775","UMLS:C2749656","medgen:440842","HP:0004851"],"information_content":100.0}
{"id":"MONDO:0011142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, musculocontractural type","equivalent_identifiers":["MONDO:0011142","orphanet:2953","UMLS:C1866294","MESH:C000600608","SNOMEDCT:720860004","medgen:356497"],"information_content":92.8}
{"id":"MONDO:0011143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 6","equivalent_identifiers":["MONDO:0011143","DOID:0111011","OMIM:601777","UMLS:C1866293","MESH:C538363","medgen:400963"],"information_content":100.0}
{"id":"MONDO:0011144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ceroid lipofuscinosis, neuronal, 6A","equivalent_identifiers":["MONDO:0011144","DOID:0110729","OMIM:601780","orphanet:228363","UMLS:C1866282","UMLS:C5551375","MESH:C566627","medgen:1790423"],"information_content":100.0}
{"id":"MONDO:0011145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome","equivalent_identifiers":["MONDO:0011145","OMIM:601794","orphanet:363741","UMLS:C1866256","MESH:C566623","medgen:400954"],"information_content":100.0}
{"id":"MONDO:0011146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetrasomy 12p","equivalent_identifiers":["MONDO:0011146","OMIM:601803","orphanet:884","UMLS:C0265449","UMLS:C2748628","MESH:C538105","MEDDRA:10080297","NCIT:C75458","SNOMEDCT:9527009","medgen:120540"],"information_content":100.0}
{"id":"MONDO:0011147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 18q deletion syndrome","equivalent_identifiers":["MONDO:0011147","DOID:0060407","OMIM:601808","orphanet:1600","orphanet:262146","UMLS:C0432443","MESH:C536580","MEDDRA:10066051","NCIT:C84522","SNOMEDCT:270889005","medgen:96605","icd11.foundation:1121828795"],"information_content":92.8}
{"id":"MONDO:0011148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spondylospinal thoracic dysostosis","equivalent_identifiers":["MONDO:0011148","OMIM:601809","UMLS:C1866184","MESH:C566622","medgen:400937"],"information_content":100.0}
{"id":"MONDO:0011149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature aging syndrome, Okamoto type","equivalent_identifiers":["MONDO:0011149","OMIM:601811","UMLS:C1866183","MESH:C566621","medgen:356468"],"information_content":100.0}
{"id":"MONDO:0011150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acroosteolysis-keloid-like lesions-premature aging syndrome","equivalent_identifiers":["MONDO:0011150","OMIM:601812","orphanet:363665","UMLS:C1866182","MESH:C536653","SNOMEDCT:776417008","medgen:400936"],"information_content":100.0}
{"id":"MONDO:0011151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exudative vitreoretinopathy 4","equivalent_identifiers":["MONDO:0011151","DOID:0111411","OMIM:601813","UMLS:C1866176","MESH:C566619","medgen:356171"],"information_content":100.0}
{"id":"MONDO:0011152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PHGDH deficiency","equivalent_identifiers":["MONDO:0011152","DOID:0050722","OMIM:601815","orphanet:79351","UMLS:C1866174","MESH:C566618","medgen:400935"],"information_content":100.0}
{"id":"MONDO:0011153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinemic hypoglycemia, familial, 2","equivalent_identifiers":["MONDO:0011153","DOID:0070218","OMIM:601820","UMLS:C2931833","medgen:419173"],"information_content":90.9}
{"id":"MONDO:0011154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrofacial dysostosis, Palagonia type","equivalent_identifiers":["MONDO:0011154","DOID:0060385","OMIM:601829","orphanet:1787","UMLS:C1866168","MESH:C538185","SNOMEDCT:720429007","medgen:355645","icd11.foundation:656294814"],"information_content":100.0}
{"id":"MONDO:0011155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vacuolar Neuromyopathy","equivalent_identifiers":["MONDO:0011155","OMIM:601846","UMLS:C1866139","MESH:C566617","medgen:355637"],"information_content":100.0}
{"id":"MONDO:0011156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive familial intrahepatic cholestasis type 2","equivalent_identifiers":["MONDO:0011156","DOID:0070222","OMIM:601847","orphanet:79304","UMLS:C3489789","SNOMEDCT:1155841005","medgen:483742","icd11.foundation:1168921980"],"information_content":100.0}
{"id":"MONDO:0011157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gomez-Lopez-Hernandez syndrome","equivalent_identifiers":["MONDO:0011157","OMIM:601853","orphanet:1532","UMLS:C0795959","MESH:C537285","SNOMEDCT:722451006","medgen:163201"],"information_content":100.0}
{"id":"MONDO:0011158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune lymphoproliferative syndrome type 1","equivalent_identifiers":["MONDO:0011158","OMIM:601859","UMLS:C1328840","UMLS:C1866119","UMLS:C1866120","UMLS:C1866121","MESH:C566613","MESH:C566614","MESH:C566615","MEDDRA:10069521","NCIT:C39574","NCIT:C39575","SNOMEDCT:702444009","medgen:231300"],"information_content":89.4}
{"id":"MONDO:0011159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 13","equivalent_identifiers":["MONDO:0011159","DOID:0110545","OMIM:601868","UMLS:C1866095","MESH:C566612","medgen:400917"],"information_content":100.0}
{"id":"MONDO:0011160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 15","equivalent_identifiers":["MONDO:0011160","DOID:0110470","OMIM:601869","UMLS:C1866094","MESH:C566611","medgen:355626"],"information_content":100.0}
{"id":"MONDO:0011162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 14 multiple types","equivalent_identifiers":["MONDO:0011162","DOID:0110253","OMIM:601885","UMLS:C1866078","MESH:C566608","medgen:356152"],"information_content":100.0}
{"id":"MONDO:0011163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant hyperthermia, susceptibility to, 5","equivalent_identifiers":["MONDO:0011163","OMIM:601887","UMLS:C1866077","MESH:C535698","medgen:356151"],"information_content":100.0}
{"id":"MONDO:0011165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomerulopathy with fibronectin deposits 2","equivalent_identifiers":["MONDO:0011165","OMIM:601894","UMLS:C1866075","NCIT:C187984","SNOMEDCT:722759007","medgen:356149"],"information_content":100.0}
{"id":"MONDO:0011166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphedema-atrial septal defects-facial changes syndrome","equivalent_identifiers":["MONDO:0011166","OMIM:601927","orphanet:86915","UMLS:C2677167","UMLS:C2930926","MESH:C535539","MESH:C567398","SNOMEDCT:721978002","medgen:383042"],"information_content":100.0}
{"id":"MONDO:0011167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 6","equivalent_identifiers":["MONDO:0011167","DOID:0110745","OMIM:601941","UMLS:C1866041","MESH:C566603","medgen:356143"],"information_content":100.0}
{"id":"MONDO:0011168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 10","equivalent_identifiers":["MONDO:0011168","DOID:0110749","OMIM:601942","UMLS:C1866040","MESH:C566602","medgen:400903"],"information_content":100.0}
{"id":"MONDO:0011169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","equivalent_identifiers":["MONDO:0011169","OMIM:601952","orphanet:281201","UMLS:C1866029","MESH:C566600","SNOMEDCT:763775000","medgen:356430"],"information_content":100.0}
{"id":"MONDO:0011170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2G","equivalent_identifiers":["MONDO:0011170","DOID:0110281","OMIM:601954","orphanet:34514","UMLS:C1866008","MESH:C566599","SNOMEDCT:720522001","medgen:400895"],"information_content":100.0}
{"id":"MONDO:0011171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odonto-tricho-ungual-digito-palmar syndrome","equivalent_identifiers":["MONDO:0011171","OMIM:601957","orphanet:69082","UMLS:C1865998","MESH:C566598","SNOMEDCT:722063009","medgen:400891","icd11.foundation:386386782"],"information_content":100.0}
{"id":"MONDO:0011173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocythemia 2","equivalent_identifiers":["MONDO:0011173","OMIM:601977","UMLS:C3275998","medgen:477629"],"information_content":100.0}
{"id":"MONDO:0011174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperzincemia with functional zinc depletion","equivalent_identifiers":["MONDO:0011174","OMIM:601979","orphanet:251523","UMLS:C1865986","UMLS:C4760957","MESH:C565988","MESH:C566595","MEDDRA:10081947","MEDDRA:10081949","MEDDRA:10081950","SNOMEDCT:771339005","medgen:356415"],"information_content":100.0}
{"id":"MONDO:0011175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Friedreich ataxia 2","equivalent_identifiers":["MONDO:0011175","DOID:0111219","OMIM:601992","UMLS:C1865981","MESH:C566594","medgen:356134"],"information_content":100.0}
{"id":"MONDO:0011176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal hypomagnesemia 1","equivalent_identifiers":["MONDO:0011176","DOID:0060883","OMIM:602014","orphanet:30924","UMLS:C1321780","UMLS:C1865974","UMLS:C3887522","MESH:C566593","SNOMEDCT:190856003","medgen:355596"],"information_content":100.0}
{"id":"MONDO:0011177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia 4, hair/nail type","equivalent_identifiers":["MONDO:0011177","DOID:0111658","OMIM:602032","UMLS:C4024880","MESH:C566592","medgen:870434"],"information_content":100.0}
{"id":"MONDO:0011178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile convulsions and choreoathetosis","equivalent_identifiers":["MONDO:0011178","OMIM:602066","orphanet:31709","UMLS:C1865926","MESH:C535522","NCIT:C126650","SNOMEDCT:715534008","medgen:356123"],"information_content":100.0}
{"id":"MONDO:0011179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leishmaniasis, tegumentary, susceptibility to","equivalent_identifiers":["MONDO:0011179","OMIM:602068","UMLS:C2748501","medgen:412566","HP:0007408"],"information_content":100.0}
{"id":"MONDO:0011180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"broad terminal phalanges, familial","equivalent_identifiers":["MONDO:0011180","OMIM:602071","UMLS:C1865923","MESH:C566588","medgen:400879"],"information_content":100.0}
{"id":"MONDO:0011181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrosis of extraocular muscles, congenital, 2","equivalent_identifiers":["MONDO:0011181","DOID:0081016","OMIM:602078","UMLS:C1865915","MESH:C566587","medgen:356119"],"information_content":100.0}
{"id":"MONDO:0011182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trimethylaminuria","equivalent_identifiers":["MONDO:0011182","UMLS:C0342739","MEDDRA:10068233","SNOMEDCT:237959005","medgen:83350","icd11.foundation:685690588","HP:0003614"],"information_content":92.8}
{"id":"MONDO:0011183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paget disease of bone 2, early-onset","equivalent_identifiers":["MONDO:0011183","DOID:0081365","OMIM:602080","UMLS:C4085251","medgen:899166"],"information_content":100.0}
{"id":"MONDO:0011184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood apraxia of speech","equivalent_identifiers":["MONDO:0011184","DOID:0111275","OMIM:602081","orphanet:209908","UMLS:C0750927","UMLS:C5441570","SNOMEDCT:229703009","medgen:152917","icd11.foundation:1590154825"],"information_content":100.0}
{"id":"MONDO:0011185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thiel-Behnke corneal dystrophy","equivalent_identifiers":["MONDO:0011185","DOID:0060455","OMIM:602082","orphanet:98960","UMLS:C1562894","MESH:C535942","SNOMEDCT:417065002","medgen:287070","icd11.foundation:2082568100"],"information_content":100.0}
{"id":"MONDO:0011186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 1F","equivalent_identifiers":["MONDO:0011186","DOID:0110832","OMIM:602083","UMLS:C1865885","MESH:C566586","medgen:356393"],"information_content":100.0}
{"id":"MONDO:0011187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly, postaxial, type A2","equivalent_identifiers":["MONDO:0011187","OMIM:602085","UMLS:C1865883","MESH:C566585","medgen:356392"],"information_content":100.0}
{"id":"MONDO:0011188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 3","equivalent_identifiers":["MONDO:0011188","DOID:0110072","OMIM:602086","UMLS:C1865882","MESH:C566584","medgen:356108"],"information_content":100.0}
{"id":"MONDO:0011189","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 4","equivalent_identifiers":["MONDO:0011189","DOID:0110073","OMIM:602087","UMLS:C1865881","MESH:C566583","medgen:356107"],"information_content":100.0}
{"id":"MONDO:0011190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 2","equivalent_identifiers":["MONDO:0011190","DOID:0111113","OMIM:602088","orphanet:93591","UMLS:C1865872","MESH:C566582","medgen:355574"],"information_content":100.0}
{"id":"MONDO:0011191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"capillary infantile hemangioma","equivalent_identifiers":["MONDO:0011191","OMIM:602089","UMLS:C1865871","UMLS:C4317089","MESH:C535860","MEDDRA:10075378","MEDDRA:10075379","NCIT:C6645","SNOMEDCT:1293125002","medgen:355573"],"information_content":89.4}
{"id":"MONDO:0011192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 18A","equivalent_identifiers":["MONDO:0011192","DOID:0110473","OMIM:602092","UMLS:C1865870","MESH:C566580","medgen:356389"],"information_content":100.0}
{"id":"MONDO:0011193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone dystrophy 3","equivalent_identifiers":["MONDO:0011193","DOID:0080314","OMIM:602093","UMLS:C1838190","UMLS:C1865869","MESH:C566579","medgen:356104"],"information_content":100.0}
{"id":"MONDO:0011194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 5","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0011194","DOID:0110037","OMIM:602096","UMLS:C1865868","MESH:C566578","medgen:356103"],"information_content":100.0}
{"id":"MONDO:0011195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 1E","equivalent_identifiers":["MONDO:0011195","DOID:0110833","OMIM:602097","UMLS:C1865865","MESH:C566577","medgen:400865"],"information_content":100.0}
{"id":"MONDO:0011196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 5","equivalent_identifiers":["MONDO:0011196","DOID:0060197","OMIM:602099","UMLS:C1865864","MESH:C566576","SNOMEDCT:1201961000","medgen:356388"],"information_content":100.0}
{"id":"MONDO:0011198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Missouri type","equivalent_identifiers":["MONDO:0011198","DOID:0080030","OMIM:602111","orphanet:93356","UMLS:C1865832","UMLS:C2748495","MESH:C566574","MESH:C567545","SNOMEDCT:719171005","medgen:355563","icd11.foundation:1593289281"],"information_content":100.0}
{"id":"MONDO:0011199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephropathy, progressive tubulointerstitial, with cholestatic liver disease","equivalent_identifiers":["MONDO:0011199","OMIM:602114","UMLS:C1865831","MESH:C566573","medgen:355562"],"information_content":100.0}
{"id":"MONDO:0011200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsion dystonia 7","equivalent_identifiers":["MONDO:0011200","DOID:0090040","OMIM:602124","UMLS:C1865818","UMLS:C1865819","MESH:C566572","medgen:355560"],"information_content":100.0}
{"id":"MONDO:0011201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tremor, hereditary essential, 2","equivalent_identifiers":["MONDO:0011201","DOID:0111429","OMIM:602134","UMLS:C1865810","MESH:C536546","medgen:356087"],"information_content":100.0}
{"id":"MONDO:0011202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RHYNS syndrome","equivalent_identifiers":["MONDO:0011202","OMIM:602152","orphanet:140976","UMLS:C1865794","MESH:C537612","SNOMEDCT:723999009","medgen:356371"],"information_content":100.0}
{"id":"MONDO:0011203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pierre Robin sequence with pectus excavatum and rib and scapular anomalies","equivalent_identifiers":["MONDO:0011203","OMIM:602196","UMLS:C1865783","MESH:C535775","medgen:355549"],"information_content":100.0}
{"id":"MONDO:0011205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"medium chain 3-ketoacyl-Coa thiolase deficiency","equivalent_identifiers":["MONDO:0011205","OMIM:602199","UMLS:C1865781","MESH:C566566","medgen:356367"],"information_content":100.0}
{"id":"MONDO:0011206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventriculomegaly with defects of the radius and kidney","equivalent_identifiers":["MONDO:0011206","OMIM:602200","UMLS:C1865780","MESH:C566565","medgen:400843"],"information_content":100.0}
{"id":"MONDO:0011207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xanthomatosis, susceptibility to","equivalent_identifiers":["MONDO:0011207","OMIM:602247","UMLS:C1865704","medgen:356066"],"information_content":100.0}
{"id":"MONDO:0011208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant atrophic papulosis","equivalent_identifiers":["MONDO:0011208","OMIM:602248","orphanet:679","UMLS:C0221011","MESH:D054853","MEDDRA:10064281","MEDDRA:10064287","MEDDRA:10083955","NCIT:C84835","SNOMEDCT:400171002","medgen:113138","icd11.foundation:792094526"],"information_content":100.0}
{"id":"MONDO:0011211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"axial spondylometaphyseal dysplasia","equivalent_identifiers":["MONDO:0011211","DOID:0112299","OMIM:602271","orphanet:168549","UMLS:C1865695","MESH:C535795","SNOMEDCT:771301002","medgen:356065","icd11.foundation:834893572"],"information_content":100.0}
{"id":"MONDO:0011213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pierpont syndrome","equivalent_identifiers":["MONDO:0011213","DOID:0081362","OMIM:602342","orphanet:487825","UMLS:C1865644","MESH:C566559","SNOMEDCT:1220594007","medgen:356049"],"information_content":100.0}
{"id":"MONDO:0011214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive familial intrahepatic cholestasis type 3","equivalent_identifiers":["MONDO:0011214","DOID:0070223","OMIM:602347","orphanet:79305","UMLS:C1865643","MESH:C535935","SNOMEDCT:1186865008","medgen:356333","icd11.foundation:1276600959"],"information_content":100.0}
{"id":"MONDO:0011215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteocraniostenosis","equivalent_identifiers":["MONDO:0011215","OMIM:602361","orphanet:2763","UMLS:C1865639","MESH:C537291","SNOMEDCT:722109008","medgen:356331","icd11.foundation:539409723"],"information_content":100.0}
{"id":"MONDO:0011216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemochromatosis type 2A","equivalent_identifiers":["MONDO:0011216","DOID:0111027","OMIM:602390","UMLS:C1865614","medgen:356321"],"information_content":100.0}
{"id":"MONDO:0011217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"desmosterolosis","equivalent_identifiers":["MONDO:0011217","OMIM:602398","orphanet:35107","UMLS:C1865596","MESH:C566555","SNOMEDCT:709490002","medgen:400801","icd11.foundation:2108931494"],"information_content":100.0}
{"id":"MONDO:0011218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis 11","equivalent_identifiers":["MONDO:0011218","DOID:0060720","OMIM:602400","orphanet:91132","UMLS:C1835851","MESH:C536273","medgen:332073","ICD10:Q80.8"],"information_content":100.0}
{"id":"MONDO:0011219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fried's tooth and nail syndrome","equivalent_identifiers":["MONDO:0011219","DOID:0111661","OMIM:602401","orphanet:99672","UMLS:C0406715","UMLS:C3551424","SNOMEDCT:239020008","medgen:764338"],"information_content":100.0}
{"id":"MONDO:0011221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weyers ulnar ray/oligodactyly syndrome","equivalent_identifiers":["MONDO:0011221","OMIM:602418","UMLS:C1865566","MESH:C536696","medgen:356030"],"information_content":100.0}
{"id":"MONDO:0011223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 4","equivalent_identifiers":["MONDO:0011223","DOID:0060196","OMIM:602433","orphanet:357043","UMLS:C1865409","MESH:C566550","SNOMEDCT:784341001","medgen:355983"],"information_content":100.0}
{"id":"MONDO:0011224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monomelic amyotrophy","equivalent_identifiers":["MONDO:0011224","OMIM:602440","orphanet:65684","EFO:1001989","UMLS:C1865384","MESH:C538253","MEDDRA:10069681","medgen:356265","icd11.foundation:2090347823"],"information_content":95.4}
{"id":"MONDO:0011225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency due to DCLRE1C deficiency","equivalent_identifiers":["MONDO:0011225","DOID:0090012","OMIM:602450","orphanet:275","UMLS:C1865370","UMLS:C1865371","UMLS:C1865373","MESH:C536786","MESH:C537589","NCIT:C162694","SNOMEDCT:715982006","medgen:355454","ICD10:D81.1"],"information_content":100.0}
{"id":"MONDO:0011226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 15","equivalent_identifiers":["MONDO:0011226","DOID:0110546","OMIM:602459","UMLS:C1865366","MESH:C566545","medgen:355451"],"information_content":100.0}
{"id":"MONDO:0011227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome","equivalent_identifiers":["MONDO:0011227","OMIM:602471","orphanet:397623","UMLS:C1563296","UMLS:C1865361","MESH:C566544","SNOMEDCT:417081007","medgen:355971"],"information_content":100.0}
{"id":"MONDO:0011229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ethylmalonic encephalopathy","equivalent_identifiers":["MONDO:0011229","DOID:0060640","OMIM:602473","orphanet:51188","UMLS:C1865349","MESH:C535737","SNOMEDCT:723307008","medgen:355966","icd11.foundation:1966714550"],"information_content":100.0}
{"id":"MONDO:0011230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ossification of the posterior longitudinal ligament of the spine","equivalent_identifiers":["MONDO:0011230","DOID:0060887","OMIM:602475","EFO:0005895","UMLS:C0206366","UMLS:C1865343","MESH:C537143","MESH:D017887","MEDDRA:10058663","NCIT:C84975","SNOMEDCT:90448008","medgen:355447"],"information_content":100.0}
{"id":"MONDO:0011232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine, familial hemiplegic, 2","equivalent_identifiers":["MONDO:0011232","DOID:0111182","OMIM:602481","UMLS:C1865322","UMLS:C1865323","MESH:C537246","MESH:C566540","SNOMEDCT:1260330000","medgen:355962"],"information_content":100.0}
{"id":"MONDO:0011233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Axenfeld-Rieger syndrome type 3","equivalent_identifiers":["MONDO:0011233","DOID:0110122","OMIM:602482","UMLS:C2678503","SNOMEDCT:22155002","medgen:394534"],"information_content":100.0}
{"id":"MONDO:0011234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"auriculocondylar syndrome 1","equivalent_identifiers":["MONDO:0011234","OMIM:602483","UMLS:C4551996","medgen:1639644"],"information_content":100.0}
{"id":"MONDO:0011235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelvic dysplasia-arthrogryposis of lower limbs syndrome","equivalent_identifiers":["MONDO:0011235","OMIM:602484","orphanet:2840","UMLS:C1865294","MESH:C535548","medgen:400731"],"information_content":100.0}
{"id":"MONDO:0011236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinism due to glucokinase deficiency","equivalent_identifiers":["MONDO:0011236","DOID:0070216","OMIM:602485","orphanet:79299","UMLS:C1865290","UMLS:C4274019","MESH:C538374","SNOMEDCT:717182006","medgen:355435"],"information_content":100.0}
{"id":"MONDO:0011237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlipidemia, combined, 1","equivalent_identifiers":["MONDO:0011237","OMIM:602491","UMLS:C1865289","MESH:C566535","medgen:355434"],"information_content":100.0}
{"id":"MONDO:0011239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colobomatous macrophthalmia-microcornea syndrome","equivalent_identifiers":["MONDO:0011239","OMIM:602499","orphanet:468672","UMLS:C1865286","MESH:C566533","SNOMEDCT:1179296003","medgen:400728"],"information_content":100.0}
{"id":"MONDO:0011240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephaly-capillary malformation-polymicrogyria syndrome","equivalent_identifiers":["MONDO:0011240","OMIM:602501","orphanet:60040","UMLS:C1865285","MESH:C536142","MEDDRA:10085516","SNOMEDCT:700063005","SNOMEDCT:703370002","medgen:355421"],"information_content":100.0}
{"id":"MONDO:0011242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartter disease type 4A","equivalent_identifiers":["MONDO:0011242","DOID:0110145","OMIM:602522","UMLS:C1865270","UMLS:C2748440","MESH:C566530","MESH:C567544","SNOMEDCT:717791000","medgen:355430"],"information_content":100.0}
{"id":"MONDO:0011243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"grange syndrome","equivalent_identifiers":["MONDO:0011243","OMIM:602531","orphanet:79094","UMLS:C1865267","MESH:C566529","SNOMEDCT:717824007","medgen:355427","icd11.foundation:729368905"],"information_content":100.0}
{"id":"MONDO:0011244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marshall-Smith syndrome","equivalent_identifiers":["MONDO:0011244","DOID:0050858","OMIM:602535","orphanet:561","UMLS:C0265211","MESH:C536026","SNOMEDCT:73284007","medgen:75551","icd11.foundation:417951600"],"information_content":100.0}
{"id":"MONDO:0011245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HID Syndrome","equivalent_identifiers":["MONDO:0011245","OMIM:602540","UMLS:C1865234","MESH:C566528","medgen:355410"],"information_content":100.0}
{"id":"MONDO:0011246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megaconial type congenital muscular dystrophy","equivalent_identifiers":["MONDO:0011246","DOID:0110632","OMIM:602541","orphanet:280671","UMLS:C1865233","MESH:C566527","SNOMEDCT:1230273004","medgen:355943","ICD10:G71.2"],"information_content":100.0}
{"id":"MONDO:0011248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 13q","equivalent_identifiers":["MONDO:0011248","OMIM:602553","orphanet:1590","UMLS:C1865208","UMLS:C4706502","MESH:C566526","SNOMEDCT:763527007","medgen:355405"],"information_content":100.0}
{"id":"MONDO:0011249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsion dystonia with onset in infancy","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0011249","DOID:0090058","OMIM:602554","UMLS:C1865205","MESH:C536969","medgen:400706"],"information_content":100.0}
{"id":"MONDO:0011252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Shohat type","equivalent_identifiers":["MONDO:0011252","OMIM:602557","orphanet:93352","UMLS:C1865185","MESH:C566523","SNOMEDCT:719201004","medgen:400703","icd11.foundation:1389783101"],"information_content":100.0}
{"id":"MONDO:0011255","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibulofacial dysostosis-macroblepharon-macrostomia syndrome","equivalent_identifiers":["MONDO:0011255","OMIM:602562","orphanet:357158","UMLS:C1865181","MESH:C566520","medgen:355927"],"information_content":100.0}
{"id":"MONDO:0011257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MPI-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0011257","DOID:0080554","OMIM:602579","orphanet:79319","UMLS:C1291610","UMLS:C1865145","MESH:C535740","SNOMEDCT:1231141008","SNOMEDCT:124668009","medgen:400692"],"information_content":100.0}
{"id":"MONDO:0011258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchiootic syndrome 1","equivalent_identifiers":["MONDO:0011258","OMIM:602588","UMLS:C1865143","UMLS:C3551443","medgen:351307"],"information_content":100.0}
{"id":"MONDO:0011261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability","equivalent_identifiers":["MONDO:0011261","DOID:0112294","OMIM:602611","orphanet:163649","UMLS:C1865134","MESH:C566515","SNOMEDCT:718766002","medgen:355919"],"information_content":100.0}
{"id":"MONDO:0011262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye","equivalent_identifiers":["MONDO:0011262","OMIM:602612","orphanet:1323","UMLS:C1865133","UMLS:C2931051","MESH:C535876","SNOMEDCT:715986009","medgen:355918"],"information_content":100.0}
{"id":"MONDO:0011264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsion dystonia 6","equivalent_identifiers":["MONDO:0011264","DOID:0090039","OMIM:602629","orphanet:98806","UMLS:C1414216","MESH:C538003","NCIT:C156361","SNOMEDCT:702448007","medgen:236274"],"information_content":100.0}
{"id":"MONDO:0011266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myotonic dystrophy type 2","equivalent_identifiers":["MONDO:0011266","DOID:0050759","OMIM:602668","orphanet:606","UMLS:C2931689","MEDDRA:10090452","NCIT:C84680","SNOMEDCT:715317001","medgen:419137","icd11.foundation:1005849639","ICD10:G71.1","ICD9:359.2"],"information_content":92.8}
{"id":"MONDO:0011268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubular acidosis, distal, 3, with or without sensorineural hearing loss","equivalent_identifiers":["MONDO:0011268","OMIM:602722","UMLS:C5399980","medgen:1732975"],"information_content":100.0}
{"id":"MONDO:0011269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis 2","equivalent_identifiers":["MONDO:0011269","DOID:0080475","OMIM:602723","UMLS:C1864497","medgen:351141"],"information_content":100.0}
{"id":"MONDO:0011271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rigid spine muscular dystrophy 1","equivalent_identifiers":["MONDO:0011271","DOID:0110633","OMIM:602771","UMLS:C0410180","NCIT:C126691","SNOMEDCT:240063002","medgen:98047","ICD10:G71.8"],"information_content":95.4}
{"id":"MONDO:0011272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 25","equivalent_identifiers":["MONDO:0011272","DOID:0110384","OMIM:602772","UMLS:C1864446","MESH:C566425","medgen:350427"],"information_content":100.0}
{"id":"MONDO:0011273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"H syndrome","equivalent_identifiers":["MONDO:0011273","DOID:0111278","OMIM:602782","orphanet:168569","UMLS:C1864445","UMLS:C2930890","MESH:C535391","MESH:C538322","MEDDRA:10086258","SNOMEDCT:711159002","medgen:400532","icd11.foundation:107155297"],"information_content":100.0}
{"id":"MONDO:0011274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Muenke syndrome","equivalent_identifiers":["MONDO:0011274","DOID:0060703","OMIM:602849","orphanet:53271","UMLS:C1864436","MESH:C537369","MEDDRA:10088781","NCIT:C84904","SNOMEDCT:440350001","SNOMEDCT:787407003","medgen:355217","icd11.foundation:1860572017"],"information_content":100.0}
{"id":"MONDO:0011275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromesomelic dysplasia 1, Maroteaux type","equivalent_identifiers":["MONDO:0011275","DOID:0080050","OMIM:602875","orphanet:40","UMLS:C1864356","MESH:C535661","SNOMEDCT:718559000","medgen:355199"],"information_content":100.0}
{"id":"MONDO:0011279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 17","equivalent_identifiers":["MONDO:0011279","DOID:0110472","OMIM:603010","UMLS:C1864276","MESH:C566418","medgen:355180"],"information_content":100.0}
{"id":"MONDO:0011280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 6","equivalent_identifiers":["MONDO:0011280","DOID:0070082","OMIM:603013","UMLS:C1864275","medgen:350380"],"information_content":100.0}
{"id":"MONDO:0011281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 5","equivalent_identifiers":["MONDO:0011281","DOID:0110667","OMIM:603034","UMLS:C1864233","MESH:C566415","NCIT:C129304","medgen:400481"],"information_content":100.0}
{"id":"MONDO:0011283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 1","equivalent_identifiers":["MONDO:0011283","DOID:0080119","OMIM:603041","UMLS:C4551995","NCIT:C11967","medgen:1631838"],"information_content":100.0}
{"id":"MONDO:0011284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"astigmatism","equivalent_identifiers":["MONDO:0011284","DOID:11782","OMIM:603047","UMLS:C0004106","MESH:D001251","MEDDRA:10003569","MEDDRA:10003570","SNOMEDCT:82649003","medgen:2473","icd11.foundation:402558626","ICD10:H52.2","ICD9:367.2","HP:0000483"],"information_content":84.8}
{"id":"MONDO:0011285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 1","equivalent_identifiers":["MONDO:0011285","DOID:0110014","OMIM:603075","UMLS:C1864205","MESH:C566411","medgen:400475"],"information_content":100.0}
{"id":"MONDO:0011286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 13","equivalent_identifiers":["MONDO:0011286","DOID:0110468","OMIM:603098","UMLS:C1864199","MESH:C566410","medgen:350361"],"information_content":100.0}
{"id":"MONDO:0011287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CDAGS SYNDROME","equivalent_identifiers":["MONDO:0011287","OMIM:603116","orphanet:85199","UMLS:C1864186","MESH:C536789","SNOMEDCT:720812002","medgen:351066"],"information_content":100.0}
{"id":"MONDO:0011291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALG6-congenital disorder of glycosylation 1C","equivalent_identifiers":["MONDO:0011291","DOID:0080555","OMIM:603147","orphanet:79320","UMLS:C2930997","MESH:C535741","NCIT:C126869","SNOMEDCT:709412006","medgen:443952"],"information_content":100.0}
{"id":"MONDO:0011296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 2","equivalent_identifiers":["MONDO:0011296","DOID:0070116","OMIM:603194","UMLS:C1864148","MESH:C536131","medgen:351059"],"information_content":100.0}
{"id":"MONDO:0011297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nocturnal frontal lobe epilepsy 2","equivalent_identifiers":["MONDO:0011297","DOID:0060683","OMIM:603204","UMLS:C1864125","MESH:C566400","medgen:351053"],"information_content":100.0}
{"id":"MONDO:0011299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Huntington disease-like 1","equivalent_identifiers":["MONDO:0011299","DOID:0090103","OMIM:603218","orphanet:157941","UMLS:C1864112","MESH:C566398","SNOMEDCT:784371009","medgen:355137","ICD10:G10"],"information_content":100.0}
{"id":"MONDO:0011300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myopia 3","equivalent_identifiers":["MONDO:0011300","OMIM:603221","UMLS:C1864111","MESH:C566397","medgen:400454"],"information_content":100.0}
{"id":"MONDO:0011301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoparathyroidism type 1B","equivalent_identifiers":["MONDO:0011301","DOID:0080222","OMIM:603233","orphanet:94089","UMLS:C1864100","MESH:C548075","medgen:350343","icd11.foundation:440485628"],"information_content":100.0}
{"id":"MONDO:0011303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal segmental glomerulosclerosis 1","equivalent_identifiers":["MONDO:0011303","DOID:0111128","OMIM:603278","UMLS:C0333497","UMLS:C4551527","MESH:C538457","SNOMEDCT:16104005","medgen:1636833","ICD10:N04.1","HP:0033495"],"information_content":90.9}
{"id":"MONDO:0011304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral cavernous malformation 2","equivalent_identifiers":["MONDO:0011304","DOID:0060670","OMIM:603284","UMLS:C1864041","MESH:C566394","medgen:400438","ICD10:Q28.3"],"information_content":100.0}
{"id":"MONDO:0011305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral cavernous malformation 3","equivalent_identifiers":["MONDO:0011305","DOID:0060671","OMIM:603285","UMLS:C1864040","MESH:C566393","medgen:355121"],"information_content":100.0}
{"id":"MONDO:0011308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GRACILE syndrome","equivalent_identifiers":["MONDO:0011308","DOID:0111455","OMIM:603358","orphanet:53693","UMLS:C1864002","MESH:C537934","MEDDRA:10081684","SNOMEDCT:703388005","medgen:400428"],"information_content":100.0}
{"id":"MONDO:0011309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial gestational hyperthyroidism","equivalent_identifiers":["MONDO:0011309","DOID:0081102","OMIM:603373","orphanet:99819","UMLS:C1863959","MESH:C566384","SNOMEDCT:703309000","medgen:355106","icd11.foundation:811229304"],"information_content":100.0}
{"id":"MONDO:0011313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1","equivalent_identifiers":["MONDO:0011313","OMIM:603387","UMLS:C1863924","UMLS:C4012727","MESH:C566381","NCIT:C202114","medgen:861164"],"information_content":100.0}
{"id":"MONDO:0011320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radioulnar synostosis-microcephaly-scoliosis syndrome","equivalent_identifiers":["MONDO:0011320","OMIM:603438","orphanet:3268","UMLS:C1863881","medgen:400399"],"information_content":100.0}
{"id":"MONDO:0011323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arhinia, choanal atresia, and microphthalmia","equivalent_identifiers":["MONDO:0011323","OMIM:603457","orphanet:2250","UMLS:C1863878","MESH:C537429","SNOMEDCT:720511000","medgen:355084"],"information_content":100.0}
{"id":"MONDO:0011325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group F","equivalent_identifiers":["MONDO:0011325","DOID:0111088","OMIM:603467","EFO:0009045","UMLS:C3469526","NCIT:C125707","medgen:854016"],"information_content":92.8}
{"id":"MONDO:0011326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"citrullinemia, type II, adult-onset","equivalent_identifiers":["MONDO:0011326","DOID:0070342","OMIM:603471"],"information_content":100.0}
{"id":"MONDO:0011327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal intranuclear inclusion disease","equivalent_identifiers":["MONDO:0011327","DOID:0081294","OMIM:603472","orphanet:2289","UMLS:C1863843","MESH:C537395","MEDDRA:10084235","NCIT:C122655","SNOMEDCT:715437003","medgen:355075","icd11.foundation:693937860"],"information_content":100.0}
{"id":"MONDO:0011330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 10","equivalent_identifiers":["MONDO:0011330","DOID:0050960","OMIM:603516","orphanet:98761","UMLS:C1963674","MESH:C566874","SNOMEDCT:715754007","medgen:369786","icd11.foundation:157300879"],"information_content":100.0}
{"id":"MONDO:0011332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin","equivalent_identifiers":["MONDO:0011332","OMIM:603529","UMLS:C3807235","medgen:813565"],"information_content":100.0}
{"id":"MONDO:0011334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limb-mammary syndrome","equivalent_identifiers":["MONDO:0011334","OMIM:603543","orphanet:69085","UMLS:C1863753","MESH:C535903","SNOMEDCT:721972001","medgen:355051","icd11.foundation:1958986288"],"information_content":100.0}
{"id":"MONDO:0011335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia with multiple dislocations","equivalent_identifiers":["MONDO:0011335","DOID:0112199","OMIM:603546","orphanet:93360","UMLS:C1863732","MESH:C535784","NCIT:C125419","SNOMEDCT:766820007","medgen:350960"],"information_content":100.0}
{"id":"MONDO:0011336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hemophagocytic lymphohistiocytosis 4","equivalent_identifiers":["MONDO:0011336","DOID:0110924","OMIM:603552","UMLS:C1863728","MESH:C537252","NCIT:C203461","medgen:350245"],"information_content":92.8}
{"id":"MONDO:0011337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hemophagocytic lymphohistiocytosis 2","equivalent_identifiers":["MONDO:0011337","DOID:0110922","OMIM:603553","UMLS:C1863727","MESH:C537250","NCIT:C203462","medgen:400366"],"information_content":92.8}
{"id":"MONDO:0011338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Omenn syndrome","equivalent_identifiers":["MONDO:0011338","DOID:0060010","OMIM:603554","orphanet:39041","EFO:1001499","UMLS:C1801959","UMLS:C2700553","UMLS:C2931884","MESH:C538564","MEDDRA:10068785","MEDDRA:10069097","NCIT:C61240","SNOMEDCT:307650006","SNOMEDCT:722067005","medgen:398130","ICD10:D81.8"],"information_content":90.9}
{"id":"MONDO:0011339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 8","equivalent_identifiers":["MONDO:0011339","DOID:0110823","OMIM:603563","orphanet:100989","UMLS:C1863704","MESH:C580458","SNOMEDCT:785305006","medgen:400359"],"information_content":100.0}
{"id":"MONDO:0011340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital tracheal stenosis","equivalent_identifiers":["MONDO:0011340","OMIM:603569","orphanet:141127","UMLS:C0265767","UMLS:C1863703","MESH:C000715347","MESH:C566362","SNOMEDCT:890389003","SNOMEDCT:9660004","medgen:120556","icd11.foundation:2095672409"],"information_content":100.0}
{"id":"MONDO:0011342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SLC35A1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0011342","DOID:0070258","OMIM:603585","orphanet:238459","UMLS:C1970344","MESH:C567040","SNOMEDCT:723624008","medgen:370234"],"information_content":100.0}
{"id":"MONDO:0011346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xanthinuria type II","equivalent_identifiers":["MONDO:0011346","DOID:0070453","OMIM:603592","orphanet:93602","UMLS:C1863688","MESH:C566358","medgen:350953"],"information_content":100.0}
{"id":"MONDO:0011350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 17","equivalent_identifiers":["MONDO:0011350","DOID:0110548","OMIM:603622","UMLS:C1863659","UMLS:C1863660","medgen:350942"],"information_content":100.0}
{"id":"MONDO:0011351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 21","equivalent_identifiers":["MONDO:0011351","DOID:0110479","OMIM:603629","UMLS:C1863655","MESH:C566353","medgen:355030"],"information_content":100.0}
{"id":"MONDO:0011355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 7","equivalent_identifiers":["MONDO:0011355","DOID:0111012","OMIM:603649","UMLS:C1863634","MESH:C566350","medgen:355026"],"information_content":100.0}
{"id":"MONDO:0011359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromelic frontonasal dysostosis","equivalent_identifiers":["MONDO:0011359","DOID:0060342","OMIM:603671","orphanet:1827","UMLS:C0796182","UMLS:C1863616","MESH:C535657","MESH:C566345","SNOMEDCT:715427008","medgen:350933"],"information_content":100.0}
{"id":"MONDO:0011360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 14","equivalent_identifiers":["MONDO:0011360","DOID:0110469","OMIM:603678","UMLS:C1863613","MESH:C566344","medgen:350931"],"information_content":100.0}
{"id":"MONDO:0011362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, myofibrillar, 9, with early respiratory failure","equivalent_identifiers":["MONDO:0011362","DOID:0111188","OMIM:603689","orphanet:178464","EFO:0010828","UMLS:C1863599","MESH:C564377","MESH:C566343","SNOMEDCT:702373006","medgen:350930"],"information_content":100.0}
{"id":"MONDO:0011364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 16","equivalent_identifiers":["MONDO:0011364","DOID:0110471","OMIM:603720","UMLS:C1863561","MESH:C566339","medgen:350211"],"information_content":100.0}
{"id":"MONDO:0011365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharophimosis - intellectual disability syndrome, SBBYS type","equivalent_identifiers":["MONDO:0011365","DOID:0060290","OMIM:603736","orphanet:3047","UMLS:C1863557","MESH:C536717","MEDDRA:10090556","SNOMEDCT:699298009","medgen:350209"],"information_content":100.0}
{"id":"MONDO:0011369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercholesterolemia, autosomal dominant, 3","equivalent_identifiers":["MONDO:0011369","OMIM:603776","UMLS:C1863551","UMLS:C3276239","MESH:C566337","medgen:355007"],"information_content":100.0}
{"id":"MONDO:0011370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stargardt disease 4","equivalent_identifiers":["MONDO:0011370","OMIM:603786","UMLS:C1863534","MESH:C535521","medgen:355004"],"information_content":100.0}
{"id":"MONDO:0011374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercholesterolemia, familial, 4","equivalent_identifiers":["MONDO:0011374","DOID:0090105","OMIM:603813","UMLS:C1863512","MESH:C566331","MEDDRA:10088744","MEDDRA:10088745","NCIT:C128114","medgen:400313","ICD10:E78.0"],"information_content":100.0}
{"id":"MONDO:0011376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular fibrillation, paroxysmal familial, type 1","equivalent_identifiers":["MONDO:0011376","OMIM:603829","UMLS:C2751898","MESH:C567851","SNOMEDCT:233915000","medgen:414502"],"information_content":100.0}
{"id":"MONDO:0011377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 3","equivalent_identifiers":["MONDO:0011377","DOID:0110646","OMIM:603830","UMLS:C1838527","UMLS:C1859062","UMLS:C3276240","MESH:C565840","NCIT:C137959","medgen:349087"],"information_content":100.0}
{"id":"MONDO:0011381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dominant beta-thalassemia","equivalent_identifiers":["MONDO:0011381","DOID:0080770","OMIM:603902","orphanet:231226","UMLS:C1858990","MESH:C565834","SNOMEDCT:716682000","medgen:347036"],"information_content":100.0}
{"id":"MONDO:0011382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sickle cell disease","equivalent_identifiers":["MONDO:0011382","DOID:0081445","DOID:10923","OMIM:603903","orphanet:232","UMLS:C0002895","MESH:D000755","MEDDRA:10002077","MEDDRA:10040641","MEDDRA:10040644","MEDDRA:10040645","MEDDRA:10040646","MEDDRA:10040652","MEDDRA:10040653","MEDDRA:10040654","MEDDRA:10054629","MEDDRA:10055200","MEDDRA:10055741","NCIT:C34383","SNOMEDCT:127040003","SNOMEDCT:417357006","medgen:287","ICD10:D57","ICD9:282.6"],"information_content":88.2}
{"id":"MONDO:0011383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune lymphoproliferative syndrome type 2A","equivalent_identifiers":["MONDO:0011383","DOID:0110115","OMIM:603909","UMLS:C1858968","MESH:C565833","NCIT:C39576","medgen:349065"],"information_content":92.8}
{"id":"MONDO:0011385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intervertebral disk degenerative disorder","equivalent_identifiers":["MONDO:0011385","DOID:90","OMIM:603932","EFO:0004994","UMLS:C0158266","MESH:D055959","MEDDRA:10012152","MEDDRA:10022627","MEDDRA:10061246","MEDDRA:10070241","NCIT:C26983","SNOMEDCT:77547008","medgen:102357","HP:0008419"],"information_content":90.9}
{"id":"MONDO:0011386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microvascular complications of diabetes, susceptibility to, 1","equivalent_identifiers":["MONDO:0011386","OMIM:603933","UMLS:C2676832","UMLS:C2676833","UMLS:C2676835","UMLS:C2676836","UMLS:C2676837","UMLS:C2676838","UMLS:C2676839","UMLS:C4017829","medgen:382957"],"information_content":100.0}
{"id":"MONDO:0011389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 16","equivalent_identifiers":["MONDO:0011389","DOID:0110547","OMIM:603964","UMLS:C1858916","MESH:C565832","medgen:349054"],"information_content":100.0}
{"id":"MONDO:0011390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal segmental glomerulosclerosis 2","equivalent_identifiers":["MONDO:0011390","DOID:0111129","OMIM:603965","UMLS:C1858915","MESH:C565831","medgen:349053"],"information_content":100.0}
{"id":"MONDO:0011391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephalic leukoencephalopathy with subcortical cysts","equivalent_identifiers":["MONDO:0011391","DOID:0080315","orphanet:2478","UMLS:C1858854","MESH:C536141","SNOMEDCT:703536004","medgen:347006"],"information_content":90.9}
{"id":"MONDO:0011392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 20","equivalent_identifiers":["MONDO:0011392","DOID:0110478","OMIM:604060","UMLS:C1858840","MESH:C565828","medgen:347005"],"information_content":100.0}
{"id":"MONDO:0011393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoalphalipoproteinemia, primary, 1","equivalent_identifiers":["MONDO:0011393","DOID:0080957","OMIM:604091","UMLS:C5231558","medgen:1684828"],"information_content":100.0}
{"id":"MONDO:0011395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 3","equivalent_identifiers":["MONDO:0011395","DOID:0111013","OMIM:604116","UMLS:C1858806","MESH:C565827","medgen:349030"],"information_content":100.0}
{"id":"MONDO:0011396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"loricrin keratoderma","equivalent_identifiers":["MONDO:0011396","OMIM:604117","orphanet:79395","UMLS:C1858805","MESH:C565826","SNOMEDCT:717183001","medgen:395099"],"information_content":100.0}
{"id":"MONDO:0011397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant cerebellar ataxia, deafness and narcolepsy","equivalent_identifiers":["MONDO:0011397","DOID:0050968","OMIM:604121","orphanet:314404","UMLS:C3807295","medgen:813625"],"information_content":100.0}
{"id":"MONDO:0011398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystrophic epidermolysis bullosa pruriginosa","equivalent_identifiers":["MONDO:0011398","OMIM:604129","orphanet:89843","UMLS:C1275114","MESH:C563192","SNOMEDCT:403810008","medgen:266151"],"information_content":100.0}
{"id":"MONDO:0011399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha thalassemia spectrum","equivalent_identifiers":["MONDO:0011399","DOID:1099","OMIM:604131","orphanet:846","UMLS:C0002312","MESH:D017085","MEDDRA:10001802","MEDDRA:10001817","MEDDRA:10043390","MEDDRA:10054659","NCIT:C34368","SNOMEDCT:68913001","medgen:1434","icd11.foundation:531667506","ICD9:282.43"],"information_content":86.3}
{"id":"MONDO:0011400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1G","equivalent_identifiers":["MONDO:0011400","DOID:0110430","OMIM:604145","UMLS:C1858763","MESH:C565824","NCIT:C182078","medgen:347714"],"information_content":100.0}
{"id":"MONDO:0011402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital cataracts-facial dysmorphism-neuropathy syndrome","equivalent_identifiers":["MONDO:0011402","OMIM:604168","orphanet:48431","UMLS:C1858726","MESH:C565822","SNOMEDCT:702433001","medgen:346973"],"information_content":100.0}
{"id":"MONDO:0011403","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"left ventricular noncompaction 1","equivalent_identifiers":["MONDO:0011403","OMIM:604169","UMLS:C1858725","MESH:C565821","medgen:349005"],"information_content":100.0}
{"id":"MONDO:0011405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"poikiloderma with neutropenia","equivalent_identifiers":["MONDO:0011405","DOID:0060551","OMIM:604173","orphanet:221046","UMLS:C1858723","MESH:C565820","NCIT:C177535","SNOMEDCT:772126000","medgen:388129","ICD10:D82.8"],"information_content":100.0}
{"id":"MONDO:0011407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial paresis, hereditary congenital, 2","equivalent_identifiers":["MONDO:0011407","OMIM:604185","UMLS:C1858717","MESH:C536386","medgen:346971"],"information_content":100.0}
{"id":"MONDO:0011408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 10","equivalent_identifiers":["MONDO:0011408","DOID:0110763","OMIM:604187","orphanet:100991","UMLS:C1858712","MESH:C537482","NCIT:C192058","SNOMEDCT:732948003","medgen:349003"],"information_content":100.0}
{"id":"MONDO:0011411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chudley-McCullough syndrome","equivalent_identifiers":["MONDO:0011411","OMIM:604213","orphanet:314597","UMLS:C1858695","MESH:C535459","SNOMEDCT:773610007","medgen:347699"],"information_content":100.0}
{"id":"MONDO:0011412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial encephalopathy with neuroserpin inclusion bodies","equivalent_identifiers":["MONDO:0011412","DOID:0050831","OMIM:604218","orphanet:85110","UMLS:C1858680","MESH:C536841","SNOMEDCT:702421006","medgen:346965","icd11.foundation:453919434"],"information_content":100.0}
{"id":"MONDO:0011413","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 9 multiple types","equivalent_identifiers":["MONDO:0011413","DOID:0110266","OMIM:604219","UMLS:C1858679","UMLS:C3888098","MESH:C565136","MESH:C565815","medgen:347693"],"information_content":100.0}
{"id":"MONDO:0011414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Peters anomaly","equivalent_identifiers":["MONDO:0011414","DOID:0060673","DOID:0080610","OMIM:604229","orphanet:708","UMLS:C0344559","UMLS:C4310809","MESH:C537884","MEDDRA:10059202","SNOMEDCT:204153003","medgen:91031","icd11.foundation:1902926622","HP:0000659"],"information_content":92.8}
{"id":"MONDO:0011415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 3","equivalent_identifiers":["MONDO:0011415","DOID:0110331","OMIM:604232","UMLS:C1858677","MESH:C565814","medgen:346964"],"information_content":100.0}
{"id":"MONDO:0011416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized epilepsy with febrile seizures plus, type 1","equivalent_identifiers":["MONDO:0011416","DOID:0111302","OMIM:604233","UMLS:C1858672","MESH:C565809","medgen:348994"],"information_content":100.0}
{"id":"MONDO:0011417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemochromatosis type 3","equivalent_identifiers":["MONDO:0011417","DOID:0111030","OMIM:604250","orphanet:225123","UMLS:C1858664","MESH:C537248","SNOMEDCT:719974003","medgen:388114"],"information_content":100.0}
{"id":"MONDO:0011420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature due to partial GHR deficiency","equivalent_identifiers":["MONDO:0011420","OMIM:604271","orphanet:314802","UMLS:C1858656","UMLS:C3888131","MESH:C565805","medgen:346958"],"information_content":100.0}
{"id":"MONDO:0011421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1","equivalent_identifiers":["MONDO:0011421","DOID:0050768","OMIM:604273","UMLS:C3276276","medgen:477906"],"information_content":100.0}
{"id":"MONDO:0011422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive proximal renal tubular acidosis","equivalent_identifiers":["MONDO:0011422","OMIM:604278","orphanet:93607","UMLS:C1970309","MESH:C567038","medgen:370883"],"information_content":100.0}
{"id":"MONDO:0011423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2E","equivalent_identifiers":["MONDO:0011423","DOID:0110279","OMIM:604286","orphanet:119","UMLS:C1858593","MESH:C535902","NCIT:C180849","SNOMEDCT:718850008","medgen:347674"],"information_content":100.0}
{"id":"MONDO:0011424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carney triad","equivalent_identifiers":["MONDO:0011424","OMIM:604287","orphanet:139411","UMLS:C1858592","MESH:C565803","NCIT:C94833","SNOMEDCT:733492003","medgen:388099","icd11.foundation:1771169701"],"information_content":100.0}
{"id":"MONDO:0011425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1H","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0011425","DOID:0110429","OMIM:604288","UMLS:C1858591","MESH:C536277","medgen:348980"],"information_content":100.0}
{"id":"MONDO:0011426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aceruloplasminemia","equivalent_identifiers":["MONDO:0011426","DOID:0050711","OMIM:604290","orphanet:48818","UMLS:C0878682","MEDDRA:10083235","MEDDRA:10083240","NCIT:C189281","SNOMEDCT:124224004","medgen:168057"],"information_content":100.0}
{"id":"MONDO:0011428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3","equivalent_identifiers":["MONDO:0011428","DOID:0060783","OMIM:604292","UMLS:C1858562","MESH:C565799","medgen:347666"],"information_content":100.0}
{"id":"MONDO:0011429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile idiopathic arthritis","equivalent_identifiers":["MONDO:0011429","DOID:676","OMIM:604302","orphanet:92","EFO:0002609","UMLS:C0157916","UMLS:C0157917","UMLS:C0157918","UMLS:C3495559","UMLS:C3714757","MESH:D001171","MEDDRA:10023266","MEDDRA:10023267","MEDDRA:10027842","MEDDRA:10034164","MEDDRA:10034165","MEDDRA:10034166","MEDDRA:10036038","MEDDRA:10059176","MEDDRA:10059177","NCIT:C114357","NCIT:C61279","SNOMEDCT:16024431000119108","SNOMEDCT:410502007","SNOMEDCT:410795001","medgen:760659","icd11.foundation:1322678686","ICD10:M08.4","ICD9:714.3","ICD9:714.31","ICD9:714.32","ICD9:714.33","HP:0005681"],"information_content":83.1}
{"id":"MONDO:0011430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulverulent cataract","equivalent_identifiers":["MONDO:0011430","orphanet:98984","UMLS:C1833118","MESH:C563426","MESH:C565133","SNOMEDCT:1003884001","medgen:318793","icd11.foundation:1046743385","HP:0010693"],"information_content":92.8}
{"id":"MONDO:0011431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MASS syndrome","equivalent_identifiers":["MONDO:0011431","OMIM:604308","UMLS:C1858556","MESH:C536030","medgen:346932"],"information_content":100.0}
{"id":"MONDO:0011432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharophimosis - intellectual disability syndrome, Verloes type","equivalent_identifiers":["MONDO:0011432","OMIM:604314","orphanet:293725","UMLS:C1858538","MESH:C565797","medgen:347661"],"information_content":100.0}
{"id":"MONDO:0011435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 2, primary, autosomal recessive, with or without cortical malformations","equivalent_identifiers":["MONDO:0011435","DOID:0070293","OMIM:604317","UMLS:C1858535","UMLS:C3501830","MESH:C565794","medgen:346929"],"information_content":100.0}
{"id":"MONDO:0011436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive distal spinal muscular atrophy 1","equivalent_identifiers":["MONDO:0011436","DOID:0111064","OMIM:604320","orphanet:98920","UMLS:C1858517","MESH:C536880","SNOMEDCT:711483003","medgen:388083"],"information_content":100.0}
{"id":"MONDO:0011437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 4, primary, autosomal recessive","equivalent_identifiers":["MONDO:0011437","DOID:0070291","OMIM:604321","UMLS:C1858516","MESH:C565792","medgen:347655"],"information_content":100.0}
{"id":"MONDO:0011438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acne","equivalent_identifiers":["MONDO:0011438","DOID:6543","EFO:0003894","UMLS:C0001144","UMLS:C0152249","UMLS:C0702166","UMLS:C4531022","MESH:D000152","MEDDRA:10000496","MEDDRA:10000497","MEDDRA:10000510","MEDDRA:10000518","MEDDRA:10000519","NCIT:C27195","SNOMEDCT:11381005","SNOMEDCT:23894009","SNOMEDCT:88616000","medgen:152379","icd11.foundation:1892393023","ICD10:L70","ICD10:L70.2","ICD9:706.0","HP:0001061"],"information_content":90.9}
{"id":"MONDO:0011439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 12","equivalent_identifiers":["MONDO:0011439","DOID:0050962","OMIM:604326","orphanet:98762","UMLS:C1858501","MESH:C565790","NCIT:C154316","SNOMEDCT:719208005","medgen:347653","icd11.foundation:1210063722"],"information_content":100.0}
{"id":"MONDO:0011442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"advanced sleep phase syndrome 1","equivalent_identifiers":["MONDO:0011442","DOID:0110011","OMIM:604348","UMLS:C3807327","medgen:813657"],"information_content":100.0}
{"id":"MONDO:0011443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"febrile seizures, familial, 4","equivalent_identifiers":["MONDO:0011443","DOID:0111305","OMIM:604352","UMLS:C1858493","MESH:C565788","medgen:347652"],"information_content":100.0}
{"id":"MONDO:0011444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Duane retraction syndrome 2","equivalent_identifiers":["MONDO:0011444","DOID:0061028","OMIM:604356","UMLS:C0751083","UMLS:C1263872","SNOMEDCT:128083007","medgen:196721"],"information_content":100.0}
{"id":"MONDO:0011445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 11","equivalent_identifiers":["MONDO:0011445","DOID:0110764","OMIM:604360","orphanet:2822","UMLS:C1858479","UMLS:C2931821","MESH:C537483","MESH:C538335","NCIT:C148317","SNOMEDCT:715491000","medgen:388073"],"information_content":100.0}
{"id":"MONDO:0011448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PPARG-related familial partial lipodystrophy","equivalent_identifiers":["MONDO:0011448","DOID:0070204","OMIM:604367","orphanet:79083","UMLS:C1720861","SNOMEDCT:1197745002","medgen:328393"],"information_content":100.0}
{"id":"MONDO:0011449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Salla disease","equivalent_identifiers":["MONDO:0011449","OMIM:604369","orphanet:309334","UMLS:C1096903","MEDDRA:10067531","NCIT:C85067","SNOMEDCT:87074006","medgen:203368"],"information_content":100.0}
{"id":"MONDO:0011451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1","equivalent_identifiers":["MONDO:0011451","DOID:0080357","OMIM:604377","UMLS:C1858424","UMLS:C5399977","MESH:C565784","medgen:1748867"],"information_content":100.0}
{"id":"MONDO:0011452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 7","equivalent_identifiers":["MONDO:0011452","DOID:0110704","OMIM:604379","EFO:0009163","UMLS:C1836672","UMLS:C3148823","UMLS:C3148824","MESH:C536973","medgen:322969"],"information_content":100.0}
{"id":"MONDO:0011454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","equivalent_identifiers":["MONDO:0011454","OMIM:604381","orphanet:228190","UMLS:C1858420","MESH:C565782","medgen:346902"],"information_content":100.0}
{"id":"MONDO:0011456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 3","equivalent_identifiers":["MONDO:0011456","DOID:0111114","OMIM:604387","UMLS:C1858392","MESH:C565780","SNOMEDCT:444749006","medgen:346809"],"information_content":100.0}
{"id":"MONDO:0011458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 4","equivalent_identifiers":["MONDO:0011458","DOID:0110332","OMIM:604393","UMLS:C1858386","UMLS:C2751763","UMLS:C2751764","MESH:C565778","medgen:346808"],"information_content":100.0}
{"id":"MONDO:0011459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 5","equivalent_identifiers":["MONDO:0011459","DOID:0110074","OMIM:604400","UMLS:C1858379","MESH:C565776","NCIT:C173470","medgen:346805"],"information_content":100.0}
{"id":"MONDO:0011460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 6","equivalent_identifiers":["MONDO:0011460","DOID:0110075","OMIM:604401","UMLS:C1858378","MESH:C565775","medgen:346892"],"information_content":100.0}
{"id":"MONDO:0011461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized epilepsy with febrile seizures plus, type 2","equivalent_identifiers":["MONDO:0011461","DOID:0111294","OMIM:604403","UMLS:C1858673","MESH:C565810","medgen:388117"],"information_content":100.0}
{"id":"MONDO:0011462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PAPA syndrome","equivalent_identifiers":["MONDO:0011462","DOID:0080519","OMIM:604416","orphanet:69126","UMLS:C1858361","MESH:C536253","MEDDRA:10072222","MEDDRA:10072225","NCIT:C119055","SNOMEDCT:724015007","medgen:346801"],"information_content":100.0}
{"id":"MONDO:0011464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 11","equivalent_identifiers":["MONDO:0011464","DOID:0050961","OMIM:604432","orphanet:98767","UMLS:C1858351","MESH:C565772","SNOMEDCT:719207000","medgen:346799","icd11.foundation:743674840"],"information_content":100.0}
{"id":"MONDO:0011466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal myopathy, Welander type","equivalent_identifiers":["MONDO:0011466","OMIM:604454","orphanet:603","UMLS:C0221054","MEDDRA:10078052","medgen:67441"],"information_content":100.0}
{"id":"MONDO:0011468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary motor and sensory neuropathy, Okinawa type","equivalent_identifiers":["MONDO:0011468","OMIM:604484","orphanet:90117","UMLS:C1858338","MESH:C535717","medgen:346886"],"information_content":95.4}
{"id":"MONDO:0011471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 3","equivalent_identifiers":["MONDO:0011471","DOID:0110891","OMIM:604519","UMLS:C1858303","MESH:C565764","medgen:346785"],"information_content":100.0}
{"id":"MONDO:0011472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex due to plakophilin deficiency","equivalent_identifiers":["MONDO:0011472","OMIM:604536","orphanet:158668","UMLS:C1858302","MESH:C536183","SNOMEDCT:716699004","medgen:388032"],"information_content":100.0}
{"id":"MONDO:0011473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 5","equivalent_identifiers":["MONDO:0011473","DOID:0110215","OMIM:604537","UMLS:C1858301","MESH:C536602","medgen:388031"],"information_content":100.0}
{"id":"MONDO:0011474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive familial heart block type IB","equivalent_identifiers":["MONDO:0011474","DOID:0111076","OMIM:604559","UMLS:C1970298","MESH:C567037","SNOMEDCT:698250005","medgen:370220"],"information_content":100.0}
{"id":"MONDO:0011475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4B2","equivalent_identifiers":["MONDO:0011475","DOID:0110190","OMIM:604563","orphanet:99956","UMLS:C1858278","UMLS:C1858279","UMLS:C1858280","MESH:C535421","MESH:C535422","MESH:C565761","SNOMEDCT:715800000","medgen:346869","icd11.foundation:393759720"],"information_content":100.0}
{"id":"MONDO:0011476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MHC class I deficiency","equivalent_identifiers":["MONDO:0011476","DOID:0060009","OMIM.PS:604571","orphanet:34592","UMLS:C1858266","MESH:C565759","MEDDRA:10086668","NCIT:C171267","SNOMEDCT:725136003","medgen:346868","icd11.foundation:489749747"],"information_content":90.9}
{"id":"MONDO:0011477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth agenesis, selective, 3","equivalent_identifiers":["MONDO:0011477","OMIM:604625","UMLS:C1970291","MESH:C567036","medgen:410035"],"information_content":100.0}
{"id":"MONDO:0011479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Irritable heart","equivalent_identifiers":["MONDO:0011479","DOID:0111154","OMIM:604715","orphanet:443236","EFO:1000645","UMLS:C1299624","UMLS:C2930833","MESH:C531763","MESH:D054972","MEDDRA:10063080","NCIT:C85020","SNOMEDCT:371073003","medgen:226970","icd11.foundation:1533647472","ICD10:I95.1"],"information_content":95.4}
{"id":"MONDO:0011480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 20","equivalent_identifiers":["MONDO:0011480","DOID:0110550","OMIM:604717","UMLS:C1858172","MESH:C565754","medgen:346852"],"information_content":100.0}
{"id":"MONDO:0011481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis 2","equivalent_identifiers":["MONDO:0011481","DOID:0061009","OMIM:604757","orphanet:1541","UMLS:C1858160","MESH:C565753","SNOMEDCT:720817008","medgen:346753"],"information_content":100.0}
{"id":"MONDO:0011482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1I","equivalent_identifiers":["MONDO:0011482","DOID:0110431","OMIM:604765","UMLS:C1858154","MESH:C565752","medgen:387998"],"information_content":100.0}
{"id":"MONDO:0011484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"catecholaminergic polymorphic ventricular tachycardia 1","equivalent_identifiers":["MONDO:0011484","DOID:0060675","OMIM:604772","UMLS:C1631597","UMLS:C1832931","MESH:C563409","NCIT:C123414","medgen:351513","ICD10:I42.8"],"information_content":100.0}
{"id":"MONDO:0011485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis 5","equivalent_identifiers":["MONDO:0011485","DOID:0060714","OMIM:604777","UMLS:C1858133","UMLS:C1858142","MESH:C537265","MESH:C565749","medgen:347628"],"information_content":100.0}
{"id":"MONDO:0011486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital muscular dystrophy 1B","equivalent_identifiers":["MONDO:0011486","DOID:0110634","OMIM:604801","orphanet:98893","UMLS:C1858118","MESH:C565748","SNOMEDCT:764944006","medgen:346746"],"information_content":100.0}
{"id":"MONDO:0011487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Huntington disease-like 3","equivalent_identifiers":["MONDO:0011487","OMIM:604802","orphanet:157946","UMLS:C1858114","MESH:C565747","SNOMEDCT:770939009","medgen:347622"],"information_content":100.0}
{"id":"MONDO:0011488","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 3, primary, autosomal recessive","equivalent_identifiers":["MONDO:0011488","DOID:0070286","OMIM:604804","UMLS:C1858108","MESH:C565746","medgen:347619"],"information_content":100.0}
{"id":"MONDO:0011489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 12","equivalent_identifiers":["MONDO:0011489","DOID:0110765","OMIM:604805","orphanet:100993","UMLS:C1858106","MESH:C537484","SNOMEDCT:763374004","medgen:347618"],"information_content":100.0}
{"id":"MONDO:0011490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse panbronchiolitis","equivalent_identifiers":["MONDO:0011490","OMIM:604809","orphanet:171700","UMLS:C0878555","MESH:C536174","MEDDRA:10062952","NCIT:C202116","SNOMEDCT:430476004","medgen:163897","icd11.foundation:291357751"],"information_content":100.0}
{"id":"MONDO:0011491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, idiopathic generalized, susceptibility to, 7","equivalent_identifiers":["MONDO:0011491","OMIM:604827","UMLS:C2751729","medgen:442800"],"information_content":100.0}
{"id":"MONDO:0011493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stickler syndrome type 2","equivalent_identifiers":["MONDO:0011493","DOID:0080675","OMIM:604841","orphanet:90654","UMLS:C1858084","MESH:C537493","NCIT:C74985","SNOMEDCT:1010664005","medgen:347615","icd11.foundation:1652024415"],"information_content":100.0}
{"id":"MONDO:0011496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis","equivalent_identifiers":["MONDO:0011496","OMIM:604864","orphanet:93279","UMLS:C0432214","MESH:C565740","NCIT:C202115","SNOMEDCT:254064009","medgen:609409","icd11.foundation:690266690"],"information_content":100.0}
{"id":"MONDO:0011497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary North American Indian childhood cirrhosis","equivalent_identifiers":["MONDO:0011497","OMIM:604901","orphanet:168583","UMLS:C1858051","MESH:C565737","SNOMEDCT:699189004","medgen:387974","icd11.foundation:1992710077"],"information_content":100.0}
{"id":"MONDO:0011498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 9","equivalent_identifiers":["MONDO:0011498","DOID:0070085","OMIM:604906","UMLS:C1858050","medgen:346728"],"information_content":100.0}
{"id":"MONDO:0011500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Becker nevus syndrome","equivalent_identifiers":["MONDO:0011500","OMIM:604919","orphanet:64755","UMLS:C1858042","UMLS:C5848751","MESH:C565735","SNOMEDCT:1332335009","medgen:347608"],"information_content":95.4}
{"id":"MONDO:0011501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia","equivalent_identifiers":["MONDO:0011501","OMIM:604922","orphanet:166277","UMLS:C1858032","MESH:C565734","medgen:387969"],"information_content":100.0}
{"id":"MONDO:0011502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolfram syndrome 2","equivalent_identifiers":["MONDO:0011502","DOID:0110630","OMIM:604928","UMLS:C1858028","MESH:C565733","medgen:347604"],"information_content":100.0}
{"id":"MONDO:0011503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortisone reductase deficiency 1","equivalent_identifiers":["MONDO:0011503","DOID:0090141","OMIM:604931","UMLS:C3551716","UMLS:C4330259","NCIT:C131849","medgen:764630"],"information_content":100.0}
{"id":"MONDO:0011504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NDE1-related microhydranencephaly","equivalent_identifiers":["MONDO:0011504","OMIM:605013","orphanet:443162","UMLS:C1857977","MESH:C537555","medgen:341899"],"information_content":100.0}
{"id":"MONDO:0011505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypobetalipoproteinemia 2","equivalent_identifiers":["MONDO:0011505","DOID:0111061","OMIM:605019","UMLS:C1857970","MESH:C565732","medgen:341895"],"information_content":100.0}
{"id":"MONDO:0011506","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial infantile myoclonic epilepsy","equivalent_identifiers":["MONDO:0011506","OMIM:605021","orphanet:352582","UMLS:C0917800","SNOMEDCT:784342008","medgen:181488"],"information_content":100.0}
{"id":"MONDO:0011508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphoma, non-Hodgkin, familial","equivalent_identifiers":["MONDO:0011508","OMIM:605027","UMLS:C4721532","SNOMEDCT:118601006","medgen:1648388"],"information_content":100.0}
{"id":"MONDO:0011510","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bohring-Opitz syndrome","equivalent_identifiers":["MONDO:0011510","OMIM:605039","orphanet:97297","UMLS:C0796232","MESH:C537419","NCIT:C131533","SNOMEDCT:720565000","medgen:208678"],"information_content":100.0}
{"id":"MONDO:0011513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology","equivalent_identifiers":["MONDO:0011513","OMIM:605055","UMLS:C1857933","MESH:C565728","medgen:341884"],"information_content":100.0}
{"id":"MONDO:0011514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tricuspid atresia","equivalent_identifiers":["MONDO:0011514","DOID:0080169","OMIM:605067","orphanet:1209","UMLS:C0243002","MESH:D018785","MEDDRA:10049767","NCIT:C85202","SNOMEDCT:253455004","SNOMEDCT:63042009","medgen:67034","icd11.foundation:845891723","HP:0011662"],"information_content":92.8}
{"id":"MONDO:0011517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohyperaldosteronism type 2","equivalent_identifiers":["MONDO:0011517","OMIM:605115","orphanet:88660","UMLS:C1854631","UMLS:C4707886","MESH:C565359","SNOMEDCT:766937004","medgen:343170","icd11.foundation:538048714"],"information_content":100.0}
{"id":"MONDO:0011518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wiedemann-Steiner syndrome","equivalent_identifiers":["MONDO:0011518","OMIM:605130","orphanet:319182","UMLS:C1854630","UMLS:C2931294","MESH:C536704","MESH:C565358","SNOMEDCT:763618001","medgen:340266"],"information_content":100.0}
{"id":"MONDO:0011519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 23","equivalent_identifiers":["MONDO:0011519","DOID:0110553","OMIM:605192","UMLS:C1854594","MESH:C565357","medgen:343162"],"information_content":100.0}
{"id":"MONDO:0011522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 14","equivalent_identifiers":["MONDO:0011522","DOID:0110767","OMIM:605229","orphanet:100995","UMLS:C1854568","MESH:C537486","SNOMEDCT:783094006","medgen:343157"],"information_content":100.0}
{"id":"MONDO:0011523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 6","equivalent_identifiers":["MONDO:0011523","DOID:0110128","OMIM:605231","UMLS:C1858054","MESH:C565738","medgen:347610"],"information_content":100.0}
{"id":"MONDO:0011527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4E","equivalent_identifiers":["MONDO:0011527","DOID:0110195","OMIM:605253","orphanet:99951","UMLS:C4721436","UMLS:C4721437","UMLS:C4749147","MESH:C535301","SNOMEDCT:763135001","medgen:1648303","icd11.foundation:225958466"],"information_content":100.0}
{"id":"MONDO:0011528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgM syndrome type 2","equivalent_identifiers":["MONDO:0011528","DOID:0060758","OMIM:605258","orphanet:101089","UMLS:C1275128","UMLS:C1720956","NCIT:C129074","SNOMEDCT:403836001","medgen:354548"],"information_content":100.0}
{"id":"MONDO:0011529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 13","equivalent_identifiers":["MONDO:0011529","DOID:0050963","OMIM:605259","orphanet:98768","UMLS:C1854488","MESH:C537195","SNOMEDCT:719209002","medgen:344297","icd11.foundation:1191033828"],"information_content":100.0}
{"id":"MONDO:0011530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesomelic dysplasia, Savarirayan type","equivalent_identifiers":["MONDO:0011530","OMIM:605274","orphanet:85170","UMLS:C1854470","MESH:C565349","SNOMEDCT:715652002","medgen:343129","icd11.foundation:1627637820"],"information_content":100.0}
{"id":"MONDO:0011531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 2","equivalent_identifiers":["MONDO:0011531","DOID:0060580","OMIM:605275","UMLS:C1854469","MESH:C548081","NCIT:C176930","medgen:344290"],"information_content":100.0}
{"id":"MONDO:0011532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 13","equivalent_identifiers":["MONDO:0011532","DOID:0110766","OMIM:605280","orphanet:100994","UMLS:C1854467","MESH:C537485","SNOMEDCT:783698005","medgen:344289"],"information_content":100.0}
{"id":"MONDO:0011533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"temtamy preaxial brachydactyly syndrome","equivalent_identifiers":["MONDO:0011533","DOID:0050814","OMIM:605282","orphanet:363417","UMLS:C1854466","MESH:C536958","SNOMEDCT:777998000","medgen:381425"],"information_content":100.0}
{"id":"MONDO:0011534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4G","equivalent_identifiers":["MONDO:0011534","DOID:0110196","OMIM:605285","orphanet:99953","UMLS:C1854449","MESH:C535813","SNOMEDCT:715799004","medgen:343122","icd11.foundation:995395080"],"information_content":100.0}
{"id":"MONDO:0011535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split hand-foot malformation 4","equivalent_identifiers":["MONDO:0011535","DOID:0090023","OMIM:605289","UMLS:C1854442","MESH:C565344","medgen:343120"],"information_content":100.0}
{"id":"MONDO:0011537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocephaly-autism syndrome","equivalent_identifiers":["MONDO:0011537","DOID:0060867","OMIM:605309","orphanet:210548","UMLS:C1854416","MESH:C565342","medgen:381416"],"information_content":100.0}
{"id":"MONDO:0011538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontoocular syndrome","equivalent_identifiers":["MONDO:0011538","OMIM:605321","UMLS:C1854405","MESH:C565340","medgen:344278"],"information_content":100.0}
{"id":"MONDO:0011539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nemaline myopathy 5","equivalent_identifiers":["MONDO:0011539","DOID:0110936","OMIM:605355","orphanet:98902","UMLS:C1854380","MESH:C538397","SNOMEDCT:1197155007","medgen:344273"],"information_content":100.0}
{"id":"MONDO:0011540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 14","equivalent_identifiers":["MONDO:0011540","DOID:0050964","OMIM:605361","orphanet:98763","UMLS:C1854369","MESH:C537196","SNOMEDCT:719210007","medgen:343106","icd11.foundation:736357100"],"information_content":100.0}
{"id":"MONDO:0011541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1J","equivalent_identifiers":["MONDO:0011541","DOID:0110440","OMIM:605362","orphanet:217622","UMLS:C1854368","MESH:C565337","medgen:343105"],"information_content":100.0}
{"id":"MONDO:0011544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paragangliomas 3","equivalent_identifiers":["MONDO:0011544","OMIM:605373","UMLS:C1854336","MESH:C565335","medgen:340200"],"information_content":100.0}
{"id":"MONDO:0011545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nocturnal frontal lobe epilepsy 3","equivalent_identifiers":["MONDO:0011545","DOID:0060684","OMIM:605375","UMLS:C1854335","MESH:C565334","medgen:344263"],"information_content":100.0}
{"id":"MONDO:0011546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterotaxy, visceral, 2, autosomal","equivalent_identifiers":["MONDO:0011546","DOID:0051017","OMIM:605376","UMLS:C1415817","medgen:237904"],"information_content":100.0}
{"id":"MONDO:0011547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 31 multiple types","equivalent_identifiers":["MONDO:0011547","DOID:0110265","OMIM:605387","UMLS:C1854311","MESH:C535343","medgen:343089"],"information_content":100.0}
{"id":"MONDO:0011548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral palsy, ataxic, autosomal recessive","equivalent_identifiers":["MONDO:0011548","OMIM:605388"],"information_content":100.0}
{"id":"MONDO:0011549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 1","equivalent_identifiers":["MONDO:0011549","DOID:0110698","OMIM:605389","UMLS:C4551976","medgen:1644234"],"information_content":100.0}
{"id":"MONDO:0011551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TH-deficient dopa-responsive dystonia","equivalent_identifiers":["MONDO:0011551","OMIM:605407","orphanet:101150","UMLS:C2673535","SNOMEDCT:715827001","medgen:382128"],"information_content":100.0}
{"id":"MONDO:0011552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 10","equivalent_identifiers":["MONDO:0011552","DOID:0070086","OMIM:605419","UMLS:C0036344","UMLS:C0543918","MESH:D012560","MEDDRA:10007780","MEDDRA:10007782","MEDDRA:10039637","NCIT:C35003","SNOMEDCT:191542003","medgen:107776"],"information_content":100.0}
{"id":"MONDO:0011553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 26","equivalent_identifiers":["MONDO:0011553","DOID:0110484","OMIM:605428","UMLS:C1854275","MESH:C565329","medgen:340185"],"information_content":100.0}
{"id":"MONDO:0011555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","equivalent_identifiers":["MONDO:0011555","OMIM.PS:605432","orphanet:71289","UMLS:C1854273","UMLS:C4303670","MESH:C565328","SNOMEDCT:721882001","medgen:340183"],"information_content":92.8}
{"id":"MONDO:0011556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"basal cell carcinoma, susceptibility to, 1","equivalent_identifiers":["MONDO:0011556","OMIM:605462","UMLS:C1854245","UMLS:C2751544","UMLS:C2751545","MESH:C537656","MESH:C567789","medgen:414403"],"information_content":100.0}
{"id":"MONDO:0011558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 2C","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0011558","DOID:0110839","OMIM:605472","UMLS:C2931213","UMLS:C3148929","MESH:C536492","NCIT:C153174","medgen:419359"],"information_content":100.0}
{"id":"MONDO:0011559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign recurrent intrahepatic cholestasis type 2","equivalent_identifiers":["MONDO:0011559","DOID:0070232","OMIM:605479","orphanet:99961","UMLS:C2608083","MESH:C535934","medgen:435857"],"information_content":95.4}
{"id":"MONDO:0011562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Parkinson disease 4","equivalent_identifiers":["MONDO:0011562","DOID:0060895","OMIM:605543","UMLS:C1854182","MESH:C565324","NCIT:C198604","medgen:381361"],"information_content":100.0}
{"id":"MONDO:0011564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 8","equivalent_identifiers":["MONDO:0011564","DOID:0111014","OMIM:605549","UMLS:C1854180","MESH:C565322","medgen:381360"],"information_content":100.0}
{"id":"MONDO:0011565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metabolic syndrome X","equivalent_identifiers":["MONDO:0011565","DOID:14221","OMIM:605552","EFO:0000195","UMLS:C1854178","UMLS:C1970051","UMLS:C4552048","MESH:D024821","SNOMEDCT:237602007","medgen:1640883","ICD10:E88.81","ICD9:277.7"],"information_content":100.0}
{"id":"MONDO:0011566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abdominal obesity-metabolic syndrome quantitative trait locus 2","equivalent_identifiers":["MONDO:0011566","OMIM:605572","UMLS:C1854170","medgen:344224"],"information_content":100.0}
{"id":"MONDO:0011567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1K","equivalent_identifiers":["MONDO:0011567","DOID:0110437","OMIM:605582","UMLS:C1854159","MESH:C565320","medgen:381354"],"information_content":100.0}
{"id":"MONDO:0011568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 25","equivalent_identifiers":["MONDO:0011568","DOID:0110555","OMIM:605583","UMLS:C1854158","MESH:C565319","medgen:344221"],"information_content":100.0}
{"id":"MONDO:0011569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2B1","equivalent_identifiers":["MONDO:0011569","DOID:0110156","OMIM:605588","orphanet:98856","UMLS:C1854154","MESH:C537990","SNOMEDCT:725048002","medgen:343064","icd11.foundation:957134152"],"information_content":100.0}
{"id":"MONDO:0011570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2B2","equivalent_identifiers":["MONDO:0011570","DOID:0110179","OMIM:605589","orphanet:101101","UMLS:C1854150","MESH:C537991","SNOMEDCT:719981005","medgen:381352","icd11.foundation:2009111705"],"information_content":100.0}
{"id":"MONDO:0011571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, autosomal dominant 39, with dentinogenesis imperfecta 1","equivalent_identifiers":["MONDO:0011571","OMIM:605594","UMLS:C1854146","MESH:C565316","medgen:340145"],"information_content":100.0}
{"id":"MONDO:0011573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis 7","equivalent_identifiers":["MONDO:0011573","DOID:0111279","OMIM:605606","UMLS:C1854124","medgen:343057"],"information_content":100.0}
{"id":"MONDO:0011575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebrooculonasal syndrome","equivalent_identifiers":["MONDO:0011575","OMIM:605627","orphanet:66625","UMLS:C1854108","MESH:C565313","SNOMEDCT:720855003","medgen:340138"],"information_content":100.0}
{"id":"MONDO:0011576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hyperaldosteronism type II","equivalent_identifiers":["MONDO:0011576","OMIM:605635","orphanet:404","UMLS:C1854107","MESH:C565312","NCIT:C127162","SNOMEDCT:703233008","medgen:340137"],"information_content":100.0}
{"id":"MONDO:0011577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, proximal, and ophthalmoplegia","equivalent_identifiers":["MONDO:0011577","DOID:0080719","OMIM:605637","UMLS:C1854106","MESH:C565311","medgen:381340"],"information_content":92.8}
{"id":"MONDO:0011578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial papillary thyroid carcinoma with renal papillary neoplasia","equivalent_identifiers":["MONDO:0011578","OMIM:605642","orphanet:97290","UMLS:C1854104","MESH:C565310","SNOMEDCT:717734005","medgen:381339"],"information_content":100.0}
{"id":"MONDO:0011579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late-onset retinal degeneration","equivalent_identifiers":["MONDO:0011579","DOID:0060869","OMIM:605670","orphanet:67042","UMLS:C1854065","MESH:C565309","NCIT:C202070","SNOMEDCT:719431007","medgen:344198"],"information_content":100.0}
{"id":"MONDO:0011581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic cardiomyopathy with wooly hair and keratoderma","equivalent_identifiers":["MONDO:0011581","DOID:0090128","OMIM:605676","orphanet:65282","UMLS:C1854063","MESH:C535581","SNOMEDCT:719835006","medgen:340124"],"information_content":95.4}
{"id":"MONDO:0011582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple mitochondrial dysfunctions syndrome 1","equivalent_identifiers":["MONDO:0011582","DOID:0080133","OMIM:605711","orphanet:401869","UMLS:C3276432","SNOMEDCT:1208485009","medgen:478062"],"information_content":100.0}
{"id":"MONDO:0011583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral amyloid angiopathy, APP-related","equivalent_identifiers":["MONDO:0011583","DOID:0070028","OMIM:605714","UMLS:C2751536","MESH:C537944","NCIT:C157147","medgen:414044"],"information_content":87.2}
{"id":"MONDO:0011584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group D1","equivalent_identifiers":["MONDO:0011584","DOID:0111089","OMIM:605724","orphanet:319462","UMLS:C1838457","UMLS:C4707792","MESH:C563980","NCIT:C125705","SNOMEDCT:766707003","medgen:325420"],"information_content":92.8}
{"id":"MONDO:0011585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive distal spinal muscular atrophy 2","equivalent_identifiers":["MONDO:0011585","DOID:0111065","OMIM:605726","orphanet:139552","UMLS:C1854023","MESH:C535715","SNOMEDCT:763533003","medgen:344189"],"information_content":100.0}
{"id":"MONDO:0011588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 12","equivalent_identifiers":["MONDO:0011588","DOID:0111058","OMIM:605735","UMLS:C2751535","MESH:C567786","medgen:414043"],"information_content":100.0}
{"id":"MONDO:0011592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exudative vitreoretinopathy 3","equivalent_identifiers":["MONDO:0011592","DOID:0111409","OMIM:605750","UMLS:C1854002","MESH:C565297","medgen:344184"],"information_content":100.0}
{"id":"MONDO:0011593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures, benign familial infantile, 2","equivalent_identifiers":["MONDO:0011593","DOID:0081115","OMIM:605751","UMLS:C1853995","MESH:C565296","medgen:381313"],"information_content":100.0}
{"id":"MONDO:0011595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonsyndromic congenital nail disorder 7","equivalent_identifiers":["MONDO:0011595","DOID:0080085","OMIM:605779","orphanet:79144","UMLS:C1274658","UMLS:C1853984","UMLS:C5574953","MESH:C538333","SNOMEDCT:1254893000","SNOMEDCT:403281007","medgen:1803839"],"information_content":100.0}
{"id":"MONDO:0011596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatitis, atopic, 2","equivalent_identifiers":["MONDO:0011596","DOID:0110098","OMIM:605803","UMLS:C1853965","MESH:C565293","medgen:340100"],"information_content":100.0}
{"id":"MONDO:0011599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"birdshot chorioretinopathy","equivalent_identifiers":["MONDO:0011599","DOID:0111079","OMIM:605808","orphanet:179","UMLS:C1853959","MESH:C537630","MESH:D000080365","MEDDRA:10072959","SNOMEDCT:231981005","medgen:340098","icd11.foundation:1954035043","HP:0030952"],"information_content":100.0}
{"id":"MONDO:0011600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 4A","equivalent_identifiers":["MONDO:0011600","DOID:0110678","OMIM:605809","UMLS:C4225413","medgen:908188"],"information_content":100.0}
{"id":"MONDO:0011601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal intrahepatic cholestasis due to citrin deficiency","equivalent_identifiers":["MONDO:0011601","DOID:0070341","OMIM:605814","orphanet:247598","UMLS:C1853942","MESH:C536398","SNOMEDCT:717155003","medgen:340091"],"information_content":100.0}
{"id":"MONDO:0011602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 27","equivalent_identifiers":["MONDO:0011602","DOID:0110485","OMIM:605818","UMLS:C1853941","MESH:C565287","medgen:381303"],"information_content":100.0}
{"id":"MONDO:0011603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GNE myopathy","equivalent_identifiers":["MONDO:0011603","DOID:0080718","OMIM:605820","orphanet:602","UMLS:C1833373","UMLS:C1853926","MESH:C536816","MESH:C538329","MEDDRA:10075048","MEDDRA:10077945","NCIT:C176900","SNOMEDCT:702382000","medgen:381298"],"information_content":100.0}
{"id":"MONDO:0011604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylo-ocular syndrome","equivalent_identifiers":["MONDO:0011604","OMIM:605822","orphanet:85194","UMLS:C4225412","SNOMEDCT:715653007","medgen:900371","icd11.foundation:1611450426"],"information_content":100.0}
{"id":"MONDO:0011605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized basaloid follicular hamartoma syndrome","equivalent_identifiers":["MONDO:0011605","OMIM:605827","orphanet:168632","UMLS:C1853919","UMLS:C4707879","MESH:C565284","SNOMEDCT:766928004","medgen:343009"],"information_content":100.0}
{"id":"MONDO:0011610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dimethylglycine dehydrogenase deficiency","equivalent_identifiers":["MONDO:0011610","DOID:0081446","OMIM:605850","orphanet:243343","UMLS:C1853892","MESH:C565278","SNOMEDCT:719449007","medgen:343006"],"information_content":90.9}
{"id":"MONDO:0011612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycine encephalopathy","equivalent_identifiers":["MONDO:0011612","DOID:9268","OMIM.PS:605899","orphanet:407","UMLS:C0751748","MESH:D020158","MEDDRA:10070639","MEDDRA:10070641","MEDDRA:10080889","NCIT:C84937","SNOMEDCT:237939006","medgen:155625","icd11.foundation:1491869639","ICD10:E72.51","HP:0008288"],"information_content":88.2}
{"id":"MONDO:0011613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive early-onset Parkinson disease 6","equivalent_identifiers":["MONDO:0011613","DOID:0060369","OMIM:605909","UMLS:C1853833","UMLS:C1970035","MESH:C565276","NCIT:C184990","medgen:342982"],"information_content":100.0}
{"id":"MONDO:0011614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency","equivalent_identifiers":["MONDO:0011614","DOID:0081168","OMIM:605911","orphanet:35701","UMLS:C2751532","UMLS:C4510940","MESH:C567784","SNOMEDCT:725286002","medgen:414399"],"information_content":100.0}
{"id":"MONDO:0011615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"East Texas bleeding disorder","equivalent_identifiers":["MONDO:0011615","OMIM:605913","orphanet:391320","UMLS:C1853831","MESH:C565275","medgen:342980"],"information_content":100.0}
{"id":"MONDO:0011620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal dysplasia, Braun-Tinschert type","equivalent_identifiers":["MONDO:0011620","OMIM:605946","orphanet:85188","UMLS:C1853825","MESH:C565271","SNOMEDCT:717221005","medgen:381277"],"information_content":100.0}
{"id":"MONDO:0011621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acropectoral syndrome","equivalent_identifiers":["MONDO:0011621","OMIM:605967","orphanet:85203","UMLS:C1853812","MESH:C535664","SNOMEDCT:720412009","medgen:342975","icd11.foundation:1060723089"],"information_content":100.0}
{"id":"MONDO:0011622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrolithiasis, uric acid, susceptibility to","equivalent_identifiers":["MONDO:0011622","OMIM:605990","UMLS:C2700426","medgen:397793"],"information_content":100.0}
{"id":"MONDO:0011624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transaldolase deficiency","equivalent_identifiers":["MONDO:0011624","OMIM:606003","orphanet:101028","UMLS:C1291329","MESH:C563207","SNOMEDCT:124252008","medgen:224855","icd11.foundation:424536994"],"information_content":100.0}
{"id":"MONDO:0011625","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 18","equivalent_identifiers":["MONDO:0011625","DOID:0110549","OMIM:606012","UMLS:C1853760","MESH:C565267","medgen:340051"],"information_content":100.0}
{"id":"MONDO:0011627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, 5","equivalent_identifiers":["MONDO:0011627","OMIM:606053","UMLS:C1853755","medgen:340048"],"information_content":100.0}
{"id":"MONDO:0011628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"propionic acidemia","equivalent_identifiers":["MONDO:0011628","DOID:14701","OMIM:606054","orphanet:35","UMLS:C0268579","UMLS:C2717876","MESH:D056693","MEDDRA:10080607","MEDDRA:10080611","MEDDRA:10080615","MEDDRA:10080616","NCIT:C85030","SNOMEDCT:69080001","medgen:75694","ICD10:E71.121","HP:0003571"],"information_content":100.0}
{"id":"MONDO:0011629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MOGS-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0011629","DOID:0070254","OMIM:606056","orphanet:79330","UMLS:C1853736","MESH:C565264","SNOMEDCT:725028009","medgen:342954"],"information_content":100.0}
{"id":"MONDO:0011630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 28","equivalent_identifiers":["MONDO:0011630","DOID:0110365","OMIM:606068","UMLS:C1419614","medgen:244030"],"information_content":100.0}
{"id":"MONDO:0011631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemochromatosis type 4","equivalent_identifiers":["MONDO:0011631","DOID:0111028","OMIM:606069","orphanet:647834","orphanet:648562","UMLS:C1853733","MESH:C537249","MEDDRA:10083956","SNOMEDCT:1303911001","SNOMEDCT:719975002","medgen:340044"],"information_content":100.0}
{"id":"MONDO:0011632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 21","equivalent_identifiers":["MONDO:0011632","DOID:0060212","OMIM:606070","UMLS:C3807521","NCIT:C168755","medgen:813851"],"information_content":100.0}
{"id":"MONDO:0011633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2C","equivalent_identifiers":["MONDO:0011633","DOID:0110182","OMIM:606071","orphanet:99937","UMLS:C1853710","MESH:C565261","SNOMEDCT:717010007","medgen:342947"],"information_content":100.0}
{"id":"MONDO:0011638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroferritinopathy","equivalent_identifiers":["MONDO:0011638","DOID:0110737","OMIM:606159","orphanet:157846","UMLS:C1853578","MESH:C548080","SNOMEDCT:699299001","medgen:381211"],"information_content":100.0}
{"id":"MONDO:0011639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 15 with mandibulofacial dysostosis","equivalent_identifiers":["MONDO:0011639","DOID:0111894","OMIM:606164","UMLS:C4225411","medgen:902755"],"information_content":100.0}
{"id":"MONDO:0011640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"genitopatellar syndrome","equivalent_identifiers":["MONDO:0011640","OMIM:606170","orphanet:85201","UMLS:C1853566","MESH:C565255","SNOMEDCT:702367005","medgen:381208"],"information_content":100.0}
{"id":"MONDO:0011650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrioventricular septal defect, susceptibility to, 2","equivalent_identifiers":["MONDO:0011650","OMIM:606217","UMLS:C1853508","UMLS:C1853509","MESH:C565249","medgen:381193"],"information_content":100.0}
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{"id":"MONDO:0011660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 22","equivalent_identifiers":["MONDO:0011660","DOID:0110552","OMIM:606346","UMLS:C2931767","UMLS:C3149009","MESH:C538197","medgen:419894"],"information_content":100.0}
{"id":"MONDO:0011663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile primary lateral sclerosis","equivalent_identifiers":["MONDO:0011663","OMIM:606353","orphanet:247604","UMLS:C1853396","MESH:C536416","SNOMEDCT:717964007","medgen:342870"],"information_content":100.0}
{"id":"MONDO:0011664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency due to CD25 deficiency","equivalent_identifiers":["MONDO:0011664","DOID:0111968","OMIM:606367","orphanet:169100","UMLS:C1853392","MESH:C565232","medgen:377894","icd11.foundation:1705860123"],"information_content":100.0}
{"id":"MONDO:0011667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 4","equivalent_identifiers":["MONDO:0011667","DOID:0111103","OMIM:606392","UMLS:C1833382","MESH:C563451","NCIT:C129746","SNOMEDCT:609571007","medgen:318863"],"information_content":100.0}
{"id":"MONDO:0011668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MODY, Type 6","equivalent_identifiers":["MONDO:0011668","DOID:0111104","OMIM:606394","UMLS:C1853371","MESH:C565231","NCIT:C129745","SNOMEDCT:609573005","medgen:344030"],"information_content":100.0}
{"id":"MONDO:0011669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotonia-cystinuria syndrome","equivalent_identifiers":["MONDO:0011669","DOID:0060858","OMIM:606407","orphanet:163690","orphanet:238517","UMLS:C1848030","MESH:C564710","MEDDRA:10083099","SNOMEDCT:721173005","medgen:341133","icd11.foundation:1742079513","icd11.foundation:1852649756","ICD10:E72.0"],"information_content":95.4}
{"id":"MONDO:0011670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome due to tenascin-X deficiency","equivalent_identifiers":["MONDO:0011670","DOID:0080731","OMIM:606408","orphanet:230839","UMLS:C1848029","MESH:C536193","SNOMEDCT:778022009","medgen:336244","icd11.foundation:1840696236"],"information_content":100.0}
{"id":"MONDO:0011671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Huntington disease-like 2","equivalent_identifiers":["MONDO:0011671","DOID:0090104","OMIM:606438","orphanet:98934","UMLS:C1847987","MESH:C564708","SNOMEDCT:721228006","medgen:341120"],"information_content":100.0}
{"id":"MONDO:0011672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent polyclonal B-cell lymphocytosis","equivalent_identifiers":["MONDO:0011672","OMIM:606445","orphanet:300324","UMLS:C1847973","MESH:C564707","SNOMEDCT:763864008","medgen:341117"],"information_content":100.0}
{"id":"MONDO:0011673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 30","equivalent_identifiers":["MONDO:0011673","DOID:0110560","OMIM:606451","UMLS:C1847972","MESH:C564706","medgen:341116"],"information_content":100.0}
{"id":"MONDO:0011674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease dominant intermediate B","equivalent_identifiers":["MONDO:0011674","DOID:0110197","OMIM:606482","orphanet:100044","UMLS:C1847902","UMLS:C1847903","MESH:C564703","MESH:C564704","SNOMEDCT:765745007","medgen:338346"],"information_content":95.4}
{"id":"MONDO:0011675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth Disease, axonal, type 2GG","equivalent_identifiers":["MONDO:0011675","DOID:0110202","OMIM:606483","orphanet:100043","UMLS:C5561933","MESH:C564702","SNOMEDCT:765744006","medgen:1794143"],"information_content":100.0}
{"id":"MONDO:0011676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PHACE syndrome","equivalent_identifiers":["MONDO:0011676","OMIM:606519","orphanet:42775","UMLS:C1847874","MESH:C537892","medgen:376231","icd11.foundation:1825849023"],"information_content":100.0}
{"id":"MONDO:0011678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"homozygous 11P15-p14 deletion syndrome","equivalent_identifiers":["MONDO:0011678","OMIM:606528","UMLS:C1847866","MESH:C564701","medgen:338336"],"information_content":100.0}
{"id":"MONDO:0011680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis 3","equivalent_identifiers":["MONDO:0011680","DOID:0060711","OMIM:606545","UMLS:C1847849","UMLS:C3539888","MESH:C564699","medgen:761665"],"information_content":100.0}
{"id":"MONDO:0011681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic ataxia type 4","equivalent_identifiers":["MONDO:0011681","DOID:0050992","OMIM:606552","orphanet:79136","UMLS:C1847843","MESH:C564698","SNOMEDCT:718754008","medgen:376222","icd11.foundation:1119711189"],"information_content":100.0}
{"id":"MONDO:0011682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic ataxia type 3","equivalent_identifiers":["MONDO:0011682","DOID:0050991","OMIM:606554","orphanet:79135","UMLS:C1847839","MESH:C564697","SNOMEDCT:718755009","medgen:376220"],"information_content":100.0}
{"id":"MONDO:0011683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 4","equivalent_identifiers":["MONDO:0011683","DOID:0070098","OMIM:606574","orphanet:79435","UMLS:C1847836","MESH:C564696","SNOMEDCT:715632003","medgen:338324","icd11.foundation:1286886811"],"information_content":100.0}
{"id":"MONDO:0011684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitiligo-associated multiple autoimmune disease susceptibility 1","equivalent_identifiers":["MONDO:0011684","OMIM:606579","UMLS:C1847835","medgen:335788"],"information_content":100.0}
{"id":"MONDO:0011685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polysubstance abuse, susceptibility to","equivalent_identifiers":["MONDO:0011685","OMIM:606581","UMLS:C1847831","medgen:339856"],"information_content":100.0}
{"id":"MONDO:0011686","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LIG4 Syndrome","equivalent_identifiers":["MONDO:0011686","DOID:0060021","OMIM:606593","orphanet:99812","UMLS:C1847827","MESH:C564694","NCIT:C122657","SNOMEDCT:724177005","medgen:339855"],"information_content":100.0}
{"id":"MONDO:0011687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2F","equivalent_identifiers":["MONDO:0011687","DOID:0110163","OMIM:606595","orphanet:99940","UMLS:C1847823","MESH:C535413","SNOMEDCT:719510006","medgen:335784"],"information_content":100.0}
{"id":"MONDO:0011688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy type B5","equivalent_identifiers":["MONDO:0011688","DOID:0110635","OMIM:606612","UMLS:C1847759","MESH:C564691","medgen:335764"],"information_content":100.0}
{"id":"MONDO:0011690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Camurati-Engelmann disease, type 2","equivalent_identifiers":["MONDO:0011690","OMIM:606631","UMLS:C2931683","MESH:C537978","medgen:419470"],"information_content":100.0}
{"id":"MONDO:0011691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 3","equivalent_identifiers":["MONDO:0011691","DOID:0060195","OMIM:606640","UMLS:C1847735","MESH:C564688","SNOMEDCT:1201950008","medgen:339829"],"information_content":100.0}
{"id":"MONDO:0011693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma, normal tension, susceptibility to","equivalent_identifiers":["MONDO:0011693","OMIM:606657","UMLS:C1847730","medgen:335756"],"information_content":100.0}
{"id":"MONDO:0011694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 15/16","equivalent_identifiers":["MONDO:0011694","DOID:0050965","OMIM:606658","orphanet:98769","UMLS:C1847725","MESH:C564685","NCIT:C150250","SNOMEDCT:716724006","medgen:338301"],"information_content":100.0}
{"id":"MONDO:0011698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycine N-methyltransferase deficiency","equivalent_identifiers":["MONDO:0011698","DOID:0111037","OMIM:606664","orphanet:289891","UMLS:C1847720","SNOMEDCT:763720007","medgen:338300","icd11.foundation:16192453","ICD10:E72.1"],"information_content":100.0}
{"id":"MONDO:0011702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1L","equivalent_identifiers":["MONDO:0011702","DOID:0110436","OMIM:606685","UMLS:C1847667","MESH:C564679","medgen:335735"],"information_content":100.0}
{"id":"MONDO:0011703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spongiform encephalopathy with neuropsychiatric features","equivalent_identifiers":["MONDO:0011703","OMIM:606688","UMLS:C1847650","MESH:C564678","medgen:339812"],"information_content":100.0}
{"id":"MONDO:0011705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphangioleiomyomatosis","equivalent_identifiers":["MONDO:0011705","OMIM:606690","UMLS:C0238399","UMLS:C0751674","MESH:D018192","MEDDRA:10049459","MEDDRA:10049462","NCIT:C3725","SNOMEDCT:73017001","medgen:148366","icd11.foundation:902628446","HP:0012798"],"information_content":92.8}
{"id":"MONDO:0011706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kufor-Rakeb syndrome","equivalent_identifiers":["MONDO:0011706","DOID:0060556","OMIM:606693","orphanet:306674","UMLS:C1847640","MESH:C537177","NCIT:C203534","SNOMEDCT:723992000","medgen:338281"],"information_content":95.4}
{"id":"MONDO:0011708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 36","equivalent_identifiers":["MONDO:0011708","DOID:0110563","OMIM:606705","UMLS:C1847626","MESH:C564675","NCIT:C174444","medgen:376173"],"information_content":100.0}
{"id":"MONDO:0011710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"specific language impairment 1","equivalent_identifiers":["MONDO:0011710","OMIM:606711","UMLS:C1847614","medgen:339804"],"information_content":100.0}
{"id":"MONDO:0011711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"specific language impairment 2","equivalent_identifiers":["MONDO:0011711","OMIM:606712","UMLS:C1847605","medgen:338273"],"information_content":100.0}
{"id":"MONDO:0011712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van der Woude syndrome 2","equivalent_identifiers":["MONDO:0011712","OMIM:606713","UMLS:C1847604","MESH:C536529","medgen:338272"],"information_content":100.0}
{"id":"MONDO:0011714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome","equivalent_identifiers":["MONDO:0011714","OMIM:606721","UMLS:C3807567","medgen:813897"],"information_content":100.0}
{"id":"MONDO:0011715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 2","equivalent_identifiers":["MONDO:0011715","DOID:0070013","OMIM:606744","UMLS:C1847572","MESH:C537534","medgen:338264"],"information_content":100.0}
{"id":"MONDO:0011717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinism-hyperammonemia syndrome","equivalent_identifiers":["MONDO:0011717","DOID:0070217","OMIM:606762","orphanet:35878","UMLS:C1847555","MESH:C538375","MEDDRA:10077860","MEDDRA:10077865","NCIT:C131832","SNOMEDCT:718106009","medgen:376153"],"information_content":100.0}
{"id":"MONDO:0011718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 2","equivalent_identifiers":["MONDO:0011718","DOID:0110626","OMIM:606763","UMLS:C1847554","MESH:C535277","medgen:338258"],"information_content":100.0}
{"id":"MONDO:0011719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Plexosarcoma","equivalent_identifiers":["MONDO:0011719","DOID:9253","OMIM:606764","orphanet:44890","UMLS:C0238198","UMLS:C1704399","UMLS:C2931518","UMLS:C3179349","MESH:C537517","MESH:D046152","MEDDRA:10051066","MEDDRA:10062427","MEDDRA:10091282","MEDDRA:10091288","NCIT:C27940","NCIT:C3868","NCIT:C53999","NCIT:C54000","SNOMEDCT:1187383001","SNOMEDCT:128755003","SNOMEDCT:128756002","SNOMEDCT:420120006","medgen:116049","ICD10:C49.A","HP:0100723"],"information_content":72.4}
{"id":"MONDO:0011720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 3","equivalent_identifiers":["MONDO:0011720","DOID:0070168","OMIM:606766","UMLS:C1847540","UMLS:C4721889","MESH:C564665","medgen:1648302"],"information_content":100.0}
{"id":"MONDO:0011721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal myopathy with anterior tibial onset","equivalent_identifiers":["MONDO:0011721","DOID:0111187","OMIM:606768","orphanet:178400","UMLS:C1847532","MESH:C564664","SNOMEDCT:782675008","medgen:335706","icd11.foundation:651559966"],"information_content":100.0}
{"id":"MONDO:0011722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MOMES Syndrome","equivalent_identifiers":["MONDO:0011722","OMIM:606772","orphanet:397973","UMLS:C1847522","MESH:C564660","SNOMEDCT:774102003","medgen:376145"],"information_content":100.0}
{"id":"MONDO:0011723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemifacial myohyperplasia","equivalent_identifiers":["MONDO:0011723","OMIM:606773","orphanet:141148","UMLS:C1847521","MESH:C535862","SNOMEDCT:699420006","medgen:339781","icd11.foundation:1338941880"],"information_content":100.0}
{"id":"MONDO:0011724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy due to GLUT1 deficiency","equivalent_identifiers":["MONDO:0011724","DOID:0070561","OMIM:606777","orphanet:71277","UMLS:C3149117","UMLS:C4551966","MESH:C536830","NCIT:C168599","medgen:1645412","icd11.foundation:1231079185"],"information_content":100.0}
{"id":"MONDO:0011725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crigler-Najjar syndrome type 2","equivalent_identifiers":["MONDO:0011725","OMIM:606785","orphanet:79235","UMLS:C2931132","MESH:C536213","MEDDRA:10011387","SNOMEDCT:68067009","medgen:419718","icd11.foundation:846453488"],"information_content":100.0}
{"id":"MONDO:0011728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharospasm","equivalent_identifiers":["MONDO:0011728","DOID:529","UMLS:C0005747","UMLS:C2930898","MESH:C535428","MESH:D001764","MEDDRA:10005159","MEDDRA:10041384","MEDDRA:10064261","NCIT:C118723","SNOMEDCT:59026006","medgen:419660","icd11.foundation:1127235959","ICD10:G24.5","ICD9:333.81","HP:0000643"],"information_content":95.4}
{"id":"MONDO:0011730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fumaric aciduria","equivalent_identifiers":["MONDO:0011730","DOID:0111261","OMIM:606812","orphanet:24","UMLS:C0342770","UMLS:C2936826","MESH:C538191","MEDDRA:10088204","SNOMEDCT:237983002","medgen:87458"],"information_content":100.0}
{"id":"MONDO:0011731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucose-galactose malabsorption","equivalent_identifiers":["MONDO:0011731","DOID:0070563","OMIM:606824","orphanet:35710","UMLS:C0268186","MESH:C562602","MEDDRA:10066388","SNOMEDCT:190749000","medgen:78647","icd11.foundation:2108415931"],"information_content":95.4}
{"id":"MONDO:0011732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial digital arthropathy-brachydactyly","equivalent_identifiers":["MONDO:0011732","OMIM:606835","orphanet:85169","UMLS:C1847406","MESH:C564656","NCIT:C175208","medgen:335678"],"information_content":100.0}
{"id":"MONDO:0011733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parasomnia, sleep bruxism type","equivalent_identifiers":["MONDO:0011733","OMIM:606840","UMLS:C1847399","UMLS:C3149124","MESH:C536389","medgen:339751"],"information_content":100.0}
{"id":"MONDO:0011734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cardioneuromyopathy with hyaline masses and nemaline rods","equivalent_identifiers":["MONDO:0011734","OMIM:606842","UMLS:C1847387","MESH:C564655","medgen:339747"],"information_content":100.0}
{"id":"MONDO:0011735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgM syndrome type 3","equivalent_identifiers":["MONDO:0011735","DOID:0060023","OMIM:606843","orphanet:101090","UMLS:C1720957","NCIT:C176416","medgen:328419"],"information_content":100.0}
{"id":"MONDO:0011736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cree intellectual disability syndrome","equivalent_identifiers":["MONDO:0011736","OMIM:606851","UMLS:C1847361","MESH:C564654","medgen:335673"],"information_content":100.0}
{"id":"MONDO:0011738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral frontoparietal polymicrogyria","equivalent_identifiers":["MONDO:0011738","DOID:0080922","OMIM:606854","orphanet:101070","UMLS:C1847352","MESH:C564652","NCIT:C148367","SNOMEDCT:890286007","medgen:376107","icd11.foundation:1119484699"],"information_content":100.0}
{"id":"MONDO:0011743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 4","equivalent_identifiers":["MONDO:0011743","DOID:0110040","OMIM:606889","UMLS:C1847200","MESH:C536596","NCIT:C123413","medgen:376072"],"information_content":100.0}
{"id":"MONDO:0011744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary intraosseous venous malformation","equivalent_identifiers":["MONDO:0011744","OMIM:606893","orphanet:140436","UMLS:C1847197","MESH:C564648","SNOMEDCT:764100007","medgen:376071"],"information_content":100.0}
{"id":"MONDO:0011746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch","equivalent_identifiers":["MONDO:0011746","OMIM:606895","UMLS:C1847185","MESH:C538148","medgen:376067"],"information_content":100.0}
{"id":"MONDO:0011748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 1G","equivalent_identifiers":["MONDO:0011748","DOID:0110834","OMIM:606943","UMLS:C1847089","MESH:C564643","medgen:339683"],"information_content":100.0}
{"id":"MONDO:0011749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 1B","equivalent_identifiers":["MONDO:0011749","DOID:0070095","OMIM:606952","orphanet:79434","UMLS:C1847024","MESH:C537729","SNOMEDCT:82342003","medgen:337712","icd11.foundation:1233842528"],"information_content":100.0}
{"id":"MONDO:0011752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 4","equivalent_identifiers":["MONDO:0011752","DOID:0111115","OMIM:606966","UMLS:C1847013","UMLS:C2959367","MESH:C564640","SNOMEDCT:446989009","medgen:339667"],"information_content":100.0}
{"id":"MONDO:0011755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"senior-loken syndrome 3","equivalent_identifiers":["MONDO:0011755","OMIM:606995","UMLS:C1846980","MESH:C564637","medgen:335569"],"information_content":100.0}
{"id":"MONDO:0011756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Loken syndrome 4","equivalent_identifiers":["MONDO:0011756","OMIM:606996","UMLS:C1846979","MESH:C537581","medgen:337697"],"information_content":100.0}
{"id":"MONDO:0011757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type A1B","equivalent_identifiers":["MONDO:0011757","DOID:0110974","OMIM:607004","UMLS:C1846949","MESH:C564635","medgen:339652"],"information_content":100.0}
{"id":"MONDO:0011758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hurler syndrome","equivalent_identifiers":["MONDO:0011758","DOID:0111390","OMIM:607014","orphanet:93473","UMLS:C0086795","UMLS:C5848292","MEDDRA:10020470","MEDDRA:10020471","MEDDRA:10028048","NCIT:C61261","SNOMEDCT:254069004","SNOMEDCT:65327002","medgen:39698","ICD10:E76.01","HP:0000943"],"information_content":100.0}
{"id":"MONDO:0011759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hurler-Scheie syndrome","equivalent_identifiers":["MONDO:0011759","DOID:0111389","OMIM:607015","orphanet:93476","UMLS:C0086431","MEDDRA:10056887","MEDDRA:10056916","NCIT:C122782","SNOMEDCT:26745009","medgen:88566","ICD10:E76.02"],"information_content":100.0}
{"id":"MONDO:0011760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scheie syndrome","equivalent_identifiers":["MONDO:0011760","DOID:0060222","OMIM:607016","orphanet:93474","UMLS:C0026708","MEDDRA:10056888","MEDDRA:10056891","MEDDRA:10056919","NCIT:C61265","SNOMEDCT:73123008","medgen:6453","ICD10:E76.0"],"information_content":100.0}
{"id":"MONDO:0011761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 21","equivalent_identifiers":["MONDO:0011761","DOID:0110551","OMIM:607017","UMLS:C1846922","MESH:C564634","medgen:339643"],"information_content":100.0}
{"id":"MONDO:0011762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 22","equivalent_identifiers":["MONDO:0011762","DOID:0110480","OMIM:607039","UMLS:C1846896","MESH:C564633","medgen:339636"],"information_content":100.0}
{"id":"MONDO:0011764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Parkinson disease 8","equivalent_identifiers":["MONDO:0011764","DOID:0060371","OMIM:607060","UMLS:C1846862","NCIT:C198605","medgen:339628"],"information_content":100.0}
{"id":"MONDO:0011765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia type 5","equivalent_identifiers":["MONDO:0011765","DOID:0070299","OMIM:607078","orphanet:93311","UMLS:C1846843","MESH:C535505","SNOMEDCT:715674008","medgen:335542","icd11.foundation:537678813"],"information_content":100.0}
{"id":"MONDO:0011766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","equivalent_identifiers":["MONDO:0011766","DOID:0051055","OMIM:607080","orphanet:168563","UMLS:C2751325","UMLS:C5436061","MESH:C567773","medgen:1727162"],"information_content":100.0}
{"id":"MONDO:0011767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 31","equivalent_identifiers":["MONDO:0011767","DOID:0110490","OMIM:607084","UMLS:C1846839","MESH:C564629","medgen:339621"],"information_content":100.0}
{"id":"MONDO:0011771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal recessive 3","equivalent_identifiers":["MONDO:0011771","DOID:0111211","OMIM:607088","orphanet:139547","UMLS:C1846823","MESH:C564626","SNOMEDCT:770430000","medgen:337659"],"information_content":100.0}
{"id":"MONDO:0011772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B4GALT1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0011772","DOID:0070256","OMIM:607091","orphanet:79332","UMLS:C2931009","MESH:C535753","SNOMEDCT:725587007","medgen:419310"],"information_content":100.0}
{"id":"MONDO:0011773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anauxetic dysplasia","equivalent_identifiers":["MONDO:0011773","DOID:0080942","OMIM.PS:607095","orphanet:93347","UMLS:C1846796","MESH:C538256","SNOMEDCT:764460003","medgen:375972","icd11.foundation:1897630209"],"information_content":90.9}
{"id":"MONDO:0011774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 30","equivalent_identifiers":["MONDO:0011774","DOID:0110489","OMIM:607101","UMLS:C1846784","MESH:C564624","medgen:335521"],"information_content":100.0}
{"id":"MONDO:0011776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CINCA syndrome","equivalent_identifiers":["MONDO:0011776","DOID:0090029","OMIM:607115","orphanet:1451","UMLS:C0409818","MEDDRA:10064568","MEDDRA:10064572","MEDDRA:10064573","MEDDRA:10064574","NCIT:C116380","SNOMEDCT:239826001","medgen:98370"],"information_content":100.0}
{"id":"MONDO:0011778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia, Al-Gazali type","equivalent_identifiers":["MONDO:0011778","OMIM:607131","orphanet:166024","UMLS:C1846722","UMLS:C4304500","MESH:C564621","SNOMEDCT:719688002","medgen:335505","icd11.foundation:1359939784"],"information_content":100.0}
{"id":"MONDO:0011781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 17","equivalent_identifiers":["MONDO:0011781","DOID:0050967","OMIM:607136","orphanet:98759","UMLS:C1833995","UMLS:C1846707","MESH:C563505","MESH:C564616","MESH:C565866","NCIT:C179861","SNOMEDCT:719249005","medgen:337637","icd11.foundation:1173627424"],"information_content":100.0}
{"id":"MONDO:0011782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioid streaks","equivalent_identifiers":["MONDO:0011782","DOID:13401","OMIM:607140","EFO:1000805","UMLS:C0002982","MESH:D000793","MEDDRA:10066191","medgen:1541","HP:0001102"],"information_content":95.4}
{"id":"MONDO:0011783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALG12-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0011783","DOID:0080559","OMIM:607143","orphanet:79324","UMLS:C2931001","MESH:C535745","NCIT:C126873","SNOMEDCT:711155008","medgen:443954"],"information_content":100.0}
{"id":"MONDO:0011784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Moyamoya disease 2","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0011784","OMIM:607151","UMLS:C1846689","MESH:C536992","NCIT:C183312","medgen:339584"],"information_content":100.0}
{"id":"MONDO:0011785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 19","equivalent_identifiers":["MONDO:0011785","DOID:0110772","OMIM:607152","orphanet:100999","UMLS:C1846685","MESH:C536856","SNOMEDCT:763375003","medgen:335494"],"information_content":100.0}
{"id":"MONDO:0011786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Atopic rhinitis","equivalent_identifiers":["MONDO:0011786","DOID:4481","EFO:0005854","UMLS:C0002103","UMLS:C0847614","UMLS:C2607914","MESH:D065631","MEDDRA:10001723","MEDDRA:10003644","MEDDRA:10039085","MEDDRA:10039086","MEDDRA:10039087","MEDDRA:10076646","MEDDRA:10083317","NCIT:C34987","NCIT:C79532","SNOMEDCT:61582004","medgen:382012","icd11.foundation:1711769234","HP:0003193"],"information_content":89.4}
{"id":"MONDO:0011787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2I","equivalent_identifiers":["MONDO:0011787","DOID:0110299","OMIM:607155","orphanet:34515","UMLS:C1846672","MESH:C564612","NCIT:C126739","SNOMEDCT:718180000","medgen:339580"],"information_content":100.0}
{"id":"MONDO:0011788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cloverleaf skull-multiple congenital anomalies syndrome","equivalent_identifiers":["MONDO:0011788","OMIM:607161","orphanet:93267","UMLS:C1846671","MESH:C564611","SNOMEDCT:717771007","medgen:375942"],"information_content":100.0}
{"id":"MONDO:0011790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Amish lethal microcephaly","equivalent_identifiers":["MONDO:0011790","OMIM:607196","orphanet:99742","UMLS:C1846648","MESH:C538247","SNOMEDCT:702437000","medgen:375938"],"information_content":100.0}
{"id":"MONDO:0011792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid dyshormonogenesis 6","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0011792","DOID:0112189","OMIM:607200","UMLS:C1846632","MESH:C564608","medgen:375935"],"information_content":100.0}
{"id":"MONDO:0011795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anonychia-microcephaly syndrome","equivalent_identifiers":["MONDO:0011795","OMIM:607214","orphanet:1094","UMLS:C1846617","UMLS:C2931373","MESH:C536948","MESH:C564606","SNOMEDCT:720494009","medgen:339565"],"information_content":100.0}
{"id":"MONDO:0011797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile-onset ascending hereditary spastic paralysis","equivalent_identifiers":["MONDO:0011797","OMIM:607225","orphanet:293168","UMLS:C2931441","MESH:C537217","SNOMEDCT:703543005","medgen:419413"],"information_content":100.0}
{"id":"MONDO:0011799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 33","equivalent_identifiers":["MONDO:0011799","DOID:0110492","OMIM:607239","UMLS:C1846576","MESH:C564602","medgen:335464"],"information_content":100.0}
{"id":"MONDO:0011801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1","equivalent_identifiers":["MONDO:0011801","DOID:0090115","OMIM:607250","orphanet:94124","UMLS:C4759870","MESH:C537313","SNOMEDCT:765091006","medgen:1683470","ICD10:G60.2"],"information_content":100.0}
{"id":"MONDO:0011803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 7","equivalent_identifiers":["MONDO:0011803","DOID:0110816","OMIM:607259","orphanet:99013","UMLS:C1846564","UMLS:C3711370","MESH:C564599","MESH:C580457","NCIT:C181657","SNOMEDCT:715776003","medgen:339552"],"information_content":100.0}
{"id":"MONDO:0011804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune lymphoproliferative syndrome type 2B","equivalent_identifiers":["MONDO:0011804","DOID:0110116","OMIM:607271","orphanet:275517","UMLS:C1846545","SNOMEDCT:722290008","medgen:339548"],"information_content":100.0}
{"id":"MONDO:0011805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asthma-related traits, susceptibility to, 1","equivalent_identifiers":["MONDO:0011805","OMIM:607277","UMLS:C1846534","medgen:339547"],"information_content":100.0}
{"id":"MONDO:0011806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteofibrous dysplasia","equivalent_identifiers":["MONDO:0011806","OMIM:607278","orphanet:488265","UMLS:C1709353","UMLS:C1836723","UMLS:C4085248","MESH:C563276","MESH:C563787","NCIT:C53970","SNOMEDCT:1234828008","SNOMEDCT:1290733009","medgen:895748"],"information_content":100.0}
{"id":"MONDO:0011810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"horizontal gaze palsy with progressive scoliosis","equivalent_identifiers":["MONDO:0011810","OMIM.PS:607313","orphanet:2744","UMLS:C1846496","MESH:C564593","SNOMEDCT:702381007","medgen:339538","icd11.foundation:226403142"],"information_content":92.8}
{"id":"MONDO:0011811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cerebellar ataxia-saccadic intrusion syndrome","equivalent_identifiers":["MONDO:0011811","DOID:0111611","OMIM:607317","orphanet:95434","UMLS:C1846492","MESH:C537310","medgen:335442"],"information_content":100.0}
{"id":"MONDO:0011812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Duane-radial ray syndrome","equivalent_identifiers":["MONDO:0011812","DOID:0060747","OMIM:607323","orphanet:93293","orphanet:959","UMLS:C0751084","UMLS:C1623209","UMLS:C5848304","SNOMEDCT:699867001","SNOMEDCT:720415006","medgen:301647"],"information_content":92.8}
{"id":"MONDO:0011814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Smith-McCort dysplasia 1","equivalent_identifiers":["MONDO:0011814","DOID:0081270","OMIM:607326","UMLS:C3888088","medgen:854757"],"information_content":100.0}
{"id":"MONDO:0011816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lathosterolosis","equivalent_identifiers":["MONDO:0011816","OMIM:607330","orphanet:46059","UMLS:C1846421","MESH:C537880","SNOMEDCT:719257008","medgen:375885","icd11.foundation:1816858203"],"information_content":100.0}
{"id":"MONDO:0011817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary heart disease, susceptibility to, 1","equivalent_identifiers":["MONDO:0011817","OMIM:607339","UMLS:C1846418","medgen:375884"],"information_content":100.0}
{"id":"MONDO:0011818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated focal cortical dysplasia type II","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0011818","OMIM:607341","orphanet:268994","UMLS:C1846385","UMLS:C1846388","UMLS:C1846389","MESH:C537067","MESH:C564583","NCIT:C201593","SNOMEDCT:1003461002","medgen:339510","HP:0032051"],"information_content":92.8}
{"id":"MONDO:0011819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 19/22","equivalent_identifiers":["MONDO:0011819","DOID:0050970","OMIM:607346","orphanet:98772","UMLS:C1846367","UMLS:C2746067","UMLS:C5235656","MESH:C537198","MESH:C542540","NCIT:C163756","SNOMEDCT:719251009","medgen:339504"],"information_content":100.0}
{"id":"MONDO:0011821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 3","equivalent_identifiers":["MONDO:0011821","DOID:0070117","OMIM:607361","UMLS:C1846357","MESH:C536132","medgen:335402"],"information_content":100.0}
{"id":"MONDO:0011822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartter disease type 3","equivalent_identifiers":["MONDO:0011822","DOID:0110144","OMIM:607364","orphanet:93605","UMLS:C1846343","UMLS:C1846344","MESH:C537653","MESH:C564578","SNOMEDCT:700111000","medgen:335399"],"information_content":100.0}
{"id":"MONDO:0011823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental malformations-deafness-dystonia syndrome","equivalent_identifiers":["MONDO:0011823","OMIM:607371","orphanet:79107","UMLS:C1846331","UMLS:C5848323","MESH:C537704","medgen:1848671"],"information_content":100.0}
{"id":"MONDO:0011824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, 8","equivalent_identifiers":["MONDO:0011824","OMIM:607373","UMLS:C1969710","medgen:409897"],"information_content":100.0}
{"id":"MONDO:0011826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucocorticoid deficiency 2","equivalent_identifiers":["MONDO:0011826","OMIM:607398","UMLS:C4049714","MESH:C564577","NCIT:C123728","medgen:891117"],"information_content":100.0}
{"id":"MONDO:0011827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patent ductus arteriosus","equivalent_identifiers":["MONDO:0011827","DOID:13832","OMIM.PS:607411","UMLS:C0013274","MESH:D004374","MEDDRA:10013807","MEDDRA:10034130","NCIT:C84492","SNOMEDCT:83330001","medgen:4415","ICD10:Q25.0","ICD9:747.0","HP:0001643"],"information_content":89.4}
{"id":"MONDO:0011828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 2","equivalent_identifiers":["MONDO:0011828","DOID:0081178","OMIM:607417","UMLS:C1843942","MESH:C564404","medgen:334541"],"information_content":100.0}
{"id":"MONDO:0011829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coenzyme Q10 deficiency, primary, 1","equivalent_identifiers":["MONDO:0011829","DOID:0070238","OMIM:607426","UMLS:C3551954","medgen:764868"],"information_content":100.0}
{"id":"MONDO:0011830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly 1","equivalent_identifiers":["MONDO:0011830","DOID:0112237","OMIM:607432","orphanet:95232","UMLS:C4749301","SNOMEDCT:770560008","medgen:1657090"],"information_content":100.0}
{"id":"MONDO:0011831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 8","equivalent_identifiers":["MONDO:0011831","DOID:0110076","OMIM:607450","UMLS:C1843896","MESH:C564400","medgen:336069"],"information_content":100.0}
{"id":"MONDO:0011832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 44","equivalent_identifiers":["MONDO:0011832","DOID:0110569","OMIM:607453","UMLS:C1843895","MESH:C564399","medgen:334525"],"information_content":100.0}
{"id":"MONDO:0011833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 21","equivalent_identifiers":["MONDO:0011833","DOID:0050972","OMIM:607454","orphanet:98773","UMLS:C1843891","MESH:C537200","SNOMEDCT:718774001","medgen:375311","icd11.foundation:1426889593"],"information_content":100.0}
{"id":"MONDO:0011834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 18","equivalent_identifiers":["MONDO:0011834","DOID:0050969","OMIM:607458","orphanet:98771","UMLS:C1843884","MESH:C537197","SNOMEDCT:719250005","medgen:336066","icd11.foundation:1564628854"],"information_content":100.0}
{"id":"MONDO:0011835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sensory ataxic neuropathy, dysarthria, and ophthalmoparesis","equivalent_identifiers":["MONDO:0011835","DOID:0111276","OMIM:607459","orphanet:402082","orphanet:70595","UMLS:C1843851","UMLS:C4225440","MESH:C537583","SNOMEDCT:717266001","medgen:375302"],"information_content":95.4}
{"id":"MONDO:0011836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid Hurthle cell carcinoma","equivalent_identifiers":["MONDO:0011836","DOID:8161","OMIM:607464","EFO:1000592","UMLS:C0749424","MESH:C536913","MEDDRA:10065861","MEDDRA:10080261","NCIT:C4946","SNOMEDCT:423158009","medgen:196672"],"information_content":88.2}
{"id":"MONDO:0011837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin K-dependent clotting factors, combined deficiency of, type 2","equivalent_identifiers":["MONDO:0011837","DOID:0112174","OMIM:607473","UMLS:C1843832","MESH:C564393","medgen:334505"],"information_content":100.0}
{"id":"MONDO:0011838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bothnia retinal dystrophy","equivalent_identifiers":["MONDO:0011838","DOID:0050683","OMIM:607475","orphanet:85128","UMLS:C1843816","MESH:C564392","SNOMEDCT:715647007","medgen:334499","icd11.foundation:2110390212"],"information_content":100.0}
{"id":"MONDO:0011839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Newfoundland cone-rod dystrophy","equivalent_identifiers":["MONDO:0011839","DOID:0111015","OMIM:607476","UMLS:C1843815","MESH:C564391","medgen:334840"],"information_content":100.0}
{"id":"MONDO:0011840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1M","equivalent_identifiers":["MONDO:0011840","DOID:0110449","OMIM:607482","UMLS:C1843808","MESH:C564390","medgen:334498"],"information_content":100.0}
{"id":"MONDO:0011841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biotin-responsive basal ganglia disease","equivalent_identifiers":["MONDO:0011841","DOID:0050659","OMIM:607483","orphanet:199348","orphanet:65284","UMLS:C1843807","UMLS:C5848322","MESH:C537658","SNOMEDCT:703522009","SNOMEDCT:723557004","medgen:375289","icd11.foundation:1776831202"],"information_content":100.0}
{"id":"MONDO:0011842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GRN-related frontotemporal lobar degeneration with Tdp43 inclusions","equivalent_identifiers":["MONDO:0011842","DOID:0060672","OMIM:607485","UMLS:C1843792","medgen:375285","ICD10:G31.0"],"information_content":90.9}
{"id":"MONDO:0011843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 25","equivalent_identifiers":["MONDO:0011843","DOID:0110328","OMIM:607487","UMLS:C1843791","UMLS:C4225408","MESH:C564388","medgen:895360"],"information_content":100.0}
{"id":"MONDO:0011844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonic dystonia 15","equivalent_identifiers":["MONDO:0011844","DOID:0090035","OMIM:607488","UMLS:C1843786","MESH:C538002","medgen:334492"],"information_content":100.0}
{"id":"MONDO:0011845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine with or without aura, susceptibility to, 3","equivalent_identifiers":["MONDO:0011845","OMIM:607498","UMLS:C1843782","medgen:375283"],"information_content":100.0}
{"id":"MONDO:0011846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bulimia nervosa, susceptibility to, 1","inheritance":"Multifactorial inheritance","equivalent_identifiers":["MONDO:0011846","OMIM:607499","UMLS:C1843776","UMLS:C4551963","medgen:334832"],"information_content":100.0}
{"id":"MONDO:0011847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine without aura, susceptibility to, 4","equivalent_identifiers":["MONDO:0011847","OMIM:607501","UMLS:C1843773","medgen:336040"],"information_content":100.0}
{"id":"MONDO:0011850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine with or without aura, susceptibility to, 5","equivalent_identifiers":["MONDO:0011850","OMIM:607508","UMLS:C1843771","medgen:334831"],"information_content":100.0}
{"id":"MONDO:0011851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine with or without aura, susceptibility to, 6","equivalent_identifiers":["MONDO:0011851","OMIM:607516","UMLS:C1843765","MESH:C564385","medgen:334829"],"information_content":100.0}
{"id":"MONDO:0011852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonsyndromic congenital nail disorder 8","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0011852","DOID:0080086","OMIM:607523","UMLS:C1843761","MESH:C564384","medgen:375277"],"information_content":100.0}
{"id":"MONDO:0011853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Camptosynpolydactyly, complex","equivalent_identifiers":["MONDO:0011853","OMIM:607539","UMLS:C1843758","MESH:C564383","medgen:375276"],"information_content":100.0}
{"id":"MONDO:0011855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granular corneal dystrophy type II","equivalent_identifiers":["MONDO:0011855","DOID:0060444","OMIM:607541","orphanet:98963","UMLS:C1275685","MESH:C535474","MEDDRA:10086105","SNOMEDCT:397568004","medgen:220900"],"information_content":100.0}
{"id":"MONDO:0011857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 3","equivalent_identifiers":["MONDO:0011857","OMIM:607554","UMLS:C1837014","MESH:C563817","medgen:373232"],"information_content":100.0}
{"id":"MONDO:0011858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia, ataxia, and intellectual disability","equivalent_identifiers":["MONDO:0011858","OMIM:607565","UMLS:C1843661","MESH:C564378","medgen:336010"],"information_content":100.0}
{"id":"MONDO:0011861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Breath Holding","equivalent_identifiers":["MONDO:0011861","OMIM:607578","UMLS:C0476287","MEDDRA:10006324","NCIT:C121558","SNOMEDCT:713013008","medgen:105400","HP:6000950"],"information_content":87.2}
{"id":"MONDO:0011862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 24","equivalent_identifiers":["MONDO:0011862","DOID:0110775","OMIM:607584","orphanet:101004","UMLS:C1843569","MESH:C564375","SNOMEDCT:785304005","medgen:334784"],"information_content":100.0}
{"id":"MONDO:0011866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 1A","equivalent_identifiers":["MONDO:0011866","DOID:0060265","OMIM:607596","UMLS:C1843504","medgen:335969"],"information_content":100.0}
{"id":"MONDO:0011868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal congenital contracture syndrome 2","equivalent_identifiers":["MONDO:0011868","DOID:0060560","OMIM:607598","orphanet:137776","UMLS:C1843478","MESH:C564369","SNOMEDCT:715419004","medgen:334413"],"information_content":100.0}
{"id":"MONDO:0011870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"annular epidermolytic ichthyosis","equivalent_identifiers":["MONDO:0011870","OMIM.PS:607602","orphanet:281139","UMLS:C1843463","MESH:C564367","SNOMEDCT:718631006","medgen:334410","icd11.foundation:280058464"],"information_content":92.8}
{"id":"MONDO:0011871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease type B","equivalent_identifiers":["MONDO:0011871","DOID:0070112","OMIM:607616","orphanet:77293","UMLS:C0268243","UMLS:C1843418","UMLS:C2675644","MESH:C564366","MESH:C567267","MESH:D052537","NCIT:C126866","SNOMEDCT:39390005","medgen:78651","icd11.foundation:327269975"],"information_content":100.0}
{"id":"MONDO:0011872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Griscelli syndrome type 2","equivalent_identifiers":["MONDO:0011872","DOID:0060833","OMIM:607624","orphanet:79477","UMLS:C1868679","MESH:C537302","NCIT:C111814","medgen:357030","icd11.foundation:1836541365"],"information_content":100.0}
{"id":"MONDO:0011873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease, type C2","equivalent_identifiers":["MONDO:0011873","DOID:0070114","OMIM:607625","UMLS:C1843366","MESH:C536119","NCIT:C126865","medgen:335942"],"information_content":100.0}
{"id":"MONDO:0011874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal ichthyosis-sclerosing cholangitis syndrome","equivalent_identifiers":["MONDO:0011874","OMIM:607626","orphanet:59303","UMLS:C1843355","MESH:C564365","SNOMEDCT:724278007","medgen:334382"],"information_content":100.0}
{"id":"MONDO:0011875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, idiopathic generalized, susceptibility to, 11","equivalent_identifiers":["MONDO:0011875","OMIM:607628","UMLS:C2750893","UMLS:C2750894","UMLS:C2750895","medgen:416407"],"information_content":100.0}
{"id":"MONDO:0011877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant osteopetrosis 1","equivalent_identifiers":["MONDO:0011877","DOID:0110937","OMIM:607634","orphanet:2783","UMLS:C1843330","MESH:C536056","SNOMEDCT:1264041000","medgen:335932"],"information_content":100.0}
{"id":"MONDO:0011879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 7B","equivalent_identifiers":["MONDO:0011879","DOID:0111202","OMIM:607641","UMLS:C1843315","MESH:C564362","medgen:375157"],"information_content":100.0}
{"id":"MONDO:0011880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"candidiasis, familial, 3","equivalent_identifiers":["MONDO:0011880","OMIM:607644","UMLS:C1843306","MESH:C564361","medgen:335927"],"information_content":100.0}
{"id":"MONDO:0011881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis palmoplantaris striata 3","equivalent_identifiers":["MONDO:0011881","DOID:0081110","OMIM:607654","UMLS:C2931123","MESH:C536163","medgen:418996"],"information_content":100.0}
{"id":"MONDO:0011882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin fragility-woolly hair-palmoplantar keratoderma syndrome","equivalent_identifiers":["MONDO:0011882","orphanet:293165","UMLS:C4755263","MESH:C564359","SNOMEDCT:778010006","medgen:1659950"],"information_content":100.0}
{"id":"MONDO:0011885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tubulointerstitial nephritis and uveitis syndrome","equivalent_identifiers":["MONDO:0011885","OMIM:607665","orphanet:91500","UMLS:C1843273","MESH:C536922","MEDDRA:10069034","MEDDRA:10069039","NCIT:C123021","SNOMEDCT:418839003","medgen:334715"],"information_content":100.0}
{"id":"MONDO:0011886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsion dystonia 13","equivalent_identifiers":["MONDO:0011886","DOID:0090037","OMIM:607671","orphanet:98807","UMLS:C1843264","MESH:C564354","SNOMEDCT:719278006","medgen:335918"],"information_content":100.0}
{"id":"MONDO:0011887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract, congenital, with mental impairment and dentate gyrus atrophy","equivalent_identifiers":["MONDO:0011887","OMIM:607674","UMLS:C1843257","MESH:C564353","medgen:334365"],"information_content":100.0}
{"id":"MONDO:0011888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 67","equivalent_identifiers":["MONDO:0011888","OMIM:607676","orphanet:70592","UMLS:C1843256","UMLS:C1970686","MESH:C564352","medgen:375137"],"information_content":100.0}
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{"id":"MONDO:0011890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 1D","equivalent_identifiers":["MONDO:0011890","DOID:0110150","OMIM:607678","orphanet:101084","UMLS:C1843247","MESH:C537985","SNOMEDCT:719979008","medgen:334709","icd11.foundation:2062905967"],"information_content":100.0}
{"id":"MONDO:0011891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"febrile seizures, familial, 8","equivalent_identifiers":["MONDO:0011891","DOID:0111298","OMIM:607681","UMLS:C1843244","UMLS:C1858674","UMLS:C1969810","MESH:C565811","MESH:C566975","medgen:370755"],"information_content":100.0}
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{"id":"MONDO:0011894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2E","equivalent_identifiers":["MONDO:0011894","DOID:0110165","OMIM:607684","orphanet:99939","UMLS:C1843225","MESH:C537994","NCIT:C134953","SNOMEDCT:717012004","medgen:375127","icd11.foundation:1476045360"],"information_content":100.0}
{"id":"MONDO:0011895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic hypereosinophilic syndrome","equivalent_identifiers":["MONDO:0011895","OMIM:607685","orphanet:3260","UMLS:C0206141","SNOMEDCT:414450004","SNOMEDCT:423294001","medgen:61525","icd11.foundation:703101846"],"information_content":95.4}
{"id":"MONDO:0011896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 11, autosomal dominant, susceptibility to","equivalent_identifiers":["MONDO:0011896","OMIM:607688","UMLS:C1843211","UMLS:C4083045","MESH:C564345","medgen:896658"],"information_content":100.0}
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{"id":"MONDO:0011898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive","equivalent_identifiers":["MONDO:0011898","DOID:0051028","OMIM:607706","UMLS:C1843183","MESH:C539595","medgen:375113"],"information_content":100.0}
{"id":"MONDO:0011899","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome-like disorder with loose anagen hair","equivalent_identifiers":["MONDO:0011899","DOID:0080691","OMIM.PS:607721","orphanet:2701","UMLS:C1843181","UMLS:C3501846","MESH:C564342","NCIT:C178129","SNOMEDCT:723444009","medgen:334697"],"information_content":92.8}
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{"id":"MONDO:0011904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures, benign familial infantile, 3","equivalent_identifiers":["MONDO:0011904","DOID:0081116","OMIM:607745","orphanet:140927","UMLS:C1843140","medgen:375105"],"information_content":100.0}
{"id":"MONDO:0011906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bile acid synthesis defect 1","equivalent_identifiers":["MONDO:0011906","DOID:0111071","OMIM:607765","orphanet:79301","UMLS:C1843116","MESH:C535442","SNOMEDCT:238033007","medgen:335883"],"information_content":100.0}
{"id":"MONDO:0011907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrocapitofemoral dysplasia","equivalent_identifiers":["MONDO:0011907","DOID:0050604","OMIM:607778","orphanet:63446","UMLS:C1843096","MESH:C564334","SNOMEDCT:720416007","medgen:334681","icd11.foundation:687396416"],"information_content":100.0}
{"id":"MONDO:0011908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile myelomonocytic leukemia","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0011908","DOID:0050458","OMIM:607785","orphanet:86834","EFO:1000309","UMLS:C0349639","MESH:D054429","MEDDRA:10023248","MEDDRA:10023249","MEDDRA:10054439","MEDDRA:10060498","NCIT:C9233","SNOMEDCT:128832006","SNOMEDCT:277587001","SNOMEDCT:445227008","medgen:138109","icd11.foundation:1786015803","ICD10:C93.3","HP:0012209"],"information_content":82.6}
{"id":"MONDO:0011909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease dominant intermediate D","equivalent_identifiers":["MONDO:0011909","DOID:0110200","OMIM:607791","orphanet:100046","UMLS:C1843075","MESH:C564333","SNOMEDCT:765747004","medgen:334318"],"information_content":90.9}
{"id":"MONDO:0011911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniolenticulosutural dysplasia","equivalent_identifiers":["MONDO:0011911","DOID:0070307","OMIM:607812","orphanet:50814","UMLS:C1843042","MESH:C564332","SNOMEDCT:725100001","medgen:334671","icd11.foundation:970423180"],"information_content":100.0}
{"id":"MONDO:0011912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 37","equivalent_identifiers":["MONDO:0011912","DOID:0110495","OMIM:607821","UMLS:C1843028","MESH:C564331","medgen:375076"],"information_content":100.0}
{"id":"MONDO:0011913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 3","equivalent_identifiers":["MONDO:0011913","DOID:0110042","OMIM:607822","UMLS:C1843013","UMLS:C1843014","UMLS:C1843015","MESH:C536598","MESH:C564329","MESH:C564330","NCIT:C123412","medgen:334304"],"information_content":100.0}
{"id":"MONDO:0011914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis-lymphedema-telangiectasia syndrome","equivalent_identifiers":["MONDO:0011914","DOID:0111361","OMIM:607823","UMLS:C1843004","MESH:C564327","medgen:375070"],"information_content":100.0}
{"id":"MONDO:0011915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitral valve prolapse, myxomatous 2","equivalent_identifiers":["MONDO:0011915","OMIM:607829","UMLS:C1843003","MESH:C564326","medgen:335856"],"information_content":100.0}
{"id":"MONDO:0011916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2K","equivalent_identifiers":["MONDO:0011916","DOID:0110167","OMIM:607831","orphanet:101097","UMLS:C1842983","MESH:C535418","SNOMEDCT:725047007","medgen:375064"],"information_content":100.0}
{"id":"MONDO:0011917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal segmental glomerulosclerosis 3, susceptibility to","equivalent_identifiers":["MONDO:0011917","DOID:0112245","OMIM:607832","UMLS:C1842982","medgen:335850"],"information_content":100.0}
{"id":"MONDO:0011918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anxiety","equivalent_identifiers":["MONDO:0011918","OMIM:607834","EFO:0005230","UMLS:C0003467","UMLS:C4020884","MESH:D001007","MEDDRA:10002855","MEDDRA:10002865","MEDDRA:10016323","MEDDRA:10037935","NCIT:C26696","SNOMEDCT:48694002","medgen:1613","icd11.foundation:2027043655","HP:0000739"],"information_content":81.7}
{"id":"MONDO:0011919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune disease, susceptibility to, 1","equivalent_identifiers":["MONDO:0011919","OMIM:607836","UMLS:C1842979","medgen:335848"],"information_content":100.0}
{"id":"MONDO:0011920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 48","equivalent_identifiers":["MONDO:0011920","DOID:0110571","OMIM:607841","UMLS:C1842939","MESH:C564322","medgen:375052"],"information_content":100.0}
{"id":"MONDO:0011921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aural atresia, congenital","equivalent_identifiers":["MONDO:0011921","OMIM:607842","UMLS:C1842937","MESH:C564321","medgen:375051"],"information_content":100.0}
{"id":"MONDO:0011922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonimmune chronic idiopathic neutropenia of adults","equivalent_identifiers":["MONDO:0011922","OMIM:607847","orphanet:2688","UMLS:C1842930","MESH:C564320","medgen:375050"],"information_content":100.0}
{"id":"MONDO:0011923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoarthritis susceptibility 3","equivalent_identifiers":["MONDO:0011923","OMIM:607850","UMLS:C2675609","medgen:382650"],"information_content":100.0}
{"id":"MONDO:0011925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital merosin-deficient muscular dystrophy 1A","equivalent_identifiers":["MONDO:0011925","DOID:0110636","OMIM:607855","orphanet:258","UMLS:C1263858","UMLS:C1842898","MESH:C537384","MESH:C564317","NCIT:C118783","SNOMEDCT:111503008","SNOMEDCT:787037000","medgen:224728"],"information_content":100.0}
{"id":"MONDO:0011927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tufted angioma","equivalent_identifiers":["MONDO:0011927","OMIM:607859","orphanet:1063","UMLS:C0346073","MESH:C536924","NCIT:C4487","SNOMEDCT:254786000","SNOMEDCT:705155008","medgen:83402","icd11.foundation:1994573217","HP:0012329"],"information_content":100.0}
{"id":"MONDO:0011928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dipygus","equivalent_identifiers":["MONDO:0011928","OMIM:607864","orphanet:1756","UMLS:C0266688","UMLS:C1842884","MESH:C564315","SNOMEDCT:71464000","medgen:335822","icd11.foundation:1949559803"],"information_content":100.0}
{"id":"MONDO:0011929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 1p36 deletion syndrome","equivalent_identifiers":["MONDO:0011929","DOID:0060410","OMIM:607872","orphanet:1606","UMLS:C1842870","MESH:C535362","MEDDRA:10082398","NCIT:C74983","SNOMEDCT:699306003","medgen:334629"],"information_content":100.0}
{"id":"MONDO:0011930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial adult myoclonic, 2","equivalent_identifiers":["MONDO:0011930","DOID:0111692","OMIM:607876","UMLS:C1842852","MESH:C564313","medgen:375031"],"information_content":100.0}
{"id":"MONDO:0011932","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 6","equivalent_identifiers":["MONDO:0011932","DOID:0110703","OMIM:607903","UMLS:C1842839","MESH:C564312","medgen:335812"],"information_content":100.0}
{"id":"MONDO:0011933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALG2-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0011933","DOID:0080561","OMIM:607906","orphanet:79326","UMLS:C1842836","MESH:C000623088","SNOMEDCT:897592003","medgen:334618"],"information_content":95.4}
{"id":"MONDO:0011934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatofibrosarcoma protuberans","equivalent_identifiers":["MONDO:0011934","DOID:3507","OMIM:607907","orphanet:31112","UMLS:C0206647","UMLS:C0392784","UMLS:C3693482","MESH:D018223","MEDDRA:10057043","MEDDRA:10057070","NCIT:C4683","NCIT:C4700","SNOMEDCT:128742004","SNOMEDCT:238863004","SNOMEDCT:276799004","SNOMEDCT:76594008","medgen:811326","icd11.foundation:1579898301"],"information_content":82.6}
{"id":"MONDO:0011935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 30","equivalent_identifiers":["MONDO:0011935","DOID:0110406","OMIM:607921","UMLS:C1842816","MESH:C564310","medgen:334614"],"information_content":100.0}
{"id":"MONDO:0011936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia with brain and digit anomalies","equivalent_identifiers":["MONDO:0011936","DOID:0111805","OMIM:607932","orphanet:139471","UMLS:C1864689","MESH:C566440","SNOMEDCT:721878003","medgen:355268"],"information_content":100.0}
{"id":"MONDO:0011937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peeling skin syndrome 4","equivalent_identifiers":["MONDO:0011937","DOID:0070523","OMIM:607936","UMLS:C1842797","UMLS:C4225407","MESH:C564309","medgen:895692"],"information_content":100.0}
{"id":"MONDO:0011938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 2","equivalent_identifiers":["MONDO:0011938","DOID:0110107","OMIM:607941","UMLS:C1842778","MESH:C538263","medgen:334249"],"information_content":100.0}
{"id":"MONDO:0011939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spondyloenchondrodysplasia with immune dysregulation","equivalent_identifiers":["MONDO:0011939","OMIM:607944","orphanet:1855","UMLS:C1842763","MESH:C564307","SNOMEDCT:703523004","medgen:375009"],"information_content":100.0}
{"id":"MONDO:0011945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gaucher disease perinatal lethal","equivalent_identifiers":["MONDO:0011945","DOID:0110960","OMIM:608013","orphanet:85212","UMLS:C1842704","MESH:C564306","SNOMEDCT:870313002","medgen:374996"],"information_content":100.0}
{"id":"MONDO:0011946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diaphanospondylodysostosis","equivalent_identifiers":["MONDO:0011946","OMIM:608022","orphanet:66637","UMLS:C1842691","MESH:C564305","SNOMEDCT:721094006","medgen:374993","icd11.foundation:508093071"],"information_content":100.0}
{"id":"MONDO:0011948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 3","equivalent_identifiers":["MONDO:0011948","DOID:0060272","OMIM:608027","orphanet:97249","UMLS:C1842687","MESH:C548072","SNOMEDCT:718609003","medgen:334225","icd11.foundation:378477807"],"information_content":100.0}
{"id":"MONDO:0011950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile-onset autosomal recessive nonprogressive cerebellar ataxia","equivalent_identifiers":["MONDO:0011950","DOID:0111617","OMIM:608029","orphanet:284332","UMLS:C1842676","MESH:C537312","SNOMEDCT:785300001","medgen:334220"],"information_content":100.0}
{"id":"MONDO:0011951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 6","equivalent_identifiers":["MONDO:0011951","DOID:0060198","OMIM:608030","UMLS:C2750729","UMLS:C2931786","MESH:C538251","MESH:C567699","NCIT:C168750","SNOMEDCT:1204334005","medgen:419901"],"information_content":100.0}
{"id":"MONDO:0011953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial acute necrotizing encephalopathy","equivalent_identifiers":["MONDO:0011953","OMIM:608033","orphanet:88619","UMLS:C2675556","UMLS:C4509836","SNOMEDCT:723359002","medgen:382634"],"information_content":100.0}
{"id":"MONDO:0011956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, 3","equivalent_identifiers":["MONDO:0011956","OMIM:608049","UMLS:C1842632","medgen:334211"],"information_content":100.0}
{"id":"MONDO:0011957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal macular dystrophy type 2","equivalent_identifiers":["MONDO:0011957","DOID:0070517","OMIM:608051","orphanet:319640","UMLS:C4749334","MESH:C562746","SNOMEDCT:770594005","medgen:1666864"],"information_content":100.0}
{"id":"MONDO:0011959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sweet syndrome","equivalent_identifiers":["MONDO:0011959","DOID:0080746","OMIM:608068","orphanet:3243","UMLS:C0085077","MESH:D016463","MEDDRA:10000748","MEDDRA:10042673","NCIT:C85177","SNOMEDCT:84625002","medgen:43097","icd11.foundation:195212152"],"information_content":100.0}
{"id":"MONDO:0011961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory and autonomic neuropathy type 1B","equivalent_identifiers":["MONDO:0011961","DOID:0070148","OMIM:608088","orphanet:139564","UMLS:C1842586","MESH:C564296","SNOMEDCT:717825008","medgen:330880"],"information_content":100.0}
{"id":"MONDO:0011962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrial cancer","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0011962","DOID:1380","OMIM:608089","EFO:0004230","UMLS:C0007103","MEDDRA:10014742","MEDDRA:10014760","NCIT:C27815","SNOMEDCT:188192002","medgen:2840","ICD10:C54.1","KEGG.DISEASE:05213"],"information_content":62.0}
{"id":"MONDO:0011963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 2","equivalent_identifiers":["MONDO:0011963","DOID:0110988","OMIM:608091","UMLS:C1842577","MESH:C536294","medgen:334114"],"information_content":100.0}
{"id":"MONDO:0011964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DPAGT1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0011964","DOID:0080562","OMIM:608093","orphanet:86309","UMLS:C2931004","MESH:C535748","NCIT:C126874","SNOMEDCT:725079003","medgen:419694"],"information_content":100.0}
{"id":"MONDO:0011965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial temporal lobe epilepsy 2","equivalent_identifiers":["MONDO:0011965","DOID:0060755","OMIM:608096","UMLS:C1842564","UMLS:C4759869","MESH:C536956","medgen:1683026"],"information_content":100.0}
{"id":"MONDO:0011966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periventricular heterotopia with microcephaly, autosomal recessive","equivalent_identifiers":["MONDO:0011966","OMIM:608097","UMLS:C1842563","MESH:C564292","medgen:334110"],"information_content":100.0}
{"id":"MONDO:0011968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2D","equivalent_identifiers":["MONDO:0011968","DOID:0110278","OMIM:608099","orphanet:62","UMLS:C2936332","NCIT:C142081","SNOMEDCT:715340002","medgen:424706"],"information_content":100.0}
{"id":"MONDO:0011969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALG8-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0011969","DOID:0080560","OMIM:608104","orphanet:79325","UMLS:C2931002","MESH:C535746","SNOMEDCT:720977000","medgen:419692"],"information_content":100.0}
{"id":"MONDO:0011970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome","equivalent_identifiers":["MONDO:0011970","DOID:0111645","OMIM:608105","orphanet:163727","UMLS:C1842531","MESH:C535499","SNOMEDCT:1231737000","medgen:334104","icd11.foundation:1311096281"],"information_content":100.0}
{"id":"MONDO:0011971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgM syndrome type 5","equivalent_identifiers":["MONDO:0011971","DOID:0060759","OMIM:608106","orphanet:101092","UMLS:C1720958","SNOMEDCT:1351569004","medgen:328420"],"information_content":100.0}
{"id":"MONDO:0011972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian hyperstimulation syndrome","equivalent_identifiers":["MONDO:0011972","DOID:5425","OMIM:608115","orphanet:64739","UMLS:C0085083","UMLS:C3494162","MESH:D016471","MEDDRA:10033266","SNOMEDCT:129635004","medgen:38966","icd11.foundation:1216664013"],"information_content":100.0}
{"id":"MONDO:0011973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"zinc deficiency, transient neonatal","equivalent_identifiers":["MONDO:0011973","OMIM:608118","UMLS:C1842485","UMLS:C1842486","MESH:C564286","medgen:330858"],"information_content":100.0}
{"id":"MONDO:0011974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 7","equivalent_identifiers":["MONDO:0011974","DOID:0110383","OMIM:608133","UMLS:C1842475","UMLS:C2675552","UMLS:C4013102","MESH:C564284","MESH:C567263","medgen:334168"],"information_content":100.0}
{"id":"MONDO:0011975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paternal uniparental disomy of chromosome 14","equivalent_identifiers":["MONDO:0011975","OMIM:608149","orphanet:96334","UMLS:C1842466","UMLS:C5680251","MESH:C536471","SNOMEDCT:1003872003","medgen:1843450","icd11.foundation:1835121942"],"information_content":100.0}
{"id":"MONDO:0011976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipodystrophy-intellectual disability-deafness syndrome","equivalent_identifiers":["MONDO:0011976","OMIM:608154","orphanet:50811","UMLS:C1842465","UMLS:C4302920","MESH:C564283","SNOMEDCT:721973006","medgen:334166"],"information_content":100.0}
{"id":"MONDO:0011977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"8q22.1 microdeletion syndrome","equivalent_identifiers":["MONDO:0011977","OMIM:608156","orphanet:178303","UMLS:C1842464","MESH:C536110","SNOMEDCT:719664004","medgen:334165"],"information_content":100.0}
{"id":"MONDO:0011979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset foveomacular vitelliform dystrophy","equivalent_identifiers":["MONDO:0011979","orphanet:99000","UMLS:C1842914","MEDDRA:10075544","SNOMEDCT:232049001","medgen:334280","icd11.foundation:558806410"],"information_content":89.4}
{"id":"MONDO:0011982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune thyroid disease, susceptibility to, 3","equivalent_identifiers":["MONDO:0011982","OMIM:608175","UMLS:C1842444","medgen:374932"],"information_content":100.0}
{"id":"MONDO:0011984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synpolydactyly type 2","equivalent_identifiers":["MONDO:0011984","OMIM:608180","orphanet:295197","UMLS:C1842422","MESH:C564278","medgen:331290","icd11.foundation:1370014661"],"information_content":100.0}
{"id":"MONDO:0011985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgM syndrome type 4","equivalent_identifiers":["MONDO:0011985","DOID:0060760","OMIM:608184","orphanet:101091","UMLS:C1842413","MESH:C564277","NCIT:C564277","medgen:330847"],"information_content":100.0}
{"id":"MONDO:0011986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tropical pancreatitis","equivalent_identifiers":["MONDO:0011986","OMIM:608189","orphanet:103918","UMLS:C1842402","MESH:C564276","SNOMEDCT:724540009","medgen:334069","icd11.foundation:1645607956"],"information_content":100.0}
{"id":"MONDO:0011987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 13","equivalent_identifiers":["MONDO:0011987","DOID:0111016","OMIM:608194","UMLS:C2750720","MESH:C567698","medgen:413025"],"information_content":100.0}
{"id":"MONDO:0011988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutrophil immunodeficiency syndrome","equivalent_identifiers":["MONDO:0011988","DOID:0112064","OMIM:608203","orphanet:183707","UMLS:C1842398","MESH:C564275","SNOMEDCT:723443003","medgen:374920","icd11.foundation:1459690929"],"information_content":100.0}
{"id":"MONDO:0011989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leishmaniasis","equivalent_identifiers":["MONDO:0011989","DOID:9065","orphanet:507","EFO:0005044","UMLS:C0023281","MESH:D007896","MEDDRA:10024198","MEDDRA:10024199","MEDDRA:10024201","MEDDRA:10057168","NCIT:C34767","SNOMEDCT:80612004","medgen:9714","icd11.foundation:1082373067","ICD10:B55","ICD9:085"],"information_content":86.3}
{"id":"MONDO:0011990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures, benign familial neonatal, 3","equivalent_identifiers":["MONDO:0011990","OMIM:608217","UMLS:C1842382","MESH:C564274","medgen:334063"],"information_content":100.0}
{"id":"MONDO:0011991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 38","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0011991","DOID:0110496","OMIM:608219","UMLS:C1842381","MESH:C564273","medgen:330838"],"information_content":100.0}
{"id":"MONDO:0011992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 25","equivalent_identifiers":["MONDO:0011992","DOID:0110776","OMIM:608220","orphanet:101005","UMLS:C2936860","MESH:C536861","SNOMEDCT:732933009","medgen:424835"],"information_content":100.0}
{"id":"MONDO:0011994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 41","equivalent_identifiers":["MONDO:0011994","DOID:0110567","OMIM:608224","UMLS:C1842371","MESH:C564272","NCIT:C175700","medgen:330834"],"information_content":100.0}
{"id":"MONDO:0011996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic myelogenous leukemia, BCR-ABL1 positive","equivalent_identifiers":["MONDO:0011996","DOID:0081088","DOID:8552","OMIM:608232","orphanet:521","EFO:0000339","UMLS:C0023473","UMLS:C0279543","UMLS:C1292771","UMLS:C5193152","MESH:D015464","MEDDRA:10008904","MEDDRA:10008905","MEDDRA:10009011","MEDDRA:10009012","MEDDRA:10009013","MEDDRA:10009015","MEDDRA:10009700","MEDDRA:10024296","MEDDRA:10024347","MEDDRA:10028553","MEDDRA:10028558","MEDDRA:10058245","MEDDRA:10058246","MEDDRA:10058247","NCIT:C3174","NCIT:C9128","SNOMEDCT:1162588009","SNOMEDCT:63364005","SNOMEDCT:92818009","medgen:75993","ICD9:205.1","KEGG.DISEASE:05220","HP:0005506"],"information_content":72.7}
{"id":"MONDO:0011997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 2","equivalent_identifiers":["MONDO:0011997","DOID:0060540","OMIM:608233","orphanet:183678","orphanet:664500","UMLS:C1842362","MESH:C537709","NCIT:C150368","medgen:374912"],"information_content":100.0}
{"id":"MONDO:0011998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant slowed nerve conduction velocity","equivalent_identifiers":["MONDO:0011998","OMIM:608236","orphanet:140481","UMLS:C1842357","MESH:C564269","SNOMEDCT:764854006","medgen:330829"],"information_content":100.0}
{"id":"MONDO:0011999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otosclerosis 3","equivalent_identifiers":["MONDO:0011999","DOID:0060922","OMIM:608244","UMLS:C1842353","MESH:C564268","medgen:334054"],"information_content":100.0}
{"id":"MONDO:0012001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibulofacial dysostosis with ptosis, autosomal dominant","equivalent_identifiers":["MONDO:0012001","OMIM:608257","UMLS:C1842349","MESH:C564267","medgen:331276"],"information_content":100.0}
{"id":"MONDO:0012002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 40","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012002","DOID:0110499","OMIM:608264","UMLS:C1842345","MESH:C564266","medgen:334053"],"information_content":100.0}
{"id":"MONDO:0012003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 39","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012003","DOID:0110497","OMIM:608265","UMLS:C1842342","MESH:C564265","NCIT:C129874","medgen:374909"],"information_content":100.0}
{"id":"MONDO:0012004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parathyroid gland carcinoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0012004","DOID:1540","OMIM:608266","orphanet:143","EFO:1000456","UMLS:C0687150","NCIT:C4906","SNOMEDCT:255037004","medgen:146361","ICD10:C75.0","ICD9:194.1","HP:0006780"],"information_content":85.5}
{"id":"MONDO:0012008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lelis syndrome","equivalent_identifiers":["MONDO:0012008","OMIM:608290","orphanet:140936","UMLS:C1842307","MESH:C564261","SNOMEDCT:719429003","medgen:334042"],"information_content":100.0}
{"id":"MONDO:0012011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary artery disease, autosomal dominant, 1","equivalent_identifiers":["MONDO:0012011","OMIM:608320","UMLS:C1842247","MESH:C564258","medgen:330802"],"information_content":100.0}
{"id":"MONDO:0012012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease dominant intermediate C","equivalent_identifiers":["MONDO:0012012","DOID:0110199","OMIM:608323","orphanet:100045","UMLS:C1842237","MESH:C564257","SNOMEDCT:765746008","medgen:334023"],"information_content":100.0}
{"id":"MONDO:0012013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GEMSS syndrome","equivalent_identifiers":["MONDO:0012013","OMIM:608328","orphanet:2084","UMLS:C1869115","UMLS:C2931588","MESH:C537679","SNOMEDCT:722450007","medgen:358388"],"information_content":100.0}
{"id":"MONDO:0012014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease recessive intermediate A","equivalent_identifiers":["MONDO:0012014","DOID:0110201","OMIM:608340","orphanet:217055","UMLS:C1842197","MESH:C564256","medgen:334012"],"information_content":92.8}
{"id":"MONDO:0012015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus 3, congenital, autosomal dominant","equivalent_identifiers":["MONDO:0012015","DOID:0111793","OMIM:608345","UMLS:C1842186","MESH:C537855","medgen:374873"],"information_content":100.0}
{"id":"MONDO:0012016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"capillary malformation-arteriovenous malformation syndrome","equivalent_identifiers":["MONDO:0012016","OMIM.PS:608354","orphanet:137667","UMLS:C1842180","MESH:C564254","NCIT:C179668","SNOMEDCT:703533007","medgen:334007"],"information_content":92.8}
{"id":"MONDO:0012019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia, Kimberley type","equivalent_identifiers":["MONDO:0012019","DOID:0112282","OMIM:608361","orphanet:93283","UMLS:C1842149","MESH:C564252","SNOMEDCT:719203001","medgen:330777","icd11.foundation:485470320"],"information_content":100.0}
{"id":"MONDO:0012020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 22q11.2 microduplication syndrome","equivalent_identifiers":["MONDO:0012020","DOID:0060436","OMIM:608363","orphanet:1727","UMLS:C2675369","MESH:C567224","SNOMEDCT:699311001","medgen:436417"],"information_content":95.4}
{"id":"MONDO:0012021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 17, autosomal dominant","equivalent_identifiers":["MONDO:0012021","OMIM:608367","UMLS:C3888211","medgen:854818"],"information_content":100.0}
{"id":"MONDO:0012023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 49","equivalent_identifiers":["MONDO:0012023","DOID:0110572","OMIM:608372","UMLS:C1842136","MESH:C564250","medgen:331222"],"information_content":100.0}
{"id":"MONDO:0012024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 26","equivalent_identifiers":["MONDO:0012024","DOID:0110368","OMIM:608380","UMLS:C1842127","MESH:C564249","medgen:333996"],"information_content":100.0}
{"id":"MONDO:0012025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchiootic syndrome 3","equivalent_identifiers":["MONDO:0012025","OMIM:608389","UMLS:C1842124","MESH:C564248","medgen:333995"],"information_content":100.0}
{"id":"MONDO:0012029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 6, primary, autosomal recessive","equivalent_identifiers":["MONDO:0012029","DOID:0070290","OMIM:608393","UMLS:C1842109","MESH:C564247","medgen:330770"],"information_content":100.0}
{"id":"MONDO:0012030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 43","equivalent_identifiers":["MONDO:0012030","DOID:0110568","OMIM:608394","UMLS:C1842108","MESH:C564246","medgen:330769"],"information_content":100.0}
{"id":"MONDO:0012031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 10","equivalent_identifiers":["MONDO:0012031","DOID:0111046","OMIM:608404","UMLS:C1842090","MESH:C564245","medgen:374856"],"information_content":100.0}
{"id":"MONDO:0012032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Braddock syndrome","equivalent_identifiers":["MONDO:0012032","OMIM:608406","orphanet:52047","UMLS:C1842082","UMLS:C4303988","MESH:C564244","SNOMEDCT:720575002","medgen:333986"],"information_content":100.0}
{"id":"MONDO:0012033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bradyopsia","equivalent_identifiers":["MONDO:0012033","DOID:0050335","OMIM.PS:608415","orphanet:75374","UMLS:C1842073","MESH:C564243","SNOMEDCT:711163009","medgen:331206","icd11.foundation:1497247503","HP:0030511"],"information_content":92.8}
{"id":"MONDO:0012034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant limb-girdle muscular dystrophy type 1F","equivalent_identifiers":["MONDO:0012034","DOID:0110304","OMIM:608423","orphanet:55595","UMLS:C1842062","MESH:C564242","SNOMEDCT:719989007","medgen:333983"],"information_content":100.0}
{"id":"MONDO:0012037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 3","equivalent_identifiers":["MONDO:0012037","DOID:0081179","OMIM:608443","UMLS:C1838023","MESH:C563929","medgen:373870"],"information_content":100.0}
{"id":"MONDO:0012039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myocardial infarction, susceptibility to","equivalent_identifiers":["MONDO:0012039","OMIM:608446","UMLS:C1832662","UMLS:C1838021","UMLS:C3277063","medgen:318680"],"information_content":100.0}
{"id":"MONDO:0012043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reis-Bucklers corneal dystrophy","equivalent_identifiers":["MONDO:0012043","DOID:0060453","OMIM:608470","orphanet:98961","UMLS:C0339278","MESH:C535476","SNOMEDCT:231930000","medgen:83284"],"information_content":100.0}
{"id":"MONDO:0012044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal dystrophy, lattice type 3A","equivalent_identifiers":["MONDO:0012044","OMIM:608471","UMLS:C1837974","MESH:C563923","medgen:332989"],"information_content":100.0}
{"id":"MONDO:0012045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myopia 5","equivalent_identifiers":["MONDO:0012045","OMIM:608474","UMLS:C1837972","MESH:C563922","medgen:324913"],"information_content":100.0}
{"id":"MONDO:0012052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALG1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0012052","DOID:0080563","OMIM:608540","orphanet:79327","UMLS:C2931005","MESH:C535749","SNOMEDCT:720941007","medgen:419308"],"information_content":100.0}
{"id":"MONDO:0012053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aneurysm, intracranial berry, 2","equivalent_identifiers":["MONDO:0012053","DOID:0080965","OMIM:608542","UMLS:C1837894","MESH:C536360","medgen:325285"],"information_content":100.0}
{"id":"MONDO:0012055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Larsen-like osseous dysplasia-short stature syndrome","equivalent_identifiers":["MONDO:0012055","OMIM:608545","orphanet:2370","UMLS:C1837884","MESH:C563914","medgen:325280"],"information_content":100.0}
{"id":"MONDO:0012056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 9","equivalent_identifiers":["MONDO:0012056","DOID:0110005","OMIM:608553","UMLS:C1837873","MESH:C536603","medgen:325277"],"information_content":100.0}
{"id":"MONDO:0012057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"legionnaire disease, susceptibility to","equivalent_identifiers":["MONDO:0012057","OMIM:608556","UMLS:C1837872","medgen:325276"],"information_content":100.0}
{"id":"MONDO:0012060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 35","equivalent_identifiers":["MONDO:0012060","DOID:0110493","OMIM:608565","UMLS:C1837857","MESH:C563908","medgen:324897"],"information_content":100.0}
{"id":"MONDO:0012061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial sick sinus syndrome","equivalent_identifiers":["MONDO:0012061","OMIM.PS:608567","orphanet:166282","UMLS:C0340491","MESH:C563907","SNOMEDCT:233913007","medgen:573766","icd11.foundation:1495462959"],"information_content":89.4}
{"id":"MONDO:0012062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1O","equivalent_identifiers":["MONDO:0012062","DOID:0110451","OMIM:608569","UMLS:C1837839","MESH:C563906","medgen:325268"],"information_content":100.0}
{"id":"MONDO:0012063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulnar/fibula ray defect-brachydactyly syndrome","equivalent_identifiers":["MONDO:0012063","OMIM:608571","orphanet:52056","UMLS:C1837830","UMLS:C4304397","MESH:C563905","SNOMEDCT:719843001","medgen:324890"],"information_content":100.0}
{"id":"MONDO:0012064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome","equivalent_identifiers":["MONDO:0012064","DOID:0080695","OMIM:608572","orphanet:1200","UMLS:C1835913","UMLS:C1837822","MESH:C537411","MESH:C563682","SNOMEDCT:720640005","medgen:325265"],"information_content":100.0}
{"id":"MONDO:0012066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 1","equivalent_identifiers":["MONDO:0012066","OMIM:608583","UMLS:C1843687","MESH:C538261","medgen:334469"],"information_content":100.0}
{"id":"MONDO:0012067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asthma-related traits, susceptibility to, 2","equivalent_identifiers":["MONDO:0012067","OMIM:608584","UMLS:C1837811","medgen:324885"],"information_content":100.0}
{"id":"MONDO:0012071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital generalized lipodystrophy type 1","equivalent_identifiers":["MONDO:0012071","DOID:0111135","OMIM:608594","UMLS:C1720862","medgen:318592","ICD10:E88.1"],"information_content":100.0}
{"id":"MONDO:0012072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial partial lipodystrophy, Kobberling type","equivalent_identifiers":["MONDO:0012072","DOID:0070207","OMIM:608600","orphanet:79084","UMLS:C1720859","SNOMEDCT:725035001","medgen:318591"],"information_content":100.0}
{"id":"MONDO:0012073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ribose-5-P isomerase deficiency","equivalent_identifiers":["MONDO:0012073","OMIM:608611","orphanet:440706","UMLS:C1291609","MESH:C563212","SNOMEDCT:124667004","medgen:220946"],"information_content":100.0}
{"id":"MONDO:0012074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibuloacral dysplasia with type B lipodystrophy","equivalent_identifiers":["MONDO:0012074","DOID:0081129","OMIM:608612","orphanet:90154","UMLS:C1837756","MESH:C535706","SNOMEDCT:1003432003","medgen:332940","icd11.foundation:1199517264"],"information_content":100.0}
{"id":"MONDO:0012075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligodontia-cancer predisposition syndrome","equivalent_identifiers":["MONDO:0012075","OMIM:608615","orphanet:300576","UMLS:C1837750","MESH:C563898","medgen:324868"],"information_content":100.0}
{"id":"MONDO:0012076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"midface hypoplasia, obesity, developmental delay, and neonatal hypotonia","equivalent_identifiers":["MONDO:0012076","OMIM:608624","UMLS:C1837730","MESH:C563896","medgen:325238"],"information_content":100.0}
{"id":"MONDO:0012077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 8","equivalent_identifiers":["MONDO:0012077","DOID:0050752","OMIM:608627","UMLS:C1837728","MESH:C563895","NCIT:C168751","SNOMEDCT:1204350002","medgen:325237"],"information_content":100.0}
{"id":"MONDO:0012078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 3","equivalent_identifiers":["MONDO:0012078","DOID:0110998","OMIM:608629","UMLS:C1837713","MESH:C536295","NCIT:C148259","medgen:332931"],"information_content":100.0}
{"id":"MONDO:0012079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asperger syndrome, susceptibility to, 2","equivalent_identifiers":["MONDO:0012079","OMIM:608631","UMLS:C1837697","medgen:332517"],"information_content":100.0}
{"id":"MONDO:0012080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 2B","equivalent_identifiers":["MONDO:0012080","DOID:0111207","OMIM:608634","UMLS:C2608087","MESH:C567084","medgen:382017"],"information_content":100.0}
{"id":"MONDO:0012081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"15q11q13 microduplication syndrome","equivalent_identifiers":["MONDO:0012081","OMIM:608636","orphanet:238446","UMLS:C2675336","UMLS:C3807826","MESH:C557830","NCIT:C126692","SNOMEDCT:719427001","medgen:390767"],"information_content":100.0}
{"id":"MONDO:0012082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asperger syndrome, susceptibility to, 1","equivalent_identifiers":["MONDO:0012082","OMIM:608638","UMLS:C1837646","medgen:325218"],"information_content":100.0}
{"id":"MONDO:0012083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 28","equivalent_identifiers":["MONDO:0012083","DOID:0110557","OMIM:608641","UMLS:C1837640","MESH:C563890","medgen:324846"],"information_content":100.0}
{"id":"MONDO:0012084","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aromatic L-amino acid decarboxylase deficiency","equivalent_identifiers":["MONDO:0012084","DOID:0090123","OMIM:608643","orphanet:35708","UMLS:C0342686","UMLS:C1291564","MESH:C537437","MEDDRA:10084110","NCIT:C142085","SNOMEDCT:124600004","SNOMEDCT:237922009","medgen:220945","icd11.foundation:1134258245","ICD10:E70.81"],"information_content":100.0}
{"id":"MONDO:0012085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 3","equivalent_identifiers":["MONDO:0012085","DOID:0110599","OMIM:608644","UMLS:C1837618","MESH:C535278","NCIT:C172392","medgen:325210"],"information_content":100.0}
{"id":"MONDO:0012086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 31","equivalent_identifiers":["MONDO:0012086","DOID:0110561","OMIM:608645","UMLS:C1837617","MESH:C563888","medgen:325209"],"information_content":100.0}
{"id":"MONDO:0012088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 5","equivalent_identifiers":["MONDO:0012088","DOID:0110617","OMIM:608647","UMLS:C1837615","MESH:C563886","medgen:324840"],"information_content":100.0}
{"id":"MONDO:0012089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis prematurity syndrome","equivalent_identifiers":["MONDO:0012089","OMIM:608649","orphanet:88621","UMLS:C1504431","UMLS:C1837610","MESH:C536271","MEDDRA:10063725","NCIT:C62590","SNOMEDCT:12381000132107","SNOMEDCT:763401009","medgen:324839"],"information_content":100.0}
{"id":"MONDO:0012090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 47","equivalent_identifiers":["MONDO:0012090","DOID:0110570","OMIM:608652","UMLS:C1837609","MESH:C563885","medgen:324838"],"information_content":100.0}
{"id":"MONDO:0012091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 32","equivalent_identifiers":["MONDO:0012091","DOID:0110491","OMIM:608653","UMLS:C1837608","MESH:C563884","medgen:373370"],"information_content":100.0}
{"id":"MONDO:0012092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory and autonomic neuropathy type 5","equivalent_identifiers":["MONDO:0012092","DOID:0070145","OMIM:608654","orphanet:64752","UMLS:C0002768","UMLS:C0020075","MESH:D000699","NCIT:C156360","SNOMEDCT:128206006","SNOMEDCT:403605007","medgen:6916","icd11.foundation:1411011731"],"information_content":100.0}
{"id":"MONDO:0012095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-brachydactyly-Pierre Robin syndrome","equivalent_identifiers":["MONDO:0012095","OMIM:608670","orphanet:364577","UMLS:C1837564","MESH:C563880","medgen:325196"],"information_content":100.0}
{"id":"MONDO:0012096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2L","equivalent_identifiers":["MONDO:0012096","DOID:0110174","OMIM:608673","orphanet:99945","UMLS:C1837552","UMLS:C4304673","SNOMEDCT:719513008","medgen:324826"],"information_content":100.0}
{"id":"MONDO:0012097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocostal dysostosis 2, autosomal recessive","equivalent_identifiers":["MONDO:0012097","DOID:0112362","OMIM:608681","UMLS:C1837549","medgen:332481"],"information_content":100.0}
{"id":"MONDO:0012098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 20","equivalent_identifiers":["MONDO:0012098","DOID:0050971","OMIM:608687","orphanet:101110","UMLS:C1837541","MESH:C537199","SNOMEDCT:718771009","medgen:373352","icd11.foundation:960716995"],"information_content":100.0}
{"id":"MONDO:0012099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AICA-ribosiduria","equivalent_identifiers":["MONDO:0012099","OMIM:608688","orphanet:250977","UMLS:C1837530","MESH:C563876","SNOMEDCT:725289009","medgen:332474"],"information_content":100.0}
{"id":"MONDO:0012103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 25","equivalent_identifiers":["MONDO:0012103","DOID:0050974","OMIM:608703","orphanet:101111","UMLS:C1837518","MESH:C537202","SNOMEDCT:718770005","medgen:373347","icd11.foundation:8347192"],"information_content":100.0}
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{"id":"MONDO:0012105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatosis with polyangiitis","equivalent_identifiers":["MONDO:0012105","DOID:12132","OMIM:608710","orphanet:900","EFO:0005297","UMLS:C3495801","UMLS:C4050407","MESH:D014890","MEDDRA:10047888","MEDDRA:10047889","MEDDRA:10072579","MEDDRA:10072580","NCIT:C123111","NCIT:C3444","SNOMEDCT:195353004","medgen:811223","icd11.foundation:1020056159","ICD10:M31.3","ICD9:446.4"],"information_content":95.4}
{"id":"MONDO:0012106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 5, primary, autosomal recessive","equivalent_identifiers":["MONDO:0012106","DOID:0070280","OMIM:608716","UMLS:C1837501","MESH:C563871","medgen:373344"],"information_content":100.0}
{"id":"MONDO:0012108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, matrilin-3 type","equivalent_identifiers":["MONDO:0012108","OMIM:608728","orphanet:156728","UMLS:C1837481","MESH:C563869","SNOMEDCT:719166003","medgen:325181","icd11.foundation:1983063881"],"information_content":100.0}
{"id":"MONDO:0012110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth delay due to insulin-like growth factor type 1 deficiency","equivalent_identifiers":["MONDO:0012110","OMIM:608747","orphanet:73272","UMLS:C1837475","MESH:C563867","NCIT:C120106","SNOMEDCT:724385009","medgen:373337"],"information_content":100.0}
{"id":"MONDO:0012111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 8","equivalent_identifiers":["MONDO:0012111","DOID:0110314","OMIM:608751","UMLS:C1837471","MESH:C563866","medgen:324806"],"information_content":100.0}
{"id":"MONDO:0012112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 10","equivalent_identifiers":["MONDO:0012112","DOID:0110316","OMIM:608758","UMLS:C1834460","MESH:C563865","medgen:331754"],"information_content":100.0}
{"id":"MONDO:0012113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, idiopathic generalized, susceptibility to, 3","equivalent_identifiers":["MONDO:0012113","OMIM:608762","UMLS:C1837468","medgen:373335"],"information_content":100.0}
{"id":"MONDO:0012116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 8","equivalent_identifiers":["MONDO:0012116","DOID:0050959","OMIM:608768","orphanet:98760","UMLS:C1837454","MESH:C537307","SNOMEDCT:715753001","medgen:332457","icd11.foundation:1735913595"],"information_content":100.0}
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{"id":"MONDO:0012118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COG7-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0012118","DOID:0070257","OMIM:608779","orphanet:79333","UMLS:C2931010","MESH:C535754","SNOMEDCT:717773005","medgen:419311"],"information_content":100.0}
{"id":"MONDO:0012120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate dehydrogenase phosphatase deficiency","equivalent_identifiers":["MONDO:0012120","OMIM:608782","orphanet:79246","UMLS:C1837429","MESH:C536258","SNOMEDCT:1003847003","medgen:332448","icd11.foundation:1709497558"],"information_content":100.0}
{"id":"MONDO:0012123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation type 1E","equivalent_identifiers":["MONDO:0012123","DOID:0080557","OMIM:608799","orphanet:79322","UMLS:C1837396","MESH:C535743","NCIT:C126871","SNOMEDCT:725078006","medgen:324784"],"information_content":100.0}
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{"id":"MONDO:0012126","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial avascular necrosis of femoral head","equivalent_identifiers":["MONDO:0012126","OMIM.PS:608805","orphanet:86820","UMLS:C0015814","UMLS:C0524595","UMLS:C4275066","MESH:D005271","NCIT:C35480","SNOMEDCT:715657008","medgen:909851","icd11.foundation:1216860745"],"information_content":92.8}
{"id":"MONDO:0012127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2J","equivalent_identifiers":["MONDO:0012127","DOID:0110283","OMIM:608807","orphanet:140922","UMLS:C1837342","MESH:C563854","SNOMEDCT:725042001","medgen:324741"],"information_content":100.0}
{"id":"MONDO:0012130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy 2","equivalent_identifiers":["MONDO:0012130","DOID:0080093","OMIM:608810","orphanet:399058","UMLS:C1837317","MESH:C563848","medgen:324735"],"information_content":100.0}
{"id":"MONDO:0012136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carnitine palmitoyl transferase II deficiency, neonatal form","equivalent_identifiers":["MONDO:0012136","OMIM:608836","orphanet:228308","UMLS:C1833518","MESH:C563463","medgen:318896"],"information_content":100.0}
{"id":"MONDO:0012137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carney complex - trismus - pseudocamptodactyly syndrome","equivalent_identifiers":["MONDO:0012137","OMIM:608837","orphanet:319340","UMLS:C1837245","MESH:C563845","medgen:332400"],"information_content":100.0}
{"id":"MONDO:0012138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy type B6","equivalent_identifiers":["MONDO:0012138","DOID:0110637","OMIM:608840","UMLS:C1837229","MESH:C563844","medgen:373284"],"information_content":100.0}
{"id":"MONDO:0012139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular dystrophy, retinal, 3","equivalent_identifiers":["MONDO:0012139","DOID:0070440","OMIM:608850","UMLS:C3888009","medgen:854716"],"information_content":100.0}
{"id":"MONDO:0012141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 6, susceptibility to","equivalent_identifiers":["MONDO:0012141","DOID:0080593","OMIM:608864","UMLS:C1837213","medgen:332391"],"information_content":100.0}
{"id":"MONDO:0012142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 5","equivalent_identifiers":["MONDO:0012142","DOID:0080399","OMIM:608874","UMLS:C1837210","MESH:C563843","medgen:373280"],"information_content":100.0}
{"id":"MONDO:0012143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary cryohydrocytosis with reduced stomatin","equivalent_identifiers":["MONDO:0012143","OMIM:608885","orphanet:168577","UMLS:C1837206","MESH:C563840","medgen:332390","icd11.foundation:1459095719"],"information_content":100.0}
{"id":"MONDO:0012145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular degeneration, age-related, 3","equivalent_identifiers":["MONDO:0012145","OMIM:608895","UMLS:C1837187","MESH:C563838","medgen:373276"],"information_content":100.0}
{"id":"MONDO:0012146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hemophagocytic lymphohistiocytosis 3","equivalent_identifiers":["MONDO:0012146","DOID:0110923","OMIM:608898","UMLS:C1837174","MESH:C537251","NCIT:C203463","medgen:332383"],"information_content":92.8}
{"id":"MONDO:0012153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 9","equivalent_identifiers":["MONDO:0012153","DOID:0111364","OMIM:608907","UMLS:C1837149","UMLS:C4282179","MESH:C563834","medgen:924255"],"information_content":100.0}
{"id":"MONDO:0012154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 6","equivalent_identifiers":["MONDO:0012154","OMIM:608908","UMLS:C1837148","MESH:C536105","medgen:324696"],"information_content":100.0}
{"id":"MONDO:0012155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choanal atresia","equivalent_identifiers":["MONDO:0012155","DOID:9574","OMIM:608911","orphanet:137914","UMLS:C0008297","UMLS:C0220723","MESH:C562435","MESH:D002754","MEDDRA:10008587","SNOMEDCT:204508009","medgen:3395","icd11.foundation:2099486655","ICD10:Q30.0","ICD9:748.0","HP:0000453"],"information_content":89.4}
{"id":"MONDO:0012156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myasthenic syndrome, congenital, 1B, fast-channel","equivalent_identifiers":["MONDO:0012156","DOID:0110662","OMIM:608930","UMLS:C4225405","medgen:909200"],"information_content":100.0}
{"id":"MONDO:0012157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 4C","equivalent_identifiers":["MONDO:0012157","DOID:0110679","OMIM:608931","UMLS:C1837091","MESH:C536090","NCIT:C174216","medgen:373251"],"information_content":100.0}
{"id":"MONDO:0012160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia-cone-rod dystrophy syndrome","equivalent_identifiers":["MONDO:0012160","DOID:0112300","OMIM:608940","orphanet:85167","UMLS:C1837073","MESH:C563825","medgen:324684"],"information_content":100.0}
{"id":"MONDO:0012161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"susceptibility to respiratory infections associated with CD8alpha chain mutation","equivalent_identifiers":["MONDO:0012161","DOID:0061082","OMIM:608957","orphanet:169085","UMLS:C1837065","MESH:C563824","SNOMEDCT:766983005","medgen:323058"],"information_content":100.0}
{"id":"MONDO:0012162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patterned macular dystrophy 2","equivalent_identifiers":["MONDO:0012162","DOID:0060864","OMIM:608970","UMLS:C1837029","medgen:332348"],"information_content":100.0}
{"id":"MONDO:0012163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 104","equivalent_identifiers":["MONDO:0012163","DOID:0090014","OMIM:608971","UMLS:C1837028","UMLS:C5676890","MESH:C563822","NCIT:C176804","medgen:1801019","ICD10:D81.2"],"information_content":92.8}
{"id":"MONDO:0012164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meacham syndrome","equivalent_identifiers":["MONDO:0012164","OMIM:608978","orphanet:3097","UMLS:C1837026","MESH:C538162","SNOMEDCT:722461004","medgen:373234","icd11.foundation:1307620543"],"information_content":100.0}
{"id":"MONDO:0012165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BNAR syndrome","equivalent_identifiers":["MONDO:0012165","OMIM:608980","orphanet:217266","UMLS:C2750433","MESH:C567672","SNOMEDCT:717940006","medgen:413305"],"information_content":100.0}
{"id":"MONDO:0012166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant sensory ataxia 1","equivalent_identifiers":["MONDO:0012166","DOID:0111170","OMIM:608984","UMLS:C1837015","MESH:C563818","medgen:332346"],"information_content":100.0}
{"id":"MONDO:0012167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 2","equivalent_identifiers":["MONDO:0012167","OMIM:608988","UMLS:C1837812","MESH:C563903","medgen:324886"],"information_content":100.0}
{"id":"MONDO:0012168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyslexia, susceptibility to, 8","equivalent_identifiers":["MONDO:0012168","OMIM:608995","UMLS:C1837009","medgen:332344"],"information_content":100.0}
{"id":"MONDO:0012169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 3","equivalent_identifiers":["MONDO:0012169","DOID:0080860","OMIM:608996","UMLS:C1837008","MESH:C563816","medgen:373230"],"information_content":100.0}
{"id":"MONDO:0012170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 36","equivalent_identifiers":["MONDO:0012170","DOID:0110494","OMIM:609006","UMLS:C1837007","UMLS:C3149566","UMLS:C3496242","MESH:C563815","NCIT:C174436","medgen:324662"],"information_content":100.0}
{"id":"MONDO:0012171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"marfanoid habitus with situs inversus","equivalent_identifiers":["MONDO:0012171","OMIM:609008","UMLS:C1836994","MESH:C563814","medgen:323046"],"information_content":100.0}
{"id":"MONDO:0012172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial trifunctional protein deficiency","equivalent_identifiers":["MONDO:0012172","DOID:0111277","OMIM.PS:609015","orphanet:746","UMLS:C0342785","UMLS:C1969443","UMLS:C4477062","UMLS:C4477063","MESH:C566945","MEDDRA:10077949","NCIT:C98991","SNOMEDCT:237998000","SNOMEDCT:237999008","medgen:370665","icd11.foundation:1018083832","HP:0100950"],"information_content":92.8}
{"id":"MONDO:0012173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0012173","OMIM:609016","orphanet:5","UMLS:C3711645","MEDDRA:10072278","MEDDRA:10078728","NCIT:C129929","SNOMEDCT:726021008","medgen:778253","icd11.foundation:760613381"],"information_content":100.0}
{"id":"MONDO:0012174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral cone dystrophy","equivalent_identifiers":["MONDO:0012174","OMIM:609021","UMLS:C1836946","MESH:C563813","medgen:323031"],"information_content":100.0}
{"id":"MONDO:0012176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Emanuel syndrome","equivalent_identifiers":["MONDO:0012176","OMIM:609029","orphanet:96170","UMLS:C1836929","MESH:C535733","MEDDRA:10079203","SNOMEDCT:702417004","medgen:323030"],"information_content":100.0}
{"id":"MONDO:0012177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior column ataxia-retinitis pigmentosa syndrome","equivalent_identifiers":["MONDO:0012177","OMIM:609033","orphanet:88628","UMLS:C1836916","MESH:C536343","SNOMEDCT:724065003","medgen:324636"],"information_content":100.0}
{"id":"MONDO:0012179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"narcolepsy 3","equivalent_identifiers":["MONDO:0012179","OMIM:609039","UMLS:C1836907","medgen:332320"],"information_content":100.0}
{"id":"MONDO:0012180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 9","equivalent_identifiers":["MONDO:0012180","DOID:0110077","OMIM:609040","UMLS:C1836906","MESH:C563808","NCIT:C173471","medgen:373205"],"information_content":100.0}
{"id":"MONDO:0012181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 27","equivalent_identifiers":["MONDO:0012181","DOID:0110778","OMIM:609041","orphanet:101007","UMLS:C1836899","MESH:C563807","SNOMEDCT:778030005","medgen:373203"],"information_content":100.0}
{"id":"MONDO:0012184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pierson syndrome","equivalent_identifiers":["MONDO:0012184","DOID:0060852","OMIM:609049","orphanet:2670","UMLS:C1836876","MESH:C537185","NCIT:C128145","SNOMEDCT:723449004","medgen:373199","icd11.foundation:555082533"],"information_content":100.0}
{"id":"MONDO:0012185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia, A4 type","equivalent_identifiers":["MONDO:0012185","DOID:0112301","OMIM:609052","orphanet:168555","UMLS:C1836862","MESH:C563803","SNOMEDCT:782912001","medgen:324620","icd11.foundation:696316924"],"information_content":100.0}
{"id":"MONDO:0012186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group I","equivalent_identifiers":["MONDO:0012186","DOID:0111091","OMIM:609053","UMLS:C1836861","MESH:C563802","NCIT:C129026","medgen:323016"],"information_content":92.8}
{"id":"MONDO:0012187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group J","equivalent_identifiers":["MONDO:0012187","DOID:0111097","OMIM:609054","UMLS:C1836860","MESH:C563801","NCIT:C129027","medgen:323015"],"information_content":92.8}
{"id":"MONDO:0012188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 9","equivalent_identifiers":["MONDO:0012188","DOID:0110733","OMIM:609055","UMLS:C1836841","MESH:C537953","medgen:332304"],"information_content":100.0}
{"id":"MONDO:0012190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 7, with nephropathy and deafness","equivalent_identifiers":["MONDO:0012190","OMIM:609057","orphanet:300333","UMLS:C1836823","MESH:C563798","medgen:323004"],"information_content":100.0}
{"id":"MONDO:0012191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatoencephalopathy due to combined oxidative phosphorylation defect type 1","equivalent_identifiers":["MONDO:0012191","DOID:0111474","OMIM:609060","orphanet:137681","UMLS:C1836797","UMLS:C4707239","MESH:C563797","NCIT:C125663","SNOMEDCT:764962002","medgen:322999"],"information_content":100.0}
{"id":"MONDO:0012192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","equivalent_identifiers":["MONDO:0012192","OMIM:609069","orphanet:65288","UMLS:C1836780","MESH:C563796","medgen:332288"],"information_content":100.0}
{"id":"MONDO:0012193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant limb-girdle muscular dystrophy type 1G","equivalent_identifiers":["MONDO:0012193","DOID:0110306","OMIM:609115","orphanet:55596","UMLS:C1836765","MESH:C563794","SNOMEDCT:719990003","medgen:322993"],"information_content":100.0}
{"id":"MONDO:0012194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aneurysm, intracranial berry, 3","equivalent_identifiers":["MONDO:0012194","DOID:0080966","OMIM:609122","UMLS:C1836757","MESH:C563792","medgen:332280"],"information_content":100.0}
{"id":"MONDO:0012195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis-severe scoliosis syndrome","equivalent_identifiers":["MONDO:0012195","DOID:0111610","OMIM:609128","orphanet:65720","UMLS:C1836756","MESH:C563791","SNOMEDCT:715575001","medgen:373169"],"information_content":100.0}
{"id":"MONDO:0012196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant auditory neuropathy 1","equivalent_identifiers":["MONDO:0012196","DOID:0060690","OMIM:609129","UMLS:C1836743","MESH:C563790","medgen:322984"],"information_content":100.0}
{"id":"MONDO:0012197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic aplastic anemia","equivalent_identifiers":["MONDO:0012197","OMIM:609135","orphanet:88","UMLS:C0348890","MESH:C538494","NCIT:C61230","SNOMEDCT:191256002","medgen:87595","icd11.foundation:1615519452"],"information_content":95.4}
{"id":"MONDO:0012198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PCWH syndrome","equivalent_identifiers":["MONDO:0012198","DOID:0090111","OMIM:609136","orphanet:163746","UMLS:C1836727","MESH:C563789","SNOMEDCT:765325002","medgen:373160"],"information_content":100.0}
{"id":"MONDO:0012199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior polymorphous corneal dystrophy 2","equivalent_identifiers":["MONDO:0012199","DOID:0110856","OMIM:609140","UMLS:C1852795","MESH:C565176","medgen:377757"],"information_content":100.0}
{"id":"MONDO:0012200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior polymorphous corneal dystrophy 3","equivalent_identifiers":["MONDO:0012200","DOID:0110857","OMIM:609141","UMLS:C1836724","MESH:C563788","medgen:322978"],"information_content":100.0}
{"id":"MONDO:0012202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malaria, mild, susceptibility to","equivalent_identifiers":["MONDO:0012202","OMIM:609148","UMLS:C1836721","medgen:332274"],"information_content":100.0}
{"id":"MONDO:0012203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hyperthyroidism due to mutations in TSH receptor","equivalent_identifiers":["MONDO:0012203","DOID:0081101","OMIM:609152","orphanet:424","UMLS:C1836706","MESH:C563786","medgen:373154"],"information_content":100.0}
{"id":"MONDO:0012204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial pseudohyperkalemia","equivalent_identifiers":["MONDO:0012204","OMIM:609153","orphanet:90044","UMLS:C1836705","UMLS:C4273970","MESH:C563785","SNOMEDCT:717254007","medgen:324588","icd11.foundation:1653996588"],"information_content":100.0}
{"id":"MONDO:0012205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant striatal neurodegeneration type 1","equivalent_identifiers":["MONDO:0012205","OMIM:609161","UMLS:C4310808","UMLS:C4511004","SNOMEDCT:725392005","medgen:934775"],"information_content":100.0}
{"id":"MONDO:0012206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia with metatarsal shortening","equivalent_identifiers":["MONDO:0012206","OMIM:609162","orphanet:137678","UMLS:C1836683","MESH:C535766","SNOMEDCT:720826006","medgen:324580"],"information_content":100.0}
{"id":"MONDO:0012208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital reticular ichthyosiform erythroderma","equivalent_identifiers":["MONDO:0012208","OMIM:609165","orphanet:281190","UMLS:C1836681","UMLS:C3665704","MESH:C563781","SNOMEDCT:703504006","medgen:777141","icd11.foundation:565254051"],"information_content":100.0}
{"id":"MONDO:0012209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchiogenic deafness syndrome","equivalent_identifiers":["MONDO:0012209","OMIM:609166","orphanet:50815","UMLS:C1836673","MESH:C563780","SNOMEDCT:717944002","medgen:322970"],"information_content":100.0}
{"id":"MONDO:0012211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MPDU1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0012211","DOID:0080558","OMIM:609180","orphanet:79323","UMLS:C1836669","MESH:C535744","NCIT:C126872","SNOMEDCT:724096007","medgen:322968"],"information_content":100.0}
{"id":"MONDO:0012212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Loeys-Dietz syndrome 1","equivalent_identifiers":["MONDO:0012212","DOID:0070235","OMIM:609192","UMLS:C1836635","UMLS:C2674127","UMLS:C2697933","UMLS:C2931764","UMLS:C4551955","MESH:C538192","MESH:C567156","NCIT:C75119","medgen:1646567"],"information_content":100.0}
{"id":"MONDO:0012213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 26","equivalent_identifiers":["MONDO:0012213","DOID:0110777","OMIM:609195","orphanet:101006","UMLS:C1836632","MESH:C536862","SNOMEDCT:726607007","medgen:373138"],"information_content":100.0}
{"id":"MONDO:0012214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucocorticoid deficiency 3","equivalent_identifiers":["MONDO:0012214","OMIM:609197","UMLS:C1836621","MESH:C563776","NCIT:C131451","medgen:332252"],"information_content":100.0}
{"id":"MONDO:0012215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myotilinopathy","equivalent_identifiers":["MONDO:0012215","DOID:0080094","OMIM:609200","orphanet:266","orphanet:268129","orphanet:98911","UMLS:C1834659","UMLS:C1866785","UMLS:C3714934","UMLS:C4304304","UMLS:C4707358","MESH:C000598645","MESH:C535906","MESH:C563775","SNOMEDCT:719985001","SNOMEDCT:765092004","SNOMEDCT:765196004","medgen:811509"],"information_content":100.0}
{"id":"MONDO:0012216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome","equivalent_identifiers":["MONDO:0012216","DOID:0070531","OMIM:609218","orphanet:397618","UMLS:C1836603","UMLS:C3807873","UMLS:C5190596","MESH:C563774","SNOMEDCT:782754006","medgen:814203"],"information_content":100.0}
{"id":"MONDO:0012217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bruck syndrome 2","equivalent_identifiers":["MONDO:0012217","OMIM:609220","UMLS:C1836602","MESH:C537407","medgen:373129"],"information_content":100.0}
{"id":"MONDO:0012218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dandy-walker malformation with occipital cephalocele, autosomal dominant","equivalent_identifiers":["MONDO:0012218","OMIM:609222","UMLS:C2674987","MESH:C567185","medgen:393273"],"information_content":100.0}
{"id":"MONDO:0012219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type","equivalent_identifiers":["MONDO:0012219","DOID:0112291","OMIM:609223","UMLS:C1836584","MESH:C563772","medgen:373126"],"information_content":100.0}
{"id":"MONDO:0012220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Griscelli syndrome type 3","equivalent_identifiers":["MONDO:0012220","DOID:0060834","OMIM:609227","orphanet:79478","UMLS:C1836573","MESH:C537303","SNOMEDCT:1254947002","medgen:373124","icd11.foundation:1959052636"],"information_content":100.0}
{"id":"MONDO:0012221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-N-acetylgalactosaminidase deficiency type 1","equivalent_identifiers":["MONDO:0012221","DOID:0112318","OMIM:609241","orphanet:79279","UMLS:C1836544","MESH:C536631","SNOMEDCT:879937000","medgen:373113","icd11.foundation:1058486825"],"information_content":100.0}
{"id":"MONDO:0012222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kanzaki disease","equivalent_identifiers":["MONDO:0012222","DOID:0112319","OMIM:609242","orphanet:79280","UMLS:C1836522","SNOMEDCT:880065001","medgen:324539","icd11.foundation:266505438"],"information_content":100.0}
{"id":"MONDO:0012224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"febrile seizures, familial, 6","equivalent_identifiers":["MONDO:0012224","DOID:0111309","OMIM:609253","UMLS:C1836518","MESH:C563764","medgen:373107"],"information_content":100.0}
{"id":"MONDO:0012225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Loken syndrome 5","equivalent_identifiers":["MONDO:0012225","OMIM:609254","UMLS:C1836517","MESH:C563763","medgen:332226"],"information_content":100.0}
{"id":"MONDO:0012226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"febrile seizures, familial, 5","equivalent_identifiers":["MONDO:0012226","DOID:0111306","OMIM:609255","UMLS:C1836507","MESH:C563762","medgen:322934"],"information_content":100.0}
{"id":"MONDO:0012227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 7","inheritance":"Multifactorial inheritance","equivalent_identifiers":["MONDO:0012227","OMIM:609256","UMLS:C1836506","MESH:C563761","medgen:373105"],"information_content":100.0}
{"id":"MONDO:0012228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 8","equivalent_identifiers":["MONDO:0012228","OMIM:609257","UMLS:C1836505","MESH:C563760","medgen:332223"],"information_content":100.0}
{"id":"MONDO:0012229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 9","equivalent_identifiers":["MONDO:0012229","OMIM:609258","UMLS:C1836504","MESH:C563759","medgen:332222"],"information_content":100.0}
{"id":"MONDO:0012230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 10","equivalent_identifiers":["MONDO:0012230","OMIM:609259","UMLS:C1836503","MESH:C563758","medgen:373104"],"information_content":100.0}
{"id":"MONDO:0012231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2A2","equivalent_identifiers":["MONDO:0012231","DOID:0110155","OMIM:609260","orphanet:99947","UMLS:C1836485","UMLS:C4721887","MESH:C563757","NCIT:C150646","SNOMEDCT:764850002","medgen:1648317","icd11.foundation:1274363794"],"information_content":100.0}
{"id":"MONDO:0012235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spinocerebellar ataxia 7","equivalent_identifiers":["MONDO:0012235","DOID:0080059","OMIM:609270","orphanet:284324","UMLS:C1836474","MESH:C563753","SNOMEDCT:785301002","medgen:324520"],"information_content":100.0}
{"id":"MONDO:0012237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nemaline myopathy 6","equivalent_identifiers":["MONDO:0012237","DOID:0110935","OMIM:609273","UMLS:C1836472","MESH:C538398","medgen:373095"],"information_content":100.0}
{"id":"MONDO:0012238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2","equivalent_identifiers":["MONDO:0012238","DOID:0111517","OMIM:609283","UMLS:C1836460","MESH:C563750","medgen:322925"],"information_content":100.0}
{"id":"MONDO:0012239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy 4B, autosomal recessive","equivalent_identifiers":["MONDO:0012239","DOID:0110926","OMIM:609284","UMLS:C1836448","UMLS:C5829889","MESH:C538348","medgen:1840525"],"information_content":100.0}
{"id":"MONDO:0012240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy 23","equivalent_identifiers":["MONDO:0012240","DOID:0110932","OMIM:609285","UMLS:C1836447","MESH:C538351","NCIT:C164225","medgen:324513"],"information_content":100.0}
{"id":"MONDO:0012241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3","equivalent_identifiers":["MONDO:0012241","DOID:0111520","OMIM:609286","UMLS:C1836439","MESH:C563747","medgen:373087"],"information_content":100.0}
{"id":"MONDO:0012242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syncope, familial vasovagal","equivalent_identifiers":["MONDO:0012242","OMIM:609289","UMLS:C1836438","MESH:C536849","medgen:373086"],"information_content":100.0}
{"id":"MONDO:0012243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations","equivalent_identifiers":["MONDO:0012243","OMIM:609296","orphanet:567502","UMLS:C1836437","MESH:C563745","SNOMEDCT:1230295000","medgen:332208"],"information_content":100.0}
{"id":"MONDO:0012245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 3","equivalent_identifiers":["MONDO:0012245","DOID:0080440","OMIM:609304","UMLS:C5574665","MESH:C562695","medgen:1801135"],"information_content":100.0}
{"id":"MONDO:0012246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 26","equivalent_identifiers":["MONDO:0012246","DOID:0050975","OMIM:609306","orphanet:101112","UMLS:C1836395","MESH:C537203","SNOMEDCT:718769009","medgen:373077","icd11.foundation:586976339"],"information_content":100.0}
{"id":"MONDO:0012247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 27","equivalent_identifiers":["MONDO:0012247","DOID:0050976","orphanet:98764","UMLS:C1836383","MESH:C537204","SNOMEDCT:719252002","medgen:373075","icd11.foundation:1408059647"],"information_content":100.0}
{"id":"MONDO:0012248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2K","equivalent_identifiers":["MONDO:0012248","DOID:0110297","OMIM:609308","orphanet:86812","EFO:0009145","UMLS:C1836373","NCIT:C133730","SNOMEDCT:720523006","medgen:332193"],"information_content":100.0}
{"id":"MONDO:0012250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4H","equivalent_identifiers":["MONDO:0012250","DOID:0110192","OMIM:609311","orphanet:99954","UMLS:C1836336","MESH:C563740","SNOMEDCT:715802008","medgen:324487","icd11.foundation:214411126"],"information_content":100.0}
{"id":"MONDO:0012251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MEDNIK syndrome","equivalent_identifiers":["MONDO:0012251","DOID:0060483","OMIM:609313","orphanet:171851","UMLS:C1836330","MESH:C563739","SNOMEDCT:722035007","medgen:322893"],"information_content":100.0}
{"id":"MONDO:0012253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia, with severe proximal femoral dysplasia","equivalent_identifiers":["MONDO:0012253","OMIM:609324","orphanet:166029","UMLS:C1836315","MESH:C563736","SNOMEDCT:763893008","medgen:324484"],"information_content":100.0}
{"id":"MONDO:0012256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 28","equivalent_identifiers":["MONDO:0012256","DOID:0110779","OMIM:609340","orphanet:101008","UMLS:C1836295","MESH:C563732","SNOMEDCT:763376002","medgen:332174"],"information_content":100.0}
{"id":"MONDO:0012258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 2E, with migratory circinate erythema","equivalent_identifiers":["MONDO:0012258","OMIM:609352","orphanet:158681","UMLS:C1836284","MESH:C563730","SNOMEDCT:716700003","medgen:324475"],"information_content":100.0}
{"id":"MONDO:0012260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 35","equivalent_identifiers":["MONDO:0012260","DOID:0110261","OMIM:609376","UMLS:C1836272","MESH:C563728","medgen:373050"],"information_content":100.0}
{"id":"MONDO:0012262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrosis of extraocular muscles, congenital, 3c","equivalent_identifiers":["MONDO:0012262","DOID:0081019","OMIM:609384","EFO:1001985","UMLS:C2750404","MESH:C567666","medgen:412956"],"information_content":100.0}
{"id":"MONDO:0012266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preeclampsia/eclampsia 4","inheritance":"Polygenic inheritance","equivalent_identifiers":["MONDO:0012266","OMIM:609404","UMLS:C1836255","MESH:C563724","medgen:322874"],"information_content":100.0}
{"id":"MONDO:0012269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 3q29 microdeletion syndrome","equivalent_identifiers":["MONDO:0012269","DOID:0060419","OMIM:609425","orphanet:65286","UMLS:C2674949","MESH:C567184","SNOMEDCT:716456000","medgen:393265"],"information_content":100.0}
{"id":"MONDO:0012270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tukel syndrome","equivalent_identifiers":["MONDO:0012270","DOID:0081021","OMIM:609428","UMLS:C1836217","MESH:C536925","medgen:332153","icd11.foundation:2132105652"],"information_content":100.0}
{"id":"MONDO:0012271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesoaxial synostotic syndactyly with phalangeal reduction","equivalent_identifiers":["MONDO:0012271","OMIM:609432","orphanet:157801","UMLS:C1836206","MESH:C563721","SNOMEDCT:724170007","medgen:324459"],"information_content":100.0}
{"id":"MONDO:0012273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 48","equivalent_identifiers":["MONDO:0012273","DOID:0110505","OMIM:609439","UMLS:C1836199","MESH:C563720","medgen:332149"],"information_content":100.0}
{"id":"MONDO:0012274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromesomelic dysplasia 3","equivalent_identifiers":["MONDO:0012274","DOID:0081237","OMIM:609441","UMLS:C1836182","UMLS:C4225404","MESH:C537913","medgen:904735"],"information_content":100.0}
{"id":"MONDO:0012275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal valproate syndrome","equivalent_identifiers":["MONDO:0012275","DOID:0060471","OMIM:609442","orphanet:1906","UMLS:C0236026","UMLS:C1876218","MESH:C536525","MEDDRA:10016524","MEDDRA:10016870","MEDDRA:10091151","MEDDRA:10091152","NCIT:C98930","SNOMEDCT:17231009","medgen:65922","icd11.foundation:1055155432"],"information_content":100.0}
{"id":"MONDO:0012276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized epilepsy-paroxysmal dyskinesia syndrome","equivalent_identifiers":["MONDO:0012276","DOID:0070442","OMIM:609446","orphanet:79137","UMLS:C1836173","UMLS:C5574945","MESH:C563719","SNOMEDCT:715629001","medgen:1801137"],"information_content":100.0}
{"id":"MONDO:0012277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy 4","equivalent_identifiers":["MONDO:0012277","DOID:0080095","OMIM:609452","orphanet:98912","UMLS:C1836155","UMLS:C4721886","MESH:C563718","SNOMEDCT:770558006","medgen:1648314"],"information_content":100.0}
{"id":"MONDO:0012278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"supranuclear palsy, progressive, 2","equivalent_identifiers":["MONDO:0012278","OMIM:609454","UMLS:C1836148","MESH:C563717","medgen:324446"],"information_content":100.0}
{"id":"MONDO:0012280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Goldberg-Shprintzen syndrome","equivalent_identifiers":["MONDO:0012280","DOID:0060481","OMIM:609460","orphanet:66629","UMLS:C1836123","MESH:C537279","SNOMEDCT:717822006","medgen:332131"],"information_content":100.0}
{"id":"MONDO:0012282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Al-Gazali syndrome","equivalent_identifiers":["MONDO:0012282","OMIM:609465","UMLS:C1836121","MESH:C536817","SNOMEDCT:1208342001","medgen:373020"],"information_content":100.0}
{"id":"MONDO:0012285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"left ventricular noncompaction 2","equivalent_identifiers":["MONDO:0012285","OMIM:609470","UMLS:C1836118","medgen:322827"],"information_content":100.0}
{"id":"MONDO:0012286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, autophagic vacuolar, infantile-onset","equivalent_identifiers":["MONDO:0012286","OMIM:609500","UMLS:C2931230","medgen:419364"],"information_content":100.0}
{"id":"MONDO:0012287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stickler syndrome, type I, nonsyndromic ocular","equivalent_identifiers":["MONDO:0012287","OMIM:609508","UMLS:C1836080","MESH:C563709","medgen:322820"],"information_content":100.0}
{"id":"MONDO:0012289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy 5","equivalent_identifiers":["MONDO:0012289","DOID:0080096","OMIM:609524","orphanet:171445","UMLS:C1836050","MESH:C537932","medgen:372186"],"information_content":100.0}
{"id":"MONDO:0012290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CEDNIK syndrome","equivalent_identifiers":["MONDO:0012290","DOID:0060337","OMIM:609528","orphanet:66631","UMLS:C1836033","MESH:C537943","SNOMEDCT:722385008","medgen:332113"],"information_content":100.0}
{"id":"MONDO:0012291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunoglobulin A deficiency 2","equivalent_identifiers":["MONDO:0012291","OMIM:609529","UMLS:C1836032","MESH:C536291","medgen:372182"],"information_content":100.0}
{"id":"MONDO:0012292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatitis C virus, susceptibility to","equivalent_identifiers":["MONDO:0012292","OMIM:609532","UMLS:C1835407","UMLS:C1836031","UMLS:C2750389","medgen:322657"],"information_content":100.0}
{"id":"MONDO:0012293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 23","equivalent_identifiers":["MONDO:0012293","DOID:0110481","OMIM:609533","UMLS:C1836027","MESH:C563705","medgen:332110"],"information_content":100.0}
{"id":"MONDO:0012295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C5 Deficiency","equivalent_identifiers":["MONDO:0012295","DOID:8158","OMIM:609536","UMLS:C0343047","MESH:C537005","MEDDRA:10075556","NCIT:C9469","SNOMEDCT:263661007","medgen:91003"],"information_content":90.9}
{"id":"MONDO:0012296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipomyelomeningocele","equivalent_identifiers":["MONDO:0012296","OMIM:609537","UMLS:C1836022","MESH:C537030","SNOMEDCT:104431000119107","medgen:332109","icd11.foundation:1919145296","HP:0025480"],"information_content":100.0}
{"id":"MONDO:0012297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SPOAN syndrome","equivalent_identifiers":["MONDO:0012297","DOID:0060491","OMIM:609541","orphanet:320406","UMLS:C1836010","MESH:C563702","SNOMEDCT:725139005","medgen:324411"],"information_content":100.0}
{"id":"MONDO:0012299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nanophthalmos 2","equivalent_identifiers":["MONDO:0012299","OMIM:609549","UMLS:C1836006","MESH:C563700","medgen:372177"],"information_content":100.0}
{"id":"MONDO:0012301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome, myopathic form","equivalent_identifiers":["MONDO:0012301","DOID:0080120","OMIM:609560","orphanet:254875","UMLS:C3149750","UMLS:C3501891","MESH:C563698","NCIT:C185236","SNOMEDCT:703527003","medgen:461100","icd11.foundation:294556832"],"information_content":100.0}
{"id":"MONDO:0012302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parietal foramina 3","equivalent_identifiers":["MONDO:0012302","OMIM:609566","UMLS:C1835980","MESH:C563697","medgen:322792"],"information_content":100.0}
{"id":"MONDO:0012307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial scaphocephaly syndrome, McGillivray type","equivalent_identifiers":["MONDO:0012307","OMIM:609579","orphanet:168624","UMLS:C1865070","MESH:C566511","medgen:355365","icd11.foundation:512057922"],"information_content":100.0}
{"id":"MONDO:0012308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome with renal defect","equivalent_identifiers":["MONDO:0012308","DOID:0110999","OMIM:609583","orphanet:220497","UMLS:C1846790","UMLS:C4274117","MESH:C536296","NCIT:C74997","SNOMEDCT:716999001","medgen:335526","icd11.foundation:1419767028"],"information_content":95.4}
{"id":"MONDO:0012309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parietal foramina 2","equivalent_identifiers":["MONDO:0012309","OMIM:609597","UMLS:C1865044","MESH:C566510","medgen:355358"],"information_content":100.0}
{"id":"MONDO:0012310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrosis of extraocular muscles, congenital, with synergistic divergence","equivalent_identifiers":["MONDO:0012310","OMIM:609612","UMLS:C1865040","UMLS:C1865041","MESH:C566508","MESH:C566509","medgen:351285"],"information_content":100.0}
{"id":"MONDO:0012311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness","equivalent_identifiers":["MONDO:0012311","OMIM:609616","UMLS:C1865022","MESH:C566507","medgen:355893"],"information_content":100.0}
{"id":"MONDO:0012312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short QT syndrome type 1","equivalent_identifiers":["MONDO:0012312","OMIM:609620","UMLS:C1865020","MESH:C566506","medgen:355891"],"information_content":100.0}
{"id":"MONDO:0012313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short QT syndrome type 2","equivalent_identifiers":["MONDO:0012313","OMIM:609621","UMLS:C1865019","MESH:C566505","medgen:355890"],"information_content":100.0}
{"id":"MONDO:0012314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short QT syndrome type 3","equivalent_identifiers":["MONDO:0012314","OMIM:609622","UMLS:C1865018","MESH:C566504","medgen:400662"],"information_content":100.0}
{"id":"MONDO:0012315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal 10q deletion syndrome","equivalent_identifiers":["MONDO:0012315","DOID:0060390","OMIM:609625","orphanet:96148","UMLS:C2674937","UMLS:C4305277","MESH:C567182","SNOMEDCT:718687003","medgen:436306","ICD10:Q93.5"],"information_content":100.0}
{"id":"MONDO:0012316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Majeed syndrome","equivalent_identifiers":["MONDO:0012316","OMIM:609628","orphanet:77297","UMLS:C1864997","MESH:C537839","MEDDRA:10072223","NCIT:C119058","SNOMEDCT:703540008","medgen:351273","icd11.foundation:1316564349"],"information_content":100.0}
{"id":"MONDO:0012320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine, familial hemiplegic, 3","equivalent_identifiers":["MONDO:0012320","DOID:0111183","OMIM:609634","UMLS:C1864987","MESH:C566500","medgen:400655"],"information_content":100.0}
{"id":"MONDO:0012321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 10","equivalent_identifiers":["MONDO:0012321","DOID:0110043","OMIM:609636","UMLS:C1864828","MESH:C566465","medgen:351228"],"information_content":100.0}
{"id":"MONDO:0012322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 5","equivalent_identifiers":["MONDO:0012322","DOID:0110878","OMIM:609637","UMLS:C1864827","MESH:C566464","NCIT:C75460","medgen:355304"],"information_content":100.0}
{"id":"MONDO:0012323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal acantholytic epidermolysis bullosa","equivalent_identifiers":["MONDO:0012323","OMIM:609638","orphanet:158687","UMLS:C1864826","MESH:C535493","SNOMEDCT:1230026002","medgen:400622"],"information_content":100.0}
{"id":"MONDO:0012324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Frias syndrome","equivalent_identifiers":["MONDO:0012324","OMIM:609640","orphanet:264200","UMLS:C1864825","MESH:C535639","SNOMEDCT:771439009","medgen:400621"],"information_content":100.0}
{"id":"MONDO:0012326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 42","equivalent_identifiers":["MONDO:0012326","DOID:0110500","OMIM:609646","UMLS:C1864818","MESH:C566460","medgen:351225"],"information_content":100.0}
{"id":"MONDO:0012327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 46","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012327","DOID:0110503","OMIM:609647","UMLS:C1864815","MESH:C566459","medgen:355302"],"information_content":100.0}
{"id":"MONDO:0012328","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pilar cyst","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0012328","OMIM:609649","UMLS:C0086809","UMLS:C1864801","UMLS:C2266788","MESH:C566458","MEDDRA:10035034","MEDDRA:10047907","MEDDRA:10078021","SNOMEDCT:254677004","SNOMEDCT:419093005","medgen:389216","icd11.foundation:150930710","HP:0025246"],"information_content":100.0}
{"id":"MONDO:0012329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature and Facioauriculothoracic malformations","equivalent_identifiers":["MONDO:0012329","OMIM:609654","UMLS:C1864791","MESH:C566457","medgen:351216"],"information_content":100.0}
{"id":"MONDO:0012330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"talo-patello-scaphoid osteolysis","equivalent_identifiers":["MONDO:0012330","OMIM:609655","orphanet:50809","UMLS:C1864784","MESH:C536894","medgen:400611","icd11.foundation:1276091756"],"information_content":100.0}
{"id":"MONDO:0012333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 53","equivalent_identifiers":["MONDO:0012333","DOID:0110509","OMIM:609706","UMLS:C1864746","MESH:C566453","medgen:400602"],"information_content":100.0}
{"id":"MONDO:0012334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 29","equivalent_identifiers":["MONDO:0012334","DOID:0110780","OMIM:609727","orphanet:101009","UMLS:C1857855","MESH:C536863","SNOMEDCT:733029008","medgen:346682"],"information_content":100.0}
{"id":"MONDO:0012335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity due to pro-opiomelanocortin deficiency","equivalent_identifiers":["MONDO:0012335","OMIM:609734","orphanet:71526","UMLS:C1857854","MESH:C565726","MEDDRA:10083937","NCIT:C120393","SNOMEDCT:702949005","medgen:341863","icd11.foundation:530374033"],"information_content":100.0}
{"id":"MONDO:0012336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 22 multiple types","equivalent_identifiers":["MONDO:0012336","DOID:0110268","OMIM:609741","UMLS:C1857853","MESH:C565725","medgen:341862"],"information_content":100.0}
{"id":"MONDO:0012341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"celiac disease, susceptibility to, 3","equivalent_identifiers":["MONDO:0012341","OMIM:609755","UMLS:C1857845","medgen:347563"],"information_content":100.0}
{"id":"MONDO:0012342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"7q11.23 microduplication syndrome","equivalent_identifiers":["MONDO:0012342","DOID:0080926","OMIM:609757","orphanet:96121","UMLS:C1857844","UMLS:C3149767","UMLS:C4512054","MESH:C565723","NCIT:C165597","SNOMEDCT:726707004","medgen:347562"],"information_content":95.4}
{"id":"MONDO:0012345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acral peeling skin syndrome","equivalent_identifiers":["MONDO:0012345","DOID:0070521","OMIM:609796","orphanet:263534","UMLS:C1853354","MESH:C536316","MEDDRA:10078538","SNOMEDCT:709416009","medgen:342862"],"information_content":100.0}
{"id":"MONDO:0012346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized epilepsy with febrile seizures plus, type 4","equivalent_identifiers":["MONDO:0012346","DOID:0111293","OMIM:609800","UMLS:C1853345","MESH:C565227","medgen:342858"],"information_content":100.0}
{"id":"MONDO:0012347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hamartoma, Precalcaneal congenital fibrolipomatous","equivalent_identifiers":["MONDO:0012347","OMIM:609808","UMLS:C1853298","MESH:C565226","medgen:342846"],"information_content":100.0}
{"id":"MONDO:0012348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 8","equivalent_identifiers":["MONDO:0012348","DOID:0111105","OMIM:609812","UMLS:C1853297","MESH:C565225","SNOMEDCT:609575003","medgen:342845"],"information_content":100.0}
{"id":"MONDO:0012349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocostal dysostosis 3, autosomal recessive","equivalent_identifiers":["MONDO:0012349","DOID:0112361","OMIM:609813","UMLS:C1853296","medgen:377871"],"information_content":100.0}
{"id":"MONDO:0012350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement factor H deficiency","equivalent_identifiers":["MONDO:0012350","OMIM:609814","UMLS:C0398777","MESH:C562875","SNOMEDCT:234622003","medgen:96024"],"information_content":95.4}
{"id":"MONDO:0012353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrocytosis, familial, 3","equivalent_identifiers":["MONDO:0012353","DOID:0080338","OMIM:609820","UMLS:C1853286","MESH:C565221","medgen:377868"],"information_content":100.0}
{"id":"MONDO:0012354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 8","equivalent_identifiers":["MONDO:0012354","DOID:0060692","OMIM:609821","orphanet:36355","UMLS:C1853278","UMLS:C4510945","MESH:C565220","SNOMEDCT:725291001","medgen:344008","ICD10:D69.8"],"information_content":100.0}
{"id":"MONDO:0012355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 28","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012355","DOID:0110486","OMIM:609823","UMLS:C1853276","MESH:C565218","NCIT:C129023","medgen:342839"],"information_content":100.0}
{"id":"MONDO:0012359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to partial RAG1 deficiency","equivalent_identifiers":["MONDO:0012359","OMIM:609889","orphanet:231154","UMLS:C1835931","UMLS:C4510944","MESH:C563691","SNOMEDCT:725290000","medgen:372161"],"information_content":100.0}
{"id":"MONDO:0012360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital nongoitrous hypothyroidism 3","equivalent_identifiers":["MONDO:0012360","DOID:0070127","OMIM:609893","UMLS:C2940785","MESH:C567935","medgen:424853"],"information_content":100.0}
{"id":"MONDO:0012362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1P","equivalent_identifiers":["MONDO:0012362","DOID:0110439","OMIM:609909","UMLS:C1835928","MESH:C563690","NCIT:C173625","medgen:322782"],"information_content":100.0}
{"id":"MONDO:0012363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 32","equivalent_identifiers":["MONDO:0012363","DOID:0110355","OMIM:609913","UMLS:C1835927","MESH:C563689","medgen:322781"],"information_content":100.0}
{"id":"MONDO:0012364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1Q","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0012364","DOID:0110442","OMIM:609915","UMLS:C1835926","MESH:C563688","medgen:332088"],"information_content":100.0}
{"id":"MONDO:0012367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 31","equivalent_identifiers":["MONDO:0012367","DOID:0110391","OMIM:609923","UMLS:C1835923","MESH:C563685","medgen:372159"],"information_content":100.0}
{"id":"MONDO:0012368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aminoacylase 1 deficiency","equivalent_identifiers":["MONDO:0012368","OMIM:609924","orphanet:137754","EFO:1001981","UMLS:C1835922","MESH:C538246","SNOMEDCT:709282004","medgen:324393"],"information_content":100.0}
{"id":"MONDO:0012369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic lupus erythematosus, susceptibility to, 6","equivalent_identifiers":["MONDO:0012369","OMIM:609939","UMLS:C1835919","medgen:332086"],"information_content":100.0}
{"id":"MONDO:0012370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 51","equivalent_identifiers":["MONDO:0012370","DOID:0110508","OMIM:609941","UMLS:C1864968","MESH:C538202","medgen:355880"],"information_content":100.0}
{"id":"MONDO:0012371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 3","equivalent_identifiers":["MONDO:0012371","DOID:0060581","OMIM:609942","UMLS:C1860991","MESH:C537847","NCIT:C176931","medgen:349931"],"information_content":100.0}
{"id":"MONDO:0012373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features","equivalent_identifiers":["MONDO:0012373","OMIM:609944","UMLS:C1864966","MESH:C536182","medgen:355878"],"information_content":100.0}
{"id":"MONDO:0012374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachyphalangy, polydactyly, and tibial aplasia/hypoplasia","equivalent_identifiers":["MONDO:0012374","OMIM:609945","UMLS:C1864965","MESH:C537100","medgen:355340"],"information_content":100.0}
{"id":"MONDO:0012375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 47","equivalent_identifiers":["MONDO:0012375","DOID:0110504","OMIM:609946","UMLS:C1864964","MESH:C566498","medgen:355339"],"information_content":100.0}
{"id":"MONDO:0012376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 55","equivalent_identifiers":["MONDO:0012376","DOID:0110510","OMIM:609952","UMLS:C1864962","MESH:C538203","medgen:355338"],"information_content":100.0}
{"id":"MONDO:0012380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 53","equivalent_identifiers":["MONDO:0012380","DOID:0110579","OMIM:609965","UMLS:C1864957","MESH:C566495","medgen:355336"],"information_content":100.0}
{"id":"MONDO:0012381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinism due to INSR deficiency","equivalent_identifiers":["MONDO:0012381","DOID:0070220","OMIM:609968","orphanet:263458","UMLS:C1864952","UMLS:C4303474","MESH:C566494","SNOMEDCT:721235003","medgen:355335"],"information_content":100.0}
{"id":"MONDO:0012382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinemic hypoglycemia, familial, 4","equivalent_identifiers":["MONDO:0012382","DOID:0070215","OMIM:609975","orphanet:71212","UMLS:C1864948","UMLS:C4303473","MESH:C566493","SNOMEDCT:721236002","medgen:400646"],"information_content":100.0}
{"id":"MONDO:0012383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency","equivalent_identifiers":["MONDO:0012383","DOID:0111967","OMIM:609981","orphanet:75391","UMLS:C1864947","UMLS:C4518328","MESH:C566492","NCIT:C123729","SNOMEDCT:724275005","medgen:351256"],"information_content":100.0}
{"id":"MONDO:0012387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteosclerosis-ichthyosis-premature ovarian failure syndrome","equivalent_identifiers":["MONDO:0012387","OMIM:609993","orphanet:75325","UMLS:C1864942","UMLS:C4302815","MESH:C536064","SNOMEDCT:722114007","medgen:355875"],"information_content":100.0}
{"id":"MONDO:0012391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 8 northern epilepsy variant","equivalent_identifiers":["MONDO:0012391","DOID:0110724","OMIM:610003","orphanet:1947","orphanet:530298","UMLS:C1864923","medgen:355328"],"information_content":100.0}
{"id":"MONDO:0012392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2-methylbutyryl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0012392","OMIM:610006","orphanet:79157","UMLS:C1864912","MESH:C566487","NCIT:C98863","SNOMEDCT:1306751004","SNOMEDCT:444838008","medgen:355324","HP:0020147"],"information_content":100.0}
{"id":"MONDO:0012393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital brain dysgenesis due to glutamine synthetase deficiency","equivalent_identifiers":["MONDO:0012393","DOID:0070544","OMIM:610015","orphanet:71278","UMLS:C1864910","MESH:C536832","medgen:400638","icd11.foundation:238162640"],"information_content":100.0}
{"id":"MONDO:0012394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple synostoses syndrome 2","equivalent_identifiers":["MONDO:0012394","DOID:0081318","OMIM:610017","UMLS:C1832708","MESH:C537380","medgen:331348"],"information_content":100.0}
{"id":"MONDO:0012395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 18","equivalent_identifiers":["MONDO:0012395","DOID:0110238","OMIM:610019","UMLS:C1864908","MESH:C535337","medgen:351249"],"information_content":100.0}
{"id":"MONDO:0012396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exercise-induced hyperinsulinism","equivalent_identifiers":["MONDO:0012396","DOID:0070214","OMIM:610021","orphanet:165991","UMLS:C1864902","MESH:C538376","NCIT:C131839","SNOMEDCT:715830008","medgen:351246","icd11.foundation:999935139"],"information_content":100.0}
{"id":"MONDO:0012397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly, coloboma, and anterior segment dysgenesis","equivalent_identifiers":["MONDO:0012397","OMIM:610023","UMLS:C1864901","MESH:C566484","medgen:355321"],"information_content":100.0}
{"id":"MONDO:0012398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal cone dystrophy 3A","equivalent_identifiers":["MONDO:0012398","DOID:0081025","OMIM:610024","UMLS:C1864900","MESH:C566483","medgen:355864"],"information_content":100.0}
{"id":"MONDO:0012399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex cortical dysplasia with other brain malformations 7","equivalent_identifiers":["MONDO:0012399","DOID:0090132","OMIM:610031","orphanet:300573","UMLS:C3552236","medgen:765150"],"information_content":100.0}
{"id":"MONDO:0012400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortical dysplasia-focal epilepsy syndrome","equivalent_identifiers":["MONDO:0012400","DOID:0090130","OMIM:610042","orphanet:163681","UMLS:C2750246","UMLS:C4552043","MESH:C567657","NCIT:C133743","medgen:413258","ICD10:Q04.8"],"information_content":100.0}
{"id":"MONDO:0012401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stromal corneal dystrophy","equivalent_identifiers":["MONDO:0012401","DOID:0060445","OMIM:610048","orphanet:101068","UMLS:C1864738","MESH:C566452","SNOMEDCT:702359002","medgen:400601","icd11.foundation:1796933876","ICD10:H18.5"],"information_content":100.0}
{"id":"MONDO:0012407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyridoxal phosphate-responsive seizures","equivalent_identifiers":["MONDO:0012407","DOID:0111329","OMIM:610090","orphanet:79096","UMLS:C1864723","MESH:C566449","SNOMEDCT:724576005","medgen:350498","icd11.foundation:1632334328","icd11.foundation:604024463"],"information_content":100.0}
{"id":"MONDO:0012408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with coloboma 3","equivalent_identifiers":["MONDO:0012408","OMIM:610092","UMLS:C1864721","UMLS:C1864722","MESH:C566447","MESH:C566448","medgen:400598"],"information_content":100.0}
{"id":"MONDO:0012409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia 2","equivalent_identifiers":["MONDO:0012409","DOID:0060839","OMIM:610093","UMLS:C1864720","MESH:C566446","medgen:351204"],"information_content":95.4}
{"id":"MONDO:0012410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Finnish upper limb-onset distal myopathy","equivalent_identifiers":["MONDO:0012410","DOID:0111189","OMIM:610099","orphanet:399086","UMLS:C1864706","MESH:C566445","SNOMEDCT:763718009","medgen:400595"],"information_content":100.0}
{"id":"MONDO:0012411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"giant axonal neuropathy 2","equivalent_identifiers":["MONDO:0012411","DOID:0090069","OMIM:610100","orphanet:401964","UMLS:C1864695","MESH:C566444","medgen:400593"],"information_content":100.0}
{"id":"MONDO:0012412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement component 7 deficiency","equivalent_identifiers":["MONDO:0012412","DOID:0060300","OMIM:610102","UMLS:C1864694","MESH:C566443","medgen:355270"],"information_content":100.0}
{"id":"MONDO:0012413","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic microphthalmia type 5","equivalent_identifiers":["MONDO:0012413","DOID:0111806","OMIM:610125","orphanet:178364","UMLS:C1864690","UMLS:C4225436","MESH:C566441","SNOMEDCT:718761007","medgen:350491"],"information_content":100.0}
{"id":"MONDO:0012414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 10","equivalent_identifiers":["MONDO:0012414","DOID:0110725","OMIM:610127","orphanet:228337","UMLS:C1864669","UMLS:C4303804","MESH:C566438","SNOMEDCT:720831008","medgen:350481"],"information_content":100.0}
{"id":"MONDO:0012415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4","equivalent_identifiers":["MONDO:0012415","DOID:0111525","OMIM:610131","UMLS:C1864668","MESH:C566437","medgen:350480"],"information_content":100.0}
{"id":"MONDO:0012417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart-hand syndrome, Slovenian type","equivalent_identifiers":["MONDO:0012417","OMIM:610140","orphanet:168796","UMLS:C1857829","MESH:C535852","SNOMEDCT:721014007","medgen:341859","icd11.foundation:1814304618"],"information_content":100.0}
{"id":"MONDO:0012418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 62","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012418","DOID:0110514","OMIM:610143","UMLS:C1857820","MESH:C565719","medgen:387916"],"information_content":100.0}
{"id":"MONDO:0012419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 7","equivalent_identifiers":["MONDO:0012419","DOID:0110019","OMIM:610149","UMLS:C1857813","UMLS:C1857814","UMLS:C1857815","MESH:C565718","medgen:347554"],"information_content":100.0}
{"id":"MONDO:0012420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 49","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012420","DOID:0110506","OMIM:610153","UMLS:C1857811","MESH:C565717","NCIT:C129024","medgen:346670"],"information_content":100.0}
{"id":"MONDO:0012421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 44","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012421","DOID:0110501","OMIM:610154","UMLS:C1857809","MESH:C565716","medgen:341854"],"information_content":100.0}
{"id":"MONDO:0012423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MORM syndrome","equivalent_identifiers":["MONDO:0012423","OMIM:610156","orphanet:75858","UMLS:C1857802","MESH:C536984","SNOMEDCT:715628009","medgen:341851","icd11.foundation:1027545274"],"information_content":100.0}
{"id":"MONDO:0012425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal dystrophy, fuchs endothelial, 2","equivalent_identifiers":["MONDO:0012425","OMIM:610158","UMLS:C1857800","MESH:C535479","medgen:347552"],"information_content":100.0}
{"id":"MONDO:0012426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 25","equivalent_identifiers":["MONDO:0012426","DOID:0060007","DOID:0111942","OMIM:610163","UMLS:C1857798","MESH:C565712","medgen:346666"],"information_content":100.0}
{"id":"MONDO:0012427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Loeys-Dietz syndrome 2","equivalent_identifiers":["MONDO:0012427","DOID:0070234","OMIM:610168","UMLS:C2674574","UMLS:C2931058","MESH:C537783","NCIT:C114768","medgen:382398"],"information_content":100.0}
{"id":"MONDO:0012429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi-Goutieres syndrome 2","equivalent_identifiers":["MONDO:0012429","OMIM:610181","UMLS:C3489724","NCIT:C165673","medgen:483677"],"information_content":100.0}
{"id":"MONDO:0012430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2","equivalent_identifiers":["MONDO:0012430","DOID:0070557","OMIM:610185","UMLS:C2750234","MESH:C567656","medgen:412914"],"information_content":100.0}
{"id":"MONDO:0012431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diaphragmatic hernia 3","equivalent_identifiers":["MONDO:0012431","OMIM:610187","UMLS:C1857781","MESH:C565710","medgen:347546"],"information_content":100.0}
{"id":"MONDO:0012432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 5","equivalent_identifiers":["MONDO:0012432","DOID:0111000","OMIM:610188","UMLS:C1857780","MESH:C537688","medgen:347545"],"information_content":100.0}
{"id":"MONDO:0012433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Loken syndrome 6","equivalent_identifiers":["MONDO:0012433","OMIM:610189","UMLS:C1857779","MESH:C565708","medgen:387907"],"information_content":100.0}
{"id":"MONDO:0012434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 10","equivalent_identifiers":["MONDO:0012434","DOID:0110081","OMIM:610193","UMLS:C1857777","MESH:C565707","NCIT:C177248","medgen:347543"],"information_content":100.0}
{"id":"MONDO:0012435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria type 5","equivalent_identifiers":["MONDO:0012435","DOID:0110000","OMIM:610198","orphanet:66634","UMLS:C1857776","MESH:C565706","NCIT:C173146","SNOMEDCT:711412004","medgen:347542","icd11.foundation:422277813"],"information_content":100.0}
{"id":"MONDO:0012436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal diabetes mellitus with congenital hypothyroidism","equivalent_identifiers":["MONDO:0012436","DOID:0060638","OMIM:610199","orphanet:79118","UMLS:C1857775","MESH:C565705","medgen:347541"],"information_content":100.0}
{"id":"MONDO:0012437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 21 multiple types","equivalent_identifiers":["MONDO:0012437","DOID:0110256","OMIM:610202","UMLS:C1857768","MESH:C565703","medgen:347538"],"information_content":100.0}
{"id":"MONDO:0012438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 5","equivalent_identifiers":["MONDO:0012438","DOID:0060274","OMIM:610204","UMLS:C1857762","MESH:C537745","SNOMEDCT:718607001","medgen:341845","icd11.foundation:1962551792"],"information_content":100.0}
{"id":"MONDO:0012439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alagille syndrome due to a NOTCH2 point mutation","equivalent_identifiers":["MONDO:0012439","OMIM:610205","orphanet:261629","UMLS:C1857761","medgen:341844"],"information_content":100.0}
{"id":"MONDO:0012440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine with or without aura, susceptibility to, 10","equivalent_identifiers":["MONDO:0012440","OMIM:610208","UMLS:C1857752","medgen:341839"],"information_content":100.0}
{"id":"MONDO:0012441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine with or without aura, susceptibility to, 11","equivalent_identifiers":["MONDO:0012441","OMIM:610209","UMLS:C1857751","medgen:387900"],"information_content":100.0}
{"id":"MONDO:0012442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 66","equivalent_identifiers":["MONDO:0012442","DOID:0110517","OMIM:610212","UMLS:C1857750","MESH:C565701","medgen:346659"],"information_content":100.0}
{"id":"MONDO:0012444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Karak Syndrome","equivalent_identifiers":["MONDO:0012444","DOID:0110736","OMIM:610217","UMLS:C1857747","UMLS:C2750220","MESH:C548029","MESH:C565699","medgen:346658"],"information_content":100.0}
{"id":"MONDO:0012445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 59","equivalent_identifiers":["MONDO:0012445","DOID:0110511","OMIM:610220","UMLS:C1857744","MESH:C565698","medgen:387899"],"information_content":100.0}
{"id":"MONDO:0012446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seborrhea-like dermatitis with psoriasiform elements","equivalent_identifiers":["MONDO:0012446","OMIM:610227","orphanet:168606","UMLS:C1853258","MESH:C565217","SNOMEDCT:782910009","medgen:342832"],"information_content":100.0}
{"id":"MONDO:0012448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 33","equivalent_identifiers":["MONDO:0012448","DOID:0110784","OMIM:610244","UMLS:C1853251","MESH:C565214","medgen:339943"],"information_content":100.0}
{"id":"MONDO:0012449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 23","equivalent_identifiers":["MONDO:0012449","DOID:0050973","OMIM:610245","orphanet:101108","UMLS:C1853250","MESH:C537201","SNOMEDCT:718772002","medgen:339942","icd11.foundation:1340267869"],"information_content":100.0}
{"id":"MONDO:0012450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 28","equivalent_identifiers":["MONDO:0012450","DOID:0050977","OMIM:610246","orphanet:101109","UMLS:C1853249","MESH:C537205","SNOMEDCT:715824008","medgen:339941","icd11.foundation:2020736035"],"information_content":100.0}
{"id":"MONDO:0012451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophagitis, eosinophilic, 1","equivalent_identifiers":["MONDO:0012451","OMIM:610247","UMLS:C4551589","medgen:1634032"],"information_content":100.0}
{"id":"MONDO:0012452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 65","equivalent_identifiers":["MONDO:0012452","DOID:0110516","OMIM:610248","UMLS:C1853248","MESH:C565211","medgen:344004"],"information_content":100.0}
{"id":"MONDO:0012453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 31","equivalent_identifiers":["MONDO:0012453","DOID:0110782","OMIM:610250","orphanet:101011","UMLS:C1853247","MESH:C565210","NCIT:C189921","SNOMEDCT:763068005","medgen:377858"],"information_content":100.0}
{"id":"MONDO:0012454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alcohol sensitivity, acute","equivalent_identifiers":["MONDO:0012454","OMIM:100650","OMIM:610251","UMLS:C2608086","UMLS:C2674838","UMLS:C2676227","UMLS:C2751719","UMLS:C3149226","medgen:390639"],"information_content":100.0}
{"id":"MONDO:0012455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kleefstra syndrome","equivalent_identifiers":["MONDO:0012455","DOID:0080597","OMIM.PS:610253","orphanet:261494","UMLS:C4551771","MEDDRA:10079365","medgen:1684615","icd11.foundation:1997337437"],"information_content":89.4}
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{"id":"MONDO:0012460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 67","equivalent_identifiers":["MONDO:0012460","DOID:0110518","OMIM:610265","UMLS:C1853223","MESH:C565207","medgen:343997"],"information_content":100.0}
{"id":"MONDO:0012462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive frontotemporal pachygyria","equivalent_identifiers":["MONDO:0012462","OMIM:610279","orphanet:329329","UMLS:C1853215","MESH:C538092","SNOMEDCT:773394007","medgen:343995"],"information_content":100.0}
{"id":"MONDO:0012463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 35","equivalent_identifiers":["MONDO:0012463","DOID:0110357","OMIM:610282","UMLS:C1853214","MESH:C565206","medgen:339931"],"information_content":100.0}
{"id":"MONDO:0012464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 10","equivalent_identifiers":["MONDO:0012464","DOID:0111017","OMIM:610283","UMLS:C1846529","MESH:C564597","medgen:337598"],"information_content":100.0}
{"id":"MONDO:0012465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","equivalent_identifiers":["MONDO:0012465","OMIM:610293","orphanet:83639","UMLS:C1853205","UMLS:C4510605","UMLS:C5201145","MESH:C537277","SNOMEDCT:724344004","medgen:1684821","icd11.foundation:1811042875"],"information_content":100.0}
{"id":"MONDO:0012466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 13, autosomal dominant, susceptibility to","equivalent_identifiers":["MONDO:0012466","OMIM:610297","UMLS:C1853202","UMLS:C3496588","MESH:C565204","medgen:343992"],"information_content":100.0}
{"id":"MONDO:0012467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cold-induced sweating syndrome 2","equivalent_identifiers":["MONDO:0012467","DOID:0080330","OMIM:610313","UMLS:C1853198","MESH:C564791","NCIT:C173148","medgen:342816"],"information_content":100.0}
{"id":"MONDO:0012471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi-Goutieres syndrome 3","equivalent_identifiers":["MONDO:0012471","OMIM:610329","UMLS:C1835916","MESH:C563683","medgen:324389"],"information_content":100.0}
{"id":"MONDO:0012472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi-Goutieres syndrome 4","equivalent_identifiers":["MONDO:0012472","OMIM:610333","UMLS:C1835912","MESH:C563681","medgen:332084"],"information_content":100.0}
{"id":"MONDO:0012473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"right pulmonary artery, anomalous origin of, familial","equivalent_identifiers":["MONDO:0012473","OMIM:610338","UMLS:C1835910","MESH:C535681","medgen:322780"],"information_content":100.0}
{"id":"MONDO:0012474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nocturnal frontal lobe epilepsy 4","equivalent_identifiers":["MONDO:0012474","DOID:0060685","DOID:0081119","OMIM:610353","UMLS:C1835905","UMLS:C4692954","MESH:C563679","medgen:332082"],"information_content":100.0}
{"id":"MONDO:0012475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone dystrophy with supernormal rod response","equivalent_identifiers":["MONDO:0012475","DOID:0081022","OMIM:610356","orphanet:209932","UMLS:C1835897","MESH:C563678","NCIT:C192089","SNOMEDCT:719455002","medgen:332081","icd11.foundation:545671557"],"information_content":100.0}
{"id":"MONDO:0012476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 30","equivalent_identifiers":["MONDO:0012476","DOID:0110781","OMIM:610357","orphanet:101010","UMLS:C1835896","UMLS:C5235139","MESH:C563677","NCIT:C170435","SNOMEDCT:763377006","medgen:1710020"],"information_content":100.0}
{"id":"MONDO:0012477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 33","equivalent_identifiers":["MONDO:0012477","DOID:0110366","OMIM:610359","UMLS:C1835895","MESH:C563676","medgen:332080"],"information_content":100.0}
{"id":"MONDO:0012479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital malabsorptive diarrhea 4","equivalent_identifiers":["MONDO:0012479","DOID:0060779","OMIM:610370","orphanet:83620","UMLS:C1835888","MESH:C563673","SNOMEDCT:722392003","medgen:372151"],"information_content":100.0}
{"id":"MONDO:0012480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus, transient neonatal, 2","equivalent_identifiers":["MONDO:0012480","OMIM:610374","UMLS:C1835887","MESH:C563672","SNOMEDCT:609580007","medgen:372150"],"information_content":100.0}
{"id":"MONDO:0012481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mevalonic aciduria","equivalent_identifiers":["MONDO:0012481","DOID:0050452","OMIM:610377","orphanet:29","UMLS:C1959626","MEDDRA:10072219","NCIT:C84890","SNOMEDCT:718558008","medgen:368373","icd11.foundation:572875152","ICD10:M04.1"],"information_content":100.0}
{"id":"MONDO:0012482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"West Nile virus, susceptibility to","equivalent_identifiers":["MONDO:0012482","OMIM:610379","UMLS:C1835867","medgen:372145"],"information_content":100.0}
{"id":"MONDO:0012483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 11","equivalent_identifiers":["MONDO:0012483","DOID:0111018","OMIM:610381","UMLS:C1835865","MESH:C563671","medgen:322767"],"information_content":100.0}
{"id":"MONDO:0012484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prosopagnosia, hereditary","equivalent_identifiers":["MONDO:0012484","OMIM:610382","UMLS:C0751842","UMLS:C2931455","MESH:C537242","medgen:419809"],"information_content":100.0}
{"id":"MONDO:0012485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 68","equivalent_identifiers":["MONDO:0012485","DOID:0110519","OMIM:610419","UMLS:C1835854","MESH:C563669","medgen:324374"],"information_content":100.0}
{"id":"MONDO:0012486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preauricular tag, isolated, autosomal dominant, 1","equivalent_identifiers":["MONDO:0012486","OMIM:610420","UMLS:C1968893","MESH:C566904","medgen:369878"],"information_content":100.0}
{"id":"MONDO:0012487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia-intellectual disability syndrome 2","equivalent_identifiers":["MONDO:0012487","DOID:0080629","OMIM:610422","UMLS:C1835852","MESH:C563668","medgen:372142"],"information_content":100.0}
{"id":"MONDO:0012488","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatitis B virus, susceptibility to","equivalent_identifiers":["MONDO:0012488","OMIM:610424","UMLS:C1864880","UMLS:C3552303","medgen:400632"],"information_content":100.0}
{"id":"MONDO:0012489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 23","equivalent_identifiers":["MONDO:0012489","DOID:0110271","OMIM:610425","UMLS:C3808012","medgen:814342"],"information_content":100.0}
{"id":"MONDO:0012490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod synaptic disorder, congenital nonprogressive","equivalent_identifiers":["MONDO:0012490","OMIM:610427","UMLS:C4041558","medgen:874422"],"information_content":100.0}
{"id":"MONDO:0012494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular microlithiasis","equivalent_identifiers":["MONDO:0012494","OMIM:610441","UMLS:C1864873","MESH:C566478","MEDDRA:10067829","SNOMEDCT:117261000119108","medgen:355854","HP:0012215"],"information_content":100.0}
{"id":"MONDO:0012495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Genevieve type","equivalent_identifiers":["MONDO:0012495","DOID:0080576","OMIM:610442","orphanet:168454","UMLS:C1864872","MESH:C535785","SNOMEDCT:773303005","medgen:355314","icd11.foundation:1383217537"],"information_content":100.0}
{"id":"MONDO:0012496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Koolen-de Vries syndrome","equivalent_identifiers":["MONDO:0012496","OMIM:610443","orphanet:96169","UMLS:C1864871","MEDDRA:10091195","medgen:355853"],"information_content":92.8}
{"id":"MONDO:0012497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness autosomal dominant 3","equivalent_identifiers":["MONDO:0012497","DOID:0110715","OMIM:610444","UMLS:C1864870","MESH:C566475","medgen:355313"],"information_content":100.0}
{"id":"MONDO:0012498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness autosomal dominant 1","equivalent_identifiers":["MONDO:0012498","DOID:0110862","OMIM:610445","UMLS:C1864869","MESH:C566474","medgen:355852"],"information_content":100.0}
{"id":"MONDO:0012499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Buruli ulcer, susceptibility to","equivalent_identifiers":["MONDO:0012499","OMIM:610446","UMLS:C1864868","medgen:355851"],"information_content":100.0}
{"id":"MONDO:0012500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chilblain lupus 1","equivalent_identifiers":["MONDO:0012500","OMIM:610448","UMLS:C0024145","MESH:C535924","medgen:9822"],"information_content":100.0}
{"id":"MONDO:0012502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"normophosphatemic familial tumoral calcinosis","equivalent_identifiers":["MONDO:0012502","DOID:0080170","OMIM:610455","orphanet:306658","UMLS:C1864861","MESH:C566473","SNOMEDCT:1162852008","medgen:355311"],"information_content":100.0}
{"id":"MONDO:0012503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thiopurine S-methyltransferase deficiency","equivalent_identifiers":["MONDO:0012503","DOID:0061004","DOID:0080172","OMIM:610460","UMLS:C0342801","MESH:C536512","NCIT:C4389","SNOMEDCT:238012003","medgen:83352","icd11.foundation:1916778396"],"information_content":84.2}
{"id":"MONDO:0012504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CATSHL syndrome","equivalent_identifiers":["MONDO:0012504","DOID:0111160","OMIM:610474","orphanet:85164","UMLS:C1864852","MESH:C537975","SNOMEDCT:720601000","medgen:355844"],"information_content":100.0}
{"id":"MONDO:0012505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pigmented nodular adrenocortical disease, primary, 2","equivalent_identifiers":["MONDO:0012505","DOID:0070547","OMIM:610475","UMLS:C1864851","MESH:C566472","medgen:355843"],"information_content":100.0}
{"id":"MONDO:0012506","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 11","equivalent_identifiers":["MONDO:0012506","DOID:0110082","OMIM:610476","UMLS:C1864850","UMLS:C4310824","MESH:C566471","medgen:351237"],"information_content":100.0}
{"id":"MONDO:0012507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal cone dystrophy 4","equivalent_identifiers":["MONDO:0012507","DOID:0081023","OMIM:610478","UMLS:C1864849","MESH:C566470","medgen:355308"],"information_content":100.0}
{"id":"MONDO:0012508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome","equivalent_identifiers":["MONDO:0012508","OMIM:610483","orphanet:83617","UMLS:C1864848","UMLS:C4302680","MESH:C538055","SNOMEDCT:722281001","medgen:351236"],"information_content":100.0}
{"id":"MONDO:0012509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pigmented nodular adrenocortical disease, primary, 1","equivalent_identifiers":["MONDO:0012509","DOID:0070546","OMIM:610489","UMLS:C1864846","MESH:C566469","medgen:400627"],"information_content":100.0}
{"id":"MONDO:0012510","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 2","equivalent_identifiers":["MONDO:0012510","DOID:0111483","OMIM:610498","orphanet:254920","UMLS:C1864843","MESH:C566468","SNOMEDCT:764943000","medgen:400626"],"information_content":100.0}
{"id":"MONDO:0012511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preterm premature rupture of the membranes","inheritance":"Polygenic inheritance","equivalent_identifiers":["MONDO:0012511","DOID:0111144","OMIM:610504","UMLS:C0729264","MESH:C563032","MEDDRA:10073024","NCIT:C92862","SNOMEDCT:312974005","medgen:147582","HP:6000310"],"information_content":100.0}
{"id":"MONDO:0012512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3","equivalent_identifiers":["MONDO:0012512","DOID:0111486","OMIM:610505","orphanet:168566","UMLS:C1864840","UMLS:C4303760","MESH:C566467","SNOMEDCT:720951008","medgen:355842"],"information_content":100.0}
{"id":"MONDO:0012513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 7","equivalent_identifiers":["MONDO:0012513","DOID:0111106","OMIM:610508","UMLS:C1864839","MESH:C566466","SNOMEDCT:609574004","medgen:351232"],"information_content":100.0}
{"id":"MONDO:0012514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelinating leukodystrophy 5","equivalent_identifiers":["MONDO:0012514","DOID:0060793","OMIM:610532","orphanet:85163","UMLS:C1864663","MESH:C567166","SNOMEDCT:702379005","medgen:501134","ICD10:G37.8"],"information_content":100.0}
{"id":"MONDO:0012515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma 1, open angle, M","equivalent_identifiers":["MONDO:0012515","OMIM:610535","UMLS:C1864653","MESH:C566436","medgen:400584"],"information_content":100.0}
{"id":"MONDO:0012516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibulofacial dysostosis-microcephaly syndrome","equivalent_identifiers":["MONDO:0012516","DOID:0080196","OMIM:610536","orphanet:79113","UMLS:C1864652","MESH:C537405","SNOMEDCT:711543008","medgen:355264"],"information_content":100.0}
{"id":"MONDO:0012517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gaucher disease due to saposin C deficiency","equivalent_identifiers":["MONDO:0012517","DOID:0110961","OMIM:610539","orphanet:309252","UMLS:C1864651","MESH:C566435","SNOMEDCT:1156792000","medgen:350479"],"information_content":100.0}
{"id":"MONDO:0012518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 12","equivalent_identifiers":["MONDO:0012518","DOID:0110660","OMIM:610542","UMLS:C3552335","NCIT:C168997","medgen:765249"],"information_content":100.0}
{"id":"MONDO:0012519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion","equivalent_identifiers":["MONDO:0012519","OMIM:610543","orphanet:353281","UMLS:C1864648","medgen:350477"],"information_content":100.0}
{"id":"MONDO:0012520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"insulin-resistance syndrome type A","equivalent_identifiers":["MONDO:0012520","OMIM:610549","orphanet:2297","EFO:1001503","UMLS:C0271690","UMLS:C0342278","UMLS:C0342336","MESH:C562710","NCIT:C131836","SNOMEDCT:237606005","SNOMEDCT:237651005","SNOMEDCT:9859006","medgen:501111","icd11.foundation:343459534"],"information_content":100.0}
{"id":"MONDO:0012521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"herpes simplex encephalitis","equivalent_identifiers":["MONDO:0012521","orphanet:1930","UMLS:C0276226","MESH:D020803","MEDDRA:10014590","MEDDRA:10019953","NCIT:C84762","SNOMEDCT:428638009","medgen:75794","icd11.foundation:320069644","HP:0012302"],"information_content":100.0}
{"id":"MONDO:0012522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus, transient neonatal, 3","equivalent_identifiers":["MONDO:0012522","OMIM:610582","UMLS:C1864623","MESH:C566432","SNOMEDCT:609581006","medgen:351177"],"information_content":100.0}
{"id":"MONDO:0012523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 36","equivalent_identifiers":["MONDO:0012523","DOID:0110405","OMIM:610599","UMLS:C1864621","MESH:C566431","medgen:351175"],"information_content":100.0}
{"id":"MONDO:0012524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corticosterone methyloxidase type 2 deficiency","equivalent_identifiers":["MONDO:0012524","OMIM:610600","UMLS:C3463917","medgen:483046"],"information_content":100.0}
{"id":"MONDO:0012525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 12","equivalent_identifiers":["MONDO:0012525","DOID:0110080","OMIM:610612","UMLS:C1857743","MESH:C565697","medgen:347535"],"information_content":100.0}
{"id":"MONDO:0012526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary angioedema type 3","equivalent_identifiers":["MONDO:0012526","DOID:0080940","OMIM:610618","orphanet:100054","UMLS:C1857728","MESH:D056828","MEDDRA:10080958","SNOMEDCT:427167008","medgen:346653"],"information_content":100.0}
{"id":"MONDO:0012527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 11 multiple types","equivalent_identifiers":["MONDO:0012527","DOID:0110249","OMIM:610623","UMLS:C1864567","UMLS:C3808029","MESH:C535344","medgen:351162"],"information_content":100.0}
{"id":"MONDO:0012528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 4 with or without anosmia","equivalent_identifiers":["MONDO:0012528","DOID:0090077","OMIM:610628","UMLS:C1857720","UMLS:C3552343","MESH:C565696","medgen:765257"],"information_content":100.0}
{"id":"MONDO:0012529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 3","equivalent_identifiers":["MONDO:0012529","DOID:0111887","OMIM:610629","UMLS:C1857719","MESH:C536355","NCIT:C176912","medgen:387892"],"information_content":100.0}
{"id":"MONDO:0012530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","equivalent_identifiers":["MONDO:0012530","OMIM:610644","orphanet:85112","UMLS:C2674504","UMLS:C3149931","MESH:C567165","medgen:461281"],"information_content":100.0}
{"id":"MONDO:0012531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum group B","equivalent_identifiers":["MONDO:0012531","DOID:0110850","OMIM:610651","UMLS:C0268136","UMLS:C1970808","MESH:C562590","MESH:C567061","NCIT:C3966","SNOMEDCT:1073003","medgen:78643"],"information_content":92.8}
{"id":"MONDO:0012532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary hemorrhagic telangiectasia type 4","equivalent_identifiers":["MONDO:0012532","OMIM:610655","UMLS:C1857688","MESH:C565691","medgen:341824"],"information_content":100.0}
{"id":"MONDO:0012534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 4","equivalent_identifiers":["MONDO:0012534","DOID:0111494","OMIM:610678","orphanet:254925","UMLS:C1857682","MESH:C565690","SNOMEDCT:766876004","medgen:387884"],"information_content":100.0}
{"id":"MONDO:0012536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 7","equivalent_identifiers":["MONDO:0012536","DOID:0110337","OMIM:610682","UMLS:C0432250","UMLS:C1853162","MESH:C536043","MESH:C565200","SNOMEDCT:254111008","medgen:343981"],"information_content":100.0}
{"id":"MONDO:0012538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nemaline myopathy 7","equivalent_identifiers":["MONDO:0012538","DOID:0110934","OMIM:610687","UMLS:C1853154","MESH:C565198","medgen:343979"],"information_content":100.0}
{"id":"MONDO:0012539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 6","equivalent_identifiers":["MONDO:0012539","DOID:0111001","OMIM:610688","UMLS:C1853153","MESH:C537689","medgen:342805"],"information_content":100.0}
{"id":"MONDO:0012540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 4","equivalent_identifiers":["MONDO:0012540","DOID:0110017","OMIM:610698","UMLS:C1853147","MESH:C565196","NCIT:C174215","medgen:339914"],"information_content":100.0}
{"id":"MONDO:0012541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness with labyrinthine aplasia, microtia, and microdontia","equivalent_identifiers":["MONDO:0012541","OMIM:610706","orphanet:90024","UMLS:C1853144","MESH:C565195","SNOMEDCT:702360007","medgen:342803"],"information_content":100.0}
{"id":"MONDO:0012543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 5","equivalent_identifiers":["MONDO:0012543","DOID:0111438","OMIM:610708","UMLS:C1853139","MESH:C537126","medgen:377837"],"information_content":100.0}
{"id":"MONDO:0012544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly-syndactyly syndrome","equivalent_identifiers":["MONDO:0012544","DOID:0050689","OMIM:610713","orphanet:93409","UMLS:C1853137","MESH:C565193","medgen:377836"],"information_content":100.0}
{"id":"MONDO:0012545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutral lipid storage myopathy","equivalent_identifiers":["MONDO:0012545","OMIM:610717","orphanet:98908","UMLS:C1853136","MESH:C565192","SNOMEDCT:699315005","medgen:339913","icd11.foundation:1512138529"],"information_content":100.0}
{"id":"MONDO:0012546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 3","equivalent_identifiers":["MONDO:0012546","DOID:0080382","OMIM:610725","UMLS:C1853124","medgen:377831"],"information_content":100.0}
{"id":"MONDO:0012547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 4","equivalent_identifiers":["MONDO:0012547","DOID:0060582","OMIM:610733","UMLS:C1853120","MESH:C548082","NCIT:C176932","medgen:339908"],"information_content":100.0}
{"id":"MONDO:0012549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive ataxia, Beauce type","equivalent_identifiers":["MONDO:0012549","DOID:0111618","OMIM:610743","orphanet:88644","UMLS:C1853116","MESH:C565188","medgen:343973"],"information_content":100.0}
{"id":"MONDO:0012551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia areata 2","equivalent_identifiers":["MONDO:0012551","OMIM:610753","UMLS:C1853104","MESH:C565186","medgen:343971"],"information_content":100.0}
{"id":"MONDO:0012553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebrooculofacioskeletal syndrome 2","equivalent_identifiers":["MONDO:0012553","DOID:0080912","OMIM:610756","UMLS:C1853102","MESH:C565185","medgen:342799"],"information_content":100.0}
{"id":"MONDO:0012554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebrooculofacioskeletal syndrome 4","equivalent_identifiers":["MONDO:0012554","DOID:0080914","OMIM:610758","UMLS:C1853100","MESH:C565184","NCIT:C173104","medgen:342798"],"information_content":100.0}
{"id":"MONDO:0012555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cornelia de Lange syndrome 3","equivalent_identifiers":["MONDO:0012555","DOID:0080507","OMIM:610759","UMLS:C1853099","medgen:339902"],"information_content":100.0}
{"id":"MONDO:0012556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DK1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0012556","DOID:0080565","OMIM:610768","orphanet:91131","UMLS:C1835849","MESH:C563666","SNOMEDCT:718712005","medgen:332072"],"information_content":100.0}
{"id":"MONDO:0012557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy-hypotonia-lactic acidosis syndrome","equivalent_identifiers":["MONDO:0012557","OMIM:610773","orphanet:91130","UMLS:C1835845","UMLS:C4305259","MESH:C563665","SNOMEDCT:1187515001","SNOMEDCT:718713000","medgen:324373"],"information_content":100.0}
{"id":"MONDO:0012558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiphyseal dysplasia, Baumann type","equivalent_identifiers":["MONDO:0012558","OMIM:610797","UMLS:C1835830","MESH:C563664","medgen:322764"],"information_content":100.0}
{"id":"MONDO:0012559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary immunodeficiency syndrome due to p14 deficiency","equivalent_identifiers":["MONDO:0012559","OMIM:610798","orphanet:90023","UMLS:C1835829","UMLS:C4305256","MESH:C563663","SNOMEDCT:718717004","medgen:372135","icd11.foundation:813140844"],"information_content":100.0}
{"id":"MONDO:0012561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAKUT1","equivalent_identifiers":["MONDO:0012561","DOID:0080206","OMIM:610805","UMLS:C1835826","MESH:C563661","medgen:322763"],"information_content":100.0}
{"id":"MONDO:0012562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 7","equivalent_identifiers":["MONDO:0012562","DOID:0110876","OMIM:610828","UMLS:C1835820","MESH:C563660","medgen:372134"],"information_content":100.0}
{"id":"MONDO:0012563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 9","equivalent_identifiers":["MONDO:0012563","DOID:0110873","OMIM:610829","UMLS:C1835819","MESH:C563659","medgen:324369"],"information_content":100.0}
{"id":"MONDO:0012565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group N","equivalent_identifiers":["MONDO:0012565","DOID:0111094","OMIM:610832","UMLS:C1835817","MESH:C563657","NCIT:C176894","medgen:372133"],"information_content":92.8}
{"id":"MONDO:0012569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitral valve prolapse, myxomatous 3","equivalent_identifiers":["MONDO:0012569","OMIM:610840","UMLS:C1835814","MESH:C563655","medgen:372132"],"information_content":100.0}
{"id":"MONDO:0012570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency","equivalent_identifiers":["MONDO:0012570","OMIM:610842","orphanet:91135","UMLS:C1835813","UMLS:C4049241","MESH:C563654","MEDDRA:10076864","SNOMEDCT:717941005","medgen:332067"],"information_content":100.0}
{"id":"MONDO:0012571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 6","equivalent_identifiers":["MONDO:0012571","DOID:0110606","OMIM:610852","UMLS:C1970506","MESH:C567057","medgen:370930"],"information_content":100.0}
{"id":"MONDO:0012573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vesicoureteral reflux 2","equivalent_identifiers":["MONDO:0012573","OMIM:610878","UMLS:C1970483","MESH:C567053","medgen:370270"],"information_content":100.0}
{"id":"MONDO:0012574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Potocki-Lupski syndrome","equivalent_identifiers":["MONDO:0012574","DOID:0060853","OMIM:610883","orphanet:1713","UMLS:C2931246","MESH:C538355","NCIT:C124846","SNOMEDCT:734016004","medgen:444010","icd11.foundation:1720095972"],"information_content":100.0}
{"id":"MONDO:0012575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchiootorenal syndrome 2","equivalent_identifiers":["MONDO:0012575","DOID:0111424","OMIM:610896","UMLS:C1970479","medgen:410081"],"information_content":100.0}
{"id":"MONDO:0012579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune pulmonary alveolar proteinosis","equivalent_identifiers":["MONDO:0012579","OMIM:610910","orphanet:747","UMLS:C1970472","MESH:C567049","MEDDRA:10078788","NCIT:C202011","SNOMEDCT:707443007","medgen:410079","icd11.foundation:676409940"],"information_content":100.0}
{"id":"MONDO:0012580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary pulmonary alveolar proteinosis","equivalent_identifiers":["MONDO:0012580","OMIM.PS:265120","orphanet:264675","UMLS:C2931035","UMLS:C3711368","MESH:C535832","MESH:C580477","SNOMEDCT:328641000119109","SNOMEDCT:707442002","medgen:777976"],"information_content":85.5}
{"id":"MONDO:0012581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 8","equivalent_identifiers":["MONDO:0012581","DOID:0110336","OMIM:610915","UMLS:C1970458","MESH:C536049","medgen:410075"],"information_content":100.0}
{"id":"MONDO:0012582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interstitial lung disease due to ABCA3 deficiency","equivalent_identifiers":["MONDO:0012582","OMIM:610921","orphanet:440402","UMLS:C1970456","MESH:C567046","NCIT:C99070","SNOMEDCT:1222678003","medgen:410074"],"information_content":100.0}
{"id":"MONDO:0012584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic lupus erythematosus, susceptibility to, 9","equivalent_identifiers":["MONDO:0012584","OMIM:610927","UMLS:C1970455","medgen:369736"],"information_content":100.0}
{"id":"MONDO:0012585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary heart disease, susceptibility to, 7","equivalent_identifiers":["MONDO:0012585","OMIM:610938","UMLS:C1970441","medgen:370260"],"information_content":100.0}
{"id":"MONDO:0012586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary artery disease, autosomal dominant 2","equivalent_identifiers":["MONDO:0012586","OMIM:610947","UMLS:C1970440","MESH:C567045","medgen:370259"],"information_content":100.0}
{"id":"MONDO:0012588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 7","equivalent_identifiers":["MONDO:0012588","DOID:0110722","OMIM:610951","orphanet:228366","UMLS:C1838571","MESH:C563989","medgen:325457"],"information_content":100.0}
{"id":"MONDO:0012589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pitt-Hopkins syndrome","equivalent_identifiers":["MONDO:0012589","DOID:0060488","OMIM:610954","orphanet:2896","UMLS:C1970431","MESH:C537403","NCIT:C129872","SNOMEDCT:702344008","medgen:370910","icd11.foundation:2040786134"],"information_content":100.0}
{"id":"MONDO:0012590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"XFE progeroid syndrome","equivalent_identifiers":["MONDO:0012590","DOID:0060590","OMIM:610965","UMLS:C1970416","MESH:C567043","NCIT:C173111","medgen:410064"],"information_content":100.0}
{"id":"MONDO:0012591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 5","equivalent_identifiers":["MONDO:0012591","DOID:0110344","OMIM:610967","orphanet:216828","UMLS:C2931093","MESH:C567042","SNOMEDCT:1003379004","medgen:419332","icd11.foundation:1718903422"],"information_content":100.0}
{"id":"MONDO:0012592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 11","equivalent_identifiers":["MONDO:0012592","DOID:0110351","OMIM:610968","UMLS:C3151218","medgen:462568"],"information_content":100.0}
{"id":"MONDO:0012593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain-lung-thyroid syndrome","equivalent_identifiers":["MONDO:0012593","OMIM:610978","orphanet:209905","UMLS:C1970269","MESH:C567034","NCIT:C202546","SNOMEDCT:719098007","medgen:369694","icd11.foundation:809856670"],"information_content":100.0}
{"id":"MONDO:0012594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement factor I deficiency","equivalent_identifiers":["MONDO:0012594","DOID:0050419","OMIM:610984","orphanet:200418","UMLS:C3463916","MESH:C572568","SNOMEDCT:234621005","medgen:483045"],"information_content":100.0}
{"id":"MONDO:0012595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leprosy, susceptibility to, 4","equivalent_identifiers":["MONDO:0012595","OMIM:610988","UMLS:C1970254","UMLS:C2750103","medgen:370866"],"information_content":100.0}
{"id":"MONDO:0012596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PSAT deficiency","equivalent_identifiers":["MONDO:0012596","DOID:0050723","OMIM:610992","orphanet:284417","UMLS:C1970253","MESH:C567032","SNOMEDCT:718603002","medgen:410026"],"information_content":100.0}
{"id":"MONDO:0012597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate cancer, hereditary, 9","equivalent_identifiers":["MONDO:0012597","OMIM:610997","UMLS:C1970250","MESH:C567031","medgen:369689"],"information_content":100.0}
{"id":"MONDO:0012602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 24","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012602","DOID:0110482","OMIM:611022","UMLS:C1970239","MESH:C567027","medgen:370208"],"information_content":100.0}
{"id":"MONDO:0012603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic kinesigenic dyskinesia 2","equivalent_identifiers":["MONDO:0012603","DOID:0090054","OMIM:611031","UMLS:C1970238","MESH:C567026","medgen:410022"],"information_content":100.0}
{"id":"MONDO:0012604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia 3","equivalent_identifiers":["MONDO:0012604","DOID:0060842","OMIM:611038","UMLS:C1970237","UMLS:C5774181","MESH:C567025","medgen:1823955"],"information_content":100.0}
{"id":"MONDO:0012605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia 5","equivalent_identifiers":["MONDO:0012605","DOID:0060837","OMIM:611040","orphanet:251279","UMLS:C1970236","MESH:C567024","medgen:410021","ICD10:Q15.8"],"information_content":100.0}
{"id":"MONDO:0012607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asthma-related traits, susceptibility to, 5","equivalent_identifiers":["MONDO:0012607","OMIM:611064","UMLS:C1970224","medgen:370858"],"information_content":100.0}
{"id":"MONDO:0012608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal recessive 4","equivalent_identifiers":["MONDO:0012608","DOID:0111213","OMIM:611067","orphanet:206580","UMLS:C1970211","MESH:C567023","SNOMEDCT:771302009","medgen:369682"],"information_content":100.0}
{"id":"MONDO:0012610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 10","equivalent_identifiers":["MONDO:0012610","DOID:0110885","OMIM:611081","UMLS:C1970207","MESH:C567021","medgen:370205"],"information_content":100.0}
{"id":"MONDO:0012611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyhydramnios, megalencephaly, and symptomatic epilepsy","equivalent_identifiers":["MONDO:0012611","DOID:0070511","OMIM:611087","orphanet:500533","UMLS:C1970203","MESH:C567020","SNOMEDCT:1167371007","medgen:370203"],"information_content":100.0}
{"id":"MONDO:0012612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 12","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012612","DOID:0081180","OMIM:611090","UMLS:C1970200","MESH:C567019","medgen:370850"],"information_content":100.0}
{"id":"MONDO:0012613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 5","equivalent_identifiers":["MONDO:0012613","DOID:0081181","OMIM:611091","UMLS:C1970199","MESH:C567018","medgen:370849"],"information_content":100.0}
{"id":"MONDO:0012614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 6","equivalent_identifiers":["MONDO:0012614","DOID:0081182","OMIM:611092","UMLS:C1970198","MESH:C567017","medgen:370848"],"information_content":100.0}
{"id":"MONDO:0012615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 7","equivalent_identifiers":["MONDO:0012615","DOID:0081183","OMIM:611093","UMLS:C1970197","MESH:C567016","medgen:370847"],"information_content":100.0}
{"id":"MONDO:0012617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 9","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012617","DOID:0081184","OMIM:611095","UMLS:C1970195","MESH:C567014","medgen:369678"],"information_content":100.0}
{"id":"MONDO:0012618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 10","equivalent_identifiers":["MONDO:0012618","DOID:0081185","OMIM:611096","UMLS:C1970194","MESH:C567013","medgen:410010"],"information_content":100.0}
{"id":"MONDO:0012619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 11","equivalent_identifiers":["MONDO:0012619","DOID:0081186","OMIM:611097","UMLS:C1970193","MESH:C567012","medgen:369677"],"information_content":100.0}
{"id":"MONDO:0012621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-infertility syndrome","equivalent_identifiers":["MONDO:0012621","OMIM:611102","orphanet:94064","UMLS:C1970187","MESH:C567010","SNOMEDCT:700489002","medgen:370197","icd11.foundation:1430704280"],"information_content":100.0}
{"id":"MONDO:0012622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome","equivalent_identifiers":["MONDO:0012622","OMIM:611105","orphanet:137898","UMLS:C1970180","MESH:C567009","NCIT:C188991","SNOMEDCT:703537008","SNOMEDCT:735421004","medgen:370845"],"information_content":100.0}
{"id":"MONDO:0012623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 4","equivalent_identifiers":["MONDO:0012623","DOID:0081187","OMIM:611107","UMLS:C1970179","MESH:C567008","medgen:370844"],"information_content":100.0}
{"id":"MONDO:0012624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acyl-CoA dehydrogenase 9 deficiency","equivalent_identifiers":["MONDO:0012624","DOID:0112072","OMIM:611126","orphanet:99901","UMLS:C1970173","UMLS:C4747517","MESH:C567006","MEDDRA:10081518","SNOMEDCT:725046003","medgen:1648400"],"information_content":100.0}
{"id":"MONDO:0012625","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 37","equivalent_identifiers":["MONDO:0012625","DOID:0110399","OMIM:611131","UMLS:C1970163","MESH:C567005","medgen:410004"],"information_content":100.0}
{"id":"MONDO:0012626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 4","equivalent_identifiers":["MONDO:0012626","DOID:0070118","OMIM:611134","UMLS:C1970161","UMLS:C1970162","MESH:C567003","MESH:C567004","medgen:410003"],"information_content":100.0}
{"id":"MONDO:0012627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, idiopathic generalized, susceptibility to, 13","equivalent_identifiers":["MONDO:0012627","OMIM:611136","UMLS:C1970160","UMLS:C2749942","UMLS:C4013473","MESH:C567002","medgen:861910"],"information_content":100.0}
{"id":"MONDO:0012629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal nonkinesigenic dyskinesia 2","equivalent_identifiers":["MONDO:0012629","DOID:0090047","OMIM:611147","UMLS:C1970149","MESH:C567001","medgen:370188"],"information_content":100.0}
{"id":"MONDO:0012634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofacial dysplasia - osteopenia syndrome","equivalent_identifiers":["MONDO:0012634","OMIM:611174","orphanet:314555","UMLS:C1970027","MESH:C566988","SNOMEDCT:773622005","medgen:370148"],"information_content":100.0}
{"id":"MONDO:0012635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COG8-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0012635","DOID:0070260","OMIM:611182","orphanet:95428","UMLS:C1970021","MESH:C566987","SNOMEDCT:717774004","medgen:409971"],"information_content":100.0}
{"id":"MONDO:0012637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COG1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0012637","DOID:0070259","OMIM:611209","orphanet:263508","UMLS:C2931011","MESH:C535756","SNOMEDCT:718750004","medgen:443957"],"information_content":100.0}
{"id":"MONDO:0012638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia-brain atrophy syndrome","equivalent_identifiers":["MONDO:0012638","DOID:0111812","OMIM:611222","orphanet:77299","UMLS:C1970013","MESH:C566985","SNOMEDCT:720010009","medgen:370809"],"information_content":100.0}
{"id":"MONDO:0012639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 18","equivalent_identifiers":["MONDO:0012639","DOID:0110771","OMIM:611225","orphanet:209951","UMLS:C2749936","MESH:C567628","SNOMEDCT:732932004","medgen:442343"],"information_content":100.0}
{"id":"MONDO:0012640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4J","equivalent_identifiers":["MONDO:0012640","DOID:0110184","OMIM:611228","orphanet:139515","UMLS:C1970011","MESH:C566984","NCIT:C134954","SNOMEDCT:720638000","medgen:370808","icd11.foundation:905681283"],"information_content":100.0}
{"id":"MONDO:0012643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 32","equivalent_identifiers":["MONDO:0012643","DOID:0110783","OMIM:611252","orphanet:171622","UMLS:C1970009","MESH:C566983","SNOMEDCT:726606003","medgen:409967"],"information_content":100.0}
{"id":"MONDO:0012644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asphyxiating thoracic dystrophy 2","equivalent_identifiers":["MONDO:0012644","DOID:0110086","OMIM:611263","UMLS:C1970005","MESH:C566982","medgen:370804"],"information_content":100.0}
{"id":"MONDO:0012648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isobutyryl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0012648","OMIM:611283","orphanet:79159","UMLS:C1969809","MESH:C535541","NCIT:C129975","SNOMEDCT:1306747001","SNOMEDCT:445274004","medgen:370754"],"information_content":100.0}
{"id":"MONDO:0012650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cernunnos-XLF deficiency","equivalent_identifiers":["MONDO:0012650","DOID:0061090","OMIM:611291","orphanet:169079","UMLS:C1969799","UMLS:C4303792","MESH:C566970","NCIT:C162695","SNOMEDCT:720853005","medgen:369590"],"information_content":100.0}
{"id":"MONDO:0012651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia 2","equivalent_identifiers":["MONDO:0012651","DOID:0050941","OMIM:611302","orphanet:397946","UMLS:C1969796","MESH:C566969","NCIT:C177252","medgen:370750"],"information_content":100.0}
{"id":"MONDO:0012652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2L","equivalent_identifiers":["MONDO:0012652","DOID:0110284","OMIM:611307","orphanet:206549","UMLS:C1969785","MESH:C566968","SNOMEDCT:726616006","medgen:370102"],"information_content":100.0}
{"id":"MONDO:0012654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 4","equivalent_identifiers":["MONDO:0012654","DOID:0110109","OMIM:611363","UMLS:C1969657","MESH:C566963","medgen:369556"],"information_content":100.0}
{"id":"MONDO:0012655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonic epilepsy, juvenile, susceptibility to, 4","equivalent_identifiers":["MONDO:0012655","DOID:0111327","OMIM:611364","UMLS:C1969656","medgen:370067"],"information_content":100.0}
{"id":"MONDO:0012656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal congenital contracture syndrome 3","equivalent_identifiers":["MONDO:0012656","DOID:0060653","OMIM:611369","orphanet:137783","UMLS:C1969655","MESH:C566961","SNOMEDCT:715420005","medgen:369555"],"information_content":100.0}
{"id":"MONDO:0012657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mungan syndrome","equivalent_identifiers":["MONDO:0012657","OMIM:611376","UMLS:C1969653","MESH:C548078","medgen:369554"],"information_content":100.0}
{"id":"MONDO:0012658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type B2","equivalent_identifiers":["MONDO:0012658","DOID:0110975","OMIM:611377","orphanet:140908","UMLS:C1969652","SNOMEDCT:770406002","medgen:409880","icd11.foundation:891810441"],"information_content":100.0}
{"id":"MONDO:0012659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 9","equivalent_identifiers":["MONDO:0012659","DOID:0110021","OMIM:611378","UMLS:C1969651","MESH:C566958","medgen:370717"],"information_content":100.0}
{"id":"MONDO:0012662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 2D","equivalent_identifiers":["MONDO:0012662","DOID:0110840","OMIM:611383","UMLS:C1568249","medgen:292821"],"information_content":100.0}
{"id":"MONDO:0012664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia 3","equivalent_identifiers":["MONDO:0012664","DOID:0050942","OMIM:611390","orphanet:314603","UMLS:C1969645","MESH:C566956","SNOMEDCT:784343003","medgen:370715"],"information_content":100.0}
{"id":"MONDO:0012665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 33","equivalent_identifiers":["MONDO:0012665","DOID:0110264","OMIM:611391","UMLS:C1969644","UMLS:C3808107","MESH:C566955","medgen:814437"],"information_content":100.0}
{"id":"MONDO:0012667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1W","equivalent_identifiers":["MONDO:0012667","DOID:0110446","OMIM:611407","UMLS:C1969639","MESH:C566954","NCIT:C187983","medgen:370063"],"information_content":100.0}
{"id":"MONDO:0012669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Legius syndrome","equivalent_identifiers":["MONDO:0012669","DOID:0070484","OMIM:611431","orphanet:137605","UMLS:C1969623","MESH:C548032","NCIT:C176941","SNOMEDCT:703541007","medgen:370709","icd11.foundation:1025118245"],"information_content":100.0}
{"id":"MONDO:0012670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 63","equivalent_identifiers":["MONDO:0012670","DOID:0110515","OMIM:611451","UMLS:C1969621","MESH:C566951","medgen:409872"],"information_content":100.0}
{"id":"MONDO:0012672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholelithiasis","equivalent_identifiers":["MONDO:0012672","DOID:10211","OMIM:611465","EFO:0004799","UMLS:C0006739","UMLS:C0008350","UMLS:C1969115","MESH:C566936","MESH:D002769","MEDDRA:10004674","MEDDRA:10006986","MEDDRA:10008629","MEDDRA:10017650","NCIT:C122822","SNOMEDCT:266474003","medgen:3039","icd11.foundation:1268183934","ICD9:574.5","HP:0001081"],"information_content":88.2}
{"id":"MONDO:0012675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corticosteroid-binding globulin deficiency","equivalent_identifiers":["MONDO:0012675","DOID:0090030","OMIM:611489","orphanet:199247","UMLS:C1852529","UMLS:C1969107","MESH:C565152","MESH:C566934","SNOMEDCT:773728004","medgen:343831","ICD10:E27.8"],"information_content":100.0}
{"id":"MONDO:0012676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive osteopetrosis 4","equivalent_identifiers":["MONDO:0012676","DOID:0110944","OMIM:611490","UMLS:C1969106","MESH:C566933","medgen:370598"],"information_content":100.0}
{"id":"MONDO:0012677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 4","equivalent_identifiers":["MONDO:0012677","OMIM:611493","UMLS:C1862394","MESH:C566244","medgen:400041"],"information_content":100.0}
{"id":"MONDO:0012678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 5","equivalent_identifiers":["MONDO:0012678","OMIM:611494","UMLS:C1969099","MESH:C566932","medgen:369411"],"information_content":100.0}
{"id":"MONDO:0012679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive osteopetrosis 6","equivalent_identifiers":["MONDO:0012679","DOID:0110945","OMIM:611497","orphanet:210110","UMLS:C1969093","MESH:C566931","medgen:409754"],"information_content":100.0}
{"id":"MONDO:0012680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 7","equivalent_identifiers":["MONDO:0012680","DOID:0111116","OMIM:611498","UMLS:C1969092","MESH:C566930","medgen:369409"],"information_content":100.0}
{"id":"MONDO:0012682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 35","equivalent_identifiers":["MONDO:0012682","DOID:0111989","OMIM:611521","orphanet:331226","UMLS:C1969086","MESH:C566928","SNOMEDCT:1197415001","medgen:409751"],"information_content":100.0}
{"id":"MONDO:0012683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 6","equivalent_identifiers":["MONDO:0012683","DOID:0060275","OMIM:611523","orphanet:166073","UMLS:C1969084","MESH:C548074","SNOMEDCT:718606005","medgen:370596","icd11.foundation:1612653027"],"information_content":100.0}
{"id":"MONDO:0012684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia 12","equivalent_identifiers":["MONDO:0012684","DOID:0110083","OMIM:611528","UMLS:C1969081","MESH:C566925","medgen:409749"],"information_content":100.0}
{"id":"MONDO:0012687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial cavitary optic disk anomaly","equivalent_identifiers":["MONDO:0012687","OMIM:611543","orphanet:464760","UMLS:C1969063","MESH:C566924","SNOMEDCT:1197365006","medgen:370593"],"information_content":100.0}
{"id":"MONDO:0012688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 17 multiple types","equivalent_identifiers":["MONDO:0012688","DOID:0110270","OMIM:611544","UMLS:C1969062","UMLS:C3888124","MESH:C566923","medgen:854781"],"information_content":100.0}
{"id":"MONDO:0012689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 5","equivalent_identifiers":["MONDO:0012689","DOID:0080862","OMIM:611548","UMLS:C1969060","MESH:C566921","medgen:409743"],"information_content":100.0}
{"id":"MONDO:0012690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 5","equivalent_identifiers":["MONDO:0012690","DOID:0060583","OMIM:611553","UMLS:C1969057","MESH:C548083","NCIT:C176933","medgen:370589"],"information_content":100.0}
{"id":"MONDO:0012691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LEOPARD syndrome 2","equivalent_identifiers":["MONDO:0012691","DOID:0080549","OMIM:611554","UMLS:C1969056","MESH:C537117","medgen:370588"],"information_content":100.0}
{"id":"MONDO:0012692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies","equivalent_identifiers":["MONDO:0012692","OMIM:611555","UMLS:C1969055","MESH:C566918","medgen:370587"],"information_content":100.0}
{"id":"MONDO:0012693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to muscle and heart glycogen synthase deficiency","equivalent_identifiers":["MONDO:0012693","OMIM:611556","orphanet:137625","UMLS:C1969054","UMLS:C4510752","MESH:C566917","SNOMEDCT:725027004","medgen:409741"],"information_content":100.0}
{"id":"MONDO:0012694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 7","equivalent_identifiers":["MONDO:0012694","DOID:0111002","OMIM:611560","UMLS:C1969053","MESH:C566916","NCIT:C159653","medgen:369401"],"information_content":100.0}
{"id":"MONDO:0012695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 5","equivalent_identifiers":["MONDO:0012695","DOID:0070119","OMIM:611561","UMLS:C1969052","MESH:C566915","medgen:409740"],"information_content":100.0}
{"id":"MONDO:0012696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otosclerosis 4","equivalent_identifiers":["MONDO:0012696","DOID:0060923","OMIM:611571","UMLS:C1969046","MESH:C566914","medgen:369916"],"information_content":100.0}
{"id":"MONDO:0012697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otosclerosis 7","equivalent_identifiers":["MONDO:0012697","DOID:0060925","OMIM:611572","UMLS:C1969044","MESH:C566913","medgen:409738"],"information_content":100.0}
{"id":"MONDO:0012698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 2E","equivalent_identifiers":["MONDO:0012698","DOID:0110956","OMIM:611584","UMLS:C2700405","medgen:398476"],"information_content":100.0}
{"id":"MONDO:0012699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2M","equivalent_identifiers":["MONDO:0012699","DOID:0110296","OMIM:611588","orphanet:206554","UMLS:C1969040","MESH:C566912","SNOMEDCT:726618007","medgen:370585"],"information_content":100.0}
{"id":"MONDO:0012700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubular acidosis, distal, 4, with hemolytic anemia","equivalent_identifiers":["MONDO:0012700","OMIM:611590","orphanet:93610","UMLS:C1969039","UMLS:C5436235","MESH:C566911","NCIT:C198574","medgen:1771439"],"information_content":100.0}
{"id":"MONDO:0012701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 12 multiple types","equivalent_identifiers":["MONDO:0012701","DOID:0110239","OMIM:611597","UMLS:C1969032","UMLS:C3808115","MESH:C566909","medgen:814445"],"information_content":100.0}
{"id":"MONDO:0012703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lissencephaly 3","equivalent_identifiers":["MONDO:0012703","OMIM:611603","orphanet:171680","UMLS:C4305153","MESH:C566908","NCIT:C148461","SNOMEDCT:718759003","medgen:930822"],"information_content":100.0}
{"id":"MONDO:0012704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1X","equivalent_identifiers":["MONDO:0012704","DOID:0110444","OMIM:611615","UMLS:C1969024","MESH:C566907","medgen:370583"],"information_content":100.0}
{"id":"MONDO:0012705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial temporal lobe epilepsy 3","equivalent_identifiers":["MONDO:0012705","DOID:0060750","OMIM:611630","UMLS:C1968848","MESH:C566903","SNOMEDCT:770405003","medgen:368898"],"information_content":100.0}
{"id":"MONDO:0012706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial temporal lobe epilepsy 4","equivalent_identifiers":["MONDO:0012706","DOID:0060753","OMIM:611631","UMLS:C1968847","MESH:C566902","medgen:368897"],"information_content":100.0}
{"id":"MONDO:0012707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial febrile seizures 9","equivalent_identifiers":["MONDO:0012707","DOID:0111303","OMIM:611634","UMLS:C1968846","MESH:C566901","medgen:369868"],"information_content":100.0}
{"id":"MONDO:0012708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary lateral sclerosis, adult, 1","equivalent_identifiers":["MONDO:0012708","OMIM:611637","UMLS:C1968845","MESH:C566900","medgen:369357"],"information_content":100.0}
{"id":"MONDO:0012709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with coloboma 5","equivalent_identifiers":["MONDO:0012709","OMIM:611638","UMLS:C1968843","MESH:C566899","medgen:369356"],"information_content":100.0}
{"id":"MONDO:0012712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia with cerebellar atrophy","equivalent_identifiers":["MONDO:0012712","OMIM:611694","UMLS:C2673697","MESH:C567131","medgen:392987"],"information_content":100.0}
{"id":"MONDO:0012714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset myopathy with fatal cardiomyopathy","equivalent_identifiers":["MONDO:0012714","DOID:0081341","OMIM:611705","orphanet:289377","UMLS:C2673677","MESH:C567129","SNOMEDCT:702343002","medgen:435983"],"information_content":100.0}
{"id":"MONDO:0012715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine with or without aura, susceptibility to, 12","equivalent_identifiers":["MONDO:0012715","OMIM:611706","UMLS:C2673676","medgen:388698"],"information_content":100.0}
{"id":"MONDO:0012716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia, Cantu type","equivalent_identifiers":["MONDO:0012716","DOID:0112287","OMIM:611717","orphanet:163654","UMLS:C2673649","MESH:C567128","SNOMEDCT:718765003","medgen:435975","icd11.foundation:897226700"],"information_content":100.0}
{"id":"MONDO:0012717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypomagnesemia 4","equivalent_identifiers":["MONDO:0012717","DOID:0060882","OMIM:611718","UMLS:C2673648","MESH:C567127","medgen:388692"],"information_content":100.0}
{"id":"MONDO:0012718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotonia with lactic acidemia and hyperammonemia","equivalent_identifiers":["MONDO:0012718","DOID:0111473","OMIM:611719","orphanet:137908","UMLS:C2673642","MESH:C567126","SNOMEDCT:724279004","medgen:435972"],"information_content":100.0}
{"id":"MONDO:0012719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined PSAP deficiency","equivalent_identifiers":["MONDO:0012719","DOID:0111330","OMIM:611721","orphanet:139406","UMLS:C2673635","UMLS:C4303785","MESH:C567125","SNOMEDCT:720864008","medgen:382151"],"information_content":100.0}
{"id":"MONDO:0012720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Krabbe disease due to saposin A deficiency","equivalent_identifiers":["MONDO:0012720","OMIM:611722","UMLS:C2673266","MESH:C567097","SNOMEDCT:1296731001","medgen:392873"],"information_content":100.0}
{"id":"MONDO:0012721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive myoclonic epilepsy type 3","equivalent_identifiers":["MONDO:0012721","DOID:0111446","OMIM:611726","orphanet:263516","UMLS:C2673257","MESH:C567095","SNOMEDCT:783064000","medgen:388595","icd11.foundation:383417276"],"information_content":100.0}
{"id":"MONDO:0012723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 10","equivalent_identifiers":["MONDO:0012723","DOID:0110291","OMIM:611755","UMLS:C1857821","MESH:C565720","medgen:346672"],"information_content":100.0}
{"id":"MONDO:0012724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial cold autoinflammatory syndrome 2","equivalent_identifiers":["MONDO:0012724","DOID:0090063","OMIM:611762","orphanet:247868","UMLS:C2673198","MESH:C567090","NCIT:C119043","SNOMEDCT:783146009","medgen:435869"],"information_content":100.0}
{"id":"MONDO:0012725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoprotein glomerulopathy","equivalent_identifiers":["MONDO:0012725","OMIM:611771","orphanet:329481","UMLS:C2673196","MESH:C567089","SNOMEDCT:446923008","medgen:382034","icd11.foundation:69778702"],"information_content":100.0}
{"id":"MONDO:0012726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome","equivalent_identifiers":["MONDO:0012726","OMIM:611773","orphanet:73229","UMLS:C2673195","MESH:C567088","SNOMEDCT:702428000","medgen:382033"],"information_content":100.0}
{"id":"MONDO:0012727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucocutaneous lymph node syndrome","equivalent_identifiers":["MONDO:0012727","DOID:13378","OMIM:611775","orphanet:2331","EFO:0004246","UMLS:C0026691","UMLS:C2936917","MESH:C537014","MESH:D009080","MEDDRA:10000747","MEDDRA:10023320","MEDDRA:10028083","NCIT:C34825","SNOMEDCT:75053002","medgen:10118","icd11.foundation:540285662","ICD10:M30.3","ICD9:446.1"],"information_content":100.0}
{"id":"MONDO:0012728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 2","equivalent_identifiers":["MONDO:0012728","DOID:0110219","OMIM:611777","UMLS:C2673193","MESH:C567087","medgen:382031"],"information_content":100.0}
{"id":"MONDO:0012729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrocytosis, familial, 4","equivalent_identifiers":["MONDO:0012729","DOID:0080339","OMIM:611783","UMLS:C2673187","MESH:C567086","medgen:435867"],"information_content":100.0}
{"id":"MONDO:0012730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm, familial thoracic 6","equivalent_identifiers":["MONDO:0012730","OMIM:611788","UMLS:C2673186","MESH:C567085","medgen:435866"],"information_content":100.0}
{"id":"MONDO:0012731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"elliptocytosis 1","equivalent_identifiers":["MONDO:0012731","OMIM:611804","UMLS:C2678497","MESH:C567520","medgen:394841"],"information_content":100.0}
{"id":"MONDO:0012732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tremor, hereditary essential, and idiopathic normal pressure hydrocephalus","equivalent_identifiers":["MONDO:0012732","OMIM:611808","UMLS:C2678494","MESH:C567519","medgen:394839"],"information_content":100.0}
{"id":"MONDO:0012733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive bestrophinopathy","equivalent_identifiers":["MONDO:0012733","DOID:0050662","OMIM:611809","orphanet:139455","UMLS:C2678493","UMLS:C3888198","MESH:C567518","SNOMEDCT:723828008","medgen:854806"],"information_content":100.0}
{"id":"MONDO:0012734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SERKAL syndrome","equivalent_identifiers":["MONDO:0012734","OMIM:611812","orphanet:139466","UMLS:C2678492","MESH:C567517","NCIT:C123726","SNOMEDCT:723720008","medgen:394528"],"information_content":100.0}
{"id":"MONDO:0012735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Temple-Baraitser syndrome","equivalent_identifiers":["MONDO:0012735","OMIM:611816","orphanet:420561","EFO:0009062","UMLS:C2678486","MESH:C567516","SNOMEDCT:725140007","medgen:395636"],"information_content":100.0}
{"id":"MONDO:0012736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 9","equivalent_identifiers":["MONDO:0012736","DOID:0110650","OMIM:611818","UMLS:C2678485","MESH:C567515","medgen:395635"],"information_content":100.0}
{"id":"MONDO:0012737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 10","equivalent_identifiers":["MONDO:0012737","DOID:0110651","OMIM:611819","UMLS:C2678484","MESH:C567514","medgen:394836"],"information_content":100.0}
{"id":"MONDO:0012738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 11","equivalent_identifiers":["MONDO:0012738","DOID:0110652","OMIM:611820","UMLS:C2678483","MESH:C567513","NCIT:C192195","medgen:437218"],"information_content":100.0}
{"id":"MONDO:0012739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","equivalent_identifiers":["MONDO:0012739","OMIM:611863","orphanet:139450","UMLS:C2678482","MESH:C567512","medgen:394835"],"information_content":100.0}
{"id":"MONDO:0012740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 22q11.2 deletion syndrome, distal","equivalent_identifiers":["MONDO:0012740","DOID:0060413","OMIM:611867","orphanet:261330","UMLS:C2678480","UMLS:C4518343","MESH:C567511","SNOMEDCT:734029004","medgen:395634"],"information_content":100.0}
{"id":"MONDO:0012741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate cancer, hereditary, 12","equivalent_identifiers":["MONDO:0012741","OMIM:611868","UMLS:C2678479","MESH:C567510","medgen:437216"],"information_content":100.0}
{"id":"MONDO:0012742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 3","equivalent_identifiers":["MONDO:0012742","DOID:0110220","OMIM:611875","UMLS:C2678478","MESH:C567509","medgen:395633"],"information_content":100.0}
{"id":"MONDO:0012743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 4","equivalent_identifiers":["MONDO:0012743","DOID:0110221","OMIM:611876","UMLS:C2678477","MESH:C567508","medgen:395632"],"information_content":100.0}
{"id":"MONDO:0012744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1Y","equivalent_identifiers":["MONDO:0012744","DOID:0110457","OMIM:611878","UMLS:C2678476","MESH:C567507","medgen:437215"],"information_content":100.0}
{"id":"MONDO:0012745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1Z","equivalent_identifiers":["MONDO:0012745","DOID:0110434","OMIM:611879","UMLS:C2678475","MESH:C567506","medgen:395631"],"information_content":100.0}
{"id":"MONDO:0012746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 2A","equivalent_identifiers":["MONDO:0012746","DOID:0110460","OMIM:611880","UMLS:C2678474","MESH:C567505","medgen:437214"],"information_content":100.0}
{"id":"MONDO:0012747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to aldolase A deficiency","equivalent_identifiers":["MONDO:0012747","OMIM:611881","orphanet:57","UMLS:C0272066","MESH:C562718","SNOMEDCT:111578003","SNOMEDCT:1187461004","medgen:82895","icd11.foundation:1020924235"],"information_content":100.0}
{"id":"MONDO:0012748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 7","equivalent_identifiers":["MONDO:0012748","DOID:0110605","OMIM:611884","UMLS:C2678473","UMLS:C4552030","MESH:C567504","medgen:394834"],"information_content":100.0}
{"id":"MONDO:0012750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal arthrogryposis-anterior horn cell disease syndrome","equivalent_identifiers":["MONDO:0012750","OMIM:611890","orphanet:53696","UMLS:C2678471","UMLS:C5193016","MESH:C567502","SNOMEDCT:715565004","medgen:1677784"],"information_content":100.0}
{"id":"MONDO:0012753","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 9","equivalent_identifiers":["MONDO:0012753","DOID:0060200","OMIM:611895","UMLS:C2678468","MESH:C567499","SNOMEDCT:1204351003","medgen:395629"],"information_content":100.0}
{"id":"MONDO:0012755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic ataxia type 7","equivalent_identifiers":["MONDO:0012755","DOID:0050995","OMIM:611907","orphanet:209970","UMLS:C2677843","MESH:C567459","SNOMEDCT:718752007","medgen:383209","icd11.foundation:1855038011"],"information_content":100.0}
{"id":"MONDO:0012756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proximal 16p11.2 microdeletion syndrome","equivalent_identifiers":["MONDO:0012756","DOID:0070515","OMIM:611913","orphanet:261197","UMLS:C3150154","UMLS:C3697355","UMLS:C4273657","MESH:C579850","NCIT:C120408","SNOMEDCT:699307007","SNOMEDCT:718227006","medgen:461504"],"information_content":100.0}
{"id":"MONDO:0012757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome","equivalent_identifiers":["MONDO:0012757","OMIM:611926","orphanet:137631","UMLS:C3150156","UMLS:C4302919","SNOMEDCT:721977007","medgen:461506"],"information_content":100.0}
{"id":"MONDO:0012758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate cancer, hereditary, 13","equivalent_identifiers":["MONDO:0012758","OMIM:611928","UMLS:C2677821","MESH:C567456","medgen:383198"],"information_content":100.0}
{"id":"MONDO:0012759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"camptodactyly syndrome, Guadalajara type 3","equivalent_identifiers":["MONDO:0012759","OMIM:611929","orphanet:488434","UMLS:C2677809","MESH:C567455","SNOMEDCT:1172633003","medgen:394371"],"information_content":100.0}
{"id":"MONDO:0012761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 3q29 microduplication syndrome","equivalent_identifiers":["MONDO:0012761","DOID:0060459","OMIM:611936","orphanet:251038","UMLS:C2749873","MESH:C567626","SNOMEDCT:717973004","medgen:440897"],"information_content":100.0}
{"id":"MONDO:0012762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"catecholaminergic polymorphic ventricular tachycardia 2","equivalent_identifiers":["MONDO:0012762","DOID:0060676","OMIM:611938","UMLS:C2677794","NCIT:C148368","medgen:393837"],"information_content":100.0}
{"id":"MONDO:0012763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, childhood absence, susceptibility to, 6","equivalent_identifiers":["MONDO:0012763","OMIM:611942","UMLS:C2749872","medgen:440896"],"information_content":100.0}
{"id":"MONDO:0012764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RIDDLE syndrome","equivalent_identifiers":["MONDO:0012764","DOID:0090113","OMIM:611943","orphanet:420741","EFO:0009055","UMLS:C2677792","MESH:C567453","SNOMEDCT:783099001","medgen:394368"],"information_content":100.0}
{"id":"MONDO:0012765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 2","inheritance":"Typified by incomplete penetrance","equivalent_identifiers":["MONDO:0012765","DOID:0070211","OMIM:611944","UMLS:C2677787","UMLS:C4747568","MESH:C567452","medgen:1648459"],"information_content":100.0}
{"id":"MONDO:0012766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 37","equivalent_identifiers":["MONDO:0012766","DOID:0110788","OMIM:611945","orphanet:171612","UMLS:C2936880","MESH:C567931","SNOMEDCT:763369007","medgen:422458"],"information_content":100.0}
{"id":"MONDO:0012767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 11","equivalent_identifiers":["MONDO:0012767","DOID:0110023","OMIM:611953","UMLS:C2677774","MESH:C567450","medgen:393833"],"information_content":100.0}
{"id":"MONDO:0012771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asthma-related traits, susceptibility to, 7","equivalent_identifiers":["MONDO:0012771","OMIM:611960","UMLS:C2677770","medgen:394362"],"information_content":100.0}
{"id":"MONDO:0012772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stevenson-Carey syndrome","equivalent_identifiers":["MONDO:0012772","OMIM:611961","UMLS:C2677763","MESH:C567446","medgen:383183"],"information_content":100.0}
{"id":"MONDO:0012773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hunter-Macdonald syndrome","equivalent_identifiers":["MONDO:0012773","OMIM:611962","UMLS:C2677745","MESH:C567445","medgen:383181"],"information_content":100.0}
{"id":"MONDO:0012774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 15q13.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0012774","DOID:0060394","OMIM:612001","orphanet:199318","UMLS:C2677613","MESH:C567439","MEDDRA:10090652","SNOMEDCT:699254009","medgen:393784"],"information_content":100.0}
{"id":"MONDO:0012775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 4","equivalent_identifiers":["MONDO:0012775","OMIM:612004","UMLS:C2677608","MESH:C567438","medgen:394329"],"information_content":100.0}
{"id":"MONDO:0012783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RFT1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0012783","DOID:0080566","OMIM:612015","orphanet:244310","UMLS:C2677590","MESH:C567437","SNOMEDCT:733084000","medgen:383145"],"information_content":100.0}
{"id":"MONDO:0012784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive ataxia due to ubiquinone deficiency","equivalent_identifiers":["MONDO:0012784","DOID:0070241","OMIM:612016","orphanet:139485","UMLS:C2677589","MESH:C567436","SNOMEDCT:725394006","medgen:436985"],"information_content":100.0}
{"id":"MONDO:0012786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 47","equivalent_identifiers":["MONDO:0012786","DOID:0070353","OMIM:612018","orphanet:247794","UMLS:C2677587","UMLS:C4302529","UMLS:C4310806","MESH:C567434","SNOMEDCT:722457005","medgen:934773"],"information_content":100.0}
{"id":"MONDO:0012787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 39","equivalent_identifiers":["MONDO:0012787","DOID:0110790","OMIM:612020","orphanet:139480","UMLS:C2677586","MESH:C567433","SNOMEDCT:719103009","medgen:383142"],"information_content":95.4}
{"id":"MONDO:0012789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 16","equivalent_identifiers":["MONDO:0012789","DOID:0090048","OMIM:612067","orphanet:210571","UMLS:C2677567","MESH:C567430","NCIT:C168729","SNOMEDCT:722435003","medgen:436979","icd11.foundation:548945828"],"information_content":100.0}
{"id":"MONDO:0012790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 10","equivalent_identifiers":["MONDO:0012790","DOID:0060201","OMIM:612069","UMLS:C2677565","UMLS:C3148872","UMLS:C3150169","UMLS:C3150171","MESH:C567429","NCIT:C168752","SNOMEDCT:1208412003","medgen:383137"],"information_content":100.0}
{"id":"MONDO:0012791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","equivalent_identifiers":["MONDO:0012791","DOID:0080124","OMIM:612073","orphanet:1933","UMLS:C2749864","UMLS:C3501372","UMLS:C3711369","MESH:C567624","MESH:C580473","SNOMEDCT:1197052008","medgen:413170"],"information_content":100.0}
{"id":"MONDO:0012792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 8a","equivalent_identifiers":["MONDO:0012792","DOID:0070331","DOID:0080127","OMIM:604712","OMIM:612075","orphanet:255235","EFO:0022093","UMLS:C2749861","UMLS:C2749862","UMLS:C3150172","SNOMEDCT:765100000","medgen:412815"],"information_content":100.0}
{"id":"MONDO:0012793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypouricemia, renal, 2","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0012793","OMIM:612076","UMLS:C2677549","UMLS:C2677550","UMLS:C2677551","MESH:C567426","medgen:436974"],"information_content":100.0}
{"id":"MONDO:0012794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ANE syndrome","equivalent_identifiers":["MONDO:0012794","DOID:0112244","OMIM:612079","orphanet:157954","UMLS:C2677535","MESH:C567425","SNOMEDCT:770941005","medgen:394313"],"information_content":100.0}
{"id":"MONDO:0012795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemic rickets and hyperparathyroidism","equivalent_identifiers":["MONDO:0012795","OMIM:612089","UMLS:C2677524","MESH:C567423","medgen:383131"],"information_content":100.0}
{"id":"MONDO:0012796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 41","equivalent_identifiers":["MONDO:0012796","DOID:0110376","OMIM:612095","UMLS:C2677516","MESH:C567422","medgen:383126"],"information_content":100.0}
{"id":"MONDO:0012797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otosclerosis 8","equivalent_identifiers":["MONDO:0012797","DOID:0060926","OMIM:612096","UMLS:C2677515","MESH:C567421","medgen:436965"],"information_content":100.0}
{"id":"MONDO:0012798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, unilateral, with delayed endolymphatic hydrops","equivalent_identifiers":["MONDO:0012798","OMIM:612097","UMLS:C2677512","MESH:C567420","medgen:393762"],"information_content":100.0}
{"id":"MONDO:0012799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 11","equivalent_identifiers":["MONDO:0012799","DOID:0110317","OMIM:612098","UMLS:C2677506","MESH:C567419","NCIT:C188990","medgen:436962"],"information_content":100.0}
{"id":"MONDO:0012801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, 15","equivalent_identifiers":["MONDO:0012801","OMIM:612100","UMLS:C2677504","medgen:394302"],"information_content":100.0}
{"id":"MONDO:0012802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculoauricular syndrome","equivalent_identifiers":["MONDO:0012802","DOID:0060482","OMIM:612109","orphanet:157962","UMLS:C2677500","MESH:C567416","medgen:393758"],"information_content":100.0}
{"id":"MONDO:0012803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diarrhea-vomiting due to trehalase deficiency","equivalent_identifiers":["MONDO:0012803","OMIM:612119","orphanet:103909","UMLS:C0268187","MESH:C562603","SNOMEDCT:84193000","medgen:75660","icd11.foundation:2025219157"],"information_content":100.0}
{"id":"MONDO:0012804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 12","equivalent_identifiers":["MONDO:0012804","DOID:0110318","OMIM:612124","UMLS:C2677491","medgen:393755"],"information_content":100.0}
{"id":"MONDO:0012805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dystonia 18","equivalent_identifiers":["MONDO:0012805","DOID:0090045","OMIM:612126","orphanet:98811","UMLS:C1842534","MESH:C564288","SNOMEDCT:724072002","medgen:330866"],"information_content":100.0}
{"id":"MONDO:0012806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia and immunodeficiency 2","equivalent_identifiers":["MONDO:0012806","DOID:0081079","OMIM:612132","UMLS:C2677481","MESH:C567411","NCIT:C176826","medgen:394295"],"information_content":100.0}
{"id":"MONDO:0012807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 5C, with pyloric atresia","equivalent_identifiers":["MONDO:0012807","OMIM:612138","orphanet:158684","UMLS:C2677349","MESH:C567408","SNOMEDCT:716701004","medgen:436922"],"information_content":100.0}
{"id":"MONDO:0012808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1AA","equivalent_identifiers":["MONDO:0012808","DOID:0110428","OMIM:612158","UMLS:C2677338","UMLS:C4225403","MESH:C567407","medgen:393713"],"information_content":100.0}
{"id":"MONDO:0012809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"histiocytoma, Angiomatoid fibrous","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0012809","OMIM:612160","orphanet:569164","UMLS:C1266127","MESH:C563181","NCIT:C6494","SNOMEDCT:128744003","SNOMEDCT:1293020005","medgen:226845"],"information_content":84.8}
{"id":"MONDO:0012812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 4","equivalent_identifiers":["MONDO:0012812","DOID:0080436","OMIM:612164","orphanet:599373","UMLS:C2677326","MESH:C567404","NCIT:C162472","SNOMEDCT:768666006","medgen:436917"],"information_content":100.0}
{"id":"MONDO:0012813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 29","equivalent_identifiers":["MONDO:0012813","DOID:0110378","OMIM:612165","UMLS:C2677325","MESH:C567403","medgen:393710"],"information_content":100.0}
{"id":"MONDO:0012814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diastasis recti and weakness of the linea alba","equivalent_identifiers":["MONDO:0012814","OMIM:612198","UMLS:C2677303","MESH:C567402","medgen:394255"],"information_content":100.0}
{"id":"MONDO:0012815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coats plus syndrome","equivalent_identifiers":["MONDO:0012815","OMIM.PS:612199","orphanet:313838","UMLS:C2677299","MESH:C567401","SNOMEDCT:711482008","medgen:383079"],"information_content":90.9}
{"id":"MONDO:0012816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 6","equivalent_identifiers":["MONDO:0012816","OMIM:612201","UMLS:C2677294","MESH:C567400","medgen:394252"],"information_content":100.0}
{"id":"MONDO:0012817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ewing sarcoma","equivalent_identifiers":["MONDO:0012817","DOID:3369","OMIM:612219","orphanet:319","EFO:0000174","UMLS:C0553580","UMLS:C0796547","UMLS:C0863029","UMLS:C1334408","MESH:D012512","MEDDRA:10015560","MEDDRA:10015561","MEDDRA:10015563","MEDDRA:10015565","MEDDRA:10015566","MEDDRA:10015567","MEDDRA:10015570","MEDDRA:10058254","MEDDRA:10062425","NCIT:C27901","NCIT:C27903","NCIT:C4817","NCIT:C7806","SNOMEDCT:76909002","medgen:107816","icd11.foundation:458106328","HP:0012254"],"information_content":78.5}
{"id":"MONDO:0012818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 9","equivalent_identifiers":["MONDO:0012818","DOID:0111107","OMIM:612225","UMLS:C2677132","MESH:C567393","SNOMEDCT:609576002","medgen:383033"],"information_content":100.0}
{"id":"MONDO:0012819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetic ketoacidosis","equivalent_identifiers":["MONDO:0012819","DOID:1837","EFO:1000897","UMLS:C0011880","MESH:D016883","MEDDRA:10000488","MEDDRA:10012622","MEDDRA:10012632","MEDDRA:10012642","MEDDRA:10012671","MEDDRA:10012673","MEDDRA:10023380","NCIT:C50530","SNOMEDCT:420422005","medgen:8351","ICD9:250.1","HP:0001953"],"information_content":95.4}
{"id":"MONDO:0012824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelinating leukodystrophy 4","equivalent_identifiers":["MONDO:0012824","DOID:0060789","OMIM:612233","orphanet:280288","UMLS:C2677109","MESH:C567390","SNOMEDCT:870284000","medgen:383026"],"information_content":100.0}
{"id":"MONDO:0012825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extraskeletal myxoid chondrosarcoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0012825","DOID:4549","OMIM:612237","orphanet:209916","UMLS:C1275278","MESH:C563195","MEDDRA:10015838","MEDDRA:10015839","MEDDRA:10015842","MEDDRA:10015846","MEDDRA:10073134","NCIT:C27502","SNOMEDCT:404079008","medgen:220892"],"information_content":81.3}
{"id":"MONDO:0012828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 7","equivalent_identifiers":["MONDO:0012828","OMIM:612240","UMLS:C2677106","MESH:C567389","medgen:393658"],"information_content":100.0}
{"id":"MONDO:0012830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 10q23 deletion syndrome","equivalent_identifiers":["MONDO:0012830","DOID:0050787","DOID:0060389","OMIM:174900","OMIM:612242","orphanet:276413","UMLS:C0345893","UMLS:C1832940","UMLS:C1868081","UMLS:C2677102","UMLS:C4225669","MESH:C537702","MESH:C567385","MEDDRA:10089326","NCIT:C7754","SNOMEDCT:9273005","medgen:906099"],"information_content":87.2}
{"id":"MONDO:0012831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 13","equivalent_identifiers":["MONDO:0012831","DOID:0110893","OMIM:612244","UMLS:C2677101","MESH:C567384","medgen:394202"],"information_content":100.0}
{"id":"MONDO:0012832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 14","equivalent_identifiers":["MONDO:0012832","DOID:0110895","OMIM:612245","UMLS:C2677100","MESH:C567383","medgen:436860"],"information_content":100.0}
{"id":"MONDO:0012833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crouzon syndrome-acanthosis nigricans syndrome","equivalent_identifiers":["MONDO:0012833","DOID:0111161","OMIM:612247","orphanet:93262","UMLS:C0403592","UMLS:C2677099","MESH:C567382","MEDDRA:10063209","NCIT:C38145","SNOMEDCT:236578006","SNOMEDCT:702361006","medgen:394201"],"information_content":100.0}
{"id":"MONDO:0012834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic lupus erythematosus, susceptibility to, 10","equivalent_identifiers":["MONDO:0012834","OMIM:612251","UMLS:C2677097","medgen:436859"],"information_content":100.0}
{"id":"MONDO:0012835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic lupus erythematosus, susceptibility to, 11","equivalent_identifiers":["MONDO:0012835","OMIM:612253","UMLS:C2677096","medgen:393656"],"information_content":100.0}
{"id":"MONDO:0012839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyogenic bacterial infections due to MyD88 deficiency","equivalent_identifiers":["MONDO:0012839","OMIM:612260","UMLS:C2677092","MESH:C567379","medgen:383023","icd11.foundation:444523526"],"information_content":100.0}
{"id":"MONDO:0012840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 17","equivalent_identifiers":["MONDO:0012840","DOID:0110883","OMIM:612261","UMLS:C2677091","MESH:C567378","medgen:436857"],"information_content":100.0}
{"id":"MONDO:0012843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, childhood absence, susceptibility to, 5","equivalent_identifiers":["MONDO:0012843","OMIM:612269","UMLS:C2677087","medgen:393654"],"information_content":100.0}
{"id":"MONDO:0012845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 19","equivalent_identifiers":["MONDO:0012845","DOID:0110890","OMIM:612278","UMLS:C2677079","MESH:C567372","medgen:393652"],"information_content":100.0}
{"id":"MONDO:0012847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis 6","equivalent_identifiers":["MONDO:0012847","DOID:0060715","OMIM:612281","UMLS:C2677065","medgen:436851"],"information_content":100.0}
{"id":"MONDO:0012848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 6","equivalent_identifiers":["MONDO:0012848","DOID:0070120","OMIM:612284","UMLS:C2676790","MESH:C567365","medgen:382942"],"information_content":100.0}
{"id":"MONDO:0012849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 9","equivalent_identifiers":["MONDO:0012849","DOID:0111004","OMIM:612285","UMLS:C2676788","UMLS:C3280898","MESH:C567364","NCIT:C181002","medgen:382940"],"information_content":100.0}
{"id":"MONDO:0012850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemic nephrolithiasis/osteoporosis 1","equivalent_identifiers":["MONDO:0012850","DOID:0080077","OMIM:612286","UMLS:C2676786","MESH:C567363","medgen:436776"],"information_content":100.0}
{"id":"MONDO:0012851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemic nephrolithiasis/osteoporosis 2","equivalent_identifiers":["MONDO:0012851","DOID:0080078","OMIM:612287","UMLS:C2676782","MESH:C567362","medgen:394127"],"information_content":100.0}
{"id":"MONDO:0012853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fontaine progeroid syndrome","equivalent_identifiers":["MONDO:0012853","OMIM:612289","orphanet:2095","orphanet:2963","UMLS:C2676780","UMLS:C5848089","MESH:C537290","MESH:C567360","SNOMEDCT:205800003","SNOMEDCT:770567006","medgen:394125"],"information_content":100.0}
{"id":"MONDO:0012854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral microtia-deafness-cleft palate syndrome","equivalent_identifiers":["MONDO:0012854","OMIM:612290","orphanet:140963","UMLS:C2676772","UMLS:C3808166","MESH:C567359","medgen:382936"],"information_content":100.0}
{"id":"MONDO:0012855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 8","equivalent_identifiers":["MONDO:0012855","DOID:0111003","OMIM:612291","UMLS:C2676771","MESH:C567358","medgen:436772"],"information_content":100.0}
{"id":"MONDO:0012856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Birk-Barel syndrome","equivalent_identifiers":["MONDO:0012856","DOID:0050675","OMIM:612292","orphanet:166108","UMLS:C2676770","MESH:C567357","SNOMEDCT:764861005","medgen:393583"],"information_content":100.0}
{"id":"MONDO:0012858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CD59 Deficiency","equivalent_identifiers":["MONDO:0012858","OMIM:612300","orphanet:169464","UMLS:C2676767","MESH:C567355","medgen:393582"],"information_content":100.0}
{"id":"MONDO:0012859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive osteopetrosis 7","equivalent_identifiers":["MONDO:0012859","DOID:0110946","OMIM:612301","orphanet:178389","UMLS:C2676766","MESH:C567354","medgen:436770","ICD10:Q78.2"],"information_content":100.0}
{"id":"MONDO:0012860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia due to protein C deficiency, autosomal recessive","equivalent_identifiers":["MONDO:0012860","DOID:0111904","OMIM:612304","UMLS:C2676759","MESH:C567353","medgen:394120"],"information_content":100.0}
{"id":"MONDO:0012861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 6","equivalent_identifiers":["MONDO:0012861","DOID:0080863","OMIM:612310","UMLS:C2676742","MESH:C567351","medgen:394115"],"information_content":100.0}
{"id":"MONDO:0012864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 2q32-q33 deletion syndrome","equivalent_identifiers":["MONDO:0012864","DOID:0060428","OMIM:612313","orphanet:251019","orphanet:576283","UMLS:C2676739","UMLS:C4304531","MESH:C567350","SNOMEDCT:719659003","medgen:436765"],"information_content":100.0}
{"id":"MONDO:0012865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pseudofolliculitis barbae","equivalent_identifiers":["MONDO:0012865","OMIM:612318","UMLS:C0549150","MESH:C563016","MEDDRA:10037120","MEDDRA:10074452","SNOMEDCT:399205006","medgen:107807","icd11.foundation:336055701"],"information_content":100.0}
{"id":"MONDO:0012866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 35","equivalent_identifiers":["MONDO:0012866","DOID:0110786","OMIM:612319","orphanet:171629","UMLS:C3496228","MESH:C567311","SNOMEDCT:764688002","medgen:501249"],"information_content":100.0}
{"id":"MONDO:0012867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 38","equivalent_identifiers":["MONDO:0012867","DOID:0110789","OMIM:612335","orphanet:171617","UMLS:C2676732","MESH:C567349","SNOMEDCT:783622001","medgen:436764"],"information_content":100.0}
{"id":"MONDO:0012868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia due to protein S deficiency, autosomal dominant","equivalent_identifiers":["MONDO:0012868","DOID:0111900","OMIM:612336","orphanet:26349","UMLS:C2363755","UMLS:C3278211","MESH:C567077","MEDDRA:10068370","SNOMEDCT:1217409009","medgen:479841"],"information_content":100.0}
{"id":"MONDO:0012869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 22","equivalent_identifiers":["MONDO:0012869","DOID:0070052","OMIM:612337","UMLS:C2676727","MESH:C567346"],"information_content":100.0}
{"id":"MONDO:0012871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jervell and Lange-Nielsen syndrome 2","equivalent_identifiers":["MONDO:0012871","OMIM:612347","UMLS:C2676723","MESH:C567343","medgen:394108"],"information_content":100.0}
{"id":"MONDO:0012872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia, familial, due to decreased release of tissue plasminogen activator","equivalent_identifiers":["MONDO:0012872","DOID:0111906","OMIM:612348","UMLS:C2676721","UMLS:C2676722","MESH:C567341","medgen:393574"],"information_content":100.0}
{"id":"MONDO:0012873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, spondylocheirodysplastic type","equivalent_identifiers":["MONDO:0012873","DOID:0080739","OMIM:612350","orphanet:157965","UMLS:C2676510","MESH:C567340","SNOMEDCT:773276004","medgen:393515","icd11.foundation:1653521697"],"information_content":100.0}
{"id":"MONDO:0012874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis 6, disseminated superficial actinic type","equivalent_identifiers":["MONDO:0012874","OMIM:612353","UMLS:C2676508","MESH:C567339","medgen:394063"],"information_content":100.0}
{"id":"MONDO:0012875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 21","equivalent_identifiers":["MONDO:0012875","DOID:0110906","OMIM:612354","UMLS:C2676507","MESH:C567338","medgen:436705"],"information_content":100.0}
{"id":"MONDO:0012876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heparin cofactor 2 deficiency","equivalent_identifiers":["MONDO:0012876","DOID:0111901","OMIM:612356","UMLS:C0398626","MESH:C562865","MEDDRA:10087332","SNOMEDCT:234468009","medgen:96017"],"information_content":100.0}
{"id":"MONDO:0012880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 5 with or without anosmia","equivalent_identifiers":["MONDO:0012880","DOID:0090084","OMIM:612370","UMLS:C2675302","UMLS:C3552553","MESH:C567220","medgen:765467"],"information_content":100.0}
{"id":"MONDO:0012881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"major affective disorder 7","equivalent_identifiers":["MONDO:0012881","OMIM:612371","UMLS:C2700438","MESH:C567529","medgen:438008"],"information_content":100.0}
{"id":"MONDO:0012883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute promyelocytic leukemia","equivalent_identifiers":["MONDO:0012883","DOID:0060318","DOID:0081081","OMIM:612376","orphanet:520","EFO:0000224","UMLS:C0023487","UMLS:C5961168","MESH:D015473","MEDDRA:10001019","MEDDRA:10001020","NCIT:C3182","SNOMEDCT:110004001","SNOMEDCT:28950004","medgen:44127","ICD10:C92.4","HP:0004836"],"information_content":77.8}
{"id":"MONDO:0012885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SRD5A3-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0012885","DOID:0080568","OMIM:612379","orphanet:324737","UMLS:C4317224","MESH:C567328","SNOMEDCT:733601006","medgen:1392124"],"information_content":100.0}
{"id":"MONDO:0012888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sarcoidosis, susceptibility to, 2","equivalent_identifiers":["MONDO:0012888","OMIM:612387","UMLS:C2676468","medgen:436694"],"information_content":100.0}
{"id":"MONDO:0012890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 2B","equivalent_identifiers":["MONDO:0012890","DOID:0060268","OMIM:612389","UMLS:C2676466","MESH:C567325","medgen:393505"],"information_content":100.0}
{"id":"MONDO:0012891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 2C","equivalent_identifiers":["MONDO:0012891","DOID:0060269","OMIM:612390","UMLS:C2676465","MESH:C567324","medgen:382856"],"information_content":100.0}
{"id":"MONDO:0012892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone fragility with contractures, arterial rupture, and deafness","equivalent_identifiers":["MONDO:0012892","OMIM:612394","orphanet:300284","UMLS:C2676285","UMLS:C4706393","MESH:C567320","SNOMEDCT:763318007","medgen:382811"],"information_content":100.0}
{"id":"MONDO:0012893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoarthritis susceptibility 5","equivalent_identifiers":["MONDO:0012893","OMIM:612400","UMLS:C0263772","UMLS:C4759728","SNOMEDCT:239872002","medgen:1674605"],"information_content":100.0}
{"id":"MONDO:0012895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsion dystonia 17","equivalent_identifiers":["MONDO:0012895","DOID:0090042","OMIM:612406","orphanet:370103","UMLS:C2676281","MESH:C567319","medgen:391003"],"information_content":100.0}
{"id":"MONDO:0012897","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital factor XI deficiency","equivalent_identifiers":["MONDO:0012897","DOID:2229","OMIM:612416","orphanet:329","UMLS:C0015523","UMLS:C4317093","MEDDRA:10010469","MEDDRA:10016082","MEDDRA:10018940","MEDDRA:10060615","NCIT:C84705","SNOMEDCT:49762007","medgen:8770","icd11.foundation:413739466","ICD10:D68.1","ICD9:286.2","HP:0001929"],"information_content":92.8}
{"id":"MONDO:0012900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, familial restrictive, 3","equivalent_identifiers":["MONDO:0012900","DOID:0111427","OMIM:612422","UMLS:C2676271","MESH:C567316","medgen:382807"],"information_content":100.0}
{"id":"MONDO:0012901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited prekallikrein deficiency","equivalent_identifiers":["MONDO:0012901","OMIM:612423","orphanet:749","MESH:C562725"],"information_content":100.0}
{"id":"MONDO:0012902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 27","equivalent_identifiers":["MONDO:0012902","DOID:0110556","OMIM:612431","UMLS:C3887929","medgen:854637"],"information_content":100.0}
{"id":"MONDO:0012903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 45","equivalent_identifiers":["MONDO:0012903","DOID:0110502","OMIM:612433","UMLS:C3888030","medgen:854732"],"information_content":100.0}
{"id":"MONDO:0012904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, progressive myoclonic, 1B","equivalent_identifiers":["MONDO:0012904","DOID:0111448","OMIM:612437","UMLS:C2676254","MESH:C580388","SNOMEDCT:702326000","medgen:394003"],"information_content":100.0}
{"id":"MONDO:0012905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelinating leukodystrophy 6","equivalent_identifiers":["MONDO:0012905","DOID:0060798","OMIM:612438","orphanet:139441","UMLS:C2676244","MESH:C567314","NCIT:C183310","SNOMEDCT:724283004","medgen:436642"],"information_content":100.0}
{"id":"MONDO:0012906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 9","equivalent_identifiers":["MONDO:0012906","DOID:0110622","OMIM:612444","UMLS:C2676235","MESH:C567310","medgen:390990"],"information_content":100.0}
{"id":"MONDO:0012907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blindness - scoliosis - arachnodactyly syndrome","equivalent_identifiers":["MONDO:0012907","OMIM:612445","orphanet:171844","UMLS:C2676234","UMLS:C4303548","MESH:C567309","SNOMEDCT:717920004","medgen:436640"],"information_content":100.0}
{"id":"MONDO:0012908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement component 6 deficiency","equivalent_identifiers":["MONDO:0012908","DOID:0060299","OMIM:612446","UMLS:C2676232","UMLS:C2676233","MESH:C567307","MESH:C567308","medgen:436639"],"information_content":100.0}
{"id":"MONDO:0012909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal defects, genital hypoplasia, and intellectual disability","equivalent_identifiers":["MONDO:0012909","OMIM:612447","UMLS:C2676231","MESH:C567306","medgen:382795"],"information_content":100.0}
{"id":"MONDO:0012911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoparathyroidism type 1C","equivalent_identifiers":["MONDO:0012911","DOID:0051013","OMIM:612462","orphanet:79444","UMLS:C2932716","MESH:C548076","SNOMEDCT:717792007","medgen:420958","icd11.foundation:1401673748"],"information_content":100.0}
{"id":"MONDO:0012912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudopseudohypoparathyroidism","equivalent_identifiers":["MONDO:0012912","DOID:4183","OMIM:612463","orphanet:79445","UMLS:C0033835","MESH:D011556","MEDDRA:10090584","NCIT:C129722","SNOMEDCT:237659007","medgen:10995","icd11.foundation:245649135"],"information_content":100.0}
{"id":"MONDO:0012914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 1q21.1 deletion syndrome","equivalent_identifiers":["MONDO:0012914","DOID:0060411","OMIM:612474","orphanet:250989","UMLS:C2675897","MESH:C567291","SNOMEDCT:699305004","medgen:393913"],"information_content":100.0}
{"id":"MONDO:0012915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 1q21.1 duplication syndrome","equivalent_identifiers":["MONDO:0012915","DOID:0060435","OMIM:612475","orphanet:250994","UMLS:C2675891","MESH:C567290","medgen:382715"],"information_content":100.0}
{"id":"MONDO:0012916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 2p16.1-p15 deletion syndrome","equivalent_identifiers":["MONDO:0012916","DOID:0060415","OMIM:612513","orphanet:261349","UMLS:C2675875","UMLS:C4304538","MESH:C567289","SNOMEDCT:719651000","medgen:390902"],"information_content":100.0}
{"id":"MONDO:0012918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 10","equivalent_identifiers":["MONDO:0012918","DOID:0110612","OMIM:612518","UMLS:C2675867","MESH:C567287","medgen:382707"],"information_content":100.0}
{"id":"MONDO:0012919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 20","equivalent_identifiers":["MONDO:0012919","DOID:0110757","OMIM:612520","UMLS:C2675866","MESH:C567286","medgen:382706"],"information_content":100.0}
{"id":"MONDO:0012921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 22","equivalent_identifiers":["MONDO:0012921","DOID:0110759","OMIM:612522","UMLS:C2675864","MESH:C567284","medgen:390900"],"information_content":100.0}
{"id":"MONDO:0012923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital generalized lipodystrophy type 3","equivalent_identifiers":["MONDO:0012923","DOID:0111137","OMIM:612526","UMLS:C2675861","MESH:C567282","medgen:436541"],"information_content":100.0}
{"id":"MONDO:0012924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 4","equivalent_identifiers":["MONDO:0012924","DOID:0111890","OMIM:612527","UMLS:C2675860","MESH:C567281","NCIT:C176913","medgen:393906"],"information_content":100.0}
{"id":"MONDO:0012925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 5","equivalent_identifiers":["MONDO:0012925","DOID:0111883","OMIM:612528","UMLS:C2675859","MESH:C567280","NCIT:C176914","medgen:382705"],"information_content":100.0}
{"id":"MONDO:0012926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta hypomaturation type 2A2","equivalent_identifiers":["MONDO:0012926","DOID:0110060","OMIM:612529","UMLS:C2675858","MESH:C567279","medgen:436540"],"information_content":100.0}
{"id":"MONDO:0012927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 1q41-q42 deletion syndrome","equivalent_identifiers":["MONDO:0012927","DOID:0060412","OMIM:612530","orphanet:250999","UMLS:C2675857","UMLS:C4274528","MESH:C567278","SNOMEDCT:716515000","medgen:382704"],"information_content":100.0}
{"id":"MONDO:0012928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 42","equivalent_identifiers":["MONDO:0012928","DOID:0110794","OMIM:612539","orphanet:171863","UMLS:C2675528","MESH:C567262","SNOMEDCT:763070001","medgen:393407"],"information_content":100.0}
{"id":"MONDO:0012929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Compton-North congenital myopathy","equivalent_identifiers":["MONDO:0012929","DOID:0080101","OMIM:612540","orphanet:210163","UMLS:C2675527","MESH:C567261","medgen:393406"],"information_content":100.0}
{"id":"MONDO:0012930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dursun Syndrome","equivalent_identifiers":["MONDO:0012930","DOID:0112136","OMIM:612541","orphanet:331176","UMLS:C2751630","MESH:C567260","MEDDRA:10090065","NCIT:C176611","SNOMEDCT:783058007","medgen:414066"],"information_content":100.0}
{"id":"MONDO:0012931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal segmental glomerulosclerosis 4, susceptibility to","equivalent_identifiers":["MONDO:0012931","OMIM:612551","UMLS:C2675525","medgen:390820"],"information_content":100.0}
{"id":"MONDO:0012937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 6","equivalent_identifiers":["MONDO:0012937","DOID:0111879","OMIM:612561","UMLS:C2931850","MESH:C538442","NCIT:C176915","medgen:419918"],"information_content":100.0}
{"id":"MONDO:0012938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 7","equivalent_identifiers":["MONDO:0012938","DOID:0111878","OMIM:612562","UMLS:C2675512","MESH:C567254","NCIT:C176916","medgen:436451"],"information_content":100.0}
{"id":"MONDO:0012939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 8","equivalent_identifiers":["MONDO:0012939","DOID:0111881","OMIM:612563","UMLS:C2675511","MESH:C567253","NCIT:C176917","medgen:390817"],"information_content":100.0}
{"id":"MONDO:0012941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 25","equivalent_identifiers":["MONDO:0012941","DOID:0110909","OMIM:612567","UMLS:C2675508","MESH:C567251","medgen:393403"],"information_content":100.0}
{"id":"MONDO:0012943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 46","equivalent_identifiers":["MONDO:0012943","DOID:0110409","OMIM:612572","UMLS:C2675496","MESH:C567249","medgen:382614"],"information_content":100.0}
{"id":"MONDO:0012944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 17P13.3, telomeric, duplication syndrome","equivalent_identifiers":["MONDO:0012944","OMIM:612576","UMLS:C2675492","MESH:C567245","medgen:390813"],"information_content":100.0}
{"id":"MONDO:0012945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 11","equivalent_identifiers":["MONDO:0012945","DOID:0060202","OMIM:612577","UMLS:C2675491","MESH:C567244","NCIT:C168753","medgen:393399"],"information_content":100.0}
{"id":"MONDO:0012946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 3","equivalent_identifiers":["MONDO:0012946","DOID:0070033","OMIM:612580","UMLS:C2675488","MESH:C567241","medgen:436447"],"information_content":100.0}
{"id":"MONDO:0012947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 4","equivalent_identifiers":["MONDO:0012947","DOID:0070034","OMIM:612581","UMLS:C2675487","MESH:C567240","medgen:393397"],"information_content":100.0}
{"id":"MONDO:0012948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 6pter-p24 deletion syndrome","equivalent_identifiers":["MONDO:0012948","DOID:0060422","OMIM:612582","orphanet:96125","UMLS:C2675486","UMLS:C4305276","MESH:C567239","SNOMEDCT:718688008","medgen:393396"],"information_content":100.0}
{"id":"MONDO:0012960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 5","equivalent_identifiers":["MONDO:0012960","DOID:0070035","OMIM:612621","orphanet:544254","UMLS:C2675473","MESH:C567234","NCIT:C178414","SNOMEDCT:1222656005","medgen:382611"],"information_content":100.0}
{"id":"MONDO:0012962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microvascular complications of diabetes, susceptibility to, 2","equivalent_identifiers":["MONDO:0012962","OMIM:612623","UMLS:C2675471","medgen:436442"],"information_content":100.0}
{"id":"MONDO:0012963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microvascular complications of diabetes, susceptibility to, 3","equivalent_identifiers":["MONDO:0012963","OMIM:612624","UMLS:C2675470","medgen:390806"],"information_content":100.0}
{"id":"MONDO:0012964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 15q26-qter deletion syndrome","equivalent_identifiers":["MONDO:0012964","DOID:0060397","OMIM:612626","orphanet:1596","UMLS:C2675463","UMLS:C4707662","MESH:C567232","SNOMEDCT:766050000","medgen:390804"],"information_content":100.0}
{"id":"MONDO:0012966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microvascular complications of diabetes, susceptibility to, 4","equivalent_identifiers":["MONDO:0012966","OMIM:612628","UMLS:C2675112","medgen:382527"],"information_content":100.0}
{"id":"MONDO:0012967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic anemia due to adenylate kinase deficiency","equivalent_identifiers":["MONDO:0012967","DOID:0051004","OMIM:612631","orphanet:86817","UMLS:C2675459","MESH:C567228","SNOMEDCT:766982000","medgen:390802"],"information_content":100.0}
{"id":"MONDO:0012969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microvascular complications of diabetes, susceptibility to, 5","equivalent_identifiers":["MONDO:0012969","OMIM:612633","UMLS:C2674665","medgen:436225"],"information_content":100.0}
{"id":"MONDO:0012970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microvascular complications of diabetes, susceptibility to, 6","equivalent_identifiers":["MONDO:0012970","OMIM:612634","UMLS:C2675128","medgen:382533"],"information_content":100.0}
{"id":"MONDO:0012974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 59","equivalent_identifiers":["MONDO:0012974","DOID:0110583","OMIM:612642","UMLS:C2675238","MESH:C567216","medgen:390743"],"information_content":100.0}
{"id":"MONDO:0012975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 3B","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0012975","DOID:0110565","OMIM:612643","UMLS:C2675237","MESH:C567215","medgen:436382"],"information_content":100.0}
{"id":"MONDO:0012976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 2B","equivalent_identifiers":["MONDO:0012976","DOID:0110559","OMIM:612644","UMLS:C2675236","MESH:C567214","medgen:390742"],"information_content":100.0}
{"id":"MONDO:0012977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 1B","equivalent_identifiers":["MONDO:0012977","DOID:0110476","OMIM:612645","UMLS:C2675235","MESH:C567213","medgen:436381"],"information_content":100.0}
{"id":"MONDO:0012978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 11","equivalent_identifiers":["MONDO:0012978","DOID:0110602","OMIM:612649","UMLS:C2675229","MESH:C567212","medgen:390741"],"information_content":100.0}
{"id":"MONDO:0012979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 12","equivalent_identifiers":["MONDO:0012979","DOID:0110601","OMIM:612650","UMLS:C2675228","MESH:C567211","medgen:436379"],"information_content":100.0}
{"id":"MONDO:0012980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endocrine-cerebro-osteodysplasia syndrome","equivalent_identifiers":["MONDO:0012980","DOID:0060641","OMIM:612651","orphanet:199332","UMLS:C2675227","UMLS:C4509819","MESH:C567210","SNOMEDCT:723309006","medgen:390740","icd11.foundation:413985102"],"information_content":100.0}
{"id":"MONDO:0012981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spherocytosis type 4","equivalent_identifiers":["MONDO:0012981","DOID:0110919","OMIM:612653","UMLS:C2675212","MESH:C567208","medgen:436375"],"information_content":100.0}
{"id":"MONDO:0012982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic ataxia type 6","equivalent_identifiers":["MONDO:0012982","DOID:0050994","OMIM:612656","orphanet:209967","UMLS:C2675211","MESH:C567207","SNOMEDCT:718753002","medgen:390739","icd11.foundation:1493336901"],"information_content":100.0}
{"id":"MONDO:0012983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 12","equivalent_identifiers":["MONDO:0012983","DOID:0111019","OMIM:612657","UMLS:C2675210","MESH:C567206","medgen:393334"],"information_content":100.0}
{"id":"MONDO:0012984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PHARC syndrome","equivalent_identifiers":["MONDO:0012984","DOID:0080181","OMIM:612674","orphanet:171848","UMLS:C2675204","UMLS:C4509920","MESH:C567203","SNOMEDCT:723452007","medgen:436373"],"information_content":100.0}
{"id":"MONDO:0012985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spherocytosis type 5","equivalent_identifiers":["MONDO:0012985","DOID:0110920","OMIM:612690","UMLS:C2675192","MESH:C567202","medgen:436371"],"information_content":100.0}
{"id":"MONDO:0012986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral parasagittal parieto-occipital polymicrogyria","equivalent_identifiers":["MONDO:0012986","DOID:0080923","OMIM:612691","orphanet:208441","UMLS:C2675191","UMLS:C4013648","MESH:C567201","medgen:862085","icd11.foundation:293410499"],"information_content":100.0}
{"id":"MONDO:0012987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia 6, autosomal recessive","equivalent_identifiers":["MONDO:0012987","DOID:0081138","OMIM:612692","UMLS:C3150207","medgen:461557"],"information_content":100.0}
{"id":"MONDO:0012988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 6 with or without anosmia","equivalent_identifiers":["MONDO:0012988","DOID:0090086","OMIM:612702","UMLS:C2675188","UMLS:C3552574","MESH:C567199","medgen:765488"],"information_content":100.0}
{"id":"MONDO:0012989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 7, primary, autosomal recessive","equivalent_identifiers":["MONDO:0012989","DOID:0070278","OMIM:612703","UMLS:C2675187","MESH:C567198","medgen:436370"],"information_content":100.0}
{"id":"MONDO:0012990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 13","equivalent_identifiers":["MONDO:0012990","DOID:0110330","OMIM:612712","UMLS:C2675186","MESH:C567197","medgen:382544"],"information_content":100.0}
{"id":"MONDO:0012991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kahrizi syndrome","equivalent_identifiers":["MONDO:0012991","DOID:0050807","OMIM:612713","UMLS:C2675185","MESH:C567196","medgen:382543"],"information_content":100.0}
{"id":"MONDO:0012992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic insufficiency-anemia-hyperostosis syndrome","equivalent_identifiers":["MONDO:0012992","OMIM:612714","orphanet:199337","UMLS:C2675184","MESH:C567195","SNOMEDCT:722207000","medgen:436369"],"information_content":100.0}
{"id":"MONDO:0012994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dopa-responsive dystonia due to sepiapterin reductase deficiency","equivalent_identifiers":["MONDO:0012994","DOID:0111168","OMIM:612716","orphanet:70594","UMLS:C0268468","UMLS:C5550996","MESH:C562657","SNOMEDCT:1187545003","SNOMEDCT:45116002","medgen:120642"],"information_content":100.0}
{"id":"MONDO:0012995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myopia 15","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0012995","OMIM:612717","UMLS:C2675180","MESH:C567193","medgen:393323"],"information_content":100.0}
{"id":"MONDO:0012996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AGAT deficiency","equivalent_identifiers":["MONDO:0012996","DOID:0050712","OMIM:612718","orphanet:35704","UMLS:C2675179","MESH:C567192","MEDDRA:10081857","MEDDRA:10081868","NCIT:C198575","SNOMEDCT:702440000","medgen:436367"],"information_content":100.0}
{"id":"MONDO:0012997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholestasis-pigmentary retinopathy-cleft palate syndrome","equivalent_identifiers":["MONDO:0012997","OMIM:301068","orphanet:1415","UMLS:C0795969","MESH:C535632","SNOMEDCT:720636001","medgen:208652"],"information_content":100.0}
{"id":"MONDO:0012998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"faciocardiomelic syndrome","equivalent_identifiers":["MONDO:0012998","OMIM:612731","UMLS:C2674798","MESH:C567176","medgen:436265"],"information_content":100.0}
{"id":"MONDO:0012999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"guanidinoacetate methyltransferase deficiency","equivalent_identifiers":["MONDO:0012999","DOID:0050799","OMIM:612736","orphanet:382","UMLS:C0574080","MESH:C537622","NCIT:C173468","SNOMEDCT:124239003","medgen:154356","icd11.foundation:1811642217"],"information_content":100.0}
{"id":"MONDO:0013000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porphyria due to ALA dehydratase deficiency","equivalent_identifiers":["MONDO:0013000","OMIM:612740","orphanet:100924","UMLS:C0268328","UMLS:C2748608","MESH:C562618","MEDDRA:10081567","MEDDRA:10088202","NCIT:C133887","SNOMEDCT:64081000","medgen:78659"],"information_content":100.0}
{"id":"MONDO:0013002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 9","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013002","DOID:0111020","OMIM:612775","UMLS:C1423873","medgen:244692"],"information_content":100.0}
{"id":"MONDO:0013003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated congenital hypoglossia/aglossia","equivalent_identifiers":["MONDO:0013003","OMIM:612776","orphanet:141152","UMLS:C2748587","UMLS:C2748588","MESH:C567567","MESH:C567568","medgen:411249"],"information_content":92.8}
{"id":"MONDO:0013005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"EAST syndrome","equivalent_identifiers":["MONDO:0013005","DOID:0060484","OMIM:612780","orphanet:199343","UMLS:C2748572","MESH:C557674","SNOMEDCT:721207002","medgen:411243"],"information_content":100.0}
{"id":"MONDO:0013006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated growth hormone deficiency type IB","equivalent_identifiers":["MONDO:0013006","DOID:0060874","OMIM:612781","orphanet:231671","UMLS:C2748571","MESH:C567564","medgen:411242"],"information_content":100.0}
{"id":"MONDO:0013007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to ORAI1 deficiency","equivalent_identifiers":["MONDO:0013007","DOID:0111976","OMIM:612782","orphanet:317428","UMLS:C2748568","MESH:C557826","medgen:440578","icd11.foundation:677672007"],"information_content":100.0}
{"id":"MONDO:0013008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to STIM1 deficiency","equivalent_identifiers":["MONDO:0013008","DOID:0111970","OMIM:612783","orphanet:317430","UMLS:C2748557","MESH:C557827","medgen:440575","icd11.foundation:8644198"],"information_content":100.0}
{"id":"MONDO:0013010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 71","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013010","DOID:0110522","OMIM:612789","UMLS:C2748554","MESH:C567562","medgen:411609"],"information_content":100.0}
{"id":"MONDO:0013011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 5","equivalent_identifiers":["MONDO:0013011","DOID:0110110","OMIM:612794","UMLS:C2748552","MESH:C567561","medgen:412580"],"information_content":100.0}
{"id":"MONDO:0013013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"question mark ears, isolated","equivalent_identifiers":["MONDO:0013013","OMIM:612798","UMLS:C2748545","medgen:411238"],"information_content":100.0}
{"id":"MONDO:0013014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, aggrecan type","equivalent_identifiers":["MONDO:0013014","OMIM:612813","orphanet:171866","UMLS:C2748544","MESH:C567558","SNOMEDCT:719165004","medgen:411237","icd11.foundation:1133152894"],"information_content":100.0}
{"id":"MONDO:0013015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 5","equivalent_identifiers":["MONDO:0013015","DOID:0110222","OMIM:612838","UMLS:C2748541","MESH:C567556","medgen:411607"],"information_content":100.0}
{"id":"MONDO:0013016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukocyte adhesion deficiency 3","equivalent_identifiers":["MONDO:0013016","DOID:0110912","OMIM:612840","orphanet:99844","UMLS:C2748536","MESH:C567555","NCIT:C154615","SNOMEDCT:1269277004","medgen:411605"],"information_content":100.0}
{"id":"MONDO:0013017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 5","equivalent_identifiers":["MONDO:0013017","DOID:0110702","OMIM:612841","UMLS:C2748535","MESH:C567554","medgen:440568"],"information_content":100.0}
{"id":"MONDO:0013018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis follicularis spinulosa decalvans, autosomal dominant","equivalent_identifiers":["MONDO:0013018","DOID:0080755","OMIM:612843","UMLS:C2748527","MESH:C567553","medgen:412573"],"information_content":100.0}
{"id":"MONDO:0013021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sterile multifocal osteomyelitis with periostitis and pustulosis","equivalent_identifiers":["MONDO:0013021","OMIM:612852","orphanet:210115","UMLS:C2748507","MESH:C557815","MEDDRA:10072224","MEDDRA:10079457","NCIT:C119056","SNOMEDCT:773702002","medgen:411230"],"information_content":100.0}
{"id":"MONDO:0013024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic thromboembolic pulmonary hypertension","equivalent_identifiers":["MONDO:0013024","OMIM:612862","orphanet:70591","UMLS:C2363973","UMLS:C2748504","MEDDRA:10068739","MEDDRA:10068740","NCIT:C197871","SNOMEDCT:233947005","medgen:440560","icd11.foundation:1567490107"],"information_content":100.0}
{"id":"MONDO:0013025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 6q24-q25 deletion syndrome","equivalent_identifiers":["MONDO:0013025","DOID:0060424","OMIM:612863","orphanet:251056","UMLS:C3150215","UMLS:C4304527","SNOMEDCT:719663005","medgen:461565"],"information_content":100.0}
{"id":"MONDO:0013027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior amorphous corneal dystrophy","equivalent_identifiers":["MONDO:0013027","DOID:0060452","OMIM:612868","orphanet:98971","UMLS:C2748502","MESH:C567546","SNOMEDCT:719296002","medgen:412567","icd11.foundation:347556972"],"information_content":100.0}
{"id":"MONDO:0013028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenosine monophosphate deaminase deficiency","equivalent_identifiers":["MONDO:0013028","orphanet:45","UMLS:C0268123","UMLS:C2931781","MESH:C538234","SNOMEDCT:124525004","SNOMEDCT:9105005","medgen:444140","icd11.foundation:550341491"],"information_content":100.0}
{"id":"MONDO:0013030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1BB","equivalent_identifiers":["MONDO:0013030","DOID:0110458","OMIM:612877","UMLS:C2752072","MESH:C567877","medgen:414552"],"information_content":100.0}
{"id":"MONDO:0013032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, idiopathic generalized, susceptibility to, 8","equivalent_identifiers":["MONDO:0013032","OMIM:612899","UMLS:C2752062","medgen:414549"],"information_content":100.0}
{"id":"MONDO:0013033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral palsy, spastic quadriplegic, 2","inheritance":"Autosomal dominant inheritance with maternal imprinting","equivalent_identifiers":["MONDO:0013033","DOID:0081360","OMIM:612900","UMLS:C2752061","MESH:C567867","medgen:442880"],"information_content":100.0}
{"id":"MONDO:0013034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis palmoplantaris striata 2","equivalent_identifiers":["MONDO:0013034","DOID:0081109","OMIM:612908","UMLS:C1852127","MESH:C565102","medgen:343725"],"information_content":100.0}
{"id":"MONDO:0013035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome XI","equivalent_identifiers":["MONDO:0013035","DOID:0060381","OMIM:612913","orphanet:141000","UMLS:C2752048","MESH:C557821","SNOMEDCT:718681002","medgen:416694"],"information_content":100.0}
{"id":"MONDO:0013036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zechi-Ceide syndrome","equivalent_identifiers":["MONDO:0013036","OMIM:612916","orphanet:217017","UMLS:C2752047","MESH:C567865","SNOMEDCT:773307006","medgen:416693"],"information_content":100.0}
{"id":"MONDO:0013037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Giacheti syndrome","equivalent_identifiers":["MONDO:0013037","OMIM:612917","UMLS:C2752043","MESH:C567864","medgen:414543"],"information_content":100.0}
{"id":"MONDO:0013038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CLOVES syndrome","equivalent_identifiers":["MONDO:0013038","DOID:0080351","OMIM:612918","orphanet:140944","UMLS:C2752042","MESH:C567863","MEDDRA:10083945","NCIT:C177122","SNOMEDCT:719475006","medgen:442876"],"information_content":100.0}
{"id":"MONDO:0013039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3M syndrome 2","equivalent_identifiers":["MONDO:0013039","OMIM:612921","UMLS:C2752041","MESH:C567862","medgen:414168"],"information_content":100.0}
{"id":"MONDO:0013040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical hemolytic-uremic syndrome with MCP/CD46 anomaly","equivalent_identifiers":["MONDO:0013040","OMIM:612922","UMLS:C2752040","medgen:414167"],"information_content":100.0}
{"id":"MONDO:0013041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical hemolytic-uremic syndrome with I factor anomaly","equivalent_identifiers":["MONDO:0013041","OMIM:612923","UMLS:C2752039","medgen:414542"],"information_content":100.0}
{"id":"MONDO:0013042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical hemolytic-uremic syndrome with B factor anomaly","equivalent_identifiers":["MONDO:0013042","OMIM:612924","UMLS:C2752038","medgen:416691"],"information_content":100.0}
{"id":"MONDO:0013043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical hemolytic-uremic syndrome with C3 anomaly","equivalent_identifiers":["MONDO:0013043","OMIM:612925","UMLS:C2752037","medgen:442875"],"information_content":100.0}
{"id":"MONDO:0013044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical hemolytic-uremic syndrome with thrombomodulin anomaly","equivalent_identifiers":["MONDO:0013044","OMIM:612926","UMLS:C2752036","medgen:414541"],"information_content":100.0}
{"id":"MONDO:0013046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to muscle beta-enolase deficiency","equivalent_identifiers":["MONDO:0013046","OMIM:612932","orphanet:99849","UMLS:C2752027","MESH:C567861","medgen:442873","icd11.foundation:821809975"],"information_content":100.0}
{"id":"MONDO:0013047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to lactate dehydrogenase M-subunit deficiency","equivalent_identifiers":["MONDO:0013047","OMIM:612933","orphanet:284426","UMLS:C2931743","MESH:C538133","SNOMEDCT:237982007","medgen:419152"],"information_content":100.0}
{"id":"MONDO:0013048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 50","equivalent_identifiers":["MONDO:0013048","DOID:0110802","OMIM:612936","UMLS:C2752008","MESH:C567858","NCIT:C179863","medgen:442869"],"information_content":100.0}
{"id":"MONDO:0013049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DPM3-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0013049","OMIM:612937","orphanet:263494","UMLS:C2752007","MESH:C567857","SNOMEDCT:725044000","medgen:414534"],"information_content":95.4}
{"id":"MONDO:0013050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal polymalformative syndrome, Boissel type","equivalent_identifiers":["MONDO:0013050","OMIM:612938","orphanet:210144","UMLS:C2752001","MESH:C567856","medgen:414158"],"information_content":100.0}
{"id":"MONDO:0013051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cutis laxa type 2B","equivalent_identifiers":["MONDO:0013051","DOID:0070137","OMIM:612940","orphanet:357064","UMLS:C2751987","MESH:C567855","SNOMEDCT:778068007","medgen:414526"],"information_content":100.0}
{"id":"MONDO:0013052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 42","equivalent_identifiers":["MONDO:0013052","DOID:0110386","OMIM:612943","UMLS:C2751986","MESH:C567854","medgen:442864"],"information_content":100.0}
{"id":"MONDO:0013053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","equivalent_identifiers":["MONDO:0013053","OMIM:612946","orphanet:217026","UMLS:C2751878","MESH:C567850","SNOMEDCT:719395001","medgen:414129"],"information_content":100.0}
{"id":"MONDO:0013056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 39","equivalent_identifiers":["MONDO:0013056","DOID:0080349","OMIM:612949","orphanet:353217","UMLS:C2751855","UMLS:C4512050","MESH:C567847","SNOMEDCT:726702005","medgen:414492"],"information_content":100.0}
{"id":"MONDO:0013058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystic leukoencephalopathy without megalencephaly","equivalent_identifiers":["MONDO:0013058","DOID:0081007","OMIM:612951","orphanet:85136","UMLS:C2751843","MESH:C567845","SNOMEDCT:720825005","medgen:416646","icd11.foundation:1081165012"],"information_content":100.0}
{"id":"MONDO:0013059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi-Goutieres syndrome 5","equivalent_identifiers":["MONDO:0013059","OMIM:612952","UMLS:C2749659","MESH:C535608","NCIT:C168564","medgen:413116"],"information_content":100.0}
{"id":"MONDO:0013060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive Parkinson disease 14","equivalent_identifiers":["MONDO:0013060","DOID:0060900","OMIM:612953","orphanet:199351","UMLS:C2751842","MESH:C567844","NCIT:C201519","SNOMEDCT:720466001","medgen:414488"],"information_content":100.0}
{"id":"MONDO:0013061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy 6","equivalent_identifiers":["MONDO:0013061","DOID:0080097","OMIM:612954","orphanet:199340","UMLS:C2751831","MESH:C567843","medgen:414119"],"information_content":100.0}
{"id":"MONDO:0013062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 12","equivalent_identifiers":["MONDO:0013062","DOID:0110653","OMIM:612955","UMLS:C2751830","MESH:C567842","NCIT:C192202","medgen:442824"],"information_content":100.0}
{"id":"MONDO:0013063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular fibrillation, paroxysmal familial, 2","equivalent_identifiers":["MONDO:0013063","OMIM:612956","UMLS:C2751829","MESH:C567841","medgen:442823"],"information_content":100.0}
{"id":"MONDO:0013064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple synostoses syndrome 3","equivalent_identifiers":["MONDO:0013064","DOID:0081319","OMIM:612961","UMLS:C2751826","MESH:C567839","medgen:414116"],"information_content":100.0}
{"id":"MONDO:0013065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 7","equivalent_identifiers":["MONDO:0013065","DOID:0080864","OMIM:612964","UMLS:C2751825","UMLS:C4479664","MESH:C567838","medgen:414115"],"information_content":100.0}
{"id":"MONDO:0013066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 3","equivalent_identifiers":["MONDO:0013066","DOID:0111772","OMIM:612965","UMLS:C3489793","medgen:483746"],"information_content":100.0}
{"id":"MONDO:0013067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 34 multiple types","equivalent_identifiers":["MONDO:0013067","DOID:0110230","OMIM:612968","UMLS:C2751822","MESH:C567835","medgen:442822"],"information_content":100.0}
{"id":"MONDO:0013069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 7","equivalent_identifiers":["MONDO:0013069","DOID:0111437","OMIM:612989","orphanet:227976","UMLS:C2751812","MESH:C567833","medgen:414112"],"information_content":100.0}
{"id":"MONDO:0013070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 7","equivalent_identifiers":["MONDO:0013070","DOID:0070173","OMIM:612997","UMLS:C2751811","MESH:C567832","medgen:414478"],"information_content":100.0}
{"id":"MONDO:0013071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Emery-Dreifuss muscular dystrophy 4, autosomal dominant","equivalent_identifiers":["MONDO:0013071","DOID:0070249","OMIM:612998","UMLS:C2751807","MESH:C567831","medgen:414476"],"information_content":100.0}
{"id":"MONDO:0013072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Emery-Dreifuss muscular dystrophy 5, autosomal dominant","equivalent_identifiers":["MONDO:0013072","DOID:0070250","OMIM:612999","UMLS:C2751805","medgen:414111"],"information_content":100.0}
{"id":"MONDO:0013073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma, nonepidermolytic, focal 1","equivalent_identifiers":["MONDO:0013073","DOID:0111709","OMIM:613000","UMLS:C4552049","medgen:1644485"],"information_content":100.0}
{"id":"MONDO:0013074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalocraniocutaneous lipomatosis","equivalent_identifiers":["MONDO:0013074","OMIM:613001","orphanet:2396","UMLS:C0406612","MESH:C535736","NCIT:C4701","SNOMEDCT:238905009","medgen:140807","icd11.foundation:1084215843"],"information_content":100.0}
{"id":"MONDO:0013076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"attention deficit-hyperactivity disorder, susceptibility to, 7","equivalent_identifiers":["MONDO:0013076","OMIM:613003","UMLS:C2751802","medgen:416637"],"information_content":100.0}
{"id":"MONDO:0013077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Santos syndrome","equivalent_identifiers":["MONDO:0013077","OMIM:613005","UMLS:C2751698","MESH:C567819","medgen:414444"],"information_content":100.0}
{"id":"MONDO:0013081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ITK Deficiency","equivalent_identifiers":["MONDO:0013081","DOID:0060707","OMIM:613011","orphanet:538963","UMLS:C2751686","UMLS:C3552634","UMLS:C4283841","MESH:C567815","NCIT:C126344","SNOMEDCT:1186714005","medgen:765548","ICD10:D47.9"],"information_content":100.0}
{"id":"MONDO:0013082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease-ganglioneuroblastoma syndrome","equivalent_identifiers":["MONDO:0013082","OMIM:613013","orphanet:2151","UMLS:C2751682","UMLS:C2751683","UMLS:C5191058","MESH:C538119","SNOMEDCT:783737007","medgen:1683967"],"information_content":100.0}
{"id":"MONDO:0013087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchiectasis with or without elevated sweat chloride 2","equivalent_identifiers":["MONDO:0013087","DOID:0080527","OMIM:613021","UMLS:C2751666","MESH:C567813","medgen:414437"],"information_content":100.0}
{"id":"MONDO:0013090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 19q13.11 deletion syndrome","equivalent_identifiers":["MONDO:0013090","DOID:0060408","orphanet:217346","UMLS:C2751651","UMLS:C4304577","MESH:C567810","SNOMEDCT:719599008","medgen:414432"],"information_content":92.8}
{"id":"MONDO:0013091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease IXc","equivalent_identifiers":["MONDO:0013091","DOID:0111043","OMIM:613027","UMLS:C2751643","MESH:C567809","medgen:442778"],"information_content":100.0}
{"id":"MONDO:0013099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined pituitary hormone deficiencies, genetic form","equivalent_identifiers":["MONDO:0013099","OMIM.PS:613038","orphanet:95494","UMLS:C4273747","SNOMEDCT:718182008","medgen:906592"],"information_content":79.6}
{"id":"MONDO:0013100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 8","equivalent_identifiers":["MONDO:0013100","OMIM:613055","UMLS:C2751607","MESH:C567802","medgen:414420"],"information_content":100.0}
{"id":"MONDO:0013103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, idiopathic generalized, susceptibility to, 10","equivalent_identifiers":["MONDO:0013103","OMIM:613060","UMLS:C2751603","UMLS:C3150399","medgen:414062"],"information_content":100.0}
{"id":"MONDO:0013110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegenerative syndrome due to cerebral folate transport deficiency","equivalent_identifiers":["MONDO:0013110","DOID:0050719","OMIM:613068","orphanet:217382","UMLS:C2751584","UMLS:C4022901","MESH:C567791","MEDDRA:10088217","SNOMEDCT:711403001","medgen:442763","icd11.foundation:1158040363","HP:0012446"],"information_content":100.0}
{"id":"MONDO:0013111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins","equivalent_identifiers":["MONDO:0013111","DOID:0080778","OMIM:613070","orphanet:217371","UMLS:C3278664","medgen:480294"],"information_content":100.0}
{"id":"MONDO:0013112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchiectasis with or without elevated sweat chloride 3","equivalent_identifiers":["MONDO:0013112","DOID:0080528","OMIM:613071","UMLS:C2751324","MESH:C567772","medgen:414351"],"information_content":100.0}
{"id":"MONDO:0013113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal anadysplasia 2","equivalent_identifiers":["MONDO:0013113","OMIM:613073","UMLS:C2751322","MESH:C567771","medgen:414350"],"information_content":100.0}
{"id":"MONDO:0013114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 50","equivalent_identifiers":["MONDO:0013114","DOID:0110576","OMIM:613074","UMLS:C3888123","medgen:854780"],"information_content":100.0}
{"id":"MONDO:0013115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RIN2 syndrome","equivalent_identifiers":["MONDO:0013115","OMIM:613075","orphanet:217335","UMLS:C2751321","MESH:C567770","SNOMEDCT:723367005","medgen:416526"],"information_content":100.0}
{"id":"MONDO:0013116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome","equivalent_identifiers":["MONDO:0013116","OMIM:613076","orphanet:330054","UMLS:C2751320","MESH:C567769","medgen:416525"],"information_content":100.0}
{"id":"MONDO:0013117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5","equivalent_identifiers":["MONDO:0013117","DOID:0111518","OMIM:613077","UMLS:C2751319","MESH:C567768","medgen:413981"],"information_content":100.0}
{"id":"MONDO:0013118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nijmegen breakage syndrome-like disorder","equivalent_identifiers":["MONDO:0013118","OMIM:613078","orphanet:240760","UMLS:C2751318","MESH:C567767","NCIT:C153178","SNOMEDCT:766753005","medgen:442700","icd11.foundation:1014526672"],"information_content":100.0}
{"id":"MONDO:0013119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 77","equivalent_identifiers":["MONDO:0013119","DOID:0110525","OMIM:613079","UMLS:C2746083","MESH:C567543","medgen:412541"],"information_content":100.0}
{"id":"MONDO:0013120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 5","equivalent_identifiers":["MONDO:0013120","DOID:0111776","OMIM:613080","UMLS:C2751317","MESH:C567766","medgen:414349"],"information_content":100.0}
{"id":"MONDO:0013122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma 3, primary congenital, D","equivalent_identifiers":["MONDO:0013122","OMIM:613086","UMLS:C2751316","MESH:C567765","medgen:416524"],"information_content":100.0}
{"id":"MONDO:0013123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 6","equivalent_identifiers":["MONDO:0013123","DOID:0110111","OMIM:613087","UMLS:C2751315","MESH:C567764","medgen:414348"],"information_content":100.0}
{"id":"MONDO:0013125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CLAPO syndrome","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0013125","OMIM:613089","orphanet:168984","UMLS:C2751313","MESH:C567763","SNOMEDCT:717765001","medgen:416522","icd11.foundation:415642712"],"information_content":100.0}
{"id":"MONDO:0013127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asphyxiating thoracic dystrophy 3","equivalent_identifiers":["MONDO:0013127","DOID:0110087","OMIM:613091","orphanet:93270","orphanet:93271","UMLS:C0036069","UMLS:C0432197","MESH:C537602","NCIT:C163755","SNOMEDCT:254051008","SNOMEDCT:726032008","medgen:19860"],"information_content":100.0}
{"id":"MONDO:0013128","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial juvenile hyperuricemic nephropathy type 2","equivalent_identifiers":["MONDO:0013128","DOID:0061119","OMIM:613092","orphanet:217330","UMLS:C2751310","UMLS:C4303080","MESH:C567760","SNOMEDCT:721840000","medgen:414347"],"information_content":100.0}
{"id":"MONDO:0013129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Achromatopsia 5","equivalent_identifiers":["MONDO:0013129","OMIM:613093","UMLS:C2751308","MESH:C567758","NCIT:C164226","medgen:416518"],"information_content":95.4}
{"id":"MONDO:0013130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia 4","equivalent_identifiers":["MONDO:0013130","DOID:0060836","OMIM:613094","UMLS:C2751307","MESH:C567757","medgen:414346"],"information_content":100.0}
{"id":"MONDO:0013131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic kidney disease 2","equivalent_identifiers":["MONDO:0013131","DOID:0110859","OMIM:613095","UMLS:C2751306","NCIT:C123166","SNOMEDCT:253879006","medgen:442699"],"information_content":100.0}
{"id":"MONDO:0013132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 36","equivalent_identifiers":["MONDO:0013132","DOID:0110787","OMIM:613096","orphanet:320365","UMLS:C2936879","MESH:C567930","SNOMEDCT:723819007","medgen:422457"],"information_content":100.0}
{"id":"MONDO:0013134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma 1, open angle, O","equivalent_identifiers":["MONDO:0013134","OMIM:613100","UMLS:C2751294","MESH:C567753","medgen:416515"],"information_content":100.0}
{"id":"MONDO:0013135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hemophagocytic lymphohistiocytosis 5","equivalent_identifiers":["MONDO:0013135","DOID:0110925","OMIM:613101","UMLS:C2751293","MESH:C567752","NCIT:C203464","medgen:416514"],"information_content":92.8}
{"id":"MONDO:0013136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary hypotrichosis with recurrent skin vesicles","equivalent_identifiers":["MONDO:0013136","OMIM:613102","orphanet:217407","UMLS:C2751292","MESH:C567751","SNOMEDCT:724350009","medgen:442697"],"information_content":100.0}
{"id":"MONDO:0013137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroidal dystrophy, central areolar 2","equivalent_identifiers":["MONDO:0013137","OMIM:613105","UMLS:C2751290","MESH:C567750","medgen:442696"],"information_content":100.0}
{"id":"MONDO:0013139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutropenia, severe congenital, 2, autosomal dominant","equivalent_identifiers":["MONDO:0013139","DOID:0112131","OMIM:613107","UMLS:C2751288","MESH:C567748","NCIT:C176610","medgen:413975"],"information_content":100.0}
{"id":"MONDO:0013140","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"candidiasis, familial, 4","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013140","OMIM:613108","UMLS:C0341024","SNOMEDCT:235073000","medgen:90958"],"information_content":100.0}
{"id":"MONDO:0013142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary sensory and autonomic, type 2B","equivalent_identifiers":["MONDO:0013142","DOID:0070150","OMIM:613115","UMLS:C2751092","MESH:C567738","SNOMEDCT:860810005","medgen:413474"],"information_content":100.0}
{"id":"MONDO:0013143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency","equivalent_identifiers":["MONDO:0013143","DOID:0111903","OMIM:613116","orphanet:217467","UMLS:C2751090","UMLS:C2751091","MESH:C567737","medgen:416465","icd11.foundation:1764310021"],"information_content":100.0}
{"id":"MONDO:0013144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary antithrombin deficiency","equivalent_identifiers":["MONDO:0013144","DOID:3755","OMIM:613118","orphanet:82","UMLS:C0272375","MESH:D020152","MEDDRA:10002832","MEDDRA:10083881","NCIT:C98815","SNOMEDCT:36351005","medgen:75781","HP:0001976"],"information_content":100.0}
{"id":"MONDO:0013145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 6","equivalent_identifiers":["MONDO:0013145","DOID:0110223","OMIM:613119","UMLS:C2751089","MESH:C567735","medgen:413473"],"information_content":100.0}
{"id":"MONDO:0013146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 7","equivalent_identifiers":["MONDO:0013146","DOID:0110224","OMIM:613120","UMLS:C2751088","MESH:C567734","medgen:413472"],"information_content":100.0}
{"id":"MONDO:0013147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1CC","equivalent_identifiers":["MONDO:0013147","DOID:0110424","OMIM:613122","UMLS:C2751084","MESH:C567733","medgen:413929"],"information_content":100.0}
{"id":"MONDO:0013148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 8","equivalent_identifiers":["MONDO:0013148","DOID:0110225","OMIM:613123","UMLS:C2751083","MESH:C567732","medgen:413928"],"information_content":100.0}
{"id":"MONDO:0013149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrops fetalis, nonimmune, with gracile bones and dysmorphic features","equivalent_identifiers":["MONDO:0013149","OMIM:613124","UMLS:C2751073","UMLS:C5193233","MESH:C567731","medgen:1677588"],"information_content":100.0}
{"id":"MONDO:0013150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parkinsonism-dystonia, infantile","equivalent_identifiers":["MONDO:0013150","OMIM.PS:613135","orphanet:238455","UMLS:C2751067","MESH:C567730","medgen:413468"],"information_content":90.9}
{"id":"MONDO:0013151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroidal dystrophy, central areolar, 3","equivalent_identifiers":["MONDO:0013151","OMIM:613144","UMLS:C2751055","MESH:C567729","medgen:442631"],"information_content":100.0}
{"id":"MONDO:0013153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 28","equivalent_identifiers":["MONDO:0013153","DOID:0110899","OMIM:613148","UMLS:C2751053","MESH:C567728","NCIT:C164676","medgen:442630"],"information_content":100.0}
{"id":"MONDO:0013154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2","equivalent_identifiers":["MONDO:0013154","DOID:0111240","OMIM:613150","UMLS:C3150411","NCIT:C126742","medgen:461761"],"information_content":100.0}
{"id":"MONDO:0013155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3","equivalent_identifiers":["MONDO:0013155","DOID:0112378","OMIM:613151","UMLS:C3150412","medgen:461762"],"information_content":100.0}
{"id":"MONDO:0013156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4","equivalent_identifiers":["MONDO:0013156","DOID:0112379","OMIM:613152","UMLS:C2751052","medgen:413465"],"information_content":100.0}
{"id":"MONDO:0013157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5","equivalent_identifiers":["MONDO:0013157","DOID:0111241","OMIM:613153","UMLS:C3150413","medgen:461763"],"information_content":100.0}
{"id":"MONDO:0013158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6","equivalent_identifiers":["MONDO:0013158","DOID:0111242","OMIM:613154","UMLS:C3150414","NCIT:C126743","medgen:461764"],"information_content":100.0}
{"id":"MONDO:0013159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1","equivalent_identifiers":["MONDO:0013159","DOID:0050588","OMIM:613155","UMLS:C5436962","medgen:1774807"],"information_content":100.0}
{"id":"MONDO:0013160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2","equivalent_identifiers":["MONDO:0013160","DOID:0112380","OMIM:613156","UMLS:C3150416","NCIT:C126690","medgen:461766"],"information_content":100.0}
{"id":"MONDO:0013161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2O","equivalent_identifiers":["MONDO:0013161","DOID:0110292","OMIM:613157","orphanet:206564","UMLS:C3150417","SNOMEDCT:725043006","medgen:461767"],"information_content":100.0}
{"id":"MONDO:0013162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2N","equivalent_identifiers":["MONDO:0013162","DOID:0110298","OMIM:613158","orphanet:206559","UMLS:C3150418","SNOMEDCT:726617002","medgen:461768"],"information_content":100.0}
{"id":"MONDO:0013163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis-like nephropathy 1","equivalent_identifiers":["MONDO:0013163","DOID:0111117","OMIM:613159","UMLS:C3150419","medgen:461769"],"information_content":100.0}
{"id":"MONDO:0013164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta-ureidopropionase deficiency","equivalent_identifiers":["MONDO:0013164","OMIM:613161","orphanet:65287","UMLS:C1291512","MESH:C563210","SNOMEDCT:124511000","medgen:226944","icd11.foundation:1227425060"],"information_content":100.0}
{"id":"MONDO:0013165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 45","equivalent_identifiers":["MONDO:0013165","DOID:0110797","OMIM:613162","orphanet:320396","UMLS:C3888209","SNOMEDCT:765753004","medgen:854816"],"information_content":100.0}
{"id":"MONDO:0013166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GABA aminotransaminase deficiency","equivalent_identifiers":["MONDO:0013166","DOID:0060174","OMIM:613163","orphanet:2066","UMLS:C0342708","MESH:C535407","SNOMEDCT:237941007","medgen:137977"],"information_content":100.0}
{"id":"MONDO:0013168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1DD","equivalent_identifiers":["MONDO:0013168","DOID:0110447","OMIM:613172","UMLS:C2750995","MESH:C567725","NCIT:C174435","medgen:416441"],"information_content":100.0}
{"id":"MONDO:0013169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 5p13 duplication syndrome","equivalent_identifiers":["MONDO:0013169","DOID:0060460","OMIM:613174","orphanet:329802","UMLS:C2750805","MESH:C567717","medgen:416385"],"information_content":100.0}
{"id":"MONDO:0013170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies","equivalent_identifiers":["MONDO:0013170","DOID:0070139","OMIM:613177","orphanet:221145","UMLS:C2750804","MESH:C567716","SNOMEDCT:784349004","medgen:442566","icd11.foundation:424903269"],"information_content":100.0}
{"id":"MONDO:0013171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"purine nucleoside phosphorylase deficiency","equivalent_identifiers":["MONDO:0013171","DOID:5813","OMIM:613179","orphanet:760","UMLS:C0268125","MESH:C562587","MEDDRA:10086665","NCIT:C176817","SNOMEDCT:60743005","medgen:75653","ICD10:D81.5"],"information_content":92.8}
{"id":"MONDO:0013172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polymicrogyria with optic nerve hypoplasia","equivalent_identifiers":["MONDO:0013172","orphanet:250972","UMLS:C2750798","MESH:C567715","SNOMEDCT:771336003","medgen:442565"],"information_content":100.0}
{"id":"MONDO:0013173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 13","equivalent_identifiers":["MONDO:0013173","DOID:0081098","OMIM:613192","UMLS:C2750791","MESH:C567714","medgen:442564"],"information_content":100.0}
{"id":"MONDO:0013174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 13","equivalent_identifiers":["MONDO:0013174","DOID:0110618","OMIM:613193","UMLS:C2750790","MESH:C567713","medgen:413399"],"information_content":100.0}
{"id":"MONDO:0013175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 50","equivalent_identifiers":["MONDO:0013175","DOID:0110396","OMIM:613194","UMLS:C2750789","MESH:C567712","medgen:442563"],"information_content":100.0}
{"id":"MONDO:0013176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weill-Marchesani 4 syndrome, recessive","equivalent_identifiers":["MONDO:0013176","OMIM:613195","orphanet:363992","UMLS:C2750787","MESH:C567710","medgen:416383"],"information_content":100.0}
{"id":"MONDO:0013177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital muscular dystrophy due to integrin alpha-7 deficiency","equivalent_identifiers":["MONDO:0013177","DOID:0110639","OMIM:613204","orphanet:34520","UMLS:C2750786","MESH:C567709","SNOMEDCT:771267003","medgen:413044"],"information_content":100.0}
{"id":"MONDO:0013178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital muscular dystrophy due to LMNA mutation","equivalent_identifiers":["MONDO:0013178","DOID:0110640","OMIM:613205","orphanet:157973","UMLS:C2750785","MESH:C567708","NCIT:C148369","SNOMEDCT:771272007","medgen:413043"],"information_content":100.0}
{"id":"MONDO:0013179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 44","equivalent_identifiers":["MONDO:0013179","DOID:0110796","OMIM:613206","orphanet:320401","UMLS:C2750784","MESH:C567707","SNOMEDCT:723821002","medgen:413042"],"information_content":100.0}
{"id":"MONDO:0013181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta hypomaturation type 2A3","equivalent_identifiers":["MONDO:0013181","DOID:0110061","OMIM:613211","UMLS:C2750771","MESH:C567706","medgen:416381"],"information_content":100.0}
{"id":"MONDO:0013182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 17p13.3 duplication syndrome","equivalent_identifiers":["MONDO:0013182","DOID:0060432","OMIM:613215","orphanet:217385","UMLS:C2750748","UMLS:C3808300","UMLS:C4304641","MESH:C567705","SNOMEDCT:719582007","medgen:814630"],"information_content":100.0}
{"id":"MONDO:0013183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CSNB1C","equivalent_identifiers":["MONDO:0013183","DOID:0110867","OMIM:613216","UMLS:C2750747","MESH:C567704","medgen:416373"],"information_content":100.0}
{"id":"MONDO:0013184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital diarrhea 5 with tufting enteropathy","equivalent_identifiers":["MONDO:0013184","DOID:0060776","OMIM:613217","orphanet:92050","UMLS:C2750737","UMLS:C4275062","MESH:C567703","NCIT:C183530","SNOMEDCT:715669000","medgen:413031"],"information_content":100.0}
{"id":"MONDO:0013185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leprosy, susceptibility to, 5","equivalent_identifiers":["MONDO:0013185","OMIM:613223","UMLS:C2750733","UMLS:C2750734","medgen:442551"],"information_content":100.0}
{"id":"MONDO:0013186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 6","equivalent_identifiers":["MONDO:0013186","DOID:0060584","OMIM:613224","UMLS:C2750732","MESH:C548084","NCIT:C176934","medgen:413028"],"information_content":100.0}
{"id":"MONDO:0013187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor XIII, A subunit, deficiency of","equivalent_identifiers":["MONDO:0013187","OMIM:613225","UMLS:C2750514","MESH:C567691","SNOMEDCT:439455002","medgen:442497","HP:0040233"],"information_content":100.0}
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{"id":"MONDO:0013189","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hair-pulling","equivalent_identifiers":["MONDO:0013189","DOID:0050587","OMIM:613229","UMLS:C0040953","MESH:D014256","MEDDRA:10019046","MEDDRA:10044629","MEDDRA:10089585","NCIT:C94336","SNOMEDCT:17155009","medgen:21654","icd11.foundation:1253999657","HP:0012167"],"information_content":100.0}
{"id":"MONDO:0013190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor XIII, b subunit, deficiency of","equivalent_identifiers":["MONDO:0013190","OMIM:613235","UMLS:C2750481","MESH:C567688","medgen:442490","HP:0040234"],"information_content":100.0}
{"id":"MONDO:0013191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal segmental glomerulosclerosis 5","equivalent_identifiers":["MONDO:0013191","DOID:0111130","OMIM:613237","UMLS:C2750475","MESH:C567687","medgen:413315"],"information_content":100.0}
{"id":"MONDO:0013193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyrotoxic periodic paralysis, susceptibility to, 2","equivalent_identifiers":["MONDO:0013193","OMIM:613239","UMLS:C2750473","medgen:413851"],"information_content":100.0}
{"id":"MONDO:0013195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 13","equivalent_identifiers":["MONDO:0013195","DOID:0110319","OMIM:613243","UMLS:C2750472","MESH:C567686","medgen:442487"],"information_content":100.0}
{"id":"MONDO:0013197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 14","equivalent_identifiers":["MONDO:0013197","DOID:0110320","OMIM:613251","UMLS:C2750467","MESH:C567684","NCIT:C176899","medgen:442484"],"information_content":100.0}
{"id":"MONDO:0013198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1EE","equivalent_identifiers":["MONDO:0013198","DOID:0110453","OMIM:613252","UMLS:C2750466","MESH:C567683","medgen:412965"],"information_content":100.0}
{"id":"MONDO:0013200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 15","equivalent_identifiers":["MONDO:0013200","DOID:0110321","OMIM:613255","UMLS:C2750459","MESH:C567681","medgen:413312"],"information_content":100.0}
{"id":"MONDO:0013201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 4B","equivalent_identifiers":["MONDO:0013201","DOID:0110954","OMIM:613265","UMLS:C2750457","MESH:C567680","medgen:412961"],"information_content":100.0}
{"id":"MONDO:0013202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 4C","equivalent_identifiers":["MONDO:0013202","DOID:0110955","OMIM:613266","UMLS:C2750452","MESH:C567679","medgen:413310"],"information_content":100.0}
{"id":"MONDO:0013203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal dystrophy, Fuchs endothelial, 3","equivalent_identifiers":["MONDO:0013203","OMIM:613267","UMLS:C2750451","MESH:C567678","medgen:442479"],"information_content":100.0}
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{"id":"MONDO:0013206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal dystrophy, Fuchs endothelial, 6","equivalent_identifiers":["MONDO:0013206","OMIM:613270","UMLS:C2750448","MESH:C567675","medgen:442478"],"information_content":100.0}
{"id":"MONDO:0013208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome","equivalent_identifiers":["MONDO:0013208","DOID:0080536","OMIM:613280","orphanet:309854","UMLS:C2750442","MESH:C548016","SNOMEDCT:702377007","medgen:412958"],"information_content":100.0}
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{"id":"MONDO:0013211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1FF","equivalent_identifiers":["MONDO:0013211","DOID:0110459","OMIM:613286","UMLS:C2750091","MESH:C567654","medgen:412876"],"information_content":100.0}
{"id":"MONDO:0013212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2N","equivalent_identifiers":["MONDO:0013212","DOID:0110177","OMIM:613287","orphanet:228174","UMLS:C2750090","MESH:C567653","SNOMEDCT:719515001","medgen:413754"],"information_content":100.0}
{"id":"MONDO:0013214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bile acid malabsorption, primary, 1","equivalent_identifiers":["MONDO:0013214","OMIM:613291","UMLS:C2750087","UMLS:C5561934","MESH:C567652","medgen:1794144"],"information_content":100.0}
{"id":"MONDO:0013215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 79","equivalent_identifiers":["MONDO:0013215","DOID:0110526","OMIM:613307","UMLS:C2750082","MESH:C567651","medgen:413222"],"information_content":100.0}
{"id":"MONDO:0013216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 9","equivalent_identifiers":["MONDO:0013216","DOID:0111884","OMIM:613308","UMLS:C2750081","MESH:C567650","NCIT:C176918","medgen:412874"],"information_content":100.0}
{"id":"MONDO:0013217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 10","equivalent_identifiers":["MONDO:0013217","DOID:0111888","OMIM:613309","UMLS:C2750080","MESH:C567649","NCIT:C176919","medgen:412873"],"information_content":100.0}
{"id":"MONDO:0013218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exudative vitreoretinopathy 5","equivalent_identifiers":["MONDO:0013218","DOID:0111408","OMIM:613310","UMLS:C2750079","MESH:C567648","medgen:412872"],"information_content":100.0}
{"id":"MONDO:0013219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemic rickets, autosomal recessive, 2","equivalent_identifiers":["MONDO:0013219","OMIM:613312","UMLS:C2750078","MESH:C567647","medgen:442380"],"information_content":100.0}
{"id":"MONDO:0013220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemochromatosis type 2B","equivalent_identifiers":["MONDO:0013220","DOID:0111032","OMIM:613313","UMLS:C1865616","MESH:C566557","medgen:356040"],"information_content":100.0}
{"id":"MONDO:0013222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Miyoshi muscular dystrophy 3","equivalent_identifiers":["MONDO:0013222","DOID:0070201","OMIM:613319","orphanet:399096","UMLS:C2750076","MESH:C567645","SNOMEDCT:783166000","medgen:413750"],"information_content":100.0}
{"id":"MONDO:0013223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spondylometaphyseal dysplasia, Megarbane type","equivalent_identifiers":["MONDO:0013223","DOID:0112304","OMIM:613320","orphanet:401979","UMLS:C2750075","MESH:C567644","medgen:413221"],"information_content":100.0}
{"id":"MONDO:0013225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital generalized lipodystrophy type 4","equivalent_identifiers":["MONDO:0013225","DOID:0111138","OMIM:613327","UMLS:C2750069","MESH:C567642","SNOMEDCT:1156814008","medgen:412871"],"information_content":100.0}
{"id":"MONDO:0013226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency with faciooculoskeletal anomalies","equivalent_identifiers":["MONDO:0013226","OMIM:613328","orphanet:221139","UMLS:C2750068","MESH:C567641","SNOMEDCT:770625006","medgen:442377"],"information_content":100.0}
{"id":"MONDO:0013227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital plasminogen activator inhibitor type 1 deficiency","equivalent_identifiers":["MONDO:0013227","OMIM:613329","orphanet:465","UMLS:C2750067","UMLS:C4273899","MESH:C567640","NCIT:C133884","SNOMEDCT:717407006","medgen:412870","icd11.foundation:428643962"],"information_content":100.0}
{"id":"MONDO:0013228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylo-megaepiphyseal-metaphyseal dysplasia","equivalent_identifiers":["MONDO:0013228","OMIM:613330","orphanet:228387","UMLS:C2750066","MESH:C567639","SNOMEDCT:773693005","medgen:412869"],"information_content":100.0}
{"id":"MONDO:0013229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hot water reflex epilepsy","equivalent_identifiers":["MONDO:0013229","DOID:0081104","OMIM.PS:613339","orphanet:166412","UMLS:C0393729","UMLS:C4706506","SNOMEDCT:230454005","SNOMEDCT:763534009","medgen:1631373"],"information_content":92.8}
{"id":"MONDO:0013231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 14","equivalent_identifiers":["MONDO:0013231","DOID:0110188","OMIM:613341","UMLS:C2750063","UMLS:C2750064","UMLS:C2750065","MESH:C567636","medgen:442375"],"information_content":100.0}
{"id":"MONDO:0013232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactylous dwarfism, Mseleni type","equivalent_identifiers":["MONDO:0013232","OMIM:613342","orphanet:2619","UMLS:C2931420","MESH:C537086","SNOMEDCT:715470008","medgen:419408","icd11.foundation:419953164"],"information_content":100.0}
{"id":"MONDO:0013233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Handigodu type","equivalent_identifiers":["MONDO:0013233","OMIM:613343","orphanet:99642","UMLS:C3150545","SNOMEDCT:763885008","medgen:461895","icd11.foundation:2048058677"],"information_content":100.0}
{"id":"MONDO:0013234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypokalemic periodic paralysis, type 2","equivalent_identifiers":["MONDO:0013234","OMIM:613345","UMLS:C2750061","MESH:C567635","medgen:413748"],"information_content":100.0}
{"id":"MONDO:0013237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"susceptibility to mononeuropathy of the median nerve, mild","equivalent_identifiers":["MONDO:0013237","OMIM:613353","UMLS:C3150596","medgen:461946"],"information_content":100.0}
{"id":"MONDO:0013238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 17q23.1-q23.2 deletion syndrome","equivalent_identifiers":["MONDO:0013238","DOID:0060405","OMIM:613355","orphanet:261279","UMLS:C3150607","UMLS:C4304591","SNOMEDCT:719584008","medgen:461957"],"information_content":100.0}
{"id":"MONDO:0013239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 41","equivalent_identifiers":["MONDO:0013239","DOID:0110793","OMIM:613364","orphanet:320355","UMLS:C3888208","SNOMEDCT:763069002","medgen:854815"],"information_content":100.0}
{"id":"MONDO:0013240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 10","equivalent_identifiers":["MONDO:0013240","DOID:0111108","OMIM:613370","UMLS:C3150617","SNOMEDCT:609577006","medgen:461967"],"information_content":100.0}
{"id":"MONDO:0013241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 30","equivalent_identifiers":["MONDO:0013241","DOID:0050979","OMIM:613371","orphanet:211017","UMLS:C2936793","MESH:C575214","SNOMEDCT:719253007","medgen:424821","icd11.foundation:716324960"],"information_content":100.0}
{"id":"MONDO:0013242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 11","equivalent_identifiers":["MONDO:0013242","DOID:0111109","OMIM:613375","UMLS:C3150618","SNOMEDCT:609578001","medgen:461968"],"information_content":100.0}
{"id":"MONDO:0013243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 2C","equivalent_identifiers":["MONDO:0013243","DOID:0111209","OMIM:613376","UMLS:C3150619","medgen:461969"],"information_content":100.0}
{"id":"MONDO:0013244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type E2","equivalent_identifiers":["MONDO:0013244","DOID:0110976","OMIM:613382","UMLS:C3150644","medgen:461994"],"information_content":100.0}
{"id":"MONDO:0013245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic multisystem autoimmune disease due to ITCH deficiency","equivalent_identifiers":["MONDO:0013245","OMIM:613385","orphanet:228426","UMLS:C3150649","medgen:461999","icd11.foundation:1970749000"],"information_content":100.0}
{"id":"MONDO:0013246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatty liver disease, nonalcoholic, susceptibility to, 2","equivalent_identifiers":["MONDO:0013246","OMIM:613387","UMLS:C3150651","medgen:462001"],"information_content":100.0}
{"id":"MONDO:0013247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi renotubular syndrome 2","equivalent_identifiers":["MONDO:0013247","DOID:0080758","OMIM:613388","UMLS:C3150652","medgen:462002"],"information_content":100.0}
{"id":"MONDO:0013248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group O","equivalent_identifiers":["MONDO:0013248","DOID:0111096","OMIM:613390","UMLS:C3150653","NCIT:C176910","medgen:462003"],"information_content":92.8}
{"id":"MONDO:0013249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 84A","equivalent_identifiers":["MONDO:0013249","DOID:0110529","OMIM:613391","UMLS:C3150654","medgen:462004"],"information_content":100.0}
{"id":"MONDO:0013250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 85","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013250","DOID:0110531","OMIM:613392","UMLS:C3160740","medgen:463629"],"information_content":100.0}
{"id":"MONDO:0013251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Birbeck granule deficiency","equivalent_identifiers":["MONDO:0013251","OMIM:613393","UMLS:C3150657","medgen:462007"],"information_content":100.0}
{"id":"MONDO:0013252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Warsaw breakage syndrome","equivalent_identifiers":["MONDO:0013252","DOID:0060535","OMIM:613398","orphanet:280558","UMLS:C3150658","NCIT:C164675","SNOMEDCT:702829000","medgen:462008","icd11.foundation:833375162"],"information_content":100.0}
{"id":"MONDO:0013253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast-ovarian cancer, familial, susceptibility to, 3","equivalent_identifiers":["MONDO:0013253","OMIM:613399","UMLS:C3150659","UMLS:C3150660","UMLS:C3150661","medgen:462009"],"information_content":100.0}
{"id":"MONDO:0013254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly, seizures, and developmental delay","equivalent_identifiers":["MONDO:0013254","DOID:0080457","OMIM:613402","UMLS:C3150667","medgen:462017"],"information_content":100.0}
{"id":"MONDO:0013255","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, renal dysfunction, and cholestasis 2","equivalent_identifiers":["MONDO:0013255","DOID:0111354","OMIM:613404","UMLS:C3150672","medgen:462022"],"information_content":100.0}
{"id":"MONDO:0013256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 15q24 deletion syndrome","equivalent_identifiers":["MONDO:0013256","DOID:0060395","OMIM:613406","orphanet:94065","UMLS:C3150674","UMLS:C3150675","UMLS:C3697269","MESH:C579849","SNOMEDCT:699308002","medgen:462024"],"information_content":100.0}
{"id":"MONDO:0013258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, 16","equivalent_identifiers":["MONDO:0013258","OMIM:613410","UMLS:C3150677","medgen:462027"],"information_content":100.0}
{"id":"MONDO:0013259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oguchi disease-2","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013259","DOID:0110713","OMIM:613411","UMLS:C3150678","medgen:462028"],"information_content":100.0}
{"id":"MONDO:0013260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophagitis, eosinophilic, 2","equivalent_identifiers":["MONDO:0013260","OMIM:613412","UMLS:C3150679","medgen:462029"],"information_content":100.0}
{"id":"MONDO:0013261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1R","equivalent_identifiers":["MONDO:0013261","DOID:0110456","OMIM:613424","UMLS:C3150681","medgen:462031"],"information_content":100.0}
{"id":"MONDO:0013262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1S","equivalent_identifiers":["MONDO:0013262","DOID:0110454","OMIM:613426","UMLS:C1834481","MESH:C563538","medgen:371831"],"information_content":100.0}
{"id":"MONDO:0013263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 54","equivalent_identifiers":["MONDO:0013263","DOID:0110364","OMIM:613428","UMLS:C3150691","UMLS:C5829987","medgen:462041"],"information_content":100.0}
{"id":"MONDO:0013264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 12","equivalent_identifiers":["MONDO:0013264","DOID:0060203","OMIM:613435","UMLS:C3150692","medgen:462042"],"information_content":100.0}
{"id":"MONDO:0013265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, 17","equivalent_identifiers":["MONDO:0013265","OMIM:613436","UMLS:C3150693","medgen:462043"],"information_content":100.0}
{"id":"MONDO:0013266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 20","equivalent_identifiers":["MONDO:0013266","DOID:0070050","OMIM:613443","orphanet:664410","UMLS:C3150700","UMLS:C4225434","medgen:462050"],"information_content":100.0}
{"id":"MONDO:0013267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal 16p11.2 microdeletion syndrome","equivalent_identifiers":["MONDO:0013267","DOID:0060398","OMIM:613444","orphanet:261222","UMLS:C3150701","UMLS:C3150702","UMLS:C4518824","SNOMEDCT:733521003","medgen:462051"],"information_content":100.0}
{"id":"MONDO:0013268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontonasal dysplasia with alopecia and genital anomaly","equivalent_identifiers":["MONDO:0013268","DOID:0081046","OMIM:613451","orphanet:228390","UMLS:C3150703","UMLS:C4510728","SNOMEDCT:725029001","medgen:462053"],"information_content":100.0}
{"id":"MONDO:0013269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 91","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013269","DOID:0110536","OMIM:613453","UMLS:C3150704","medgen:462054"],"information_content":100.0}
{"id":"MONDO:0013271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome","equivalent_identifiers":["MONDO:0013271","DOID:0081047","OMIM:613456","orphanet:306542","UMLS:C3150706","medgen:462056"],"information_content":100.0}
{"id":"MONDO:0013272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 14q11-q22 deletion syndrome","equivalent_identifiers":["MONDO:0013272","DOID:0060392","OMIM:613457","orphanet:261120","UMLS:C3150707","UMLS:C4304999","SNOMEDCT:719047001","medgen:462057"],"information_content":100.0}
{"id":"MONDO:0013273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 16p13.3 duplication syndrome","equivalent_identifiers":["MONDO:0013273","DOID:0060431","OMIM:613458","orphanet:96078","UMLS:C3150708","UMLS:C4518796","SNOMEDCT:733473000","medgen:462058"],"information_content":100.0}
{"id":"MONDO:0013274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 51","equivalent_identifiers":["MONDO:0013274","DOID:0110398","OMIM:613464","UMLS:C3150715","medgen:462065"],"information_content":100.0}
{"id":"MONDO:0013275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic anemia due to glucophosphate isomerase deficiency","equivalent_identifiers":["MONDO:0013275","DOID:0051005","OMIM:613470","orphanet:712","UMLS:C3150730","medgen:462080"],"information_content":100.0}
{"id":"MONDO:0013276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reynolds syndrome","equivalent_identifiers":["MONDO:0013276","OMIM:613471","orphanet:779","UMLS:C0748397","MEDDRA:10070953","SNOMEDCT:715401008","medgen:450547","icd11.foundation:1409844299"],"information_content":100.0}
{"id":"MONDO:0013277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 5","equivalent_identifiers":["MONDO:0013277","DOID:0080438","OMIM:613477","UMLS:C3150731","medgen:462081"],"information_content":100.0}
{"id":"MONDO:0013278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 3","inheritance":"Typified by incomplete penetrance","equivalent_identifiers":["MONDO:0013278","DOID:0070208","OMIM:613480","UMLS:C4747646","medgen:1652857"],"information_content":100.0}
{"id":"MONDO:0013279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 13","equivalent_identifiers":["MONDO:0013279","DOID:0110654","OMIM:613485","UMLS:C3150733","medgen:462083"],"information_content":100.0}
{"id":"MONDO:0013280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myxoid liposarcoma","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0013280","DOID:5363","DOID:5709","OMIM:613488","EFO:0000613","UMLS:C0206634","MESH:D018208","MEDDRA:10073137","NCIT:C27781","SNOMEDCT:27849002","SNOMEDCT:404069006","medgen:104903","HP:0012268"],"information_content":83.6}
{"id":"MONDO:0013281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COG4-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0013281","DOID:0070262","OMIM:613489","orphanet:263501","UMLS:C4303552","SNOMEDCT:718751000","medgen:929221"],"information_content":100.0}
{"id":"MONDO:0013282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha 1-antitrypsin deficiency","equivalent_identifiers":["MONDO:0013282","DOID:13372","OMIM:613490","orphanet:60","UMLS:C0221757","MESH:D019896","MEDDRA:10001806","MEDDRA:10001811","MEDDRA:10083869","NCIT:C84397","SNOMEDCT:30188007","medgen:67461","icd11.foundation:824872160","ICD10:E88.01","ICD9:273.4"],"information_content":100.0}
{"id":"MONDO:0013287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia 2, autosomal recessive","equivalent_identifiers":["MONDO:0013287","DOID:0060024","DOID:0081135","OMIM:613500","UMLS:C3150750","medgen:462100"],"information_content":100.0}
{"id":"MONDO:0013288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia 3, autosomal recessive","equivalent_identifiers":["MONDO:0013288","DOID:0081137","OMIM:613501","UMLS:C3150751","medgen:462101"],"information_content":100.0}
{"id":"MONDO:0013289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia 4, autosomal recessive","equivalent_identifiers":["MONDO:0013289","DOID:0060027","OMIM:613502","UMLS:C3150752","medgen:462102"],"information_content":100.0}
{"id":"MONDO:0013290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia 5, autosomal dominant","equivalent_identifiers":["MONDO:0013290","DOID:0080588","OMIM:613506","UMLS:C3150753","medgen:462103"],"information_content":100.0}
{"id":"MONDO:0013291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease XV","equivalent_identifiers":["MONDO:0013291","DOID:0050579","OMIM:613507","orphanet:263297","UMLS:C3150754","UMLS:C4303568","SNOMEDCT:717821004","medgen:462104"],"information_content":100.0}
{"id":"MONDO:0013292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 4q21 deletion syndrome","equivalent_identifiers":["MONDO:0013292","DOID:0060420","OMIM:613509","orphanet:238750","UMLS:C3150756","UMLS:C4304530","SNOMEDCT:719660008","medgen:462106"],"information_content":100.0}
{"id":"MONDO:0013293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia 6","equivalent_identifiers":["MONDO:0013293","DOID:0060835","OMIM:613517","UMLS:C3150757","medgen:462107","ICD10:Q11.0"],"information_content":100.0}
{"id":"MONDO:0013296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid neoplasm associated with FGFR1 rearrangement","equivalent_identifiers":["MONDO:0013296","DOID:0080167","OMIM:613523","orphanet:168953","UMLS:C3150773","NCIT:C84277","SNOMEDCT:450942006","SNOMEDCT:721301004","medgen:462123","icd11.foundation:2019647878"],"information_content":90.9}
{"id":"MONDO:0013297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant limb-girdle muscular dystrophy type 1H","equivalent_identifiers":["MONDO:0013297","DOID:0110303","OMIM:613530","UMLS:C3150786","SNOMEDCT:771334000","medgen:462136"],"information_content":100.0}
{"id":"MONDO:0013298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 17q21.31 duplication syndrome","equivalent_identifiers":["MONDO:0013298","DOID:0060434","OMIM:613533","orphanet:217340","UMLS:C4274345","SNOMEDCT:716683005","medgen:901723"],"information_content":100.0}
{"id":"MONDO:0013299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 6q11-q14 deletion syndrome","equivalent_identifiers":["MONDO:0013299","DOID:0060423","OMIM:613544","UMLS:C3150790","UMLS:C3150791","medgen:462140"],"information_content":100.0}
{"id":"MONDO:0013300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Macrostomia","equivalent_identifiers":["MONDO:0013300","OMIM:613545","orphanet:141276","UMLS:C0024433","UMLS:C3150792","MESH:D008265","MEDDRA:10025395","SNOMEDCT:40159009","medgen:462142","icd11.foundation:1460924303","HP:0000154"],"information_content":95.4}
{"id":"MONDO:0013301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aromatase deficiency","equivalent_identifiers":["MONDO:0013301","OMIM:613546","orphanet:91","UMLS:C1960539","UMLS:C3891159","MESH:C537436","NCIT:C120144","SNOMEDCT:427627006","medgen:743307","icd11.foundation:260189446"],"information_content":100.0}
{"id":"MONDO:0013302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 11","equivalent_identifiers":["MONDO:0013302","DOID:0111118","OMIM:613550","UMLS:C3150796","medgen:462146"],"information_content":100.0}
{"id":"MONDO:0013303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune disease, susceptibility to, 6","equivalent_identifiers":["MONDO:0013303","OMIM:613551","UMLS:C3150797","medgen:462147"],"information_content":100.0}
{"id":"MONDO:0013304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Willebrand disease 2","equivalent_identifiers":["MONDO:0013304","DOID:0060574","OMIM:613554","orphanet:166081","UMLS:C1264040","MESH:D056728","SNOMEDCT:128107007","medgen:224736","ICD10:D68.02"],"information_content":89.4}
{"id":"MONDO:0013305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 51","equivalent_identifiers":["MONDO:0013305","DOID:0110577","OMIM:613558","UMLS:C3160736","medgen:463625"],"information_content":100.0}
{"id":"MONDO:0013306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 7","equivalent_identifiers":["MONDO:0013306","DOID:0111487","OMIM:613559","orphanet:254930","UMLS:C3150801","SNOMEDCT:763204003","medgen:462151"],"information_content":100.0}
{"id":"MONDO:0013307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, lactic acidosis, and sideroblastic anemia 2","equivalent_identifiers":["MONDO:0013307","DOID:0111186","OMIM:613561","UMLS:C3150802","medgen:462152"],"information_content":100.0}
{"id":"MONDO:0013308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CBL-related disorder","equivalent_identifiers":["MONDO:0013308","OMIM:613563","orphanet:363972","UMLS:C3150803","NCIT:C176942","NCIT:C198681","medgen:462153"],"information_content":90.9}
{"id":"MONDO:0013309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 2p12-p11.2 deletion syndrome","equivalent_identifiers":["MONDO:0013309","DOID:0060414","OMIM:613564","UMLS:C3150804","medgen:462154"],"information_content":100.0}
{"id":"MONDO:0013310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency","equivalent_identifiers":["MONDO:0013310","DOID:0080925","OMIM:613571","orphanet:95699","UMLS:C1860042","UMLS:C4330909","NCIT:C131302","NCIT:C174439","SNOMEDCT:715733000","medgen:348008","icd11.foundation:497412536"],"information_content":100.0}
{"id":"MONDO:0013311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia-syndactyly syndrome","equivalent_identifiers":["MONDO:0013311","OMIM.PS:613573","orphanet:247820","UMLS:C4749852","SNOMEDCT:771335004","medgen:1648397"],"information_content":92.8}
{"id":"MONDO:0013312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 55","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013312","DOID:0110370","OMIM:613575","UMLS:C3150808","medgen:462158"],"information_content":100.0}
{"id":"MONDO:0013313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia-cutaneous syndactyly syndrome","equivalent_identifiers":["MONDO:0013313","OMIM:613576","orphanet:247827","UMLS:C3150809","medgen:462159"],"information_content":100.0}
{"id":"MONDO:0013314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 56","equivalent_identifiers":["MONDO:0013314","DOID:0110371","OMIM:613581","UMLS:C3150819","medgen:462169"],"information_content":100.0}
{"id":"MONDO:0013315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 57","equivalent_identifiers":["MONDO:0013315","DOID:0110407","OMIM:613582","UMLS:C3150821","medgen:462171"],"information_content":100.0}
{"id":"MONDO:0013316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"occult macular dystrophy","equivalent_identifiers":["MONDO:0013316","DOID:0050578","OMIM:613587","orphanet:247834","UMLS:C3150833","SNOMEDCT:770667002","medgen:462183","icd11.foundation:863463706","HP:0030636"],"information_content":100.0}
{"id":"MONDO:0013319","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 4Q32.1-q32.2 triplication syndrome","equivalent_identifiers":["MONDO:0013319","OMIM:613603","UMLS:C3150857","medgen:462207"],"information_content":100.0}
{"id":"MONDO:0013320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 16p12.2-p11.2 deletion syndrome","equivalent_identifiers":["MONDO:0013320","DOID:0060400","OMIM:613604","orphanet:261211","UMLS:C3150858","UMLS:C4304597","SNOMEDCT:719576009","medgen:462208"],"information_content":100.0}
{"id":"MONDO:0013321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"forsythe-wakeling syndrome","equivalent_identifiers":["MONDO:0013321","OMIM:613606","UMLS:C3150859","medgen:462209"],"information_content":100.0}
{"id":"MONDO:0013322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial adult myoclonic, 3","equivalent_identifiers":["MONDO:0013322","DOID:0111695","OMIM:613608","UMLS:C3150860","MESH:C567098","medgen:462210"],"information_content":100.0}
{"id":"MONDO:0013323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranioectodermal dysplasia 2","equivalent_identifiers":["MONDO:0013323","DOID:0080804","OMIM:613610","UMLS:C3150874","medgen:462224"],"information_content":100.0}
{"id":"MONDO:0013324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphedema-posterior choanal atresia syndrome","equivalent_identifiers":["MONDO:0013324","OMIM:613611","orphanet:99141","UMLS:C3150875","SNOMEDCT:1204421005","medgen:462225"],"information_content":100.0}
{"id":"MONDO:0013325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COG5-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0013325","DOID:0070261","OMIM:613612","orphanet:263487","UMLS:C3150876","SNOMEDCT:721100009","medgen:462226"],"information_content":100.0}
{"id":"MONDO:0013326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Loken syndrome 7","equivalent_identifiers":["MONDO:0013326","OMIM:613615","UMLS:C3150877","medgen:462227"],"information_content":100.0}
{"id":"MONDO:0013327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary hyperoxaluria type 3","equivalent_identifiers":["MONDO:0013327","DOID:0111672","OMIM:613616","orphanet:93600","UMLS:C3150878","NCIT:C123214","SNOMEDCT:734990008","medgen:462228"],"information_content":100.0}
{"id":"MONDO:0013328","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 58","equivalent_identifiers":["MONDO:0013328","DOID:0110362","OMIM:613617","UMLS:C3150879","medgen:462229"],"information_content":100.0}
{"id":"MONDO:0013329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial clubfoot due to 17q23.1q23.2 microduplication","equivalent_identifiers":["MONDO:0013329","OMIM:613618","orphanet:238578","UMLS:C3150880","medgen:462230"],"information_content":100.0}
{"id":"MONDO:0013331","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor 5 and Factor VIII, combined deficiency of, 2","equivalent_identifiers":["MONDO:0013331","OMIM:613625","UMLS:C3150889","medgen:462239"],"information_content":100.0}
{"id":"MONDO:0013333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontoid hypoplasia","equivalent_identifiers":["MONDO:0013333","OMIM:613628","UMLS:C1846439","MEDDRA:10087748","NCIT:C86969","medgen:339524","HP:0003311"],"information_content":100.0}
{"id":"MONDO:0013334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cocoon syndrome","equivalent_identifiers":["MONDO:0013334","DOID:0060647","OMIM:613630","orphanet:465824","UMLS:C3150891","SNOMEDCT:1220575002","medgen:462241"],"information_content":100.0}
{"id":"MONDO:0013336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 19p13.13 deletion syndrome","equivalent_identifiers":["MONDO:0013336","DOID:0060426","OMIM:613638","orphanet:357001","UMLS:C3150894","UMLS:C3150895","SNOMEDCT:764440006","medgen:462244"],"information_content":100.0}
{"id":"MONDO:0013337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary sensory and autonomic, type 1C","equivalent_identifiers":["MONDO:0013337","DOID:0070157","OMIM:613640","UMLS:C3150896","SNOMEDCT:860814001","medgen:462246"],"information_content":100.0}
{"id":"MONDO:0013338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease recessive intermediate B","equivalent_identifiers":["MONDO:0013338","DOID:0110204","OMIM:613641","orphanet:254334","UMLS:C3150897","medgen:462247"],"information_content":100.0}
{"id":"MONDO:0013339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1GG","equivalent_identifiers":["MONDO:0013339","DOID:0110435","OMIM:613642","UMLS:C3150898","medgen:462248"],"information_content":100.0}
{"id":"MONDO:0013340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 5, autosomal dominant, susceptibility to","equivalent_identifiers":["MONDO:0013340","OMIM:613643","UMLS:C3150899","medgen:462249"],"information_content":100.0}
{"id":"MONDO:0013341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic acidemia due to transcobalamin receptor defect","equivalent_identifiers":["MONDO:0013341","DOID:0060741","OMIM:613646","orphanet:280183","UMLS:C4749905","NCIT:C183527","SNOMEDCT:771444002","medgen:1670056"],"information_content":100.0}
{"id":"MONDO:0013342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 48","equivalent_identifiers":["MONDO:0013342","DOID:0110800","OMIM:613647","orphanet:306511","UMLS:C3150901","SNOMEDCT:763367009","medgen:462251"],"information_content":100.0}
{"id":"MONDO:0013344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"migraine, with or without aura, susceptibility to, 13","equivalent_identifiers":["MONDO:0013344","OMIM:613656","UMLS:C4225479","medgen:900808"],"information_content":100.0}
{"id":"MONDO:0013345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"d-2-hydroxyglutaric aciduria 2","equivalent_identifiers":["MONDO:0013345","DOID:0111352","OMIM:613657","UMLS:C3150909","medgen:462259"],"information_content":100.0}
{"id":"MONDO:0013348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 15","equivalent_identifiers":["MONDO:0013348","DOID:0111021","OMIM:613660","UMLS:C3150912","UMLS:C5829994","medgen:462262"],"information_content":100.0}
{"id":"MONDO:0013349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALG11-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0013349","DOID:0080567","OMIM:613661","orphanet:280071","UMLS:C3150913","SNOMEDCT:733085004","medgen:462263"],"information_content":100.0}
{"id":"MONDO:0013350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 4b","equivalent_identifiers":["MONDO:0013350","DOID:0080123","OMIM:613662","UMLS:C3150914","medgen:462264"],"information_content":100.0}
{"id":"MONDO:0013351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly","equivalent_identifiers":["MONDO:0013351","DOID:0111262","OMIM:613668","orphanet:402364","UMLS:C3150921","medgen:462271"],"information_content":100.0}
{"id":"MONDO:0013352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-severe speech delay-mild dysmorphism syndrome","equivalent_identifiers":["MONDO:0013352","DOID:0111331","OMIM:613670","orphanet:391372","UMLS:C4013764","medgen:862201"],"information_content":100.0}
{"id":"MONDO:0013353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, anterior maxillary protrusion, and strabismus","equivalent_identifiers":["MONDO:0013353","OMIM:613671","orphanet:562559","UMLS:C3150924","SNOMEDCT:1222706005","medgen:462274"],"information_content":100.0}
{"id":"MONDO:0013354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia 4","equivalent_identifiers":["MONDO:0013354","DOID:0050943","OMIM:613672","orphanet:254343","UMLS:C3150925","SNOMEDCT:784347002","medgen:462275"],"information_content":100.0}
{"id":"MONDO:0013355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital dyserythropoietic anemia type 4","equivalent_identifiers":["MONDO:0013355","DOID:0111400","OMIM:613673","orphanet:293825","UMLS:C3150926","NCIT:C157148","SNOMEDCT:719453009","medgen:462276"],"information_content":100.0}
{"id":"MONDO:0013356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vesicoureteral reflux 3","equivalent_identifiers":["MONDO:0013356","OMIM:613674","UMLS:C3150927","medgen:462277"],"information_content":100.0}
{"id":"MONDO:0013358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 4","equivalent_identifiers":["MONDO:0013358","DOID:0070010","OMIM:613676","UMLS:C3888212","medgen:854819"],"information_content":100.0}
{"id":"MONDO:0013359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hyperaldosteronism type III","equivalent_identifiers":["MONDO:0013359","OMIM:613677","orphanet:251274","UMLS:C3838758","NCIT:C127163","SNOMEDCT:703234002","medgen:824604"],"information_content":100.0}
{"id":"MONDO:0013360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachyolmia, Maroteaux type","equivalent_identifiers":["MONDO:0013360","OMIM:613678","orphanet:93302","UMLS:C5399913","MESH:C563218","MEDDRA:10081834","SNOMEDCT:389165004","medgen:1777254"],"information_content":100.0}
{"id":"MONDO:0013361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital prothrombin deficiency","equivalent_identifiers":["MONDO:0013361","DOID:2235","OMIM:613679","orphanet:325","UMLS:C0272317","UMLS:C3203356","MESH:C562724","MESH:D007020","MEDDRA:10016076","MEDDRA:10021085","MEDDRA:10037045","MEDDRA:10054431","NCIT:C131737","NCIT:C26799","SNOMEDCT:33297000","SNOMEDCT:73975000","medgen:124425"],"information_content":90.9}
{"id":"MONDO:0013362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome","equivalent_identifiers":["MONDO:0013362","OMIM:613680","orphanet:363444","UMLS:C3150939","SNOMEDCT:773554009","medgen:462289"],"information_content":100.0}
{"id":"MONDO:0013363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 2q31.1 duplication syndrome","equivalent_identifiers":["MONDO:0013363","DOID:0060458","OMIM:613681","orphanet:294026","UMLS:C3150940","medgen:462290"],"information_content":100.0}
{"id":"MONDO:0013364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency","equivalent_identifiers":["MONDO:0013364","OMIM:613684","orphanet:353284","UMLS:C3150941","NCIT:C153291","medgen:462291"],"information_content":100.0}
{"id":"MONDO:0013365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 83","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013365","DOID:0110528","OMIM:613685","UMLS:C3888310","medgen:854856"],"information_content":100.0}
{"id":"MONDO:0013366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocostal dysostosis 4, autosomal recessive","equivalent_identifiers":["MONDO:0013366","DOID:0112364","OMIM:613686","UMLS:C3150942","medgen:462292"],"information_content":100.0}
{"id":"MONDO:0013367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 2","equivalent_identifiers":["MONDO:0013367","DOID:0110645","OMIM:613688","UMLS:C3150943","UMLS:C3279092","MESH:C563614","NCIT:C137957","medgen:462293"],"information_content":100.0}
{"id":"MONDO:0013368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mammary-digital-nail syndrome","equivalent_identifiers":["MONDO:0013368","OMIM:613689","orphanet:238744","UMLS:C3150946","SNOMEDCT:718679004","medgen:462296"],"information_content":100.0}
{"id":"MONDO:0013369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 7","equivalent_identifiers":["MONDO:0013369","DOID:0110313","OMIM:613690","UMLS:C1860752","NCIT:C184989","medgen:348695"],"information_content":100.0}
{"id":"MONDO:0013370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 6","equivalent_identifiers":["MONDO:0013370","DOID:0110648","OMIM:613693","UMLS:C3150953","UMLS:C3150954","UMLS:C3276241","MESH:C566333","medgen:462303"],"information_content":100.0}
{"id":"MONDO:0013371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1U","equivalent_identifiers":["MONDO:0013371","DOID:0110455","OMIM:613694","UMLS:C3160720","MESH:C566296","medgen:463620"],"information_content":100.0}
{"id":"MONDO:0013372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 5","equivalent_identifiers":["MONDO:0013372","DOID:0110647","OMIM:613695","UMLS:C1867904","UMLS:C3150956","MESH:C566766","MEDDRA:10091020","NCIT:C172094","medgen:358092"],"information_content":95.4}
{"id":"MONDO:0013373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1V","equivalent_identifiers":["MONDO:0013373","DOID:0110427","OMIM:613697","UMLS:C3150958","MESH:C566856","medgen:462308"],"information_content":100.0}
{"id":"MONDO:0013375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Klippel-Feil syndrome 3, autosomal dominant","equivalent_identifiers":["MONDO:0013375","DOID:0080591","OMIM:613702","UMLS:C3150967","medgen:462317"],"information_content":100.0}
{"id":"MONDO:0013376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with coloboma 6","equivalent_identifiers":["MONDO:0013376","OMIM:613703","UMLS:C3150968","medgen:462318"],"information_content":100.0}
{"id":"MONDO:0013377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia 7","equivalent_identifiers":["MONDO:0013377","DOID:0060838","OMIM:613704","UMLS:C3150969","medgen:462319"],"information_content":100.0}
{"id":"MONDO:0013378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 10","equivalent_identifiers":["MONDO:0013378","DOID:0080403","OMIM:613705","UMLS:C1866070","MESH:C566605","medgen:355621"],"information_content":100.0}
{"id":"MONDO:0013379","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 7","equivalent_identifiers":["MONDO:0013379","DOID:0060585","OMIM:613706","UMLS:C3150970","NCIT:C176935","medgen:462320"],"information_content":100.0}
{"id":"MONDO:0013380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LEOPARD syndrome 3","equivalent_identifiers":["MONDO:0013380","DOID:0080550","OMIM:613707","UMLS:C3150971","medgen:462321"],"information_content":100.0}
{"id":"MONDO:0013381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary sensory, type 1D","equivalent_identifiers":["MONDO:0013381","DOID:0070156","OMIM:613708","UMLS:C3150972","medgen:462322"],"information_content":100.0}
{"id":"MONDO:0013382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive demyelinating neuropathy with bilateral striatal necrosis","equivalent_identifiers":["MONDO:0013382","OMIM:613710","orphanet:217396","UMLS:C3150973","SNOMEDCT:771305006","medgen:462323"],"information_content":100.0}
{"id":"MONDO:0013383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease, susceptibility to, 3","equivalent_identifiers":["MONDO:0013383","OMIM:613711","UMLS:C2931739","UMLS:C3150974","MESH:C538121","medgen:462324"],"information_content":100.0}
{"id":"MONDO:0013384","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease, susceptibility to, 4","equivalent_identifiers":["MONDO:0013384","OMIM:613712","UMLS:C3150975","medgen:462325"],"information_content":100.0}
{"id":"MONDO:0013385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Treacher Collins syndrome 2","equivalent_identifiers":["MONDO:0013385","DOID:0080790","OMIM:613717","UMLS:C3150983","medgen:462333"],"information_content":100.0}
{"id":"MONDO:0013386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 74","equivalent_identifiers":["MONDO:0013386","DOID:0110523","OMIM:613718","UMLS:C2239351","medgen:453237"],"information_content":100.0}
{"id":"MONDO:0013387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 7","equivalent_identifiers":["MONDO:0013387","DOID:0080462","OMIM:613720","orphanet:439218","UMLS:C3150986","NCIT:C192087","medgen:462336"],"information_content":100.0}
{"id":"MONDO:0013388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 11","equivalent_identifiers":["MONDO:0013388","DOID:0080421","OMIM:613721","UMLS:C3150987","NCIT:C172096","medgen:462337"],"information_content":100.0}
{"id":"MONDO:0013389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 12","equivalent_identifiers":["MONDO:0013389","DOID:0080459","OMIM:613722","UMLS:C3150988","medgen:462338"],"information_content":100.0}
{"id":"MONDO:0013390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2Q","equivalent_identifiers":["MONDO:0013390","DOID:0110285","OMIM:613723","orphanet:254361","UMLS:C3150989","SNOMEDCT:726615005","medgen:462339"],"information_content":100.0}
{"id":"MONDO:0013391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sterol carrier protein 2 deficiency","equivalent_identifiers":["MONDO:0013391","OMIM:613724","orphanet:163684","UMLS:C3150990","SNOMEDCT:1296861002","medgen:462340"],"information_content":100.0}
{"id":"MONDO:0013392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spinocerebellar ataxia 10","equivalent_identifiers":["MONDO:0013392","DOID:0050999","OMIM:613728","orphanet:284289","UMLS:C3150998","SNOMEDCT:785302009","medgen:462348"],"information_content":100.0}
{"id":"MONDO:0013393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal 7q11.23 microdeletion syndrome","equivalent_identifiers":["MONDO:0013393","OMIM:613729","orphanet:254351","UMLS:C3150999","medgen:462349"],"information_content":100.0}
{"id":"MONDO:0013394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porencephaly-microcephaly-bilateral congenital cataract syndrome","equivalent_identifiers":["MONDO:0013394","OMIM:613730","orphanet:306547","UMLS:C3151000","medgen:462350"],"information_content":100.0}
{"id":"MONDO:0013395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 4","equivalent_identifiers":["MONDO:0013395","DOID:0110372","OMIM:613731","UMLS:C3151001","MESH:C566706","medgen:462351"],"information_content":100.0}
{"id":"MONDO:0013396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 1p32-p31 deletion syndrome","equivalent_identifiers":["MONDO:0013396","DOID:0060409","orphanet:401986","UMLS:C2930944","UMLS:C4707828","MESH:C535594","SNOMEDCT:766766005","medgen:1636078"],"information_content":100.0}
{"id":"MONDO:0013397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acne inversa, familial, 2","equivalent_identifiers":["MONDO:0013397","OMIM:613736","UMLS:C3151037","medgen:462387"],"information_content":100.0}
{"id":"MONDO:0013398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acne inversa, familial, 3","equivalent_identifiers":["MONDO:0013398","OMIM:613737","UMLS:C3151038","medgen:462388"],"information_content":100.0}
{"id":"MONDO:0013400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency","equivalent_identifiers":["MONDO:0013400","DOID:0050546","OMIM:613743","orphanet:168558","UMLS:C3151055","UMLS:C3502131","MESH:C566130","NCIT:C131422","medgen:462405"],"information_content":100.0}
{"id":"MONDO:0013401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 51","equivalent_identifiers":["MONDO:0013401","DOID:0110803","OMIM:613744","UMLS:C3151056","medgen:462406"],"information_content":100.0}
{"id":"MONDO:0013402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 27","equivalent_identifiers":["MONDO:0013402","DOID:0110397","OMIM:613750","UMLS:C1834329","UMLS:C1834330","MESH:C563526","MESH:C563527","medgen:320323"],"information_content":100.0}
{"id":"MONDO:0013403","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterotaxy, visceral, 4, autosomal","equivalent_identifiers":["MONDO:0013403","DOID:0051019","OMIM:613751","UMLS:C3151057","medgen:462407"],"information_content":100.0}
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{"id":"MONDO:0013405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 49","equivalent_identifiers":["MONDO:0013405","DOID:0110377","OMIM:613756","UMLS:C3151059","medgen:462409"],"information_content":100.0}
{"id":"MONDO:0013406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 6","equivalent_identifiers":["MONDO:0013406","DOID:0110018","OMIM:613757","UMLS:C3151060","MESH:C563674","medgen:462410"],"information_content":100.0}
{"id":"MONDO:0013407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 47","equivalent_identifiers":["MONDO:0013407","DOID:0110369","OMIM:613758","UMLS:C3151061","medgen:462411"],"information_content":100.0}
{"id":"MONDO:0013408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FADD-related immunodeficiency","equivalent_identifiers":["MONDO:0013408","DOID:0061060","OMIM:613759","orphanet:306550","UMLS:C3151062","UMLS:C4509831","SNOMEDCT:723334006","medgen:462412","icd11.foundation:440676168"],"information_content":100.0}
{"id":"MONDO:0013409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 5","equivalent_identifiers":["MONDO:0013409","DOID:0110028","OMIM:613761","UMLS:C3151063","medgen:462413"],"information_content":100.0}
{"id":"MONDO:0013410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 6","equivalent_identifiers":["MONDO:0013410","DOID:0111769","OMIM:613762","UMLS:C3151064","medgen:462414"],"information_content":100.0}
{"id":"MONDO:0013411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 16 multiple types","equivalent_identifiers":["MONDO:0013411","DOID:0110250","OMIM:613763","UMLS:C3151065","UMLS:C3808377","MESH:C565134","medgen:814707"],"information_content":92.8}
{"id":"MONDO:0013412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 9","equivalent_identifiers":["MONDO:0013412","DOID:0110315","OMIM:613765","UMLS:C1861065","MESH:C566044","medgen:348780"],"information_content":100.0}
{"id":"MONDO:0013413","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 45","equivalent_identifiers":["MONDO:0013413","DOID:0110402","OMIM:613767","UMLS:C3151066","medgen:462416"],"information_content":100.0}
{"id":"MONDO:0013414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 44","equivalent_identifiers":["MONDO:0013414","DOID:0110394","OMIM:613769","UMLS:C3151068","medgen:462418"],"information_content":100.0}
{"id":"MONDO:0013415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 17p13.1 deletion syndrome","equivalent_identifiers":["MONDO:0013415","DOID:0060402","OMIM:613776","UMLS:C1955870","UMLS:C3151069","MESH:D054221","medgen:462419"],"information_content":95.4}
{"id":"MONDO:0013416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 8","equivalent_identifiers":["MONDO:0013416","DOID:0110020","OMIM:613778","UMLS:C3151070","medgen:462420"],"information_content":100.0}
{"id":"MONDO:0013417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C3 Deficiency","equivalent_identifiers":["MONDO:0013417","DOID:8354","OMIM:613779","orphanet:280133","UMLS:C1332655","UMLS:C3151071","MESH:C565169","NCIT:C9468","SNOMEDCT:771443008","medgen:462421"],"information_content":90.9}
{"id":"MONDO:0013418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm, familial thoracic 7","equivalent_identifiers":["MONDO:0013418","OMIM:613780","UMLS:C3151077","medgen:462427"],"information_content":100.0}
{"id":"MONDO:0013419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement component C1s deficiency","equivalent_identifiers":["MONDO:0013419","OMIM:613783","UMLS:C3151078","MESH:C565170","medgen:462428"],"information_content":100.0}
{"id":"MONDO:0013420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 12","equivalent_identifiers":["MONDO:0013420","DOID:0110024","OMIM:613784","UMLS:C3151079","medgen:462429"],"information_content":100.0}
{"id":"MONDO:0013421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type II complement component 8 deficiency","equivalent_identifiers":["MONDO:0013421","DOID:0060302","OMIM:613789","UMLS:C3151080","medgen:462430"],"information_content":100.0}
{"id":"MONDO:0013422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type I complement component 8 deficiency","equivalent_identifiers":["MONDO:0013422","DOID:0060301","OMIM:613790","UMLS:C3151081","medgen:462431"],"information_content":100.0}
{"id":"MONDO:0013423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency due to MASP-2 deficiency","equivalent_identifiers":["MONDO:0013423","OMIM:613791","orphanet:331187","UMLS:C3151085","MESH:C565360","medgen:462435"],"information_content":100.0}
{"id":"MONDO:0013424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3p- syndrome","equivalent_identifiers":["MONDO:0013424","DOID:0060417","OMIM:613792","orphanet:1620","UMLS:C0795806","UMLS:C4706503","MESH:C536804","SNOMEDCT:449819002","SNOMEDCT:763528002","medgen:1643555"],"information_content":100.0}
{"id":"MONDO:0013425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 20","equivalent_identifiers":["MONDO:0013425","DOID:0110353","OMIM:613794","UMLS:C3151086","MESH:C566718","medgen:462436"],"information_content":100.0}
{"id":"MONDO:0013426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aneurysm-osteoarthritis syndrome","equivalent_identifiers":["MONDO:0013426","DOID:0070237","OMIM:613795","orphanet:284984","UMLS:C3151087","UMLS:C4760764","NCIT:C186786","SNOMEDCT:785808002","medgen:462437"],"information_content":100.0}
{"id":"MONDO:0013427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 31B","equivalent_identifiers":["MONDO:0013427","DOID:0111944","OMIM:613796","orphanet:391311","UMLS:C3151088","medgen:462438"],"information_content":100.0}
{"id":"MONDO:0013428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome 2","equivalent_identifiers":["MONDO:0013428","DOID:0080513","OMIM:613800","UMLS:C3151097","medgen:462447"],"information_content":100.0}
{"id":"MONDO:0013429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 40","equivalent_identifiers":["MONDO:0013429","DOID:0110375","OMIM:613801","UMLS:C3151107","medgen:462457"],"information_content":100.0}
{"id":"MONDO:0013430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome 3","equivalent_identifiers":["MONDO:0013430","DOID:0080514","OMIM:613803","UMLS:C3151113","medgen:462463"],"information_content":100.0}
{"id":"MONDO:0013431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome 4","equivalent_identifiers":["MONDO:0013431","DOID:0080515","OMIM:613804","UMLS:C3151120","medgen:462470"],"information_content":100.0}
{"id":"MONDO:0013432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome 5","equivalent_identifiers":["MONDO:0013432","DOID:0080516","OMIM:613805","UMLS:C3151126","medgen:462476"],"information_content":100.0}
{"id":"MONDO:0013433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary sclerosing cholangitis","equivalent_identifiers":["MONDO:0013433","DOID:0060643","OMIM:613806","orphanet:171","UMLS:C0566602","MEDDRA:10036732","SNOMEDCT:197441003","medgen:107565","icd11.foundation:857962451","ICD10:K83.01"],"information_content":95.4}
{"id":"MONDO:0013434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 14","equivalent_identifiers":["MONDO:0013434","DOID:0110598","OMIM:613807","UMLS:C3151136","NCIT:C148370","medgen:462486"],"information_content":100.0}
{"id":"MONDO:0013435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 15","equivalent_identifiers":["MONDO:0013435","DOID:0110623","OMIM:613808","UMLS:C3151137","NCIT:C155999","medgen:462487"],"information_content":100.0}
{"id":"MONDO:0013436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 39","equivalent_identifiers":["MONDO:0013436","DOID:0110360","OMIM:613809","UMLS:C3151138","medgen:462488"],"information_content":100.0}
{"id":"MONDO:0013437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 43","equivalent_identifiers":["MONDO:0013437","DOID:0110379","OMIM:613810","UMLS:C3151139","medgen:462489"],"information_content":100.0}
{"id":"MONDO:0013438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 2D","equivalent_identifiers":["MONDO:0013438","DOID:0060270","OMIM:613811","UMLS:C3151140","SNOMEDCT:1208481000","medgen:462490"],"information_content":100.0}
{"id":"MONDO:0013439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bile acid synthesis defect 3","equivalent_identifiers":["MONDO:0013439","DOID:0111070","OMIM:613812","orphanet:79302","UMLS:C3151147","UMLS:C4304715","MESH:C566340","SNOMEDCT:719454003","medgen:462497"],"information_content":100.0}
{"id":"MONDO:0013440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2P","equivalent_identifiers":["MONDO:0013440","DOID:0110293","OMIM:613818","orphanet:280333","UMLS:C4511963","SNOMEDCT:726614009","medgen:1386785"],"information_content":100.0}
{"id":"MONDO:0013441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asphyxiating thoracic dystrophy 4","equivalent_identifiers":["MONDO:0013441","DOID:0110088","OMIM:613819","UMLS:C3151185","medgen:462535"],"information_content":100.0}
{"id":"MONDO:0013442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 12","equivalent_identifiers":["MONDO:0013442","DOID:0111119","OMIM:613820","UMLS:C3151186","medgen:462536"],"information_content":100.0}
{"id":"MONDO:0013443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 5","equivalent_identifiers":["MONDO:0013443","DOID:0070012","OMIM:613823","UMLS:C3151187","medgen:462537"],"information_content":100.0}
{"id":"MONDO:0013444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 9","equivalent_identifiers":["MONDO:0013444","DOID:0111120","OMIM:613824","UMLS:C3151188","medgen:462538"],"information_content":100.0}
{"id":"MONDO:0013445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C9 Deficiency","equivalent_identifiers":["MONDO:0013445","DOID:0060303","OMIM:613825","UMLS:C3151189","MESH:C565165","medgen:462539"],"information_content":100.0}
{"id":"MONDO:0013446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 6","equivalent_identifiers":["MONDO:0013446","DOID:0110329","OMIM:613826","UMLS:C1854260","MESH:C565327","medgen:344245"],"information_content":100.0}
{"id":"MONDO:0013447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 48","equivalent_identifiers":["MONDO:0013447","DOID:0110382","OMIM:613827","UMLS:C3151190","medgen:462540"],"information_content":100.0}
{"id":"MONDO:0013449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 7","equivalent_identifiers":["MONDO:0013449","DOID:0110333","OMIM:613829","UMLS:C3151192","medgen:462542"],"information_content":100.0}
{"id":"MONDO:0013450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness 1D","equivalent_identifiers":["MONDO:0013450","DOID:0110868","OMIM:613830","UMLS:C3151193","medgen:462543"],"information_content":100.0}
{"id":"MONDO:0013452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multisystemic smooth muscle dysfunction syndrome","equivalent_identifiers":["MONDO:0013452","OMIM:613834","orphanet:404463","UMLS:C3151201","SNOMEDCT:782724001","medgen:462551"],"information_content":100.0}
{"id":"MONDO:0013453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 8","equivalent_identifiers":["MONDO:0013453","DOID:0110079","OMIM:613835","UMLS:C3151202","medgen:462552"],"information_content":100.0}
{"id":"MONDO:0013454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 11","equivalent_identifiers":["MONDO:0013454","DOID:0110216","OMIM:613837","UMLS:C1840284","MESH:C564140","medgen:326698"],"information_content":100.0}
{"id":"MONDO:0013455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 16","equivalent_identifiers":["MONDO:0013455","DOID:0110322","OMIM:613838","UMLS:C3151204","medgen:462554"],"information_content":100.0}
{"id":"MONDO:0013456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"constitutional megaloblastic anemia with severe neurologic disease","equivalent_identifiers":["MONDO:0013456","OMIM:613839","orphanet:319651","UMLS:C0268608","UMLS:C3151205","MESH:C565095","SNOMEDCT:124178006","SNOMEDCT:866092006","medgen:462555"],"information_content":100.0}
{"id":"MONDO:0013457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 15","equivalent_identifiers":["MONDO:0013457","DOID:0110189","OMIM:613843","UMLS:C3151206","medgen:462556"],"information_content":100.0}
{"id":"MONDO:0013458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome","equivalent_identifiers":["MONDO:0013458","OMIM:613845","orphanet:363694","UMLS:C3151209","SNOMEDCT:776416004","medgen:462559"],"information_content":100.0}
{"id":"MONDO:0013459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 10","equivalent_identifiers":["MONDO:0013459","DOID:0110346","OMIM:613848","UMLS:C3151211","medgen:462561"],"information_content":100.0}
{"id":"MONDO:0013460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 12","equivalent_identifiers":["MONDO:0013460","DOID:0110348","OMIM:613849","UMLS:C3151433","medgen:462783"],"information_content":100.0}
{"id":"MONDO:0013461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inosine triphosphatase deficiency","equivalent_identifiers":["MONDO:0013461","OMIM:613850","UMLS:C0342800","MESH:C564127","NCIT:C129974","SNOMEDCT:238011005","medgen:452450"],"information_content":100.0}
{"id":"MONDO:0013462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fucosyltransferase 6 deficiency","equivalent_identifiers":["MONDO:0013462","OMIM:613852","UMLS:C3151219","medgen:462569"],"information_content":100.0}
{"id":"MONDO:0013463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital heart defects, multiple types, 6","equivalent_identifiers":["MONDO:0013463","DOID:0060772","OMIM:613854","UMLS:C3151221","medgen:462571"],"information_content":100.0}
{"id":"MONDO:0013464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic ataxia type 5","equivalent_identifiers":["MONDO:0013464","DOID:0050993","OMIM:613855","orphanet:211067","UMLS:C1866039","MESH:C566601","SNOMEDCT:718756005","medgen:356142"],"information_content":100.0}
{"id":"MONDO:0013465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achromatopsia 4","equivalent_identifiers":["MONDO:0013465","DOID:0110010","OMIM:613856","UMLS:C1841721","MESH:C564206","medgen:330669"],"information_content":100.0}
{"id":"MONDO:0013466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 13","equivalent_identifiers":["MONDO:0013466","DOID:0080406","OMIM:613857","UMLS:C3151222","medgen:462572"],"information_content":100.0}
{"id":"MONDO:0013467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency due to ficolin3 deficiency","equivalent_identifiers":["MONDO:0013467","OMIM:613860","orphanet:331190","UMLS:C3151226","UMLS:C4707940","SNOMEDCT:766705006","medgen:462576"],"information_content":100.0}
{"id":"MONDO:0013468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 59","equivalent_identifiers":["MONDO:0013468","DOID:0110352","OMIM:613861","UMLS:C3151227","medgen:462577"],"information_content":100.0}
{"id":"MONDO:0013469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 38","equivalent_identifiers":["MONDO:0013469","DOID:0110367","OMIM:613862","UMLS:C3151228","medgen:462578"],"information_content":100.0}
{"id":"MONDO:0013470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized epilepsy with febrile seizures plus, type 7","equivalent_identifiers":["MONDO:0013470","DOID:0111295","OMIM:613863","UMLS:C2751778","MESH:C567827","medgen:416630"],"information_content":100.0}
{"id":"MONDO:0013471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 61","equivalent_identifiers":["MONDO:0013471","DOID:0110513","OMIM:613865","UMLS:C3151230","medgen:462580"],"information_content":100.0}
{"id":"MONDO:0013472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatal infantile hypertonic myofibrillar myopathy","equivalent_identifiers":["MONDO:0013472","DOID:0080309","OMIM:613869","orphanet:280553","UMLS:C5190691","SNOMEDCT:782883004","medgen:1684001"],"information_content":100.0}
{"id":"MONDO:0013473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease, cardiac defects, and autonomic dysfunction","equivalent_identifiers":["MONDO:0013473","OMIM:613870","UMLS:C3151237","MESH:C563939","medgen:462587"],"information_content":100.0}
{"id":"MONDO:0013474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 17","equivalent_identifiers":["MONDO:0013474","DOID:0110323","OMIM:613873","UMLS:C3151264","NCIT:C172093","medgen:462614"],"information_content":100.0}
{"id":"MONDO:0013475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 18","equivalent_identifiers":["MONDO:0013475","DOID:0110324","OMIM:613874","UMLS:C3151265","medgen:462615"],"information_content":100.0}
{"id":"MONDO:0013477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 20","equivalent_identifiers":["MONDO:0013477","DOID:0110326","OMIM:613876","UMLS:C3151267","medgen:462617"],"information_content":100.0}
{"id":"MONDO:0013478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PLIN1-related familial partial lipodystrophy","equivalent_identifiers":["MONDO:0013478","DOID:0070205","OMIM:613877","orphanet:280356","UMLS:C5191005","SNOMEDCT:783616005","medgen:1675945"],"information_content":100.0}
{"id":"MONDO:0013479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1HH","equivalent_identifiers":["MONDO:0013479","DOID:0110448","OMIM:613881","UMLS:C3151293","NCIT:C192082","medgen:462643"],"information_content":100.0}
{"id":"MONDO:0013480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypomagnesemia 6","equivalent_identifiers":["MONDO:0013480","DOID:0060884","OMIM:613882","UMLS:C3151295","medgen:462645"],"information_content":100.0}
{"id":"MONDO:0013481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"del(13q14)","equivalent_identifiers":["MONDO:0013481","DOID:0060391","OMIM:613884","orphanet:1587","UMLS:C3151302","NCIT:C36421","medgen:462652"],"information_content":70.5}
{"id":"MONDO:0013482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 8","equivalent_identifiers":["MONDO:0013482","DOID:0070122","OMIM:613885","UMLS:C3836857","medgen:854220"],"information_content":100.0}
{"id":"MONDO:0013483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity, hyperphagia, and developmental delay","equivalent_identifiers":["MONDO:0013483","OMIM:613886","UMLS:C3151303","MESH:C563938","SNOMEDCT:1303867005","medgen:462653"],"information_content":100.0}
{"id":"MONDO:0013484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 36","equivalent_identifiers":["MONDO:0013484","DOID:0110247","OMIM:613887","UMLS:C3151304","medgen:462654"],"information_content":100.0}
{"id":"MONDO:0013485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 35","equivalent_identifiers":["MONDO:0013485","DOID:0050982","OMIM:613908","orphanet:276193","UMLS:C3888031","SNOMEDCT:719300001","medgen:854733","icd11.foundation:1674449075"],"information_content":100.0}
{"id":"MONDO:0013486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 32","equivalent_identifiers":["MONDO:0013486","OMIM:613909","orphanet:276183","UMLS:C3151343","SNOMEDCT:719254001","medgen:462693","icd11.foundation:1372046516"],"information_content":100.0}
{"id":"MONDO:0013487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recurrent Neisseria infections due to factor D deficiency","equivalent_identifiers":["MONDO:0013487","OMIM:613912","orphanet:169467","UMLS:C0398764","MESH:C565027","SNOMEDCT:234607008","medgen:97989","icd11.foundation:528757185"],"information_content":100.0}
{"id":"MONDO:0013488","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis","equivalent_identifiers":["MONDO:0013488","OMIM:613913","UMLS:C3151347","medgen:462697"],"information_content":100.0}
{"id":"MONDO:0013489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 89","equivalent_identifiers":["MONDO:0013489","DOID:0110534","OMIM:613916","UMLS:C3151351","medgen:462701"],"information_content":100.0}
{"id":"MONDO:0013490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephalic leukoencephalopathy with subcortical cysts 2A","equivalent_identifiers":["MONDO:0013490","DOID:0080318","OMIM:613925","UMLS:C3151355","medgen:462705"],"information_content":100.0}
{"id":"MONDO:0013491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability","equivalent_identifiers":["MONDO:0013491","DOID:0080317","OMIM:613926","UMLS:C3151356","medgen:462706"],"information_content":100.0}
{"id":"MONDO:0013492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia-intellectual disability syndrome 3","equivalent_identifiers":["MONDO:0013492","DOID:0080951","OMIM:613930","UMLS:C3151362","medgen:462712"],"information_content":100.0}
{"id":"MONDO:0013493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acetyl-coa carboxylase deficiency","equivalent_identifiers":["MONDO:0013493","OMIM:613933","UMLS:C0268603","MESH:C562678","SNOMEDCT:4920001","medgen:124338"],"information_content":100.0}
{"id":"MONDO:0013495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis 8","equivalent_identifiers":["MONDO:0013495","DOID:0060717","OMIM:613943","UMLS:C3553029","medgen:765943"],"information_content":100.0}
{"id":"MONDO:0013496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgA nephropathy, susceptibility to, 2","equivalent_identifiers":["MONDO:0013496","OMIM:613944","UMLS:C3151378","medgen:462728"],"information_content":100.0}
{"id":"MONDO:0013497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Okt4 epitope deficiency","equivalent_identifiers":["MONDO:0013497","OMIM:613949","UMLS:C3151379","medgen:462729"],"information_content":100.0}
{"id":"MONDO:0013498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 15","equivalent_identifiers":["MONDO:0013498","DOID:0070091","OMIM:613950","UMLS:C3151380","medgen:462730"],"information_content":100.0}
{"id":"MONDO:0013499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group P","equivalent_identifiers":["MONDO:0013499","DOID:0111092","OMIM:613951","UMLS:C3469542","medgen:854020"],"information_content":100.0}
{"id":"MONDO:0013500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 51","equivalent_identifiers":["MONDO:0013500","DOID:0111996","OMIM:613953","UMLS:C4310803","medgen:934770"],"information_content":100.0}
{"id":"MONDO:0013501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontotemporal dementia and/or amyotrophic lateral sclerosis 6","equivalent_identifiers":["MONDO:0013501","DOID:0060205","OMIM:613954","UMLS:C5436279","medgen:1759760"],"information_content":100.0}
{"id":"MONDO:0013502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyloidosis, primary localized cutaneous, 2","equivalent_identifiers":["MONDO:0013502","DOID:0080931","OMIM:613955","UMLS:C3151404","medgen:462754"],"information_content":100.0}
{"id":"MONDO:0013503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"candidiasis, familial, 6","equivalent_identifiers":["MONDO:0013503","OMIM:613956","UMLS:C3151405","medgen:462755"],"information_content":100.0}
{"id":"MONDO:0013504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 8","equivalent_identifiers":["MONDO:0013504","DOID:0070169","OMIM:613957","UMLS:C3151406","medgen:462756"],"information_content":100.0}
{"id":"MONDO:0013505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 9","equivalent_identifiers":["MONDO:0013505","DOID:0111156","OMIM:613958","UMLS:C3151407","medgen:462757"],"information_content":100.0}
{"id":"MONDO:0013507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3","equivalent_identifiers":["MONDO:0013507","DOID:0070194","OMIM:613960","UMLS:C3151409","medgen:462759"],"information_content":100.0}
{"id":"MONDO:0013508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 19, autosomal dominant","equivalent_identifiers":["MONDO:0013508","OMIM:613969","UMLS:C3151410","medgen:462760"],"information_content":100.0}
{"id":"MONDO:0013509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 6","equivalent_identifiers":["MONDO:0013509","DOID:0070036","OMIM:613970","UMLS:C3151411","medgen:462761"],"information_content":100.0}
{"id":"MONDO:0013511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cyanosis, transient neonatal","equivalent_identifiers":["MONDO:0013511","OMIM:613977","UMLS:C3151421","medgen:462771"],"information_content":95.4}
{"id":"MONDO:0013512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HbH hemoglobin","equivalent_identifiers":["MONDO:0013512","DOID:0110031","OMIM:613978","orphanet:93616","UMLS:C3161174","UMLS:C3279561","UMLS:C5886847","MEDDRA:10063433","MEDDRA:10063434","MEDDRA:10063435","MEDDRA:10074051","NCIT:C95504","SNOMEDCT:48553001","medgen:468531","icd11.foundation:9436211","HP:0011903"],"information_content":100.0}
{"id":"MONDO:0013513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 9","equivalent_identifiers":["MONDO:0013513","OMIM:613980","UMLS:C3151431","medgen:462781"],"information_content":100.0}
{"id":"MONDO:0013514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 3","equivalent_identifiers":["MONDO:0013514","DOID:0110700","OMIM:613981","UMLS:C3151432","medgen:462782"],"information_content":100.0}
{"id":"MONDO:0013515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 6","equivalent_identifiers":["MONDO:0013515","DOID:0110350","OMIM:613982","UMLS:C3279564","MESH:C536047","medgen:481194"],"information_content":100.0}
{"id":"MONDO:0013516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 60","equivalent_identifiers":["MONDO:0013516","DOID:0110411","OMIM:613983","UMLS:C3151434","medgen:462784"],"information_content":100.0}
{"id":"MONDO:0013517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta-thalassemia HBB/LCRB","equivalent_identifiers":["MONDO:0013517","OMIM:613985"],"information_content":90.9}
{"id":"MONDO:0013518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary hormone deficiency, combined, 6","equivalent_identifiers":["MONDO:0013518","DOID:0061022","OMIM:613986","UMLS:C3151440","medgen:462790"],"information_content":100.0}
{"id":"MONDO:0013523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nestor-Guillermo progeria syndrome","equivalent_identifiers":["MONDO:0013523","DOID:0081334","OMIM:614008","orphanet:280576","UMLS:C3151446","SNOMEDCT:773331001","medgen:462796"],"information_content":100.0}
{"id":"MONDO:0013525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 16","equivalent_identifiers":["MONDO:0013525","DOID:0110613","OMIM:614017","UMLS:C3151460","medgen:462810"],"information_content":100.0}
{"id":"MONDO:0013526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive myoclonic epilepsy type 6","equivalent_identifiers":["MONDO:0013526","DOID:0111449","OMIM:614018","orphanet:280620","UMLS:C5190805","SNOMEDCT:783062001","medgen:1681379","icd11.foundation:878291417"],"information_content":100.0}
{"id":"MONDO:0013527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly 4","equivalent_identifiers":["MONDO:0013527","DOID:0112235","OMIM:614019","UMLS:C3151461","medgen:462811"],"information_content":100.0}
{"id":"MONDO:0013528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 14","equivalent_identifiers":["MONDO:0013528","DOID:0081188","OMIM:614020","UMLS:C3151462","medgen:462812"],"information_content":100.0}
{"id":"MONDO:0013529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"catecholaminergic polymorphic ventricular tachycardia 3","equivalent_identifiers":["MONDO:0013529","DOID:0060677","OMIM:614021","UMLS:C3151463","NCIT:C189278","medgen:462813"],"information_content":100.0}
{"id":"MONDO:0013530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 10","equivalent_identifiers":["MONDO:0013530","OMIM:614022","UMLS:C3151464","medgen:462814"],"information_content":100.0}
{"id":"MONDO:0013531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PSPH deficiency","equivalent_identifiers":["MONDO:0013531","DOID:0050724","OMIM:614023","orphanet:79350","UMLS:C1291463","SNOMEDCT:124432005","medgen:452940"],"information_content":100.0}
{"id":"MONDO:0013532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"protein Z deficiency","equivalent_identifiers":["MONDO:0013532","OMIM:614024","UMLS:C3151465","medgen:462815"],"information_content":100.0}
{"id":"MONDO:0013533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlipidemia due to hepatic triglyceride lipase deficiency","equivalent_identifiers":["MONDO:0013533","OMIM:614025","orphanet:140905","UMLS:C3151466","SNOMEDCT:720940008","medgen:462816"],"information_content":100.0}
{"id":"MONDO:0013534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"apolipoprotein c-III deficiency","equivalent_identifiers":["MONDO:0013534","DOID:0111370","OMIM:614028","UMLS:C3151467","MESH:C566270","medgen:462817"],"information_content":100.0}
{"id":"MONDO:0013535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydroxyacyl glutathione hydrolase deficiency","equivalent_identifiers":["MONDO:0013535","OMIM:614033","UMLS:C3279657","MESH:C564215","medgen:481287"],"information_content":100.0}
{"id":"MONDO:0013536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heme oxygenase 1 deficiency","equivalent_identifiers":["MONDO:0013536","OMIM:614034","orphanet:562509","UMLS:C1841651","MESH:C564200","SNOMEDCT:1230003009","medgen:333882"],"information_content":100.0}
{"id":"MONDO:0013537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 29","equivalent_identifiers":["MONDO:0013537","DOID:0110487","OMIM:614035","UMLS:C3279660","medgen:481290"],"information_content":100.0}
{"id":"MONDO:0013539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotonia-failure to thrive-microcephaly syndrome","equivalent_identifiers":["MONDO:0013539","OMIM:614037","orphanet:79507","UMLS:C3279662","MESH:C565439","SNOMEDCT:717185008","medgen:481292"],"information_content":100.0}
{"id":"MONDO:0013540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-lymphedema-leukemia syndrome","equivalent_identifiers":["MONDO:0013540","OMIM:614038","UMLS:C3279664","SNOMEDCT:700057001","medgen:481294"],"information_content":100.0}
{"id":"MONDO:0013541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex cortical dysplasia with other brain malformations 1","equivalent_identifiers":["MONDO:0013541","DOID:0090137","OMIM:614039","orphanet:300570","UMLS:C3808397","medgen:814727"],"information_content":100.0}
{"id":"MONDO:0013542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Moyamoya disease 5","equivalent_identifiers":["MONDO:0013542","OMIM:614042","UMLS:C3279690","medgen:481320"],"information_content":100.0}
{"id":"MONDO:0013544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 11","equivalent_identifiers":["MONDO:0013544","OMIM:614049","UMLS:C3279693","medgen:481323"],"information_content":100.0}
{"id":"MONDO:0013545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 12","equivalent_identifiers":["MONDO:0013545","OMIM:614050","UMLS:C3279695","medgen:481325"],"information_content":100.0}
{"id":"MONDO:0013546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex V (ATP synthase) deficiency nuclear type 2","equivalent_identifiers":["MONDO:0013546","DOID:0060331","OMIM:614052","orphanet:1194","UMLS:C3279699","UMLS:C4273660","MESH:C567528","SNOMEDCT:718212006","medgen:481329"],"information_content":100.0}
{"id":"MONDO:0013547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex V (ATP synthase) deficiency nuclear type 3","equivalent_identifiers":["MONDO:0013547","DOID:0060332","OMIM:614053","UMLS:C3279708","medgen:481338"],"information_content":100.0}
{"id":"MONDO:0013548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acetyl-CoA acetyltransferase-2 deficiency","equivalent_identifiers":["MONDO:0013548","OMIM:614055","UMLS:C0342735","MESH:C536005","SNOMEDCT:237955004","medgen:90995"],"information_content":100.0}
{"id":"MONDO:0013549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"N-acetylaspartate deficiency","equivalent_identifiers":["MONDO:0013549","OMIM:614063","UMLS:C3279716","medgen:481346"],"information_content":100.0}
{"id":"MONDO:0013550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal myopathy with posterior leg and anterior hand involvement","equivalent_identifiers":["MONDO:0013550","DOID:0111190","OMIM:614065","orphanet:63273","UMLS:C3279722","UMLS:C4518807","SNOMEDCT:733489002","medgen:481352"],"information_content":100.0}
{"id":"MONDO:0013551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 47","equivalent_identifiers":["MONDO:0013551","DOID:0110799","OMIM:614066","UMLS:C3279738","NCIT:C164224","medgen:481368"],"information_content":100.0}
{"id":"MONDO:0013552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 52","equivalent_identifiers":["MONDO:0013552","DOID:0110804","OMIM:614067","UMLS:C3279743","medgen:481373"],"information_content":100.0}
{"id":"MONDO:0013553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency-centromeric instability-facial anomalies syndrome 2","equivalent_identifiers":["MONDO:0013553","DOID:0090009","OMIM:614069","UMLS:C3279748","medgen:481378"],"information_content":100.0}
{"id":"MONDO:0013554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis 13","equivalent_identifiers":["MONDO:0013554","DOID:0111287","OMIM:614070","UMLS:C3279754","medgen:481384"],"information_content":100.0}
{"id":"MONDO:0013555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 3","equivalent_identifiers":["MONDO:0013555","DOID:0060541","OMIM:614072","UMLS:C3888001","medgen:854708"],"information_content":100.0}
{"id":"MONDO:0013556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 4","equivalent_identifiers":["MONDO:0013556","DOID:0060542","OMIM:614073","UMLS:C3484357","medgen:483344"],"information_content":100.0}
{"id":"MONDO:0013557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 5","equivalent_identifiers":["MONDO:0013557","DOID:0060543","OMIM:614074","UMLS:C3888004","medgen:854711"],"information_content":100.0}
{"id":"MONDO:0013558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 6","equivalent_identifiers":["MONDO:0013558","DOID:0060544","OMIM:614075","UMLS:C3888007","NCIT:C150369","medgen:854714"],"information_content":100.0}
{"id":"MONDO:0013559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 7","equivalent_identifiers":["MONDO:0013559","DOID:0060545","OMIM:614076","orphanet:231531","UMLS:C3279756","medgen:481386"],"information_content":100.0}
{"id":"MONDO:0013560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 8","equivalent_identifiers":["MONDO:0013560","DOID:0060546","OMIM:614077","UMLS:C3888026","medgen:854728"],"information_content":100.0}
{"id":"MONDO:0013561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrodysplasia with joint dislocations, gPAPP type","equivalent_identifiers":["MONDO:0013561","DOID:0112224","OMIM:614078","orphanet:280586","UMLS:C3279757","SNOMEDCT:782882009","medgen:481387"],"information_content":100.0}
{"id":"MONDO:0013562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aspergillosis, susceptibility to","equivalent_identifiers":["MONDO:0013562","OMIM:614079","UMLS:C3279774","medgen:481404"],"information_content":100.0}
{"id":"MONDO:0013563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple congenital anomalies-hypotonia-seizures syndrome 1","equivalent_identifiers":["MONDO:0013563","DOID:0080138","OMIM:614080","orphanet:280633","UMLS:C3279775","NCIT:C176896","medgen:481405"],"information_content":100.0}
{"id":"MONDO:0013564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anhaptoglobinemia","equivalent_identifiers":["MONDO:0013564","OMIM:614081","UMLS:C3279786","UMLS:C3279787","medgen:481416"],"information_content":100.0}
{"id":"MONDO:0013565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group G","equivalent_identifiers":["MONDO:0013565","DOID:0111086","OMIM:614082","EFO:0009046","UMLS:C3469527","NCIT:C125708","medgen:854017"],"information_content":92.8}
{"id":"MONDO:0013566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group L","equivalent_identifiers":["MONDO:0013566","DOID:0111082","OMIM:614083","UMLS:C3469528","NCIT:C164677","medgen:854018"],"information_content":92.8}
{"id":"MONDO:0013567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 3","equivalent_identifiers":["MONDO:0013567","DOID:0110108","OMIM:614089","UMLS:C3279790","MESH:C563540","medgen:481420"],"information_content":100.0}
{"id":"MONDO:0013568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sick sinus syndrome 3, susceptibility to","equivalent_identifiers":["MONDO:0013568","OMIM:614090","UMLS:C3279791","medgen:481421"],"information_content":100.0}
{"id":"MONDO:0013569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 7 with or without polydactyly","equivalent_identifiers":["MONDO:0013569","DOID:0110090","OMIM:614091","orphanet:498497","UMLS:C3279792","medgen:481422"],"information_content":100.0}
{"id":"MONDO:0013570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 8","equivalent_identifiers":["MONDO:0013570","DOID:0111479","OMIM:614096","orphanet:319504","UMLS:C4518839","NCIT:C180851","SNOMEDCT:733600007","medgen:1377817"],"information_content":100.0}
{"id":"MONDO:0013571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acatalasia","equivalent_identifiers":["MONDO:0013571","DOID:2582","OMIM:614097","orphanet:926","EFO:0004144","UMLS:C0268419","UMLS:C2931868","MESH:D020642","MEDDRA:10086141","MEDDRA:10086151","MEDDRA:10086152","NCIT:C84526","SNOMEDCT:124202004","SNOMEDCT:267454002","medgen:75679"],"information_content":100.0}
{"id":"MONDO:0013572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Keppen-Lubinsky syndrome","equivalent_identifiers":["MONDO:0013572","OMIM:614098","orphanet:435628","UMLS:C3279800","SNOMEDCT:1220589007","medgen:481430"],"information_content":100.0}
{"id":"MONDO:0013573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranioectodermal dysplasia 3","equivalent_identifiers":["MONDO:0013573","DOID:0080805","OMIM:614099","UMLS:C3279807","medgen:481437"],"information_content":100.0}
{"id":"MONDO:0013574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa - Marfanoid syndrome","equivalent_identifiers":["MONDO:0013574","OMIM:614100","orphanet:171719","UMLS:C0432335","MESH:C563639","SNOMEDCT:254221009","medgen:96594","icd11.foundation:467492754"],"information_content":100.0}
{"id":"MONDO:0013575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plasma fibronectin deficiency","equivalent_identifiers":["MONDO:0013575","OMIM:614101","UMLS:C2675436","medgen:436433"],"information_content":100.0}
{"id":"MONDO:0013576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recurrent infections associated with rare immunoglobulin isotypes deficiency","equivalent_identifiers":["MONDO:0013576","OMIM:614102","orphanet:183675","UMLS:C3279824","MESH:C564131","medgen:481454"],"information_content":100.0}
{"id":"MONDO:0013577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lipedema","equivalent_identifiers":["MONDO:0013577","OMIM:614103","UMLS:C0398370","MESH:D065134","MEDDRA:10063955","MEDDRA:10063956","SNOMEDCT:234102003","medgen:451048","HP:0100695"],"information_content":100.0}
{"id":"MONDO:0013578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYRK1A-related intellectual disability syndrome","equivalent_identifiers":["MONDO:0013578","DOID:0070037","OMIM:614104","orphanet:464306","UMLS:C5568143","NCIT:C179708","SNOMEDCT:1179301003","medgen:1799566"],"information_content":92.8}
{"id":"MONDO:0013579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonate semialdehyde dehydrogenase deficiency","equivalent_identifiers":["MONDO:0013579","OMIM:614105","orphanet:289307","UMLS:C3279840","MESH:C566402","SNOMEDCT:1293015005","medgen:481470","icd11.foundation:1700759193"],"information_content":100.0}
{"id":"MONDO:0013580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate dehydrogenase E1-beta deficiency","equivalent_identifiers":["MONDO:0013580","OMIM:614111","orphanet:255138","UMLS:C3279841","MESH:C566729","medgen:481471"],"information_content":100.0}
{"id":"MONDO:0013581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 2","equivalent_identifiers":["MONDO:0013581","DOID:0070032","OMIM:614113","UMLS:C3279842","medgen:481472"],"information_content":100.0}
{"id":"MONDO:0013583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"occipital pachygyria and polymicrogyria","equivalent_identifiers":["MONDO:0013583","OMIM:614115","orphanet:280640","UMLS:C3279875","medgen:481505"],"information_content":100.0}
{"id":"MONDO:0013584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory neuropathy-deafness-dementia syndrome","equivalent_identifiers":["MONDO:0013584","DOID:0070158","OMIM:614116","orphanet:456318","UMLS:C3279885","MESH:C580162","SNOMEDCT:860812002","medgen:481515"],"information_content":100.0}
{"id":"MONDO:0013585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrolethalus syndrome 2","equivalent_identifiers":["MONDO:0013585","DOID:0111356","OMIM:614120","UMLS:C3279899","medgen:481529"],"information_content":100.0}
{"id":"MONDO:0013587","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to lactate dehydrogenase H-subunit deficiency","equivalent_identifiers":["MONDO:0013587","OMIM:614128","orphanet:284435","UMLS:C3279904","UMLS:C4477051","MESH:C563641","medgen:481534","HP:0045041"],"information_content":100.0}
{"id":"MONDO:0013588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perrault syndrome 3","equivalent_identifiers":["MONDO:0013588","OMIM:614129","UMLS:C3808414","medgen:814744"],"information_content":100.0}
{"id":"MONDO:0013589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal segmental glomerulosclerosis 6","equivalent_identifiers":["MONDO:0013589","DOID:0111131","OMIM:614131","UMLS:C3279905","medgen:481535"],"information_content":100.0}
{"id":"MONDO:0013590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stickler syndrome, type 4","equivalent_identifiers":["MONDO:0013590","OMIM:614134","UMLS:C3279941","medgen:481571"],"information_content":100.0}
{"id":"MONDO:0013591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiphyseal dysplasia, multiple, 6","equivalent_identifiers":["MONDO:0013591","DOID:0070301","OMIM:614135","UMLS:C2675767","medgen:436517"],"information_content":100.0}
{"id":"MONDO:0013592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Onychodystrophy","equivalent_identifiers":["MONDO:0013592","DOID:0080087","OMIM:614149","UMLS:C0221260","UMLS:C3279947","MEDDRA:10028698","MEDDRA:10073339","NCIT:C112213","SNOMEDCT:87065009","medgen:481577","HP:0008404"],"information_content":89.4}
{"id":"MONDO:0013593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 64","equivalent_identifiers":["MONDO:0013593","DOID:0110585","OMIM:614152","UMLS:C3279948","medgen:481578"],"information_content":100.0}
{"id":"MONDO:0013594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 36","equivalent_identifiers":["MONDO:0013594","DOID:0050983","OMIM:614153","orphanet:276198","UMLS:C3472711","NCIT:C148316","SNOMEDCT:711158005","medgen:483339","icd11.foundation:1544814018"],"information_content":100.0}
{"id":"MONDO:0013595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperbiliverdinemia","equivalent_identifiers":["MONDO:0013595","OMIM:614156","orphanet:276405","UMLS:C3279964","SNOMEDCT:771441005","medgen:481594"],"information_content":100.0}
{"id":"MONDO:0013598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myostatin-related muscle hypertrophy","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013598","DOID:0111072","OMIM:614160","UMLS:C2931112","MESH:C536106","SNOMEDCT:699185005","medgen:418994"],"information_content":100.0}
{"id":"MONDO:0013599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome","equivalent_identifiers":["MONDO:0013599","DOID:0111946","OMIM:614162","orphanet:391487","UMLS:C3279990","NCIT:C172099","medgen:481620"],"information_content":100.0}
{"id":"MONDO:0013600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"insomnia","equivalent_identifiers":["MONDO:0013600","EFO:0004698","UMLS:C0917801","UMLS:C4477058","MESH:D007319","MEDDRA:10022437","MEDDRA:10022442","MEDDRA:10041017","MEDDRA:10078083","NCIT:C28286","SNOMEDCT:193462001","medgen:214589","HP:0100785"],"information_content":84.2}
{"id":"MONDO:0013601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gluthathione peroxidase deficiency","equivalent_identifiers":["MONDO:0013601","OMIM:614164","UMLS:C0398747","SNOMEDCT:234590006","medgen:473098"],"information_content":100.0}
{"id":"MONDO:0013602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paragangliomas 5","equivalent_identifiers":["MONDO:0013602","OMIM:614165","UMLS:C3279992","medgen:481622"],"information_content":100.0}
{"id":"MONDO:0013604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 21, autosomal dominant","equivalent_identifiers":["MONDO:0013604","OMIM:614167","UMLS:C3279997","medgen:481627"],"information_content":100.0}
{"id":"MONDO:0013605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brittle cornea syndrome 2","equivalent_identifiers":["MONDO:0013605","DOID:0080729","OMIM:614170","UMLS:C3280011","medgen:481641"],"information_content":100.0}
{"id":"MONDO:0013606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 9","equivalent_identifiers":["MONDO:0013606","DOID:0060547","OMIM:614171","UMLS:C3280026","medgen:481656"],"information_content":100.0}
{"id":"MONDO:0013607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monocytopenia with susceptibility to infections","equivalent_identifiers":["MONDO:0013607","DOID:0111947","OMIM:614172","orphanet:228423","UMLS:C3280030","MESH:D000077428","MEDDRA:10086705","SNOMEDCT:778024005","medgen:481660","icd11.foundation:1077753382"],"information_content":100.0}
{"id":"MONDO:0013608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 13","equivalent_identifiers":["MONDO:0013608","DOID:0110982","OMIM:614173","UMLS:C3280031","medgen:481661"],"information_content":100.0}
{"id":"MONDO:0013609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 10","equivalent_identifiers":["MONDO:0013609","OMIM:614175","UMLS:C3280036","medgen:481666"],"information_content":100.0}
{"id":"MONDO:0013610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 61","equivalent_identifiers":["MONDO:0013610","DOID:0110373","OMIM:614180","UMLS:C3280041","medgen:481671"],"information_content":100.0}
{"id":"MONDO:0013611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 62","equivalent_identifiers":["MONDO:0013611","DOID:0110380","OMIM:614181","UMLS:C3280042","medgen:481672"],"information_content":100.0}
{"id":"MONDO:0013612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"geleophysic dysplasia 2","equivalent_identifiers":["MONDO:0013612","DOID:0111726","OMIM:614185","UMLS:C3280054","medgen:481684"],"information_content":100.0}
{"id":"MONDO:0013613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 16","equivalent_identifiers":["MONDO:0013613","DOID:0110118","OMIM:614186","UMLS:C3280062","medgen:481692"],"information_content":100.0}
{"id":"MONDO:0013614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertelorism-preauricular sinus-punctual pits-deafness syndrome","equivalent_identifiers":["MONDO:0013614","OMIM:614187","orphanet:293958","UMLS:C4751125","SNOMEDCT:773667003","medgen:1659106"],"information_content":100.0}
{"id":"MONDO:0013615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis and dental anomalies","equivalent_identifiers":["MONDO:0013615","OMIM:614188","orphanet:284149","UMLS:C3280073","SNOMEDCT:773332008","medgen:481703"],"information_content":100.0}
{"id":"MONDO:0013616","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pigmented nodular adrenocortical disease, primary, 3","equivalent_identifiers":["MONDO:0013616","DOID:0070548","OMIM:614190","UMLS:C3280094","medgen:481724"],"information_content":100.0}
{"id":"MONDO:0013618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofacial anomalies and anterior segment dysgenesis syndrome","equivalent_identifiers":["MONDO:0013618","OMIM:614195","UMLS:C3280099","medgen:481729"],"information_content":100.0}
{"id":"MONDO:0013619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 6","equivalent_identifiers":["MONDO:0013619","DOID:0080384","OMIM:614196","UMLS:C3280100","medgen:481730"],"information_content":100.0}
{"id":"MONDO:0013620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 16","equivalent_identifiers":["MONDO:0013620","DOID:0110682","OMIM:614198","UMLS:C3280112","medgen:481742"],"information_content":100.0}
{"id":"MONDO:0013621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LAMB2-related infantile-onset nephrotic syndrome","equivalent_identifiers":["MONDO:0013621","DOID:0080380","OMIM:614199","UMLS:C3280113","MESH:C565405","medgen:481743"],"information_content":95.4}
{"id":"MONDO:0013622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 9","equivalent_identifiers":["MONDO:0013622","DOID:0111045","OMIM:614200","orphanet:98886","UMLS:C3280114","MESH:C566000","medgen:481744"],"information_content":100.0}
{"id":"MONDO:0013623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 11","equivalent_identifiers":["MONDO:0013623","DOID:0111057","OMIM:614201","orphanet:98885","UMLS:C3280120","SNOMEDCT:765977002","medgen:481750"],"information_content":100.0}
{"id":"MONDO:0013624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rafiq syndrome","equivalent_identifiers":["MONDO:0013624","DOID:0081097","OMIM:614202","UMLS:C3280127","medgen:481757"],"information_content":100.0}
{"id":"MONDO:0013625","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 17","equivalent_identifiers":["MONDO:0013625","DOID:0060897","OMIM:614203","UMLS:C3280133","NCIT:C201520","medgen:481763"],"information_content":100.0}
{"id":"MONDO:0013626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis 14, pustular","equivalent_identifiers":["MONDO:0013626","DOID:0080474","OMIM:614204","orphanet:163931","orphanet:404546","UMLS:C0392439","UMLS:C4759670","MEDDRA:10000595","MEDDRA:10079451","MEDDRA:10079452","NCIT:C119057","SNOMEDCT:784339002","SNOMEDCT:83839005","medgen:581114","ICD10:L40.1"],"information_content":100.0}
{"id":"MONDO:0013627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3M syndrome 3","equivalent_identifiers":["MONDO:0013627","OMIM:614205","UMLS:C3280146","medgen:481776"],"information_content":100.0}
{"id":"MONDO:0013628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperphosphatasia with intellectual disability syndrome 3","equivalent_identifiers":["MONDO:0013628","DOID:0070435","OMIM:614207","UMLS:C3280153","medgen:481783"],"information_content":100.0}
{"id":"MONDO:0013629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 16","equivalent_identifiers":["MONDO:0013629","DOID:0081189","OMIM:614208","UMLS:C3280154","medgen:481784"],"information_content":100.0}
{"id":"MONDO:0013630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 9","equivalent_identifiers":["MONDO:0013630","OMIM:614209","UMLS:C3280155","medgen:481785"],"information_content":100.0}
{"id":"MONDO:0013632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 33","equivalent_identifiers":["MONDO:0013632","DOID:0110562","OMIM:614211","UMLS:C3887930","medgen:854638"],"information_content":100.0}
{"id":"MONDO:0013633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy, acute, infection-induced, susceptibility to, 4","equivalent_identifiers":["MONDO:0013633","OMIM:614212","UMLS:C3280160","medgen:481790"],"information_content":100.0}
{"id":"MONDO:0013634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary sensory, type 2C","equivalent_identifiers":["MONDO:0013634","DOID:0070147","OMIM:614213","UMLS:C3280168","medgen:481798"],"information_content":100.0}
{"id":"MONDO:0013635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adams-Oliver syndrome 2","equivalent_identifiers":["MONDO:0013635","OMIM:614219","UMLS:C3280182","medgen:481812"],"information_content":100.0}
{"id":"MONDO:0013638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Warburg micro syndrome 3","equivalent_identifiers":["MONDO:0013638","DOID:0110718","OMIM:614222","UMLS:C3280203","medgen:481833"],"information_content":100.0}
{"id":"MONDO:0013640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial retinal arterial macroaneurysm","equivalent_identifiers":["MONDO:0013640","OMIM:614224","orphanet:284247","UMLS:C3280205","SNOMEDCT:764452004","medgen:481835","icd11.foundation:800928909"],"information_content":100.0}
{"id":"MONDO:0013641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Warburg micro syndrome 2","equivalent_identifiers":["MONDO:0013641","DOID:0110717","OMIM:614225","UMLS:C3280214","medgen:481844"],"information_content":100.0}
{"id":"MONDO:0013642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 11","equivalent_identifiers":["MONDO:0013642","DOID:0110877","OMIM:614226","UMLS:C3280215","medgen:481845"],"information_content":100.0}
{"id":"MONDO:0013643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperuricemic nephropathy, familial juvenile type 3","equivalent_identifiers":["MONDO:0013643","OMIM:614227","UMLS:C3280216","medgen:481846"],"information_content":100.0}
{"id":"MONDO:0013644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2O","equivalent_identifiers":["MONDO:0013644","DOID:0110175","OMIM:614228","orphanet:284232","UMLS:C3280220","SNOMEDCT:782829002","medgen:481850"],"information_content":100.0}
{"id":"MONDO:0013645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spinocerebellar ataxia 11","equivalent_identifiers":["MONDO:0013645","DOID:0080063","OMIM:614229","orphanet:284271","UMLS:C5190803","SNOMEDCT:783060009","medgen:1681191"],"information_content":100.0}
{"id":"MONDO:0013646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 8q21.11 deletion syndrome","equivalent_identifiers":["MONDO:0013646","DOID:0060425","OMIM:614230","orphanet:284160","UMLS:C3280231","UMLS:C4305343","SNOMEDCT:718615003","medgen:481861"],"information_content":100.0}
{"id":"MONDO:0013648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial progressive hyperpigmentation","equivalent_identifiers":["MONDO:0013648","OMIM:614233","orphanet:79146","UMLS:C2681535","SNOMEDCT:715630006","icd11.foundation:1808730427"],"information_content":92.8}
{"id":"MONDO:0013649","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 9","equivalent_identifiers":["MONDO:0013649","DOID:0110706","OMIM:614237","UMLS:C3280252","medgen:481882"],"information_content":100.0}
{"id":"MONDO:0013650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 10","equivalent_identifiers":["MONDO:0013650","DOID:0110707","OMIM:614238","UMLS:C3280253","medgen:481883"],"information_content":100.0}
{"id":"MONDO:0013651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 18","equivalent_identifiers":["MONDO:0013651","DOID:0081190","OMIM:614249","UMLS:C3280265","medgen:481895"],"information_content":100.0}
{"id":"MONDO:0013652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"narcolepsy 7","equivalent_identifiers":["MONDO:0013652","OMIM:614250","UMLS:C3280266","medgen:481896"],"information_content":100.0}
{"id":"MONDO:0013653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 18, autosomal dominant, susceptibility to","equivalent_identifiers":["MONDO:0013653","OMIM:614251","UMLS:C3280271","medgen:481901"],"information_content":100.0}
{"id":"MONDO:0013655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 8","equivalent_identifiers":["MONDO:0013655","DOID:0070038","OMIM:614254","UMLS:C3280282","medgen:481912"],"information_content":100.0}
{"id":"MONDO:0013656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NESCAV syndrome","equivalent_identifiers":["MONDO:0013656","DOID:0070039","OMIM:614255","orphanet:662367","UMLS:C3280283","UMLS:C5393830","NCIT:C133742","medgen:1714250"],"information_content":100.0}
{"id":"MONDO:0013657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 10","equivalent_identifiers":["MONDO:0013657","DOID:0070040","OMIM:614256","UMLS:C3280284","medgen:481914"],"information_content":100.0}
{"id":"MONDO:0013658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 11","equivalent_identifiers":["MONDO:0013658","DOID:0070041","OMIM:614257","UMLS:C3280285","medgen:481915"],"information_content":100.0}
{"id":"MONDO:0013659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-capillary malformation syndrome","equivalent_identifiers":["MONDO:0013659","OMIM:614261","orphanet:294016","UMLS:C3280296","NCIT:C192098","SNOMEDCT:703369003","medgen:481926"],"information_content":100.0}
{"id":"MONDO:0013660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, Perthes disease, and upward gaze palsy","equivalent_identifiers":["MONDO:0013660","OMIM:614262","UMLS:C3280309","medgen:481939"],"information_content":100.0}
{"id":"MONDO:0013661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined malonic and methylmalonic acidemia","equivalent_identifiers":["MONDO:0013661","DOID:0111263","OMIM:614265","orphanet:289504","UMLS:C3280314","MESH:C580002","SNOMEDCT:702365002","medgen:481944"],"information_content":100.0}
{"id":"MONDO:0013662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Barrett esophagus","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0013662","DOID:9206","OMIM:614266","EFO:0000280","UMLS:C0004763","UMLS:C2741633","MESH:D001471","MEDDRA:10004134","MEDDRA:10004135","MEDDRA:10004137","MEDDRA:10053999","MEDDRA:10056095","MEDDRA:10072776","NCIT:C2891","SNOMEDCT:196609006","SNOMEDCT:302914006","medgen:2551","ICD10:K22.7","ICD9:530.85","HP:0100580"],"information_content":87.2}
{"id":"MONDO:0013663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-activating factor acetylhydrolase deficiency","equivalent_identifiers":["MONDO:0013663","OMIM:614278","UMLS:C3280315","MESH:C566640","medgen:481945","HP:0040175"],"information_content":100.0}
{"id":"MONDO:0013664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency","equivalent_identifiers":["MONDO:0013664","DOID:0111773","OMIM:614279","orphanet:443087","UMLS:C0342473","UMLS:C1839840","MESH:C564109","SNOMEDCT:49013001","medgen:333416"],"information_content":100.0}
{"id":"MONDO:0013665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, juvenile myoclonic, susceptibility to, 9","equivalent_identifiers":["MONDO:0013665","DOID:0111328","OMIM:614280","UMLS:C3280332","medgen:481962"],"information_content":100.0}
{"id":"MONDO:0013666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stickler syndrome, type 5","equivalent_identifiers":["MONDO:0013666","OMIM:614284","UMLS:C3280342","medgen:481972"],"information_content":100.0}
{"id":"MONDO:0013668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetrasomy 18p","equivalent_identifiers":["MONDO:0013668","OMIM:614290","orphanet:3307","UMLS:C0795868","MESH:C538306","SNOMEDCT:698849002","medgen:167079","icd11.foundation:1182006735"],"information_content":100.0}
{"id":"MONDO:0013669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast-ovarian cancer, familial, susceptibility to, 4","equivalent_identifiers":["MONDO:0013669","OMIM:614291","UMLS:C3280345","medgen:481975"],"information_content":100.0}
{"id":"MONDO:0013670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia, high, with cataract and vitreoretinal degeneration","equivalent_identifiers":["MONDO:0013670","OMIM:614292","UMLS:C3280346","medgen:481976"],"information_content":100.0}
{"id":"MONDO:0013671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydatidiform mole, recurrent, 2","equivalent_identifiers":["MONDO:0013671","OMIM:614293","UMLS:C3280352","medgen:481982"],"information_content":100.0}
{"id":"MONDO:0013672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 15q25 deletion syndrome","equivalent_identifiers":["MONDO:0013672","DOID:0060396","OMIM:614294","UMLS:C3280355","medgen:481985"],"information_content":100.0}
{"id":"MONDO:0013673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolfram-like syndrome","equivalent_identifiers":["MONDO:0013673","DOID:0080584","OMIM:614296","orphanet:411590","EFO:0009063","UMLS:C3280358","UMLS:C4518338","MESH:C565631","SNOMEDCT:734022008","medgen:481988"],"information_content":100.0}
{"id":"MONDO:0013674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration with brain iron accumulation 4","equivalent_identifiers":["MONDO:0013674","DOID:0110738","OMIM:614298","orphanet:289560","UMLS:C3280371","NCIT:C175707","SNOMEDCT:709415008","medgen:482001"],"information_content":100.0}
{"id":"MONDO:0013675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple mitochondrial dysfunctions syndrome 2","equivalent_identifiers":["MONDO:0013675","DOID:0080134","OMIM:614299","orphanet:401874","UMLS:C3280378","SNOMEDCT:1208486005","medgen:482008"],"information_content":100.0}
{"id":"MONDO:0013677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Emery-Dreifuss muscular dystrophy 7, autosomal dominant","equivalent_identifiers":["MONDO:0013677","DOID:0070252","OMIM:614302","UMLS:C3553060","medgen:765974"],"information_content":100.0}
{"id":"MONDO:0013678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"EDICT syndrome","equivalent_identifiers":["MONDO:0013678","OMIM:614303","orphanet:293936","UMLS:C3280392","SNOMEDCT:722439009","medgen:482022"],"information_content":100.0}
{"id":"MONDO:0013679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sclerosteosis 2","equivalent_identifiers":["MONDO:0013679","DOID:0060757","OMIM:614305","UMLS:C3280402","medgen:482032"],"information_content":100.0}
{"id":"MONDO:0013680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cognitive impairment with or without cerebellar ataxia","equivalent_identifiers":["MONDO:0013680","OMIM:614306","UMLS:C3280415","medgen:482045"],"information_content":100.0}
{"id":"MONDO:0013681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-methylacyl-CoA racemase deficiency","equivalent_identifiers":["MONDO:0013681","DOID:0060602","OMIM:614307","EFO:1001980","UMLS:C3280428","MESH:C565768","NCIT:C119677","SNOMEDCT:700463002","medgen:482058"],"information_content":95.4}
{"id":"MONDO:0013686","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal myopathy, Tateyama type","equivalent_identifiers":["MONDO:0013686","DOID:0111191","OMIM:614321","orphanet:488650","UMLS:C3280443","SNOMEDCT:711265009","medgen:482073"],"information_content":100.0}
{"id":"MONDO:0013687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spinocerebellar ataxia 12","equivalent_identifiers":["MONDO:0013687","DOID:0080060","OMIM:614322","orphanet:284282","UMLS:C3280452","SNOMEDCT:770898002","medgen:482082"],"information_content":100.0}
{"id":"MONDO:0013688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Becker Nevus","equivalent_identifiers":["MONDO:0013688","OMIM:614323","orphanet:79150","UMLS:C1304501","NCIT:C3924","SNOMEDCT:403803002","medgen:473394"],"information_content":100.0}
{"id":"MONDO:0013689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian dysgenesis 3","equivalent_identifiers":["MONDO:0013689","DOID:0080495","OMIM:614324","UMLS:C3280471","medgen:482101"],"information_content":100.0}
{"id":"MONDO:0013690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pitt-Hopkins-like syndrome 2","equivalent_identifiers":["MONDO:0013690","DOID:0111332","OMIM:614325","UMLS:C3280479","medgen:482109"],"information_content":100.0}
{"id":"MONDO:0013691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Feingold syndrome type 2","equivalent_identifiers":["MONDO:0013691","OMIM:614326","orphanet:391646","UMLS:C3280489","MEDDRA:10086636","medgen:482119"],"information_content":100.0}
{"id":"MONDO:0013693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory skin and bowel disease, neonatal, 1","equivalent_identifiers":["MONDO:0013693","OMIM:614328","UMLS:C3280501","medgen:482131"],"information_content":100.0}
{"id":"MONDO:0013694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 31","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013694","DOID:0081191","OMIM:614329","UMLS:C3280523","medgen:482153"],"information_content":100.0}
{"id":"MONDO:0013696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 2p16.3 deletion syndrome","equivalent_identifiers":["MONDO:0013696","OMIM:614332","UMLS:C3808494","medgen:814824"],"information_content":100.0}
{"id":"MONDO:0013697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 29","equivalent_identifiers":["MONDO:0013697","DOID:0081192","OMIM:614333","UMLS:C3280525","medgen:482155"],"information_content":100.0}
{"id":"MONDO:0013698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, distal, type 1B","equivalent_identifiers":["MONDO:0013698","DOID:0111598","OMIM:614335","UMLS:C3280526","medgen:482156"],"information_content":100.0}
{"id":"MONDO:0013700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic triacylglycerol lipase deficiency","equivalent_identifiers":["MONDO:0013700","OMIM:614338","orphanet:309031","UMLS:C0268240","UMLS:C3280527","UMLS:C3280528","UMLS:C3280529","UMLS:C3280530","NCIT:C129030","SNOMEDCT:78960005","medgen:482157","icd11.foundation:349070670"],"information_content":92.8}
{"id":"MONDO:0013702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 27","equivalent_identifiers":["MONDO:0013702","DOID:0081193","OMIM:614340","UMLS:C3280538","medgen:482168"],"information_content":100.0}
{"id":"MONDO:0013703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 33","equivalent_identifiers":["MONDO:0013703","DOID:0081194","OMIM:614341","UMLS:C3280539","medgen:482169"],"information_content":100.0}
{"id":"MONDO:0013704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 30","equivalent_identifiers":["MONDO:0013704","DOID:0081195","OMIM:614342","UMLS:C3280540","medgen:482170"],"information_content":100.0}
{"id":"MONDO:0013705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 19","equivalent_identifiers":["MONDO:0013705","OMIM:614343","UMLS:C3280541","medgen:482171"],"information_content":100.0}
{"id":"MONDO:0013706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 23","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0013706","DOID:0081196","OMIM:614344","UMLS:C3280542","medgen:482172"],"information_content":100.0}
{"id":"MONDO:0013707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 24","equivalent_identifiers":["MONDO:0013707","DOID:0081197","OMIM:614345","UMLS:C3280543","medgen:482173"],"information_content":100.0}
{"id":"MONDO:0013708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 25","equivalent_identifiers":["MONDO:0013708","DOID:0081198","OMIM:614346","UMLS:C3280544","medgen:482174"],"information_content":100.0}
{"id":"MONDO:0013709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 28","equivalent_identifiers":["MONDO:0013709","DOID:0081199","OMIM:614347","UMLS:C3280545","medgen:482175"],"information_content":100.0}
{"id":"MONDO:0013711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome","equivalent_identifiers":["MONDO:0013711","OMIM:614369","orphanet:397744","UMLS:C3280556","medgen:482186"],"information_content":100.0}
{"id":"MONDO:0013712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"surfactant metabolism dysfunction, pulmonary, 5","equivalent_identifiers":["MONDO:0013712","OMIM:614370","UMLS:C3280574","medgen:482204"],"information_content":100.0}
{"id":"MONDO:0013713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dengue virus, susceptibility to","equivalent_identifiers":["MONDO:0013713","OMIM:614371","UMLS:C1858186","UMLS:C3280582","medgen:482212"],"information_content":100.0}
{"id":"MONDO:0013714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mannose-binding lectin deficiency","equivalent_identifiers":["MONDO:0013714","OMIM:614372","UMLS:C3280586","MESH:C563602","MEDDRA:10083190","MEDDRA:10083191","SNOMEDCT:703538003","medgen:482216"],"information_content":100.0}
{"id":"MONDO:0013715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 16","equivalent_identifiers":["MONDO:0013715","DOID:0060207","OMIM:614373","UMLS:C3280587","medgen:482217"],"information_content":100.0}
{"id":"MONDO:0013717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asphyxiating thoracic dystrophy 5","equivalent_identifiers":["MONDO:0013717","DOID:0110089","OMIM:614376","UMLS:C3280598","medgen:482228"],"information_content":100.0}
{"id":"MONDO:0013718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 13","equivalent_identifiers":["MONDO:0013718","DOID:0111121","OMIM:614377","UMLS:C3280612","medgen:482242"],"information_content":100.0}
{"id":"MONDO:0013719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranioectodermal dysplasia 4","equivalent_identifiers":["MONDO:0013719","DOID:0080806","OMIM:614378","UMLS:C3280616","medgen:482246"],"information_content":100.0}
{"id":"MONDO:0013720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement component 4b deficiency","equivalent_identifiers":["MONDO:0013720","DOID:0060298","OMIM:614379","UMLS:C3280641","UMLS:C5779962","medgen:482271","HP:0045044"],"information_content":100.0}
{"id":"MONDO:0013721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement component 4a deficiency","equivalent_identifiers":["MONDO:0013721","DOID:0060297","OMIM:614380","UMLS:C3280642","MESH:C565167","medgen:482272"],"information_content":100.0}
{"id":"MONDO:0013722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism","equivalent_identifiers":["MONDO:0013722","DOID:0060797","OMIM:614381","orphanet:85186","UMLS:C3280644","MESH:C535353","NCIT:C180850","medgen:482274"],"information_content":100.0}
{"id":"MONDO:0013723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacteremia, susceptibility to, 1","equivalent_identifiers":["MONDO:0013723","OMIM:614382","UMLS:C3280645","medgen:482275"],"information_content":100.0}
{"id":"MONDO:0013724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacteremia, susceptibility to, 2","equivalent_identifiers":["MONDO:0013724","OMIM:614383","UMLS:C3280647","medgen:482277"],"information_content":100.0}
{"id":"MONDO:0013726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1","equivalent_identifiers":["MONDO:0013726","DOID:0070347","OMIM:614388","orphanet:330050","UMLS:C3280660","medgen:482290"],"information_content":100.0}
{"id":"MONDO:0013727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pregnancy loss, recurrent, susceptibility to, 1","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0013727","OMIM:614389","UMLS:C3280670","medgen:482300"],"information_content":100.0}
{"id":"MONDO:0013728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pregnancy loss, recurrent, susceptibility to, 2","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0013728","OMIM:614390","UMLS:C3280672","medgen:482302"],"information_content":100.0}
{"id":"MONDO:0013729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pregnancy loss, recurrent, susceptibility to, 3","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0013729","OMIM:614391","UMLS:C3280674","medgen:482304"],"information_content":100.0}
{"id":"MONDO:0013730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"graft versus host disease","equivalent_identifiers":["MONDO:0013730","DOID:0081267","orphanet:39812","UMLS:C0018133","MESH:D006086","MEDDRA:10018651","MEDDRA:10018798","MEDDRA:10018799","NCIT:C3063","SNOMEDCT:234646005","medgen:9082","icd11:4B24","icd11.foundation:437372167"],"information_content":79.6}
{"id":"MONDO:0013731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MEGF10-related myopathy","equivalent_identifiers":["MONDO:0013731","DOID:0111333","OMIM:614399","orphanet:439212","UMLS:C3280679","SNOMEDCT:1236844002","medgen:482309"],"information_content":100.0}
{"id":"MONDO:0013732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucocorticoid therapy, response to","equivalent_identifiers":["MONDO:0013732","OMIM:614400","UMLS:C3280689","medgen:482319"],"information_content":100.0}
{"id":"MONDO:0013734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, syndromic 11","equivalent_identifiers":["MONDO:0013734","DOID:0111804","OMIM:614402","UMLS:C3553077","medgen:765991"],"information_content":100.0}
{"id":"MONDO:0013735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome","equivalent_identifiers":["MONDO:0013735","OMIM:614407","orphanet:329332","UMLS:C3280692","SNOMEDCT:764732004","medgen:482322"],"information_content":100.0}
{"id":"MONDO:0013737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 46","equivalent_identifiers":["MONDO:0013737","DOID:0110798","OMIM:614409","orphanet:320391","UMLS:C2828721","SNOMEDCT:723822009","medgen:473687"],"information_content":100.0}
{"id":"MONDO:0013738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 96","equivalent_identifiers":["MONDO:0013738","DOID:0110538","OMIM:614414","UMLS:C3888337","medgen:854865"],"information_content":100.0}
{"id":"MONDO:0013739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chilblain lupus 2","equivalent_identifiers":["MONDO:0013739","OMIM:614415","UMLS:C3280721","medgen:482351"],"information_content":100.0}
{"id":"MONDO:0013740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal occipital encephalocele-skeletal dysplasia syndrome","equivalent_identifiers":["MONDO:0013740","OMIM:614416","orphanet:293925","UMLS:C3280729","medgen:482359"],"information_content":100.0}
{"id":"MONDO:0013741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial temporal lobe epilepsy 5","equivalent_identifiers":["MONDO:0013741","DOID:0060752","OMIM:614417","UMLS:C3280730","medgen:482360"],"information_content":100.0}
{"id":"MONDO:0013743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal systemic lupus erythematosus type 16","equivalent_identifiers":["MONDO:0013743","OMIM:614420","orphanet:300345","UMLS:C3280742","medgen:482372"],"information_content":100.0}
{"id":"MONDO:0013744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 37","equivalent_identifiers":["MONDO:0013744","DOID:0110252","OMIM:614422","UMLS:C3280758","medgen:482388"],"information_content":100.0}
{"id":"MONDO:0013745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 14","equivalent_identifiers":["MONDO:0013745","DOID:0110983","OMIM:614424","UMLS:C3280766","medgen:482396"],"information_content":100.0}
{"id":"MONDO:0013746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular septal defect 1","equivalent_identifiers":["MONDO:0013746","OMIM:614429","UMLS:C3280777","medgen:482407"],"information_content":100.0}
{"id":"MONDO:0013747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrioventricular septal defect 4","equivalent_identifiers":["MONDO:0013747","OMIM:614430","UMLS:C3280781","medgen:482411"],"information_content":100.0}
{"id":"MONDO:0013748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular septal defect 2","equivalent_identifiers":["MONDO:0013748","OMIM:614431","UMLS:C3280783","medgen:482413"],"information_content":100.0}
{"id":"MONDO:0013749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventricular septal defect 3","equivalent_identifiers":["MONDO:0013749","OMIM:614432","UMLS:C3280785","medgen:482415"],"information_content":100.0}
{"id":"MONDO:0013750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 8","equivalent_identifiers":["MONDO:0013750","DOID:0110113","OMIM:614433","UMLS:C3280790","medgen:482420"],"information_content":100.0}
{"id":"MONDO:0013751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa, autosomal dominant 2","equivalent_identifiers":["MONDO:0013751","DOID:0070136","OMIM:614434","UMLS:C3280794","medgen:482424"],"information_content":100.0}
{"id":"MONDO:0013752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoplastic left heart syndrome 2","equivalent_identifiers":["MONDO:0013752","OMIM:614435","UMLS:C3280795","medgen:482425"],"information_content":100.0}
{"id":"MONDO:0013753","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2P","equivalent_identifiers":["MONDO:0013753","DOID:0110169","OMIM:614436","orphanet:300319","orphanet:99941","UMLS:C1837805","UMLS:C3280797","SNOMEDCT:719511005","SNOMEDCT:782826009","medgen:482427"],"information_content":100.0}
{"id":"MONDO:0013754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa, autosomal recessive, type 1B","equivalent_identifiers":["MONDO:0013754","DOID:0070133","OMIM:614437","UMLS:C3280798","medgen:482428"],"information_content":100.0}
{"id":"MONDO:0013755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PYCR1-related de Barsy syndrome","equivalent_identifiers":["MONDO:0013755","DOID:0070138","OMIM:614438","orphanet:293633","UMLS:C3280799","SNOMEDCT:1295488006","medgen:482429"],"information_content":100.0}
{"id":"MONDO:0013756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic osteoarthropathy, primary, autosomal recessive, 2","equivalent_identifiers":["MONDO:0013756","OMIM:614441","UMLS:C3280800","medgen:482430"],"information_content":100.0}
{"id":"MONDO:0013757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital nongoitrous hypothyroidism 6","equivalent_identifiers":["MONDO:0013757","DOID:0070128","OMIM:614450","UMLS:C3280817","medgen:482447"],"information_content":100.0}
{"id":"MONDO:0013758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease dominant intermediate E","equivalent_identifiers":["MONDO:0013758","DOID:0110205","OMIM:614455","orphanet:93114","UMLS:C4302667","SNOMEDCT:722294004","medgen:928336"],"information_content":100.0}
{"id":"MONDO:0013760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome","equivalent_identifiers":["MONDO:0013760","OMIM:614457","orphanet:352333","UMLS:C3280856","SNOMEDCT:1208936008","medgen:482486"],"information_content":100.0}
{"id":"MONDO:0013761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood encephalopathy due to thiamine pyrophosphokinase deficiency","equivalent_identifiers":["MONDO:0013761","OMIM:614458","orphanet:293955","UMLS:C3280866","medgen:482496"],"information_content":100.0}
{"id":"MONDO:0013762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoic acid synthetase deficiency","equivalent_identifiers":["MONDO:0013762","OMIM:614462","orphanet:401859","UMLS:C3280887","medgen:482517"],"information_content":100.0}
{"id":"MONDO:0013763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 15","equivalent_identifiers":["MONDO:0013763","DOID:0110984","OMIM:614464","UMLS:C3280897","medgen:482527"],"information_content":100.0}
{"id":"MONDO:0013764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 16","equivalent_identifiers":["MONDO:0013764","DOID:0110985","OMIM:614465","UMLS:C3280906","medgen:482536"],"information_content":100.0}
{"id":"MONDO:0013765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary heart disease, susceptibility to, 6","equivalent_identifiers":["MONDO:0013765","OMIM:614466","UMLS:C3280913","medgen:482543"],"information_content":100.0}
{"id":"MONDO:0013766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial cold autoinflammatory syndrome 3","equivalent_identifiers":["MONDO:0013766","DOID:0090064","OMIM:614468","orphanet:300359","UMLS:C3280914","UMLS:C4722480","SNOMEDCT:773646003","medgen:482544"],"information_content":100.0}
{"id":"MONDO:0013767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune lymphoproliferative syndrome type 4","equivalent_identifiers":["MONDO:0013767","DOID:0110117","OMIM:614470","orphanet:268114","UMLS:C2674723","SNOMEDCT:723508002","medgen:382434","ICD10:D72.8"],"information_content":100.0}
{"id":"MONDO:0013768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arterial calcification, generalized, of infancy, 2","equivalent_identifiers":["MONDO:0013768","OMIM:614473","UMLS:C3276161","medgen:477791"],"information_content":100.0}
{"id":"MONDO:0013769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrioventricular septal defect 5","equivalent_identifiers":["MONDO:0013769","OMIM:614474","UMLS:C3280939","medgen:482569"],"information_content":100.0}
{"id":"MONDO:0013770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect 9","equivalent_identifiers":["MONDO:0013770","DOID:0110114","OMIM:614475","UMLS:C3280943","medgen:482573"],"information_content":100.0}
{"id":"MONDO:0013771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient infantile hypertriglyceridemia and hepatosteatosis","equivalent_identifiers":["MONDO:0013771","OMIM:614480","orphanet:300293","UMLS:C3280953","medgen:482583"],"information_content":100.0}
{"id":"MONDO:0013772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Huppke-Brendel syndrome","equivalent_identifiers":["MONDO:0013772","OMIM:614482","orphanet:300313","UMLS:C4751114","SNOMEDCT:773648002","medgen:1659966"],"information_content":100.0}
{"id":"MONDO:0013773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porencephaly 2","equivalent_identifiers":["MONDO:0013773","DOID:0112314","OMIM:614483","UMLS:C3280970","medgen:482600"],"information_content":100.0}
{"id":"MONDO:0013774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trigonocephaly 2","equivalent_identifiers":["MONDO:0013774","OMIM:614485","UMLS:C3280974","medgen:482604"],"information_content":100.0}
{"id":"MONDO:0013775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombomodulin-related bleeding disorder","equivalent_identifiers":["MONDO:0013775","DOID:0111908","OMIM:614486","orphanet:436169","UMLS:C3280976","MESH:C566057","SNOMEDCT:1197595004","medgen:482606"],"information_content":100.0}
{"id":"MONDO:0013776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia 5","equivalent_identifiers":["MONDO:0013776","DOID:0050944","OMIM:614487","orphanet:313772","UMLS:C3280977","SNOMEDCT:771469002","medgen:482607"],"information_content":100.0}
{"id":"MONDO:0013777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoaldosteronism type 2B","equivalent_identifiers":["MONDO:0013777","OMIM:614491","orphanet:88939","UMLS:C1840390","MESH:C564161","medgen:374457","icd11.foundation:853594829"],"information_content":100.0}
{"id":"MONDO:0013778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoaldosteronism type 2C","equivalent_identifiers":["MONDO:0013778","OMIM:614492","orphanet:88940","UMLS:C1840391","MESH:C564162","medgen:327089","icd11.foundation:1052840113"],"information_content":100.0}
{"id":"MONDO:0013779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wiskott-Aldrich syndrome 2","equivalent_identifiers":["MONDO:0013779","OMIM:614493","UMLS:C3281001","NCIT:C176820","medgen:482631"],"information_content":100.0}
{"id":"MONDO:0013780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 63","equivalent_identifiers":["MONDO:0013780","DOID:0110385","OMIM:614494","UMLS:C3281002","medgen:482632"],"information_content":100.0}
{"id":"MONDO:0013781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoaldosteronism type 2D","equivalent_identifiers":["MONDO:0013781","OMIM:614495","orphanet:300525","UMLS:C3469605","medgen:483335","icd11.foundation:1679339588"],"information_content":100.0}
{"id":"MONDO:0013782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoaldosteronism type 2E","equivalent_identifiers":["MONDO:0013782","OMIM:614496","orphanet:300530","UMLS:C3469606","medgen:483336","icd11.foundation:1263491925"],"information_content":100.0}
{"id":"MONDO:0013783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with coloboma 7","equivalent_identifiers":["MONDO:0013783","OMIM:614497","UMLS:C3281027","medgen:482657"],"information_content":100.0}
{"id":"MONDO:0013784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal-onset encephalopathy with rigidity and seizures","equivalent_identifiers":["MONDO:0013784","OMIM:614498","orphanet:435845","EFO:0009144","UMLS:C3281029","NCIT:C154618","SNOMEDCT:1197587003","medgen:482659","ICD10:G40.4"],"information_content":100.0}
{"id":"MONDO:0013785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 34","equivalent_identifiers":["MONDO:0013785","DOID:0081200","OMIM:614499","UMLS:C3281044","NCIT:C153179","medgen:482674"],"information_content":100.0}
{"id":"MONDO:0013786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 16","equivalent_identifiers":["MONDO:0013786","DOID:0111022","OMIM:614500","UMLS:C3281045","medgen:482675"],"information_content":100.0}
{"id":"MONDO:0013787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psychomotor retardation, epilepsy, and craniofacial dysmorphism","equivalent_identifiers":["MONDO:0013787","OMIM:614501","UMLS:C3281055","medgen:482685"],"information_content":100.0}
{"id":"MONDO:0013788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 3B","equivalent_identifiers":["MONDO:0013788","DOID:0110842","OMIM:614504","UMLS:C3281066","medgen:482696"],"information_content":100.0}
{"id":"MONDO:0013789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DDOST-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0013789","DOID:0080569","OMIM:614507","orphanet:300536","UMLS:C3281084","SNOMEDCT:733083006","medgen:482714"],"information_content":100.0}
{"id":"MONDO:0013790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mirror movements 2","inheritance":"Typified by incomplete penetrance","equivalent_identifiers":["MONDO:0013790","OMIM:614508","UMLS:C3281089","medgen:482719"],"information_content":100.0}
{"id":"MONDO:0013791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia due to protein S deficiency, autosomal recessive","equivalent_identifiers":["MONDO:0013791","OMIM:614514","UMLS:C3281092","medgen:482722"],"information_content":100.0}
{"id":"MONDO:0013792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracerebral hemorrhage","equivalent_identifiers":["MONDO:0013792","EFO:0005669","EFO:0020921","UMLS:C0472369","UMLS:C0553692","UMLS:C2937358","UMLS:C5234922","MESH:D000083302","MESH:D002543","MEDDRA:10008111","MEDDRA:10008114","MEDDRA:10018972","MEDDRA:10019005","MEDDRA:10019016","MEDDRA:10019529","MEDDRA:10019531","MEDDRA:10019551","MEDDRA:10022737","MEDDRA:10022751","MEDDRA:10022753","MEDDRA:10022754","MEDDRA:10048863","MEDDRA:10055278","MEDDRA:10055293","MEDDRA:10055800","MEDDRA:10055815","MEDDRA:10071793","MEDDRA:10077620","MEDDRA:10077622","MEDDRA:10089379","NCIT:C50485","NCIT:C95803","SNOMEDCT:230706003","SNOMEDCT:274100004","medgen:423648","HP:0001342"],"information_content":82.1}
{"id":"MONDO:0013793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency","equivalent_identifiers":["MONDO:0013793","OMIM:614520","UMLS:C3281106","medgen:482736"],"information_content":100.0}
{"id":"MONDO:0013794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocythemia 3","equivalent_identifiers":["MONDO:0013794","OMIM:614521","UMLS:C3281125","medgen:482755"],"information_content":100.0}
{"id":"MONDO:0013795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrochondrogenesis 2","equivalent_identifiers":["MONDO:0013795","DOID:0080673","OMIM:614524","UMLS:C3281128","medgen:482758"],"information_content":100.0}
{"id":"MONDO:0013796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 17q12 duplication syndrome","equivalent_identifiers":["MONDO:0013796","DOID:0060433","OMIM:614526","orphanet:261272","UMLS:C3281137","SNOMEDCT:764435003","medgen:482767"],"information_content":100.0}
{"id":"MONDO:0013797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 17q12 deletion syndrome","equivalent_identifiers":["MONDO:0013797","DOID:0060404","OMIM:614527","orphanet:261265","UMLS:C3281138","UMLS:C4518822","SNOMEDCT:733519008","medgen:482768"],"information_content":100.0}
{"id":"MONDO:0013798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 16q22 deletion syndrome","equivalent_identifiers":["MONDO:0013798","DOID:0060401","OMIM:614541","orphanet:658540","UMLS:C3281152","medgen:482782"],"information_content":100.0}
{"id":"MONDO:0013800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, kyphoscoliotic type, 2","equivalent_identifiers":["MONDO:0013800","OMIM:614557","orphanet:300179","UMLS:C3281160","UMLS:C4303788","SNOMEDCT:720859009","medgen:482790"],"information_content":100.0}
{"id":"MONDO:0013801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 13","equivalent_identifiers":["MONDO:0013801","DOID:0080445","OMIM:614558","UMLS:C3281191","NCIT:C188139","SNOMEDCT:765170001","medgen:482821"],"information_content":100.0}
{"id":"MONDO:0013802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile cerebellar-retinal degeneration","equivalent_identifiers":["MONDO:0013802","DOID:0050883","OMIM:614559","orphanet:313850","UMLS:C3281192","SNOMEDCT:782822006","medgen:482822"],"information_content":100.0}
{"id":"MONDO:0013803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy with calcifications and cysts","equivalent_identifiers":["MONDO:0013803","OMIM:614561","orphanet:542310","UMLS:C3281200","MESH:C000598644","MEDDRA:10084766","SNOMEDCT:1186710001","medgen:482830"],"information_content":100.0}
{"id":"MONDO:0013805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 13","equivalent_identifiers":["MONDO:0013805","DOID:0061144","DOID:0070043","OMIM:614563","UMLS:C3281202","medgen:482832"],"information_content":100.0}
{"id":"MONDO:0013807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness 1E","equivalent_identifiers":["MONDO:0013807","DOID:0110869","OMIM:614565","UMLS:C3281215","medgen:482845"],"information_content":100.0}
{"id":"MONDO:0013810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COG6-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0013810","DOID:0070264","OMIM:614576","orphanet:464443","UMLS:C3553230","SNOMEDCT:1220574003","medgen:766144"],"information_content":100.0}
{"id":"MONDO:0013811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 9","equivalent_identifiers":["MONDO:0013811","DOID:0111472","OMIM:614582","orphanet:319509","UMLS:C4706315","SNOMEDCT:763209008","medgen:1634481"],"information_content":100.0}
{"id":"MONDO:0013812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Baraitser-winter syndrome 2","equivalent_identifiers":["MONDO:0013812","DOID:0081113","OMIM:614583","UMLS:C3281235","medgen:482865"],"information_content":100.0}
{"id":"MONDO:0013813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 21","equivalent_identifiers":["MONDO:0013813","DOID:0090046","OMIM:614588","orphanet:306734","UMLS:C3281236","SNOMEDCT:716664003","medgen:482866"],"information_content":100.0}
{"id":"MONDO:0013815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bent bone dysplasia syndrome 1","equivalent_identifiers":["MONDO:0013815","DOID:0060992","OMIM:614592","orphanet:313855","UMLS:C3281247","medgen:482877"],"information_content":100.0}
{"id":"MONDO:0013817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preeclampsia/eclampsia 5","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0013817","OMIM:614595","UMLS:C3281288","medgen:482918"],"information_content":100.0}
{"id":"MONDO:0013818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichohepatoenteric syndrome 2","equivalent_identifiers":["MONDO:0013818","DOID:0111416","OMIM:614602","UMLS:C3281289","medgen:482919"],"information_content":100.0}
{"id":"MONDO:0013819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 14","equivalent_identifiers":["MONDO:0013819","DOID:0070044","OMIM:614607","UMLS:C3553247","UMLS:C4749148","medgen:766161"],"information_content":100.0}
{"id":"MONDO:0013820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 15","equivalent_identifiers":["MONDO:0013820","DOID:0070045","OMIM:614608","UMLS:C3553248","medgen:766162"],"information_content":100.0}
{"id":"MONDO:0013821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 16","equivalent_identifiers":["MONDO:0013821","DOID:0070046","OMIM:614609","UMLS:C3553249","medgen:766163"],"information_content":100.0}
{"id":"MONDO:0013822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrodysostosis 2 with or without hormone resistance","equivalent_identifiers":["MONDO:0013822","OMIM:614613","UMLS:C3553250","medgen:766164"],"information_content":100.0}
{"id":"MONDO:0013823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 4B","equivalent_identifiers":["MONDO:0013823","DOID:0110574","OMIM:614614","UMLS:C3281297","medgen:482927"],"information_content":100.0}
{"id":"MONDO:0013824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 17","equivalent_identifiers":["MONDO:0013824","DOID:0110986","OMIM:614615","UMLS:C3553264","NCIT:C175702","medgen:766178"],"information_content":95.4}
{"id":"MONDO:0013825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DIARRHEA 6","equivalent_identifiers":["MONDO:0013825","DOID:0060780","OMIM:614616","orphanet:314373","UMLS:C3553270","medgen:766184"],"information_content":100.0}
{"id":"MONDO:0013826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 86","equivalent_identifiers":["MONDO:0013826","DOID:0110532","OMIM:614617","UMLS:C2829265","medgen:760543"],"information_content":100.0}
{"id":"MONDO:0013827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperekplexia 3","equivalent_identifiers":["MONDO:0013827","DOID:0060698","OMIM:614618","UMLS:C3553288","medgen:766202"],"information_content":100.0}
{"id":"MONDO:0013828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperekplexia 2","equivalent_identifiers":["MONDO:0013828","DOID:0060697","OMIM:614619","UMLS:C3553291","medgen:766205"],"information_content":100.0}
{"id":"MONDO:0013829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"UV-sensitive syndrome 2","equivalent_identifiers":["MONDO:0013829","OMIM:614621","UMLS:C3553298","NCIT:C173110","medgen:766212"],"information_content":100.0}
{"id":"MONDO:0013830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconus 5","equivalent_identifiers":["MONDO:0013830","OMIM:614622","UMLS:C3553302","medgen:766216"],"information_content":100.0}
{"id":"MONDO:0013831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconus 6","equivalent_identifiers":["MONDO:0013831","OMIM:614623","UMLS:C3553306","medgen:766220"],"information_content":100.0}
{"id":"MONDO:0013832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconus 8","equivalent_identifiers":["MONDO:0013832","OMIM:614628","UMLS:C3553307","medgen:766221"],"information_content":100.0}
{"id":"MONDO:0013833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconus 7","equivalent_identifiers":["MONDO:0013833","OMIM:614629","UMLS:C3553308","medgen:766222"],"information_content":100.0}
{"id":"MONDO:0013834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"UV-sensitive syndrome 3","equivalent_identifiers":["MONDO:0013834","OMIM:614640","UMLS:C3553328","NCIT:C173107","medgen:766242"],"information_content":100.0}
{"id":"MONDO:0013835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7","equivalent_identifiers":["MONDO:0013835","DOID:0111234","OMIM:614643","UMLS:C3553330","medgen:766244"],"information_content":100.0}
{"id":"MONDO:0013836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial steroid-resistant nephrotic syndrome with sensorineural deafness","equivalent_identifiers":["MONDO:0013836","DOID:0070243","OMIM:614650","orphanet:280406","UMLS:C3553349","medgen:766263"],"information_content":100.0}
{"id":"MONDO:0013837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-encephaloneuropathy-obesity-valvulopathy syndrome","equivalent_identifiers":["MONDO:0013837","DOID:0070239","OMIM:614651","orphanet:254898","UMLS:C3553354","medgen:766268"],"information_content":100.0}
{"id":"MONDO:0013838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coenzyme Q10 deficiency, primary, 3","equivalent_identifiers":["MONDO:0013838","DOID:0070240","OMIM:614652","UMLS:C3553358","medgen:766272"],"information_content":100.0}
{"id":"MONDO:0013839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory and autonomic neuropathy type 6","equivalent_identifiers":["MONDO:0013839","DOID:0070151","OMIM:614653","orphanet:314381","UMLS:C3539003","SNOMEDCT:1279838005","medgen:761278"],"information_content":100.0}
{"id":"MONDO:0013840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome","equivalent_identifiers":["MONDO:0013840","DOID:0070242","OMIM:614654","orphanet:319678","UMLS:C3553374","medgen:766288"],"information_content":100.0}
{"id":"MONDO:0013842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortisone reductase deficiency 2","equivalent_identifiers":["MONDO:0013842","DOID:0090140","OMIM:614662","UMLS:C3553382","UMLS:C4329210","NCIT:C131084","SNOMEDCT:783696009","medgen:766296"],"information_content":100.0}
{"id":"MONDO:0013843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","equivalent_identifiers":["MONDO:0013843","OMIM:614665","orphanet:314376","UMLS:C4518781","SNOMEDCT:733447005","medgen:1390359"],"information_content":100.0}
{"id":"MONDO:0013845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"auriculocondylar syndrome 2","equivalent_identifiers":["MONDO:0013845","OMIM:614669","UMLS:C3553404","medgen:766318"],"information_content":100.0}
{"id":"MONDO:0013847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 16p11.2 duplication syndrome","equivalent_identifiers":["MONDO:0013847","DOID:0060430","OMIM:614671","orphanet:370079","UMLS:C3553407","UMLS:C4707332","SNOMEDCT:765142003","medgen:766321","ICD10:Q92.3"],"information_content":100.0}
{"id":"MONDO:0013848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 2B","equivalent_identifiers":["MONDO:0013848","DOID:0110441","OMIM:614672","UMLS:C3553409","medgen:766323"],"information_content":100.0}
{"id":"MONDO:0013849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 8, primary, autosomal recessive","equivalent_identifiers":["MONDO:0013849","DOID:0070282","OMIM:614673","UMLS:C3553414","medgen:766328"],"information_content":100.0}
{"id":"MONDO:0013851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant aplasia and myelodysplasia","equivalent_identifiers":["MONDO:0013851","OMIM:614675","orphanet:314399","UMLS:C3808553","medgen:814883"],"information_content":100.0}
{"id":"MONDO:0013852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 21","equivalent_identifiers":["MONDO:0013852","DOID:0110311","OMIM:614676","UMLS:C3553442","medgen:766356"],"information_content":100.0}
{"id":"MONDO:0013853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 1B","equivalent_identifiers":["MONDO:0013853","DOID:0060266","OMIM:614678","UMLS:C3553449","NCIT:C190872","medgen:766363"],"information_content":100.0}
{"id":"MONDO:0013854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 17","equivalent_identifiers":["MONDO:0013854","DOID:0110621","OMIM:614679","UMLS:C3542550","medgen:762261"],"information_content":100.0}
{"id":"MONDO:0013855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"influenza, severe, susceptibility to","equivalent_identifiers":["MONDO:0013855","OMIM:614680","UMLS:C3553462","medgen:766376"],"information_content":100.0}
{"id":"MONDO:0013856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes","equivalent_identifiers":["MONDO:0013856","OMIM:614684","UMLS:C3553465","medgen:766379"],"information_content":100.0}
{"id":"MONDO:0013857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alar cleft, isolated","inheritance":"Sporadic","equivalent_identifiers":["MONDO:0013857","OMIM:614687","UMLS:C3553476","medgen:766390"],"information_content":100.0}
{"id":"MONDO:0013858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontine tegmental cap dysplasia","equivalent_identifiers":["MONDO:0013858","OMIM:614688","orphanet:269229","UMLS:C3541340","SNOMEDCT:782884005","medgen:762040"],"information_content":100.0}
{"id":"MONDO:0013859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 38","equivalent_identifiers":["MONDO:0013859","DOID:0110245","OMIM:614691","UMLS:C3553494","medgen:766408"],"information_content":100.0}
{"id":"MONDO:0013860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic membranous glomerulonephritis","equivalent_identifiers":["MONDO:0013860","OMIM:614692","orphanet:97560","UMLS:C0086445","UMLS:C3553496","NCIT:C123060","SNOMEDCT:722119002","medgen:39226"],"information_content":100.0}
{"id":"MONDO:0013864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cornelia de Lange syndrome 4","equivalent_identifiers":["MONDO:0013864","DOID:0080508","OMIM:614701","UMLS:C3553517","medgen:766431"],"information_content":100.0}
{"id":"MONDO:0013865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency","equivalent_identifiers":["MONDO:0013865","DOID:0111480","OMIM:614702","orphanet:314637","UMLS:C4749921","SNOMEDCT:771478008","medgen:1664257"],"information_content":100.0}
{"id":"MONDO:0013866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 11","equivalent_identifiers":["MONDO:0013866","DOID:0110732","OMIM:614706","orphanet:314629","UMLS:C3539123","NCIT:C188214","medgen:761331"],"information_content":100.0}
{"id":"MONDO:0013867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brown-Vialetto-van Laere syndrome 2","equivalent_identifiers":["MONDO:0013867","DOID:0080786","OMIM:614707","orphanet:572550","UMLS:C3553538","NCIT:C183529","medgen:766452"],"information_content":100.0}
{"id":"MONDO:0013868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis 7, multiple types","equivalent_identifiers":["MONDO:0013868","OMIM:614714","UMLS:C3553549","medgen:766463"],"information_content":100.0}
{"id":"MONDO:0013869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenine phosphoribosyltransferase deficiency","equivalent_identifiers":["MONDO:0013869","DOID:0060350","OMIM:614723","orphanet:976","UMLS:C0268120","UMLS:C3665382","MESH:C538228","MEDDRA:10072609","NCIT:C121564","SNOMEDCT:124274002","medgen:82772","icd11.foundation:753682703"],"information_content":100.0}
{"id":"MONDO:0013870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TMEM165-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0013870","DOID:0070263","OMIM:614727","orphanet:314667","UMLS:C3553571","SNOMEDCT:732252005","medgen:766485"],"information_content":100.0}
{"id":"MONDO:0013871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 6","equivalent_identifiers":["MONDO:0013871","DOID:0070006","OMIM:614728","UMLS:C3553582","medgen:766496"],"information_content":100.0}
{"id":"MONDO:0013872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate cancer, hereditary, 2","equivalent_identifiers":["MONDO:0013872","OMIM:614731","UMLS:C3539120","medgen:761328"],"information_content":100.0}
{"id":"MONDO:0013873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMAGe syndrome","equivalent_identifiers":["MONDO:0013873","DOID:0050885","OMIM:614732","orphanet:85173","UMLS:C1846009","MESH:C564543","NCIT:C130988","SNOMEDCT:702384004","medgen:337364","icd11.foundation:1064803315"],"information_content":100.0}
{"id":"MONDO:0013874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucocorticoid deficiency 4","equivalent_identifiers":["MONDO:0013874","OMIM:614736","UMLS:C3553587","NCIT:C131452","medgen:766501"],"information_content":100.0}
{"id":"MONDO:0013875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome","equivalent_identifiers":["MONDO:0013875","DOID:0110001","OMIM:614739","orphanet:352328","UMLS:C4040739","SNOMEDCT:711409002","medgen:873604"],"information_content":100.0}
{"id":"MONDO:0013877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial pyruvate carrier deficiency","equivalent_identifiers":["MONDO:0013877","DOID:0080363","OMIM:614741","orphanet:447784","UMLS:C3553607","NCIT:C202117","SNOMEDCT:1217212009","medgen:766521"],"information_content":100.0}
{"id":"MONDO:0013878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1","equivalent_identifiers":["MONDO:0013878","OMIM:614742","EFO:1001501","UMLS:C3553617","medgen:766531"],"information_content":100.0}
{"id":"MONDO:0013879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2","equivalent_identifiers":["MONDO:0013879","OMIM:614743","UMLS:C3553622","medgen:766536"],"information_content":100.0}
{"id":"MONDO:0013880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial paresis, hereditary congenital, 3","equivalent_identifiers":["MONDO:0013880","OMIM:614744","UMLS:C3553625","medgen:766539"],"information_content":100.0}
{"id":"MONDO:0013881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome","equivalent_identifiers":["MONDO:0013881","OMIM:614748","orphanet:306504","UMLS:C4518785","SNOMEDCT:733453005","medgen:1388385"],"information_content":100.0}
{"id":"MONDO:0013882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperphosphatasia with intellectual disability syndrome 2","equivalent_identifiers":["MONDO:0013882","DOID:0070434","OMIM:614749","UMLS:C3553637","medgen:766551"],"information_content":100.0}
{"id":"MONDO:0013883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 13","equivalent_identifiers":["MONDO:0013883","DOID:0110676","OMIM:614750","UMLS:C3553645","medgen:766559"],"information_content":100.0}
{"id":"MONDO:0013884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 5B","equivalent_identifiers":["MONDO:0013884","DOID:0111205","OMIM:614751","UMLS:C3553656","medgen:766570"],"information_content":100.0}
{"id":"MONDO:0013885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Malan overgrowth syndrome","equivalent_identifiers":["MONDO:0013885","DOID:0112102","OMIM:614753","orphanet:420179","UMLS:C3553660","SNOMEDCT:763795006","medgen:766574"],"information_content":100.0}
{"id":"MONDO:0013886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar dysfunction with variable cognitive and behavioral abnormalities","equivalent_identifiers":["MONDO:0013886","DOID:0050998","OMIM:614756","orphanet:314647","UMLS:C3553661","UMLS:C4509917","SNOMEDCT:723441001","medgen:766575"],"information_content":100.0}
{"id":"MONDO:0013887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterotaxy, visceral, 6, autosomal","equivalent_identifiers":["MONDO:0013887","DOID:0051020","OMIM:614779","UMLS:C3553676","medgen:766590"],"information_content":100.0}
{"id":"MONDO:0013888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tremor, hereditary essential, 4","equivalent_identifiers":["MONDO:0013888","DOID:0111431","OMIM:614782","UMLS:C3539195","medgen:761337"],"information_content":100.0}
{"id":"MONDO:0013889","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-optic atrophy-Pelger-Huët anomaly syndrome","equivalent_identifiers":["MONDO:0013889","OMIM:614800","orphanet:391677","UMLS:C3541319","medgen:762020"],"information_content":100.0}
{"id":"MONDO:0013890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy with internal nuclei and atypical cores","equivalent_identifiers":["MONDO:0013890","DOID:0111224","OMIM:614807","orphanet:319160","UMLS:C4707232","SNOMEDCT:764945007","medgen:1642424"],"information_content":100.0}
{"id":"MONDO:0013891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 18","equivalent_identifiers":["MONDO:0013891","DOID:0060209","OMIM:614808","UMLS:C3553719","medgen:766633"],"information_content":100.0}
{"id":"MONDO:0013892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C3 glomerulonephritis","equivalent_identifiers":["MONDO:0013892","OMIM:614809","orphanet:329931","UMLS:C3553720","UMLS:C4055342","MEDDRA:10083794","NCIT:C123043","medgen:884569"],"information_content":95.4}
{"id":"MONDO:0013893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple sclerosis, susceptibility to, 5","equivalent_identifiers":["MONDO:0013893","OMIM:614810","UMLS:C3553728","medgen:766642"],"information_content":100.0}
{"id":"MONDO:0013894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome","equivalent_identifiers":["MONDO:0013894","OMIM:614813","orphanet:314394","UMLS:C3542022","SNOMEDCT:773625007","medgen:762199"],"information_content":100.0}
{"id":"MONDO:0013895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adams-Oliver syndrome 3","equivalent_identifiers":["MONDO:0013895","OMIM:614814","UMLS:C3553748","medgen:766662"],"information_content":100.0}
{"id":"MONDO:0013896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 18","equivalent_identifiers":["MONDO:0013896","DOID:0110987","OMIM:614815","UMLS:C3553758","medgen:766672"],"information_content":100.0}
{"id":"MONDO:0013897","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Loeys-Dietz syndrome 4","equivalent_identifiers":["MONDO:0013897","DOID:0070233","OMIM:614816","UMLS:C3553762","medgen:766676"],"information_content":100.0}
{"id":"MONDO:0013898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"karyomegalic interstitial nephritis","equivalent_identifiers":["MONDO:0013898","DOID:0060911","OMIM:614817","orphanet:401996","UMLS:C3553774","NCIT:C173626","SNOMEDCT:782738008","medgen:766688","ICD10:N11.8"],"information_content":100.0}
{"id":"MONDO:0013899","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weill-Marchesani syndrome 3","equivalent_identifiers":["MONDO:0013899","OMIM:614819","UMLS:C3553785","medgen:766699"],"information_content":100.0}
{"id":"MONDO:0013900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alternating hemiplegia of childhood 2","equivalent_identifiers":["MONDO:0013900","OMIM:614820","UMLS:C3553788","medgen:766702"],"information_content":100.0}
{"id":"MONDO:0013901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 10","equivalent_identifiers":["MONDO:0013901","DOID:0070178","OMIM:614822","UMLS:C3553793","medgen:766707"],"information_content":100.0}
{"id":"MONDO:0013902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic valve disease 2","equivalent_identifiers":["MONDO:0013902","DOID:0080334","OMIM:614823","UMLS:C3542024","medgen:762200"],"information_content":100.0}
{"id":"MONDO:0013903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nystagmus 7, congenital, autosomal dominant","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0013903","DOID:0111791","OMIM:614826","UMLS:C3553801","medgen:766715"],"information_content":100.0}
{"id":"MONDO:0013904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8","equivalent_identifiers":["MONDO:0013904","DOID:0111231","OMIM:614830","UMLS:C3553813","medgen:766727"],"information_content":100.0}
{"id":"MONDO:0013905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spinocerebellar ataxia 13","equivalent_identifiers":["MONDO:0013905","DOID:0080062","OMIM:614831","orphanet:324262","UMLS:C3553816","medgen:766730"],"information_content":100.0}
{"id":"MONDO:0013906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta hypomaturation type 2A4","equivalent_identifiers":["MONDO:0013906","DOID:0110062","OMIM:614832","UMLS:C3553830","medgen:766744"],"information_content":100.0}
{"id":"MONDO:0013907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral generalized polymicrogyria","equivalent_identifiers":["MONDO:0013907","DOID:0080920","orphanet:208447","UMLS:C5139324","SNOMEDCT:890287003","medgen:1684616","HP:0032410"],"information_content":100.0}
{"id":"MONDO:0013910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 8 with or without anosmia","equivalent_identifiers":["MONDO:0013910","DOID:0090074","OMIM:614837","UMLS:C3553841","medgen:766755"],"information_content":100.0}
{"id":"MONDO:0013911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 9 with or without anosmia","equivalent_identifiers":["MONDO:0013911","DOID:0090085","OMIM:614838","UMLS:C3553842","medgen:766756"],"information_content":100.0}
{"id":"MONDO:0013912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 10 with or without anosmia","equivalent_identifiers":["MONDO:0013912","DOID:0090089","OMIM:614839","UMLS:C3553843","medgen:766757"],"information_content":100.0}
{"id":"MONDO:0013913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 11 with or without anosmia","equivalent_identifiers":["MONDO:0013913","DOID:0090071","OMIM:614840","UMLS:C3553844","medgen:766758"],"information_content":100.0}
{"id":"MONDO:0013914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 12 with or without anosmia","equivalent_identifiers":["MONDO:0013914","DOID:0090072","OMIM:614841","UMLS:C1856897","MESH:C535764","medgen:347328"],"information_content":100.0}
{"id":"MONDO:0013915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 13 with or without anosmia","equivalent_identifiers":["MONDO:0013915","DOID:0090073","OMIM:614842","UMLS:C3541462","medgen:762090"],"information_content":100.0}
{"id":"MONDO:0013916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 14","equivalent_identifiers":["MONDO:0013916","DOID:0111122","OMIM:614844","UMLS:C3539071","medgen:761313"],"information_content":100.0}
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{"id":"MONDO:0013918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TETRASOMY 15q26","equivalent_identifiers":["MONDO:0013918","OMIM:614846","orphanet:314588","UMLS:C3553858","medgen:766772"],"information_content":100.0}
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{"id":"MONDO:0013922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 7","equivalent_identifiers":["MONDO:0013922","DOID:0070011","OMIM:614851","orphanet:319675","UMLS:C3553870","medgen:766784"],"information_content":100.0}
{"id":"MONDO:0013923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 9, primary, autosomal recessive","equivalent_identifiers":["MONDO:0013923","DOID:0070292","OMIM:614852","UMLS:C3553886","medgen:766800"],"information_content":100.0}
{"id":"MONDO:0013924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 13","equivalent_identifiers":["MONDO:0013924","DOID:0110342","OMIM:614856","UMLS:C3553887","medgen:766801"],"information_content":100.0}
{"id":"MONDO:0013925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic acidemia with homocystinuria, type cblJ","equivalent_identifiers":["MONDO:0013925","OMIM:614857","orphanet:369955","UMLS:C3553915","NCIT:C183526","medgen:766829"],"information_content":100.0}
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{"id":"MONDO:0013928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 23","equivalent_identifiers":["MONDO:0013928","DOID:0090051","OMIM:614860","orphanet:420492","UMLS:C3538999","SNOMEDCT:783242003","medgen:761274"],"information_content":100.0}
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{"id":"MONDO:0013934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to STK4 deficiency","equivalent_identifiers":["MONDO:0013934","OMIM:614868","orphanet:314689","UMLS:C3553943","medgen:766857"],"information_content":100.0}
{"id":"MONDO:0013935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 1J","equivalent_identifiers":["MONDO:0013935","DOID:0110836","OMIM:614869","UMLS:C3553944","medgen:766858"],"information_content":100.0}
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{"id":"MONDO:0013940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 18","equivalent_identifiers":["MONDO:0013940","DOID:0110604","OMIM:614874","UMLS:C3543825","medgen:762331"],"information_content":100.0}
{"id":"MONDO:0013941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","equivalent_identifiers":["MONDO:0013941","OMIM:614875","orphanet:99646","UMLS:C3553958","medgen:766872","icd11.foundation:1777127218"],"information_content":100.0}
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{"id":"MONDO:0013944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","equivalent_identifiers":["MONDO:0013944","DOID:0070615","OMIM:614878","orphanet:324530","UMLS:C3553961","SNOMEDCT:778004006","medgen:766875"],"information_content":100.0}
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{"id":"MONDO:0013947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal recessive 5","equivalent_identifiers":["MONDO:0013947","DOID:0111214","OMIM:614881","orphanet:314485","UMLS:C4749918","SNOMEDCT:771475006","medgen:1667915"],"information_content":100.0}
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{"id":"MONDO:0013953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 28","equivalent_identifiers":["MONDO:0013953","DOID:0111995","OMIM:614889","UMLS:C4013947","NCIT:C176805","medgen:862384"],"information_content":100.0}
{"id":"MONDO:0013954","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency","equivalent_identifiers":["MONDO:0013954","DOID:0111950","OMIM:614890","orphanet:319558","UMLS:C4013948","medgen:862385"],"information_content":100.0}
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{"id":"MONDO:0013962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 53","equivalent_identifiers":["MONDO:0013962","DOID:0110805","OMIM:614898","orphanet:319199","UMLS:C3539494","SNOMEDCT:723823004","medgen:761340"],"information_content":100.0}
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{"id":"MONDO:0013964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 11","equivalent_identifiers":["MONDO:0013964","DOID:0111892","OMIM:614900","UMLS:C3554042","NCIT:C176920","medgen:766956"],"information_content":100.0}
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{"id":"MONDO:0013966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"catecholaminergic polymorphic ventricular tachycardia 4","equivalent_identifiers":["MONDO:0013966","DOID:0060678","OMIM:614916","UMLS:C3554047","medgen:766961"],"information_content":100.0}
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{"id":"MONDO:0013970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branched-chain keto acid dehydrogenase kinase deficiency","equivalent_identifiers":["MONDO:0013970","DOID:0090126","OMIM:614923","orphanet:308410","UMLS:C3554078","medgen:766992"],"information_content":100.0}
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{"id":"MONDO:0013972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perrault syndrome 2","equivalent_identifiers":["MONDO:0013972","DOID:0061117","OMIM:614926","orphanet:642976","UMLS:C3554105","medgen:767019"],"information_content":100.0}
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{"id":"MONDO:0013981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonus, familial","equivalent_identifiers":["MONDO:0013981","OMIM.PS:614937","orphanet:319189","SNOMEDCT:763770005"],"information_content":92.8}
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{"id":"MONDO:0014036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 17","equivalent_identifiers":["MONDO:0014036","DOID:0110049","OMIM:615080","UMLS:C3554452","NCIT:C169104","medgen:767366"],"information_content":100.0}
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{"id":"MONDO:0014042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"left ventricular noncompaction 7","equivalent_identifiers":["MONDO:0014042","OMIM:615092","UMLS:C3554496","NCIT:C157266","medgen:767410"],"information_content":100.0}
{"id":"MONDO:0014043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephalic primordial dwarfism due to ZNF335 deficiency","equivalent_identifiers":["MONDO:0014043","DOID:0070294","OMIM:615095","orphanet:329228","UMLS:C3554499","UMLS:C4510378","SNOMEDCT:724141003","medgen:767413"],"information_content":100.0}
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{"id":"MONDO:0014046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cowden syndrome 4","equivalent_identifiers":["MONDO:0014046","DOID:0081000","OMIM:615107","UMLS:C3554517","medgen:767431"],"information_content":100.0}
{"id":"MONDO:0014047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cowden syndrome 5","equivalent_identifiers":["MONDO:0014047","DOID:0081001","OMIM:615108","UMLS:C3554518","medgen:767432"],"information_content":100.0}
{"id":"MONDO:0014048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cowden syndrome 6","equivalent_identifiers":["MONDO:0014048","DOID:0081002","OMIM:615109","UMLS:C3554519","medgen:767433"],"information_content":100.0}
{"id":"MONDO:0014049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urofacial syndrome 2","equivalent_identifiers":["MONDO:0014049","OMIM:615112","UMLS:C3554520","medgen:767434"],"information_content":100.0}
{"id":"MONDO:0014050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia 8","equivalent_identifiers":["MONDO:0014050","DOID:0060841","OMIM:615113","UMLS:C3554524","medgen:767438"],"information_content":100.0}
{"id":"MONDO:0014051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2","equivalent_identifiers":["MONDO:0014051","DOID:0080358","OMIM:615119","UMLS:C3554534","medgen:767448"],"information_content":100.0}
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{"id":"MONDO:0014057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maple syrup urine disease, mild variant","equivalent_identifiers":["MONDO:0014057","OMIM:615135","UMLS:C3554575","medgen:767489"],"information_content":100.0}
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{"id":"MONDO:0014059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with coloboma 9","equivalent_identifiers":["MONDO:0014059","OMIM:615145","UMLS:C3554592","UMLS:C5193017","UMLS:C5193150","medgen:767506"],"information_content":100.0}
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{"id":"MONDO:0014061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Steel syndrome","equivalent_identifiers":["MONDO:0014061","OMIM:615155","orphanet:438117","UMLS:C3554594","SNOMEDCT:1197589000","medgen:767508"],"information_content":100.0}
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{"id":"MONDO:0014063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex III deficiency nuclear type 2","equivalent_identifiers":["MONDO:0014063","DOID:0060351","OMIM:615157","UMLS:C3554605","medgen:767519"],"information_content":100.0}
{"id":"MONDO:0014064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex III deficiency nuclear type 3","equivalent_identifiers":["MONDO:0014064","DOID:0080112","OMIM:615158","UMLS:C3554606","medgen:767520"],"information_content":100.0}
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{"id":"MONDO:0014068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 17","equivalent_identifiers":["MONDO:0014068","DOID:0111023","OMIM:615163","UMLS:C3554610","medgen:767524"],"information_content":100.0}
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{"id":"MONDO:0014070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 7","equivalent_identifiers":["MONDO:0014070","DOID:0070100","OMIM:615179","orphanet:352745","UMLS:C3808786","SNOMEDCT:722059002","medgen:815116"],"information_content":100.0}
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{"id":"MONDO:0014074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease dominant intermediate F","equivalent_identifiers":["MONDO:0014074","DOID:0110206","OMIM:615185","orphanet:352670","UMLS:C4749463","SNOMEDCT:770759001","medgen:1666273"],"information_content":100.0}
{"id":"MONDO:0014075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 39 multiple types","equivalent_identifiers":["MONDO:0014075","DOID:0110236","OMIM:615188","UMLS:C3808800","medgen:815130"],"information_content":100.0}
{"id":"MONDO:0014077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly 5","equivalent_identifiers":["MONDO:0014077","DOID:0112230","OMIM:615191","orphanet:352682","UMLS:C3554657","medgen:767571"],"information_content":100.0}
{"id":"MONDO:0014078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 15","equivalent_identifiers":["MONDO:0014078","DOID:0111053","OMIM:615193","UMLS:C3554663","medgen:767577"],"information_content":100.0}
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{"id":"MONDO:0014081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency due to CARD11 deficiency","equivalent_identifiers":["MONDO:0014081","DOID:0111957","OMIM:615206","orphanet:357237","UMLS:C3554686","medgen:767600"],"information_content":100.0}
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{"id":"MONDO:0014083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia 7, autosomal recessive","equivalent_identifiers":["MONDO:0014083","DOID:0081139","OMIM:615214","UMLS:C3554689","medgen:767603"],"information_content":100.0}
{"id":"MONDO:0014084","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia with oculomotor apraxia type 3","equivalent_identifiers":["MONDO:0014084","DOID:0060557","OMIM:615217","UMLS:C3554690","NCIT:C173403","medgen:767604"],"information_content":100.0}
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{"id":"MONDO:0014086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 15","equivalent_identifiers":["MONDO:0014086","DOID:0110347","OMIM:615220","UMLS:C3808844","medgen:815174"],"information_content":100.0}
{"id":"MONDO:0014087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Smith-McCort dysplasia 2","equivalent_identifiers":["MONDO:0014087","DOID:0081271","OMIM:615222","UMLS:C3714896","medgen:811489"],"information_content":100.0}
{"id":"MONDO:0014088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"advanced sleep phase syndrome 2","equivalent_identifiers":["MONDO:0014088","DOID:0110012","OMIM:615224","UMLS:C3808874","medgen:815204"],"information_content":100.0}
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{"id":"MONDO:0014092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 18","equivalent_identifiers":["MONDO:0014092","DOID:0070093","OMIM:615232","UMLS:C3808913","medgen:815243"],"information_content":100.0}
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{"id":"MONDO:0014096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"WOODS SYNDROME","equivalent_identifiers":["MONDO:0014096","OMIM:615236","UMLS:C0796203","SNOMEDCT:719396000","medgen:490089"],"information_content":100.0}
{"id":"MONDO:0014097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital short bowel syndrome","equivalent_identifiers":["MONDO:0014097","orphanet:2301","UMLS:C5441717","SNOMEDCT:715201005","medgen:1784105","icd11.foundation:1672462112"],"information_content":92.8}
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{"id":"MONDO:0014099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 8","equivalent_identifiers":["MONDO:0014099","DOID:0080389","OMIM:615244","UMLS:C3808953","medgen:815283"],"information_content":100.0}
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{"id":"MONDO:0014108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group Q","equivalent_identifiers":["MONDO:0014108","DOID:0111093","OMIM:615272","UMLS:C3808988","medgen:815318"],"information_content":100.0}
{"id":"MONDO:0014110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 15 multiple types","equivalent_identifiers":["MONDO:0014110","DOID:0110251","OMIM:615274","UMLS:C3809001","medgen:815331"],"information_content":100.0}
{"id":"MONDO:0014111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 19 multiple types","equivalent_identifiers":["MONDO:0014111","DOID:0110263","OMIM:615277","UMLS:C3809004","medgen:815334"],"information_content":100.0}
{"id":"MONDO:0014112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiofaciocutaneous syndrome 2","equivalent_identifiers":["MONDO:0014112","DOID:0111461","OMIM:615278","UMLS:C3809005","medgen:815335"],"information_content":100.0}
{"id":"MONDO:0014113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiofaciocutaneous syndrome 3","equivalent_identifiers":["MONDO:0014113","DOID:0111462","OMIM:615279","UMLS:C3809006","medgen:815336"],"information_content":100.0}
{"id":"MONDO:0014114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiofaciocutaneous syndrome 4","equivalent_identifiers":["MONDO:0014114","DOID:0111463","OMIM:615280","UMLS:C3809007","medgen:815337"],"information_content":100.0}
{"id":"MONDO:0014115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelination with brain stem and spinal cord involvement and leg spasticity","equivalent_identifiers":["MONDO:0014115","OMIM:615281","orphanet:363412","UMLS:C4755254","SNOMEDCT:777999008","medgen:1667792"],"information_content":100.0}
{"id":"MONDO:0014116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex cortical dysplasia with other brain malformations 2","equivalent_identifiers":["MONDO:0014116","DOID:0090133","OMIM:615282","UMLS:C3809013","medgen:815343"],"information_content":100.0}
{"id":"MONDO:0014117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4B3","equivalent_identifiers":["MONDO:0014117","DOID:0110194","OMIM:615284","orphanet:363981","UMLS:C3695063","NCIT:C190871","SNOMEDCT:763345008","medgen:811329"],"information_content":100.0}
{"id":"MONDO:0014118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital neutropenia-myelofibrosis-nephromegaly syndrome","equivalent_identifiers":["MONDO:0014118","DOID:0112132","OMIM:615285","orphanet:369852","UMLS:C3809031","NCIT:C176612","medgen:815361"],"information_content":100.0}
{"id":"MONDO:0014119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-strabismus syndrome","equivalent_identifiers":["MONDO:0014119","DOID:0081099","OMIM:615286","orphanet:363528","UMLS:C4750838","NCIT:C186789","SNOMEDCT:773405004","medgen:1665943"],"information_content":100.0}
{"id":"MONDO:0014120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13","equivalent_identifiers":["MONDO:0014120","DOID:0111238","OMIM:615287","UMLS:C3809042","medgen:815372"],"information_content":100.0}
{"id":"MONDO:0014121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures","equivalent_identifiers":["MONDO:0014121","DOID:0070349","OMIM:615290","orphanet:363454","UMLS:C4747715","NCIT:C191766","medgen:1669929"],"information_content":100.0}
{"id":"MONDO:0014122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibromatosis, infantile, 2","equivalent_identifiers":["MONDO:0014122","OMIM:615293","UMLS:C3809084","NCIT:C176944","medgen:815414"],"information_content":92.8}
{"id":"MONDO:0014123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 21","equivalent_identifiers":["MONDO:0014123","DOID:0110596","OMIM:615294","UMLS:C3809087","medgen:815417"],"information_content":100.0}
{"id":"MONDO:0014124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adams-Oliver syndrome 4","equivalent_identifiers":["MONDO:0014124","OMIM:615297","UMLS:C3809092","medgen:815422"],"information_content":100.0}
{"id":"MONDO:0014125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symphalangism, proximal, 1B","equivalent_identifiers":["MONDO:0014125","DOID:0080788","OMIM:615298","UMLS:C3809104","medgen:815434"],"information_content":100.0}
{"id":"MONDO:0014126","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perrault syndrome 4","equivalent_identifiers":["MONDO:0014126","OMIM:615300","UMLS:C3809105","medgen:815435"],"information_content":100.0}
{"id":"MONDO:0014127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 5","equivalent_identifiers":["MONDO:0014127","DOID:0070099","OMIM:615312","orphanet:370091","UMLS:C3888401","SNOMEDCT:722057000","medgen:854888"],"information_content":100.0}
{"id":"MONDO:0014128","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TCF12-related craniosynostosis","equivalent_identifiers":["MONDO:0014128","DOID:0061011","OMIM:615314","orphanet:672979","UMLS:C3715051","medgen:811568"],"information_content":100.0}
{"id":"MONDO:0014130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dowling-Degos disease 2","equivalent_identifiers":["MONDO:0014130","OMIM:615327","UMLS:C3809147","medgen:815477"],"information_content":100.0}
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{"id":"MONDO:0014132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple mitochondrial dysfunctions syndrome 3","equivalent_identifiers":["MONDO:0014132","DOID:0080135","OMIM:615330","orphanet:363424","UMLS:C3809165","NCIT:C202608","SNOMEDCT:1208620009","medgen:815495"],"information_content":100.0}
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{"id":"MONDO:0014134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary hypertension, primary, 2","inheritance":"Typified by incomplete penetrance","equivalent_identifiers":["MONDO:0014134","OMIM:615342","UMLS:C3888002","medgen:854709"],"information_content":100.0}
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{"id":"MONDO:0014137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"precocious puberty, central, 2","inheritance":"Autosomal dominant inheritance with maternal imprinting","equivalent_identifiers":["MONDO:0014137","DOID:0112309","OMIM:615346","UMLS:C3809199","MESH:C000726751","medgen:815529"],"information_content":100.0}
{"id":"MONDO:0014138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nemaline myopathy 8","equivalent_identifiers":["MONDO:0014138","DOID:0110930","OMIM:615348","UMLS:C3809209","NCIT:C129871","medgen:815539"],"information_content":100.0}
{"id":"MONDO:0014139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, spondylodysplastic type, 2","equivalent_identifiers":["MONDO:0014139","OMIM:615349","orphanet:536467","UMLS:C3809210","SNOMEDCT:1251499005","medgen:815540"],"information_content":100.0}
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{"id":"MONDO:0014141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14","equivalent_identifiers":["MONDO:0014141","DOID:0112377","OMIM:615351","UMLS:C3809221","medgen:815551"],"information_content":100.0}
{"id":"MONDO:0014142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2T","equivalent_identifiers":["MONDO:0014142","DOID:0110294","OMIM:615352","orphanet:363623","UMLS:C4518000","SNOMEDCT:732930007","medgen:1377325"],"information_content":100.0}
{"id":"MONDO:0014143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 8","equivalent_identifiers":["MONDO:0014143","DOID:0060586","OMIM:615355","UMLS:C3809233","NCIT:C176936","medgen:815563"],"information_content":100.0}
{"id":"MONDO:0014144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type R18","equivalent_identifiers":["MONDO:0014144","DOID:0110287","OMIM:615356","orphanet:369840","UMLS:C4517996","SNOMEDCT:732929002","medgen:1385598"],"information_content":100.0}
{"id":"MONDO:0014145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis 17","equivalent_identifiers":["MONDO:0014145","DOID:0110217","OMIM:615360","UMLS:C3715164","medgen:811616"],"information_content":100.0}
{"id":"MONDO:0014146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant hypocalcemia 2","equivalent_identifiers":["MONDO:0014146","DOID:0090108","OMIM:615361","UMLS:C3809243","medgen:815573"],"information_content":100.0}
{"id":"MONDO:0014147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis 13","equivalent_identifiers":["MONDO:0014147","DOID:0110727","OMIM:615362","orphanet:352709","UMLS:C3715049","medgen:811566"],"information_content":100.0}
{"id":"MONDO:0014148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"estrogen resistance syndrome","equivalent_identifiers":["MONDO:0014148","OMIM:615363","orphanet:785","UMLS:C3809250","UMLS:C4510972","SNOMEDCT:724555000","medgen:815580","icd11.foundation:1267163286"],"information_content":100.0}
{"id":"MONDO:0014149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal akinesia-cerebral and retinal hemorrhage syndrome","equivalent_identifiers":["MONDO:0014149","OMIM:615368","orphanet:363409","UMLS:C4706410","SNOMEDCT:763346009","medgen:1631944"],"information_content":100.0}
{"id":"MONDO:0014150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy 94","equivalent_identifiers":["MONDO:0014150","DOID:0081325","OMIM:615369","EFO:0020000","UMLS:C3809278","NCIT:C172100","medgen:815608"],"information_content":100.0}
{"id":"MONDO:0014151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary hypertension, neonatal, susceptibility to","equivalent_identifiers":["MONDO:0014151","OMIM:615371","UMLS:C3714958","medgen:811528"],"information_content":100.0}
{"id":"MONDO:0014152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"left ventricular noncompaction 8","equivalent_identifiers":["MONDO:0014152","DOID:0081157","OMIM:615373","UMLS:C3809288","medgen:815618"],"information_content":100.0}
{"id":"MONDO:0014153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 18","equivalent_identifiers":["MONDO:0014153","DOID:0111024","OMIM:615374","UMLS:C3809299","medgen:815629"],"information_content":100.0}
{"id":"MONDO:0014154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease recessive intermediate C","equivalent_identifiers":["MONDO:0014154","DOID:0110198","OMIM:615376","orphanet:369867","UMLS:C3809309","medgen:815639"],"information_content":100.0}
{"id":"MONDO:0014155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 13","equivalent_identifiers":["MONDO:0014155","OMIM:615377","UMLS:C3809311","medgen:815641"],"information_content":100.0}
{"id":"MONDO:0014156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 14","equivalent_identifiers":["MONDO:0014156","OMIM:615378","UMLS:C3809312","medgen:815642"],"information_content":100.0}
{"id":"MONDO:0014157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibular hypoplasia-deafness-progeroid syndrome","equivalent_identifiers":["MONDO:0014157","OMIM:615381","orphanet:363649","UMLS:C3715192","medgen:811623"],"information_content":100.0}
{"id":"MONDO:0014158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 16","equivalent_identifiers":["MONDO:0014158","DOID:0111124","OMIM:615382","UMLS:C3809320","SNOMEDCT:444558002","medgen:815650"],"information_content":100.0}
{"id":"MONDO:0014159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spinocerebellar ataxia 14","equivalent_identifiers":["MONDO:0014159","DOID:0080058","OMIM:615386","orphanet:352403","UMLS:C4706415","SNOMEDCT:763351003","medgen:1636182"],"information_content":100.0}
{"id":"MONDO:0014160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TCR-alpha-beta-positive T-cell deficiency","equivalent_identifiers":["MONDO:0014160","DOID:0111977","OMIM:615387","orphanet:397959","UMLS:C3809332","medgen:815662"],"information_content":100.0}
{"id":"MONDO:0014162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","equivalent_identifiers":["MONDO:0014162","DOID:0111469","OMIM:615395","orphanet:352563","UMLS:C3809339","medgen:815669"],"information_content":100.0}
{"id":"MONDO:0014163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"left ventricular noncompaction 10","equivalent_identifiers":["MONDO:0014163","OMIM:615396","UMLS:C3715165","medgen:811617"],"information_content":100.0}
{"id":"MONDO:0014164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome, type 11","equivalent_identifiers":["MONDO:0014164","OMIM:615397","UMLS:C3809352","medgen:815682"],"information_content":100.0}
{"id":"MONDO:0014165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple congenital anomalies-hypotonia-seizures syndrome 3","equivalent_identifiers":["MONDO:0014165","DOID:0080140","OMIM:615398","orphanet:369837","UMLS:C1863767","UMLS:C3809356","MESH:C566367","medgen:815686"],"information_content":100.0}
{"id":"MONDO:0014166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal nocturnal hemoglobinuria 2","equivalent_identifiers":["MONDO:0014166","OMIM:615399","UMLS:C3809369","medgen:815699"],"information_content":100.0}
{"id":"MONDO:0014167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial adult myoclonic, 5","equivalent_identifiers":["MONDO:0014167","DOID:0111691","OMIM:615400","UMLS:C3809374","medgen:815704"],"information_content":100.0}
{"id":"MONDO:0014168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency due to CORO1A deficiency","equivalent_identifiers":["MONDO:0014168","DOID:0060019","OMIM:615401","orphanet:228003","UMLS:C3809383","SNOMEDCT:1229942009","medgen:815713","icd11.foundation:575769539"],"information_content":100.0}
{"id":"MONDO:0014169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyschromatosis universalis hereditaria 3","equivalent_identifiers":["MONDO:0014169","OMIM:615402","UMLS:C3809394","medgen:815724"],"information_content":100.0}
{"id":"MONDO:0014170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex cortical dysplasia with other brain malformations 3","equivalent_identifiers":["MONDO:0014170","DOID:0090134","OMIM:615411","UMLS:C3809414","medgen:815744"],"information_content":100.0}
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{"id":"MONDO:0014233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset Parkinson disease 20","equivalent_identifiers":["MONDO:0014233","DOID:0060898","OMIM:615530","UMLS:C3809824","NCIT:C203535","medgen:816154"],"information_content":100.0}
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{"id":"MONDO:0014235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 22q13 duplication syndrome","equivalent_identifiers":["MONDO:0014235","DOID:0060437","OMIM:615538","UMLS:C3809844","medgen:816174"],"information_content":100.0}
{"id":"MONDO:0014236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, musculocontractural type 2","equivalent_identifiers":["MONDO:0014236","DOID:0080735","DOID:0080737","OMIM:615539","UMLS:C3809845","medgen:816175"],"information_content":100.0}
{"id":"MONDO:0014237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 76","equivalent_identifiers":["MONDO:0014237","DOID:0110524","OMIM:615540","UMLS:C3147083","medgen:811137"],"information_content":100.0}
{"id":"MONDO:0014238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome","equivalent_identifiers":["MONDO:0014238","DOID:0081204","OMIM:615541","orphanet:391307","UMLS:C3809853","medgen:816183"],"information_content":100.0}
{"id":"MONDO:0014239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular anomalies with or without congenital heart disease","equivalent_identifiers":["MONDO:0014239","OMIM:615542","UMLS:C3809858","medgen:816188"],"information_content":100.0}
{"id":"MONDO:0014240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periventricular nodular heterotopia 6","equivalent_identifiers":["MONDO:0014240","OMIM:615544","UMLS:C3809872","medgen:816202"],"information_content":100.0}
{"id":"MONDO:0014242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van Maldergem syndrome 2","equivalent_identifiers":["MONDO:0014242","DOID:0080586","OMIM:615546","UMLS:C3809875","NCIT:C188994","medgen:816205"],"information_content":100.0}
{"id":"MONDO:0014243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schaaf-Yang syndrome","equivalent_identifiers":["MONDO:0014243","DOID:0111715","OMIM:615547","orphanet:398069","UMLS:C1859724","UMLS:C5575066","MESH:C000726748","MESH:C535385","SNOMEDCT:1229946007","medgen:1807366"],"information_content":100.0}
{"id":"MONDO:0014244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory and autonomic neuropathy type 7","equivalent_identifiers":["MONDO:0014244","DOID:0070149","OMIM:615548","orphanet:391397","UMLS:C3809882","NCIT:C125388","SNOMEDCT:783550006","medgen:816212","ICD10:G60.8"],"information_content":100.0}
{"id":"MONDO:0014245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 12","equivalent_identifiers":["MONDO:0014245","DOID:0111882","OMIM:615550","UMLS:C3809888","medgen:816218"],"information_content":100.0}
{"id":"MONDO:0014246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic pain syndrome, familial, 2","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0014246","DOID:0111730","OMIM:615551","UMLS:C3809893","medgen:816223"],"information_content":100.0}
{"id":"MONDO:0014247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial episodic pain syndrome with predominantly lower limb involvement","equivalent_identifiers":["MONDO:0014247","DOID:0111731","OMIM:615552","orphanet:391392","UMLS:C3809899","NCIT:C125390","medgen:816229"],"information_content":100.0}
{"id":"MONDO:0014248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism spectrum disorder - epilepsy - arthrogryposis syndrome","equivalent_identifiers":["MONDO:0014248","OMIM:615553","orphanet:370943","UMLS:C3809910","medgen:816240"],"information_content":100.0}
{"id":"MONDO:0014249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple fibroadenoma of the breast","equivalent_identifiers":["MONDO:0014249","OMIM:615554","UMLS:C3809918","SNOMEDCT:721601007","medgen:816248"],"information_content":100.0}
{"id":"MONDO:0014250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hyperprolactinemia","equivalent_identifiers":["MONDO:0014250","OMIM:615555","orphanet:397685","UMLS:C4706551","SNOMEDCT:763715007","medgen:1645317"],"information_content":100.0}
{"id":"MONDO:0014251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melioidosis, susceptibility to","equivalent_identifiers":["MONDO:0014251","OMIM:615557","UMLS:C3715193","UMLS:C3809925","medgen:816255"],"information_content":100.0}
{"id":"MONDO:0014252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypobetalipoproteinemia 1","equivalent_identifiers":["MONDO:0014252","DOID:0111062","OMIM:615558","UMLS:C1862596","UMLS:C4551990","UMLS:C4760580","MESH:C566267","SNOMEDCT:60193003","medgen:1639219"],"information_content":100.0}
{"id":"MONDO:0014254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otofaciocervical syndrome 2","equivalent_identifiers":["MONDO:0014254","OMIM:615560","UMLS:C5442121","medgen:1782278"],"information_content":100.0}
{"id":"MONDO:0014255","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complement factor b deficiency","equivalent_identifiers":["MONDO:0014255","OMIM:615561","UMLS:C3809950","medgen:816280"],"information_content":100.0}
{"id":"MONDO:0014256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 67","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0014256","DOID:0110359","OMIM:615565","UMLS:C3809954","medgen:816284"],"information_content":100.0}
{"id":"MONDO:0014257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 9","equivalent_identifiers":["MONDO:0014257","DOID:0080391","OMIM:615573","UMLS:C3809965","medgen:816295"],"information_content":100.0}
{"id":"MONDO:0014258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome","equivalent_identifiers":["MONDO:0014258","OMIM:615574","orphanet:391376","UMLS:C3809971","NCIT:C168586","SNOMEDCT:782757004","medgen:816301"],"information_content":100.0}
{"id":"MONDO:0014259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 2D","equivalent_identifiers":["MONDO:0014259","DOID:0111210","OMIM:615575","UMLS:C3888271","medgen:854832"],"information_content":100.0}
{"id":"MONDO:0014261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome","equivalent_identifiers":["MONDO:0014261","DOID:0111484","OMIM:615578","orphanet:391348","UMLS:C3810001","medgen:816331"],"information_content":100.0}
{"id":"MONDO:0014262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rienhoff syndrome","equivalent_identifiers":["MONDO:0014262","DOID:0070236","OMIM:615582","EFO:1000012","UMLS:C3810012","NCIT:C188143","medgen:816342"],"information_content":100.0}
{"id":"MONDO:0014263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"8q24.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0014263","OMIM:615583","orphanet:508488","UMLS:C3810023","SNOMEDCT:1229895008","medgen:816353"],"information_content":100.0}
{"id":"MONDO:0014264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otosclerosis 10","equivalent_identifiers":["MONDO:0014264","DOID:0060927","OMIM:615589","UMLS:C3888339","medgen:854867"],"information_content":100.0}
{"id":"MONDO:0014265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 18","equivalent_identifiers":["MONDO:0014265","DOID:0110050","OMIM:615590","UMLS:C3810041","medgen:816371"],"information_content":100.0}
{"id":"MONDO:0014266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age related macular degeneration 15","equivalent_identifiers":["MONDO:0014266","DOID:0110027","OMIM:615591","UMLS:C3810042","medgen:816372"],"information_content":100.0}
{"id":"MONDO:0014267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency due to IKK2 deficiency","equivalent_identifiers":["MONDO:0014267","DOID:0111959","OMIM:615592","orphanet:397787","UMLS:C4747743","medgen:1648569"],"information_content":100.0}
{"id":"MONDO:0014268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to OX40 deficiency","equivalent_identifiers":["MONDO:0014268","DOID:0111935","OMIM:615593","orphanet:431149","UMLS:C3810053","UMLS:C4707864","SNOMEDCT:766879006","medgen:816383"],"information_content":100.0}
{"id":"MONDO:0014269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 19","equivalent_identifiers":["MONDO:0014269","DOID:0111476","OMIM:615595","orphanet:397593","UMLS:C3810055","medgen:816385"],"information_content":100.0}
{"id":"MONDO:0014270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"STT3A-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0014270","DOID:0080572","OMIM:615596","orphanet:370921","UMLS:C3810062","UMLS:C5561935","SNOMEDCT:733111000","medgen:1794145"],"information_content":100.0}
{"id":"MONDO:0014271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"STT3B-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0014271","DOID:0080573","OMIM:615597","orphanet:370924","UMLS:C2931007","MESH:C535751","SNOMEDCT:733112007","medgen:419309"],"information_content":100.0}
{"id":"MONDO:0014272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma, Nagashima type","equivalent_identifiers":["MONDO:0014272","DOID:0070555","OMIM:615598","orphanet:140966","UMLS:C3810072","SNOMEDCT:722205008","medgen:816402"],"information_content":100.0}
{"id":"MONDO:0014273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-thin corpus callosum-intellectual disability syndrome","equivalent_identifiers":["MONDO:0014273","DOID:0081205","OMIM:615599","orphanet:397951","UMLS:C3810080","medgen:816410"],"information_content":100.0}
{"id":"MONDO:0014274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"L-ferritin deficiency","equivalent_identifiers":["MONDO:0014274","OMIM:615604","orphanet:440731","UMLS:C3810090","SNOMEDCT:1217208003","medgen:816420"],"information_content":100.0}
{"id":"MONDO:0014275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi renotubular syndrome 3","equivalent_identifiers":["MONDO:0014275","DOID:0080759","OMIM:615605","UMLS:C3810100","medgen:816430"],"information_content":100.0}
{"id":"MONDO:0014276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to CD3gamma deficiency","equivalent_identifiers":["MONDO:0014276","DOID:0060018","DOID:0111973","OMIM:615607","orphanet:169082","UMLS:C3810107","UMLS:C4510864","SNOMEDCT:725135004","medgen:816437"],"information_content":100.0}
{"id":"MONDO:0014277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental dysplasia of the hip 2","equivalent_identifiers":["MONDO:0014277","DOID:0060932","OMIM:615612","UMLS:C3715079","medgen:811575"],"information_content":100.0}
{"id":"MONDO:0014278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 18","equivalent_identifiers":["MONDO:0014278","DOID:0060017","DOID:0111971","OMIM:615615","UMLS:C3810127","UMLS:C3810128","medgen:816457"],"information_content":100.0}
{"id":"MONDO:0014280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 19","equivalent_identifiers":["MONDO:0014280","DOID:0060016","DOID:0111972","OMIM:615617","UMLS:C3810147","medgen:816477"],"information_content":100.0}
{"id":"MONDO:0014282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 72","equivalent_identifiers":["MONDO:0014282","DOID:0070642","DOID:0110817","OMIM:615625","orphanet:401849","UMLS:C5882669","medgen:1847422"],"information_content":100.0}
{"id":"MONDO:0014283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 56","equivalent_identifiers":["MONDO:0014283","DOID:0110581","OMIM:615629","UMLS:C3810170","medgen:816500"],"information_content":100.0}
{"id":"MONDO:0014284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 10 with or without polydactyly","equivalent_identifiers":["MONDO:0014284","DOID:0110091","OMIM:615630","UMLS:C3810175","medgen:816505"],"information_content":100.0}
{"id":"MONDO:0014285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital dyserythropoietic anemia type type 1B","equivalent_identifiers":["MONDO:0014285","DOID:0111397","OMIM:615631","UMLS:C3810185","medgen:816515"],"information_content":100.0}
{"id":"MONDO:0014286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary sensory, type 1F","equivalent_identifiers":["MONDO:0014286","DOID:0070154","OMIM:615632","UMLS:C3810194","medgen:816524"],"information_content":100.0}
{"id":"MONDO:0014287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 11 with or without polydactyly","equivalent_identifiers":["MONDO:0014287","DOID:0110095","OMIM:615633","UMLS:C3810200","medgen:816530"],"information_content":100.0}
{"id":"MONDO:0014288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 21","equivalent_identifiers":["MONDO:0014288","DOID:0110990","OMIM:615636","UMLS:C3810212","medgen:816542"],"information_content":100.0}
{"id":"MONDO:0014289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocephaly-developmental delay syndrome","equivalent_identifiers":["MONDO:0014289","DOID:0081206","OMIM:615637","orphanet:397612","UMLS:C3810225","medgen:816555"],"information_content":100.0}
{"id":"MONDO:0014290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration with brain iron accumulation 6","equivalent_identifiers":["MONDO:0014290","DOID:0110740","OMIM:615643","orphanet:397725","UMLS:C4517377","SNOMEDCT:732264002","medgen:1387791"],"information_content":100.0}
{"id":"MONDO:0014291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 54","equivalent_identifiers":["MONDO:0014291","DOID:0110580","OMIM:615649","UMLS:C3888029","medgen:854731"],"information_content":100.0}
{"id":"MONDO:0014292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy with mild cerebellar ataxia and white matter edema","equivalent_identifiers":["MONDO:0014292","OMIM:615651","orphanet:363540","UMLS:C4554120","NCIT:C171603","SNOMEDCT:768663003","medgen:1638681"],"information_content":100.0}
{"id":"MONDO:0014293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 58","equivalent_identifiers":["MONDO:0014293","DOID:0110582","OMIM:615654","UMLS:C3888210","NCIT:C201585","medgen:854817"],"information_content":100.0}
{"id":"MONDO:0014294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 15q11.2 deletion syndrome","equivalent_identifiers":["MONDO:0014294","DOID:0060393","OMIM:615656","orphanet:261183","UMLS:C3180937","medgen:467404"],"information_content":100.0}
{"id":"MONDO:0014295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 57","equivalent_identifiers":["MONDO:0014295","DOID:0110809","OMIM:615658","orphanet:431329","EFO:0009017","UMLS:C3714897","SNOMEDCT:723826007","medgen:811490"],"information_content":100.0}
{"id":"MONDO:0014296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Warburg micro syndrome 4","equivalent_identifiers":["MONDO:0014296","DOID:0110719","OMIM:615663","UMLS:C3810265","medgen:816595"],"information_content":100.0}
{"id":"MONDO:0014297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 22","equivalent_identifiers":["MONDO:0014297","DOID:0110991","OMIM:615665","UMLS:C3810278","medgen:816608"],"information_content":100.0}
{"id":"MONDO:0014298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 5q12 deletion syndrome","equivalent_identifiers":["MONDO:0014298","DOID:0060421","OMIM:615668","orphanet:439822","UMLS:C3810282","medgen:816612"],"information_content":100.0}
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{"id":"MONDO:0014374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 18","equivalent_identifiers":["MONDO:0014374","DOID:0111125","OMIM:615862","UMLS:C3890591","medgen:855697"],"information_content":100.0}
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{"id":"MONDO:0014381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholestasis, progressive familial intrahepatic, 4","equivalent_identifiers":["MONDO:0014381","DOID:0070224","OMIM:615878","orphanet:480483","UMLS:C2931067","SNOMEDCT:1295517006","medgen:418976"],"information_content":100.0}
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{"id":"MONDO:0014384","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis 12","equivalent_identifiers":["MONDO:0014384","DOID:0110709","OMIM:615885","UMLS:C4014563","medgen:863000"],"information_content":100.0}
{"id":"MONDO:0014385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta hypomaturation type 2A5","equivalent_identifiers":["MONDO:0014385","DOID:0110063","OMIM:615887","UMLS:C4014578","medgen:863015"],"information_content":100.0}
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{"id":"MONDO:0014387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy, progressive, with ovarian failure","equivalent_identifiers":["MONDO:0014387","DOID:0070396","OMIM:615889","UMLS:C4014588","medgen:863025"],"information_content":100.0}
{"id":"MONDO:0014388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial median cleft of the upper and lower lips","equivalent_identifiers":["MONDO:0014388","DOID:0080407","OMIM:615892","orphanet:401942","UMLS:C4014596","medgen:863033"],"information_content":100.0}
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{"id":"MONDO:0014394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 13","inheritance":"Typified by incomplete penetrance","equivalent_identifiers":["MONDO:0014394","DOID:0111889","OMIM:615909","UMLS:C4014641","medgen:863078"],"information_content":100.0}
{"id":"MONDO:0014395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontotemporal dementia and/or amyotrophic lateral sclerosis 2","equivalent_identifiers":["MONDO:0014395","DOID:0060214","OMIM:615911","UMLS:C4014648","medgen:863085"],"information_content":100.0}
{"id":"MONDO:0014396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dilated cardiomyopathy 1NN","equivalent_identifiers":["MONDO:0014396","DOID:0110432","OMIM:615916","UMLS:C4014656","medgen:863093"],"information_content":100.0}
{"id":"MONDO:0014397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 20","equivalent_identifiers":["MONDO:0014397","DOID:0111478","OMIM:615917","orphanet:420728","UMLS:C4014660","medgen:863097"],"information_content":100.0}
{"id":"MONDO:0014398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 21","equivalent_identifiers":["MONDO:0014398","DOID:0111465","OMIM:615918","orphanet:420733","EFO:0009032","UMLS:C4706316","SNOMEDCT:763211004","medgen:1638633"],"information_content":100.0}
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{"id":"MONDO:0014400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 70","equivalent_identifiers":["MONDO:0014400","DOID:0110392","OMIM:615922","UMLS:C4014681","medgen:863118"],"information_content":100.0}
{"id":"MONDO:0014401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tall stature-scoliosis-macrodactyly of the great toes syndrome","equivalent_identifiers":["MONDO:0014401","DOID:0070316","OMIM:615923","orphanet:329191","UMLS:C4014690","medgen:863127"],"information_content":100.0}
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{"id":"MONDO:0014405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"STING-associated vasculopathy with onset in infancy","equivalent_identifiers":["MONDO:0014405","DOID:0111457","OMIM:615934","orphanet:425120","UMLS:C4014722","MEDDRA:10088833","MEDDRA:10088872","NCIT:C177547","SNOMEDCT:711164003","medgen:863159"],"information_content":100.0}
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{"id":"MONDO:0014414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"STAT3-related early-onset multisystem autoimmune disease","equivalent_identifiers":["MONDO:0014414","OMIM:615952","orphanet:438159","UMLS:C4014795","NCIT:C157123","SNOMEDCT:1197362009","medgen:863232"],"information_content":100.0}
{"id":"MONDO:0014415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kallikrein, decreased urinary activity of","equivalent_identifiers":["MONDO:0014415","OMIM:615953","UMLS:C1835808","MESH:C563653","medgen:322759"],"information_content":100.0}
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{"id":"MONDO:0014421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucocorticoid resistance","equivalent_identifiers":["MONDO:0014421","OMIM:615962","orphanet:786","UMLS:C1841972","MESH:C564221","NCIT:C126809","medgen:333960","icd11.foundation:125216923"],"information_content":100.0}
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{"id":"MONDO:0014423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency due to DNA-PKcs deficiency","equivalent_identifiers":["MONDO:0014423","DOID:0111961","OMIM:615966","orphanet:317425","UMLS:C4014833","UMLS:C4274221","NCIT:C176795","SNOMEDCT:716871006","medgen:863270"],"information_content":100.0}
{"id":"MONDO:0014426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nanophthalmos 4","equivalent_identifiers":["MONDO:0014426","OMIM:615972","UMLS:C4014848","medgen:863285"],"information_content":100.0}
{"id":"MONDO:0014427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 20","equivalent_identifiers":["MONDO:0014427","DOID:0111026","OMIM:615973","UMLS:C4014856","medgen:863293"],"information_content":100.0}
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{"id":"MONDO:0014437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 9","equivalent_identifiers":["MONDO:0014437","DOID:0110131","OMIM:615986","EFO:0009027","UMLS:C1859567","MESH:C565918","medgen:347182"],"information_content":100.0}
{"id":"MONDO:0014438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 10","equivalent_identifiers":["MONDO:0014438","DOID:0110132","OMIM:615987","EFO:0009022","UMLS:C1859568","MESH:C565919","medgen:347909"],"information_content":100.0}
{"id":"MONDO:0014439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 11","equivalent_identifiers":["MONDO:0014439","DOID:0110133","OMIM:615988","UMLS:C1859569","MESH:C565920","medgen:395295"],"information_content":100.0}
{"id":"MONDO:0014440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 12","equivalent_identifiers":["MONDO:0014440","DOID:0110134","OMIM:615989","EFO:0009023","UMLS:C1859570","MESH:C565921","medgen:347910"],"information_content":100.0}
{"id":"MONDO:0014441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 13","equivalent_identifiers":["MONDO:0014441","DOID:0110135","OMIM:615990","UMLS:C2673873","MESH:C567140","medgen:393032"],"information_content":100.0}
{"id":"MONDO:0014442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 14","equivalent_identifiers":["MONDO:0014442","DOID:0110136","OMIM:615991","UMLS:C2673874","MESH:C567141","medgen:393033"],"information_content":100.0}
{"id":"MONDO:0014443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 15","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0014443","DOID:0110137","OMIM:615992","UMLS:C3150127","medgen:461477"],"information_content":100.0}
{"id":"MONDO:0014444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 16","equivalent_identifiers":["MONDO:0014444","DOID:0110138","OMIM:615993","UMLS:C3889474","medgen:855172"],"information_content":100.0}
{"id":"MONDO:0014445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 17","equivalent_identifiers":["MONDO:0014445","DOID:0110139","OMIM:615994","UMLS:C3714980","medgen:811538"],"information_content":100.0}
{"id":"MONDO:0014446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 18","equivalent_identifiers":["MONDO:0014446","DOID:0110140","OMIM:615995","UMLS:C3806174","medgen:812504"],"information_content":100.0}
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{"id":"MONDO:0014448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperthyroxinemia, familial dysalbuminemic","equivalent_identifiers":["MONDO:0014448","OMIM:615999","UMLS:C0342185","UMLS:C5543652","MESH:D050010","NCIT:C131813","SNOMEDCT:237547004","medgen:90974"],"information_content":100.0}
{"id":"MONDO:0014449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Analbuminemia","equivalent_identifiers":["MONDO:0014449","OMIM:616000","orphanet:86816","UMLS:C0878666","UMLS:C4305253","NCIT:C124851","SNOMEDCT:129232009","SNOMEDCT:718721006","medgen:930922"],"information_content":100.0}
{"id":"MONDO:0014450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breasts and/or nipples, aplasia or hypoplasia of, 2","equivalent_identifiers":["MONDO:0014450","OMIM:616001","UMLS:C4014918","medgen:863355"],"information_content":100.0}
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{"id":"MONDO:0014452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial dysfibrinogenemia","equivalent_identifiers":["MONDO:0014452","OMIM:616004","orphanet:98881","UMLS:C0272350","UMLS:C1260903","MESH:C562727","MEDDRA:10051123","MEDDRA:10054362","NCIT:C131659","SNOMEDCT:111589005","SNOMEDCT:45366001","medgen:82901","HP:0011901"],"information_content":87.2}
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{"id":"MONDO:0014454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hennekam lymphangiectasia-lymphedema syndrome 2","equivalent_identifiers":["MONDO:0014454","OMIM:616006","UMLS:C4014939","medgen:863376"],"information_content":100.0}
{"id":"MONDO:0014455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome","equivalent_identifiers":["MONDO:0014455","OMIM:616007","orphanet:436174","UMLS:C4014942","SNOMEDCT:1220595008","medgen:863379"],"information_content":100.0}
{"id":"MONDO:0014456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive severe congenital neutropenia due to JAGN1 deficiency","equivalent_identifiers":["MONDO:0014456","DOID:0112134","OMIM:616022","orphanet:423384","UMLS:C4014954","NCIT:C176602","medgen:863391"],"information_content":100.0}
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{"id":"MONDO:0014458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young","equivalent_identifiers":["MONDO:0014458","DOID:0080760","OMIM:616026","UMLS:C4014962","medgen:863399"],"information_content":100.0}
{"id":"MONDO:0014459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adams-Oliver syndrome 5","equivalent_identifiers":["MONDO:0014459","OMIM:616028","UMLS:C4014970","medgen:863407"],"information_content":100.0}
{"id":"MONDO:0014460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome","equivalent_identifiers":["MONDO:0014460","OMIM:616029","orphanet:423454","UMLS:C4014987","SNOMEDCT:764995008","medgen:863424"],"information_content":100.0}
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{"id":"MONDO:0014464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive encephalopathy with leukodystrophy due to DECR deficiency","equivalent_identifiers":["MONDO:0014464","OMIM:616034","orphanet:431361","UMLS:C1857252","MESH:C565624","SNOMEDCT:444944006","medgen:346552"],"information_content":100.0}
{"id":"MONDO:0014465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 30","equivalent_identifiers":["MONDO:0014465","DOID:0110624","OMIM:616037","UMLS:C4015016","medgen:863453"],"information_content":100.0}
{"id":"MONDO:0014466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neu-Laxova syndrome 2","equivalent_identifiers":["MONDO:0014466","DOID:0080075","OMIM:616038","orphanet:583602","UMLS:C4015019","medgen:863456"],"information_content":100.0}
{"id":"MONDO:0014467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease recessive intermediate D","equivalent_identifiers":["MONDO:0014467","DOID:0110203","OMIM:616039","orphanet:435998","UMLS:C5569027","SNOMEDCT:1187567002","medgen:1800450"],"information_content":100.0}
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{"id":"MONDO:0014469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 103","equivalent_identifiers":["MONDO:0014469","DOID:0110464","OMIM:616042","UMLS:C4015050","medgen:863487"],"information_content":100.0}
{"id":"MONDO:0014470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 65","equivalent_identifiers":["MONDO:0014470","DOID:0110586","OMIM:616044","UMLS:C3892048","medgen:856147"],"information_content":100.0}
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{"id":"MONDO:0014472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periodic fever-infantile enterocolitis-autoinflammatory syndrome","equivalent_identifiers":["MONDO:0014472","OMIM:616050","orphanet:436166","UMLS:C4015067","MEDDRA:10084306","SNOMEDCT:1197594000","medgen:863504"],"information_content":100.0}
{"id":"MONDO:0014473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 13, primary, autosomal recessive","equivalent_identifiers":["MONDO:0014473","DOID:0070283","OMIM:616051","UMLS:C4015080","medgen:863517"],"information_content":100.0}
{"id":"MONDO:0014474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2U","equivalent_identifiers":["MONDO:0014474","DOID:0110295","OMIM:616052","orphanet:352479","UMLS:C5190987","SNOMEDCT:783554002","medgen:1683417"],"information_content":100.0}
{"id":"MONDO:0014475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 40","equivalent_identifiers":["MONDO:0014475","DOID:0050986","OMIM:616053","orphanet:423275","EFO:0009057","UMLS:C4518336","SNOMEDCT:734020000","medgen:1385103"],"information_content":100.0}
{"id":"MONDO:0014476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic ataxia type 8","equivalent_identifiers":["MONDO:0014476","DOID:0050996","OMIM:616055","orphanet:401953","UMLS:C4015108","SNOMEDCT:773495009","medgen:863545"],"information_content":100.0}
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{"id":"MONDO:0014478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mirror movements 3","equivalent_identifiers":["MONDO:0014478","OMIM:616059","UMLS:C4015124","medgen:863561"],"information_content":100.0}
{"id":"MONDO:0014479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis 8, disseminated superficial actinic type","equivalent_identifiers":["MONDO:0014479","OMIM:616063","UMLS:C4015128","medgen:863565"],"information_content":100.0}
{"id":"MONDO:0014480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 9","equivalent_identifiers":["MONDO:0014480","DOID:0111770","OMIM:616067","UMLS:C4015129","medgen:863566"],"information_content":100.0}
{"id":"MONDO:0014481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory skin and bowel disease, neonatal, 2","equivalent_identifiers":["MONDO:0014481","OMIM:616069","UMLS:C4015130","medgen:863567"],"information_content":100.0}
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{"id":"MONDO:0014483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies","equivalent_identifiers":["MONDO:0014483","OMIM:616079","orphanet:397758","UMLS:C4015146","NCIT:C168587","medgen:863583"],"information_content":100.0}
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{"id":"MONDO:0014489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limb-girdle muscular dystrophy due to POMK deficiency","equivalent_identifiers":["MONDO:0014489","DOID:0112381","OMIM:616094","orphanet:445110","UMLS:C4015184","SNOMEDCT:1234819007","medgen:863621"],"information_content":100.0}
{"id":"MONDO:0014490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ketoacidosis due to monocarboxylate transporter-1 deficiency","equivalent_identifiers":["MONDO:0014490","OMIM:616095","orphanet:438075","UMLS:C4015186","SNOMEDCT:1216941002","medgen:863623"],"information_content":100.0}
{"id":"MONDO:0014491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 37","equivalent_identifiers":["MONDO:0014491","DOID:0111939","OMIM:616098","UMLS:C4015195","medgen:863632"],"information_content":100.0}
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{"id":"MONDO:0014496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex III deficiency nuclear type 9","equivalent_identifiers":["MONDO:0014496","DOID:0080118","OMIM:616111","UMLS:C4015253","medgen:863690"],"information_content":100.0}
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{"id":"MONDO:0014501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular degeneration, early-onset","equivalent_identifiers":["MONDO:0014501","OMIM:616118","UMLS:C4015286","medgen:863723"],"information_content":100.0}
{"id":"MONDO:0014502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency","equivalent_identifiers":["MONDO:0014502","DOID:0111934","OMIM:616126","orphanet:319563","UMLS:C4015293","medgen:863730"],"information_content":100.0}
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{"id":"MONDO:0014513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nemaline myopathy 10","equivalent_identifiers":["MONDO:0014513","DOID:0110931","OMIM:616165","UMLS:C4015360","medgen:863797"],"information_content":100.0}
{"id":"MONDO:0014514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm, familial thoracic 9","equivalent_identifiers":["MONDO:0014514","OMIM:616166","UMLS:C4015368","medgen:863805"],"information_content":100.0}
{"id":"MONDO:0014515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular dystrophy with central cone involvement","equivalent_identifiers":["MONDO:0014515","OMIM:616170","UMLS:C4015371","medgen:863808"],"information_content":100.0}
{"id":"MONDO:0014516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly and chorioretinopathy 2","equivalent_identifiers":["MONDO:0014516","DOID:0080106","OMIM:616171","UMLS:C4015388","medgen:863825"],"information_content":100.0}
{"id":"MONDO:0014517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized epilepsy with febrile seizures plus, type 9","equivalent_identifiers":["MONDO:0014517","DOID:0111301","OMIM:616172","UMLS:C4015395","NCIT:C192201","medgen:863832"],"information_content":100.0}
{"id":"MONDO:0014518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 19","equivalent_identifiers":["MONDO:0014518","DOID:0111048","OMIM:616176","orphanet:438207","UMLS:C4015405","medgen:863842"],"information_content":100.0}
{"id":"MONDO:0014520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XX ovarian dysgenesis-short stature syndrome","equivalent_identifiers":["MONDO:0014520","DOID:0080496","OMIM:616185","orphanet:444048","UMLS:C4015409","SNOMEDCT:1237345002","medgen:863846"],"information_content":100.0}
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{"id":"MONDO:0014522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal dystrophy and obesity","equivalent_identifiers":["MONDO:0014522","OMIM:616188","UMLS:C4015424","medgen:863861"],"information_content":100.0}
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{"id":"MONDO:0014540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 1H","equivalent_identifiers":["MONDO:0014540","DOID:0110064","OMIM:616221","UMLS:C4015557","medgen:863994"],"information_content":100.0}
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{"id":"MONDO:0014550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 15","equivalent_identifiers":["MONDO:0014550","DOID:0110656","OMIM:616249","UMLS:C4015695","medgen:864132"],"information_content":100.0}
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{"id":"MONDO:0014557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia - oculomotor apraxia type 4","equivalent_identifiers":["MONDO:0014557","DOID:0081383","OMIM:616267","orphanet:459033","EFO:0009016","UMLS:C4225397","medgen:902323"],"information_content":100.0}
{"id":"MONDO:0014558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome","equivalent_identifiers":["MONDO:0014558","DOID:0070062","OMIM:616268","orphanet:457193","UMLS:C4225396","SNOMEDCT:1255319004","medgen:903767"],"information_content":100.0}
{"id":"MONDO:0014559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome","equivalent_identifiers":["MONDO:0014559","DOID:0081212","OMIM:616269","orphanet:457212","UMLS:C4225395","SNOMEDCT:1260130005","medgen:895952"],"information_content":100.0}
{"id":"MONDO:0014560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 1F","equivalent_identifiers":["MONDO:0014560","DOID:0110065","OMIM:616270","UMLS:C4225394","medgen:898597"],"information_content":100.0}
{"id":"MONDO:0014561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria, type VIIB","equivalent_identifiers":["MONDO:0014561","DOID:0081134","DOID:0110003","OMIM:616271","orphanet:445038","EFO:0009014","UMLS:C4225393","UMLS:C5676893","SNOMEDCT:764860006","medgen:1810214"],"information_content":100.0}
{"id":"MONDO:0014562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome","equivalent_identifiers":["MONDO:0014562","DOID:0070244","OMIM:616276","orphanet:457185","UMLS:C5568562","SNOMEDCT:1186718008","medgen:1799985"],"information_content":100.0}
{"id":"MONDO:0014563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency","equivalent_identifiers":["MONDO:0014563","DOID:0070540","OMIM:616277","orphanet:653880","UMLS:C4225391","NCIT:C174218","medgen:902729"],"information_content":100.0}
{"id":"MONDO:0014564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bile acid synthesis defect 5","equivalent_identifiers":["MONDO:0014564","DOID:0111066","OMIM:616278","UMLS:C4225390","medgen:904751"],"information_content":100.0}
{"id":"MONDO:0014565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 43","equivalent_identifiers":["MONDO:0014565","DOID:0110259","OMIM:616279","UMLS:C4225389","medgen:901691"],"information_content":100.0}
{"id":"MONDO:0014566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2U","equivalent_identifiers":["MONDO:0014566","DOID:0110173","OMIM:616280","orphanet:397735","UMLS:C4084821","SNOMEDCT:765046002","medgen:906504"],"information_content":100.0}
{"id":"MONDO:0014567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glutamate pyruvate transaminase 2 deficiency","equivalent_identifiers":["MONDO:0014567","DOID:0070542","OMIM:616281","orphanet:477673","UMLS:C4225388","UMLS:C5567787","SNOMEDCT:1173998003","medgen:906606"],"information_content":100.0}
{"id":"MONDO:0014568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 73","equivalent_identifiers":["MONDO:0014568","DOID:0110818","OMIM:616282","orphanet:444099","UMLS:C5568981","SNOMEDCT:1187468005","medgen:1800404"],"information_content":100.0}
{"id":"MONDO:0014569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal congenital contracture syndrome 7","equivalent_identifiers":["MONDO:0014569","OMIM:616286","UMLS:C4225386","medgen:894160"],"information_content":100.0}
{"id":"MONDO:0014570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal congenital contracture syndrome 8","equivalent_identifiers":["MONDO:0014570","OMIM:616287","UMLS:C4225385","medgen:896058"],"information_content":100.0}
{"id":"MONDO:0014571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 9","equivalent_identifiers":["MONDO:0014571","DOID:0111442","OMIM:616289","UMLS:C4225384","medgen:898858"],"information_content":100.0}
{"id":"MONDO:0014572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lichtenstein-Knorr syndrome","equivalent_identifiers":["MONDO:0014572","DOID:0080065","OMIM:616291","orphanet:448251","UMLS:C4225383","SNOMEDCT:1237413006","medgen:898996"],"information_content":100.0}
{"id":"MONDO:0014573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cole-Carpenter syndrome 2","equivalent_identifiers":["MONDO:0014573","OMIM:616294","UMLS:C4225382","medgen:905199"],"information_content":100.0}
{"id":"MONDO:0014574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PLACK syndrome","equivalent_identifiers":["MONDO:0014574","DOID:0070526","OMIM:616295","orphanet:444138","UMLS:C4225381","SNOMEDCT:1237509001","medgen:902464"],"information_content":100.0}
{"id":"MONDO:0014575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Singleton-Merten syndrome 2","equivalent_identifiers":["MONDO:0014575","OMIM:616298","UMLS:C4225380","medgen:907372"],"information_content":100.0}
{"id":"MONDO:0014576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoyl transferase 1 deficiency","equivalent_identifiers":["MONDO:0014576","OMIM:616299","orphanet:401862","UMLS:C4225379","medgen:904073"],"information_content":100.0}
{"id":"MONDO:0014577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 13 with or without polydactyly","equivalent_identifiers":["MONDO:0014577","DOID:0110093","OMIM:616300","UMLS:C4225378","medgen:898712"],"information_content":100.0}
{"id":"MONDO:0014578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 17","equivalent_identifiers":["MONDO:0014578","DOID:0110674","OMIM:616304","UMLS:C4225377","medgen:895078"],"information_content":100.0}
{"id":"MONDO:0014579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Loken syndrome 8","equivalent_identifiers":["MONDO:0014579","OMIM:616307","UMLS:C4225376","medgen:905171"],"information_content":100.0}
{"id":"MONDO:0014580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 33","equivalent_identifiers":["MONDO:0014580","DOID:0070063","OMIM:616311","UMLS:C4225375","medgen:899389"],"information_content":100.0}
{"id":"MONDO:0014581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 2A","equivalent_identifiers":["MONDO:0014581","DOID:0110681","OMIM:616313","UMLS:C4225374","medgen:908185"],"information_content":100.0}
{"id":"MONDO:0014582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 2C","equivalent_identifiers":["MONDO:0014582","DOID:0110680","OMIM:616314","UMLS:C4225373","medgen:903254"],"information_content":100.0}
{"id":"MONDO:0014583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 3A","equivalent_identifiers":["MONDO:0014583","DOID:0110666","OMIM:616321","UMLS:C4225372","medgen:898378"],"information_content":100.0}
{"id":"MONDO:0014584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 3B","equivalent_identifiers":["MONDO:0014584","DOID:0110665","OMIM:616322","UMLS:C4225371","medgen:909404"],"information_content":100.0}
{"id":"MONDO:0014585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 3C","equivalent_identifiers":["MONDO:0014585","DOID:0110664","OMIM:616323","UMLS:C4225370","medgen:903088"],"information_content":100.0}
{"id":"MONDO:0014586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 4B","equivalent_identifiers":["MONDO:0014586","DOID:0110677","OMIM:616324","UMLS:C4225369","medgen:904424"],"information_content":100.0}
{"id":"MONDO:0014587","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 9","equivalent_identifiers":["MONDO:0014587","DOID:0110670","OMIM:616325","UMLS:C4225368","medgen:895641"],"information_content":100.0}
{"id":"MONDO:0014588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 11","equivalent_identifiers":["MONDO:0014588","DOID:0110675","OMIM:616326","UMLS:C1837094","UMLS:C4225367","MESH:C563831","NCIT:C177546","medgen:902189"],"information_content":100.0}
{"id":"MONDO:0014589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young type 13","equivalent_identifiers":["MONDO:0014589","DOID:0111110","OMIM:616329","UMLS:C4225365","medgen:897640"],"information_content":100.0}
{"id":"MONDO:0014590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 18","equivalent_identifiers":["MONDO:0014590","DOID:0110683","OMIM:616330","UMLS:C4225364","medgen:906793"],"information_content":100.0}
{"id":"MONDO:0014591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Robinow syndrome 2","equivalent_identifiers":["MONDO:0014591","DOID:0060765","OMIM:616331","UMLS:C4225363","medgen:897039"],"information_content":100.0}
{"id":"MONDO:0014592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly and chorioretinopathy 3","equivalent_identifiers":["MONDO:0014592","DOID:0080107","OMIM:616335","UMLS:C4225362","medgen:902924"],"information_content":100.0}
{"id":"MONDO:0014593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 29","equivalent_identifiers":["MONDO:0014593","DOID:0080451","OMIM:616339","UMLS:C4225361","medgen:908570"],"information_content":100.0}
{"id":"MONDO:0014594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 67","equivalent_identifiers":["MONDO:0014594","DOID:0110588","OMIM:616340","UMLS:C4084712","medgen:900413"],"information_content":100.0}
{"id":"MONDO:0014595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 30","equivalent_identifiers":["MONDO:0014595","DOID:0080465","OMIM:616341","UMLS:C4225360","medgen:898954"],"information_content":100.0}
{"id":"MONDO:0014596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly 7 with cerebellar hypoplasia","equivalent_identifiers":["MONDO:0014596","DOID:0112231","OMIM:616342","UMLS:C4225359","medgen:895680"],"information_content":100.0}
{"id":"MONDO:0014597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 39","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0014597","DOID:0111969","OMIM:616345","orphanet:574918","UMLS:C4225358","SNOMEDCT:1269234000","medgen:904167"],"information_content":100.0}
{"id":"MONDO:0014598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 31A","equivalent_identifiers":["MONDO:0014598","DOID:0080437","OMIM:616346","UMLS:C4225357","NCIT:C185237","medgen:894942"],"information_content":100.0}
{"id":"MONDO:0014599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 34","equivalent_identifiers":["MONDO:0014599","DOID:0070064","OMIM:616351","UMLS:C4225156","medgen:907277"],"information_content":100.0}
{"id":"MONDO:0014601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spinocerebellar ataxia 20","equivalent_identifiers":["MONDO:0014601","DOID:0080066","OMIM:616354","orphanet:397709","UMLS:C5190595","SNOMEDCT:782753000","medgen:1684324"],"information_content":100.0}
{"id":"MONDO:0014602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hogue-Janssens syndrome 1","equivalent_identifiers":["MONDO:0014602","DOID:0070065","OMIM:616355","orphanet:457279","UMLS:C5779996","medgen:1830493"],"information_content":100.0}
{"id":"MONDO:0014603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 40","equivalent_identifiers":["MONDO:0014603","DOID:0110566","OMIM:616357","UMLS:C4084708","medgen:896665"],"information_content":100.0}
{"id":"MONDO:0014604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 21","equivalent_identifiers":["MONDO:0014604","DOID:0111251","OMIM:616361","UMLS:C4225353","medgen:903105"],"information_content":100.0}
{"id":"MONDO:0014605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Houge-Janssens syndrome 2","equivalent_identifiers":["MONDO:0014605","DOID:0070066","OMIM:616362","orphanet:457284","UMLS:C4225352","SNOMEDCT:1254650002","medgen:899880"],"information_content":100.0}
{"id":"MONDO:0014606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome","equivalent_identifiers":["MONDO:0014606","DOID:0070067","OMIM:616364","orphanet:468678","EFO:0009079","UMLS:C4225351","SNOMEDCT:772127009","medgen:897984"],"information_content":100.0}
{"id":"MONDO:0014607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 32","equivalent_identifiers":["MONDO:0014607","DOID:0080416","OMIM:616366","UMLS:C4225350","NCIT:C155998","medgen:909501"],"information_content":100.0}
{"id":"MONDO:0014608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibulofacial dysostosis with alopecia","equivalent_identifiers":["MONDO:0014608","DOID:0060365","OMIM:616367","orphanet:443995","UMLS:C4225349","SNOMEDCT:1216943004","medgen:898794"],"information_content":100.0}
{"id":"MONDO:0014609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CHOPS SYNDROME","equivalent_identifiers":["MONDO:0014609","OMIM:616368","orphanet:444077","EFO:0009031","UMLS:C4085597","SNOMEDCT:764455002","medgen:894554"],"information_content":100.0}
{"id":"MONDO:0014611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple mitochondrial dysfunctions syndrome 4","equivalent_identifiers":["MONDO:0014611","DOID:0080136","OMIM:616370","orphanet:457406","UMLS:C4225348","SNOMEDCT:1208621008","medgen:899010"],"information_content":100.0}
{"id":"MONDO:0014612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4","equivalent_identifiers":["MONDO:0014612","OMIM:616371","UMLS:C4225347","medgen:903928"],"information_content":100.0}
{"id":"MONDO:0014614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness 1G","equivalent_identifiers":["MONDO:0014614","DOID:0110714","OMIM:616389","UMLS:C4225345","medgen:906532"],"information_content":100.0}
{"id":"MONDO:0014615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichothiodystrophy 2, photosensitive","equivalent_identifiers":["MONDO:0014615","DOID:0111869","OMIM:616390","UMLS:C4225344","NCIT:C173103","medgen:905904"],"information_content":100.0}
{"id":"MONDO:0014617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 38","equivalent_identifiers":["MONDO:0014617","DOID:0070068","OMIM:616393","UMLS:C4225343","medgen:895359"],"information_content":100.0}
{"id":"MONDO:0014618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 71","equivalent_identifiers":["MONDO:0014618","DOID:0110363","OMIM:616394","UMLS:C4225342","medgen:897209"],"information_content":100.0}
{"id":"MONDO:0014619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichothiodystrophy 3, photosensitive","equivalent_identifiers":["MONDO:0014619","DOID:0111871","OMIM:616395","UMLS:C4017171","NCIT:C173099","medgen:865608"],"information_content":100.0}
{"id":"MONDO:0014620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonic dystonia 26","equivalent_identifiers":["MONDO:0014620","DOID:0090036","OMIM:616398","UMLS:C4225341","medgen:904244"],"information_content":100.0}
{"id":"MONDO:0014621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome 9","equivalent_identifiers":["MONDO:0014621","DOID:0110226","OMIM:616399","UMLS:C4225340","medgen:903155"],"information_content":100.0}
{"id":"MONDO:0014622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated focal non-epidermolytic palmoplantar keratoderma","equivalent_identifiers":["MONDO:0014622","DOID:0111708","DOID:0111711","OMIM:616400","orphanet:448264","UMLS:C4225339","medgen:895056"],"information_content":100.0}
{"id":"MONDO:0014623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 14, primary, autosomal recessive","equivalent_identifiers":["MONDO:0014623","DOID:0070279","OMIM:616402","UMLS:C4225338","medgen:906798"],"information_content":100.0}
{"id":"MONDO:0014624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brown syndrome","equivalent_identifiers":["MONDO:0014624","DOID:10235","OMIM:616407","UMLS:C0155339","MEDDRA:10006490","SNOMEDCT:35929003","medgen:102332","ICD10:H50.61","ICD9:378.61","HP:0031622"],"information_content":100.0}
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{"id":"MONDO:0014626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 41","equivalent_identifiers":["MONDO:0014626","DOID:0111744","OMIM:616410","orphanet:458798","EFO:0009058","UMLS:C4225158","SNOMEDCT:1208512000","medgen:908281"],"information_content":100.0}
{"id":"MONDO:0014627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 27","equivalent_identifiers":["MONDO:0014627","DOID:0090050","OMIM:616411","orphanet:464440","UMLS:C4225336","SNOMEDCT:1220573009","medgen:907580"],"information_content":100.0}
{"id":"MONDO:0014628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"basal ganglia calcification, idiopathic, 6","equivalent_identifiers":["MONDO:0014628","OMIM:616413","UMLS:C4225335","medgen:901404"],"information_content":100.0}
{"id":"MONDO:0014629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune interstitial lung disease-arthritis syndrome","equivalent_identifiers":["MONDO:0014629","DOID:0081242","OMIM:616414","orphanet:444092","UMLS:C5243948","UMLS:C5975714","MEDDRA:10083948","SNOMEDCT:1222679006","medgen:1800821"],"information_content":100.0}
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{"id":"MONDO:0014634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 10","equivalent_identifiers":["MONDO:0014634","DOID:0111775","OMIM:616425","UMLS:C4225331","medgen:897538"],"information_content":100.0}
{"id":"MONDO:0014635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, isolated, with coloboma 10","equivalent_identifiers":["MONDO:0014635","OMIM:616428","UMLS:C4225330","medgen:909133"],"information_content":100.0}
{"id":"MONDO:0014636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 25","equivalent_identifiers":["MONDO:0014636","DOID:0111468","OMIM:616430","orphanet:447954","UMLS:C5567742","SNOMEDCT:1173035001","medgen:1799165"],"information_content":100.0}
{"id":"MONDO:0014637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DOCK2 deficiency","equivalent_identifiers":["MONDO:0014637","DOID:0111951","OMIM:616433","orphanet:447737","UMLS:C4225328","NCIT:C176799","SNOMEDCT:1197479002","medgen:901370"],"information_content":100.0}
{"id":"MONDO:0014638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group T","equivalent_identifiers":["MONDO:0014638","DOID:0111081","OMIM:616435","UMLS:C4084840","medgen:896157"],"information_content":100.0}
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{"id":"MONDO:0014640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontotemporal dementia and/or amyotrophic lateral sclerosis 3","equivalent_identifiers":["MONDO:0014640","DOID:0110068","OMIM:616437","UMLS:C4225326","medgen:897127"],"information_content":100.0}
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{"id":"MONDO:0014642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"candidiasis, familial, 9","equivalent_identifiers":["MONDO:0014642","OMIM:616445","UMLS:C4225324","medgen:906897"],"information_content":100.0}
{"id":"MONDO:0014643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome","equivalent_identifiers":["MONDO:0014643","OMIM:616449","orphanet:464738","UMLS:C4225323","SNOMEDCT:1187644009","medgen:897292"],"information_content":100.0}
{"id":"MONDO:0014644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 74","equivalent_identifiers":["MONDO:0014644","DOID:0110819","OMIM:616451","orphanet:468661","UMLS:C5568837","SNOMEDCT:1187191003","medgen:1800260"],"information_content":100.0}
{"id":"MONDO:0014645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BENTA disease","equivalent_identifiers":["MONDO:0014645","OMIM:616452","orphanet:464336","UMLS:C4551967","NCIT:C176791","SNOMEDCT:1179300002","medgen:1641265"],"information_content":100.0}
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{"id":"MONDO:0014653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 72","equivalent_identifiers":["MONDO:0014653","DOID:0110395","OMIM:616469","UMLS:C4225315","medgen:895867"],"information_content":100.0}
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{"id":"MONDO:0014658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SADDAN","equivalent_identifiers":["MONDO:0014658","DOID:0111158","OMIM:616482","orphanet:85165","UMLS:C2674173","MEDDRA:10082394","SNOMEDCT:699870002","medgen:393098"],"information_content":100.0}
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{"id":"MONDO:0014662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital insensitivity to pain-hypohidrosis syndrome","equivalent_identifiers":["MONDO:0014662","DOID:0070153","OMIM:616488","orphanet:478664","UMLS:C4225308","SNOMEDCT:1172838005","medgen:894363"],"information_content":100.0}
{"id":"MONDO:0014663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Silver-Russell syndrome 3","equivalent_identifiers":["MONDO:0014663","OMIM:616489","UMLS:C4225307","medgen:894912"],"information_content":100.0}
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{"id":"MONDO:0014667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3","equivalent_identifiers":["MONDO:0014667","DOID:0080359","OMIM:616500","UMLS:C4225154","medgen:903495"],"information_content":100.0}
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{"id":"MONDO:0014671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary motor and sensory, type 6B","equivalent_identifiers":["MONDO:0014671","OMIM:616505","EFO:0009075","UMLS:C4225302","medgen:895482"],"information_content":100.0}
{"id":"MONDO:0014672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta type 17","equivalent_identifiers":["MONDO:0014672","DOID:0110338","OMIM:616507","UMLS:C4225301","medgen:903845"],"information_content":100.0}
{"id":"MONDO:0014673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 44","equivalent_identifiers":["MONDO:0014673","DOID:0110267","OMIM:616509","UMLS:C4225300","medgen:907487"],"information_content":100.0}
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{"id":"MONDO:0014677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achromatopsia 7","equivalent_identifiers":["MONDO:0014677","DOID:0110009","OMIM:616517","UMLS:C4225297","medgen:904646"],"information_content":100.0}
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{"id":"MONDO:0014691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 9","equivalent_identifiers":["MONDO:0014691","DOID:0060587","OMIM:616559","UMLS:C4225282","NCIT:C176937","medgen:896352"],"information_content":100.0}
{"id":"MONDO:0014692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 74","equivalent_identifiers":["MONDO:0014692","DOID:0110401","OMIM:616562","UMLS:C4225281","medgen:906896"],"information_content":100.0}
{"id":"MONDO:0014693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome 10","equivalent_identifiers":["MONDO:0014693","DOID:0060588","OMIM:616564","UMLS:C4225280","NCIT:C176938","medgen:902892"],"information_content":100.0}
{"id":"MONDO:0014694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocostal dysostosis 6, autosomal recessive","equivalent_identifiers":["MONDO:0014694","DOID:0112360","OMIM:616566","UMLS:C4225279","medgen:899713"],"information_content":100.0}
{"id":"MONDO:0014696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebrooculofacioskeletal syndrome 3","equivalent_identifiers":["MONDO:0014696","DOID:0080913","OMIM:616570","UMLS:C1851443","MESH:C565035","medgen:342008"],"information_content":100.0}
{"id":"MONDO:0014698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome","equivalent_identifiers":["MONDO:0014698","OMIM:616577","orphanet:457351","EFO:0009647","UMLS:C4225276","SNOMEDCT:1254651003","medgen:895574"],"information_content":100.0}
{"id":"MONDO:0014699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 40","equivalent_identifiers":["MONDO:0014699","DOID:0070070","OMIM:616579","UMLS:C5676894","medgen:1810363"],"information_content":100.0}
{"id":"MONDO:0014700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Au-Kline syndrome","equivalent_identifiers":["MONDO:0014700","OMIM:616580","orphanet:453504","UMLS:C1858043","UMLS:C4225274","MESH:C565736","SNOMEDCT:1222710008","SNOMEDCT:722065002","medgen:900671"],"information_content":100.0}
{"id":"MONDO:0014701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia, Stanescu type","equivalent_identifiers":["MONDO:0014701","DOID:0112281","OMIM:616583","orphanet:459051","UMLS:C4225273","SNOMEDCT:1228860003","medgen:905084"],"information_content":100.0}
{"id":"MONDO:0014702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive complex spastic paraplegia type 9B","equivalent_identifiers":["MONDO:0014702","DOID:0110825","OMIM:616586","orphanet:447760","UMLS:C5568980","SNOMEDCT:1187467000","medgen:1800403"],"information_content":100.0}
{"id":"MONDO:0014703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adams-Oliver syndrome 6","equivalent_identifiers":["MONDO:0014703","OMIM:616589","UMLS:C4225271","medgen:908556"],"information_content":100.0}
{"id":"MONDO:0014704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome","equivalent_identifiers":["MONDO:0014704","OMIM:616592","orphanet:477831","UMLS:C4225270","MEDDRA:10081313","SNOMEDCT:1172898008","medgen:896409"],"information_content":100.0}
{"id":"MONDO:0014705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis 6","equivalent_identifiers":["MONDO:0014705","DOID:0061008","OMIM:616602","orphanet:672985","UMLS:C4225269","medgen:904675"],"information_content":100.0}
{"id":"MONDO:0014706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa, autosomal dominant 3","equivalent_identifiers":["MONDO:0014706","DOID:0070131","OMIM:616603","UMLS:C4225268","medgen:899774"],"information_content":100.0}
{"id":"MONDO:0014707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"14q32 duplication syndrome","equivalent_identifiers":["MONDO:0014707","OMIM:616604","orphanet:488280","UMLS:C4225449","SNOMEDCT:1234830005","medgen:896239"],"information_content":100.0}
{"id":"MONDO:0014708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 14","equivalent_identifiers":["MONDO:0014708","DOID:0070621","OMIM:616606","orphanet:1440","UMLS:C2930916","MESH:C535487","NCIT:C185638","SNOMEDCT:702345009","medgen:419284"],"information_content":100.0}
{"id":"MONDO:0014710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency","equivalent_identifiers":["MONDO:0014710","DOID:0111940","OMIM:616622","orphanet:477857","UMLS:C5567647","SNOMEDCT:1172892009","medgen:1799070"],"information_content":100.0}
{"id":"MONDO:0014711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Charcot-Marie-Tooth disease type 2W","equivalent_identifiers":["MONDO:0014711","DOID:0110162","OMIM:616625","orphanet:488333","UMLS:C5567486","SNOMEDCT:1172634009","medgen:1798909"],"information_content":100.0}
{"id":"MONDO:0014712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Loken syndrome 9","equivalent_identifiers":["MONDO:0014712","OMIM:616629","UMLS:C4225263","medgen:899086"],"information_content":100.0}
{"id":"MONDO:0014713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis 9, multiple types","equivalent_identifiers":["MONDO:0014713","OMIM:616631","UMLS:C4225262","medgen:894586"],"information_content":100.0}
{"id":"MONDO:0014714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive microcephaly-seizures-cortical blindness-developmental delay syndrome","equivalent_identifiers":["MONDO:0014714","OMIM:616632","orphanet:477814","UMLS:C5567650","SNOMEDCT:1172900005","medgen:1799073"],"information_content":100.0}
{"id":"MONDO:0014715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection","equivalent_identifiers":["MONDO:0014715","DOID:0111975","OMIM:616636","orphanet:431166","UMLS:C4225260","medgen:904009"],"information_content":100.0}
{"id":"MONDO:0014716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome","equivalent_identifiers":["MONDO:0014716","OMIM:616638","orphanet:457485","EFO:0009050","UMLS:C4225259","SNOMEDCT:1187304005","medgen:899689"],"information_content":100.0}
{"id":"MONDO:0014717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset Lafora body disease","equivalent_identifiers":["MONDO:0014717","DOID:0111445","OMIM:616640","orphanet:324290","UMLS:C4225258","UMLS:C4518574","SNOMEDCT:733082001","medgen:907932"],"information_content":100.0}
{"id":"MONDO:0014718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 34","equivalent_identifiers":["MONDO:0014718","DOID:0080460","OMIM:616645","UMLS:C4225257","medgen:899149"],"information_content":100.0}
{"id":"MONDO:0014719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 35","equivalent_identifiers":["MONDO:0014719","DOID:0080458","OMIM:616647","orphanet:457375","UMLS:C4225256","SNOMEDCT:1208747005","medgen:904159"],"information_content":100.0}
{"id":"MONDO:0014720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant optic atrophy plus syndrome","equivalent_identifiers":["MONDO:0014720","DOID:0111340","orphanet:1215","SNOMEDCT:715374003","icd11.foundation:1149710475"],"information_content":89.4}
{"id":"MONDO:0014722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Roifman syndrome","equivalent_identifiers":["MONDO:0014722","OMIM:616651","orphanet:353298","UMLS:C1846059","MESH:C535866","SNOMEDCT:773404000","medgen:375801"],"information_content":100.0}
{"id":"MONDO:0014723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PMP22-RAI1 contiguous gene duplication syndrome","equivalent_identifiers":["MONDO:0014723","OMIM:616652","orphanet:477817","UMLS:C4225255","SNOMEDCT:1172899000","medgen:894862"],"information_content":100.0}
{"id":"MONDO:0014724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 24","equivalent_identifiers":["MONDO:0014724","DOID:0110993","OMIM:616654","UMLS:C4084841","medgen:905319"],"information_content":100.0}
{"id":"MONDO:0014725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome","equivalent_identifiers":["MONDO:0014725","DOID:0070537","OMIM:616657","orphanet:447997","UMLS:C4225254","SNOMEDCT:1237418002","medgen:900192"],"information_content":100.0}
{"id":"MONDO:0014726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2X","equivalent_identifiers":["MONDO:0014726","DOID:0110176","OMIM:616668","orphanet:466775","EFO:1001983","UMLS:C5569024","SNOMEDCT:1187563003","medgen:1800447"],"information_content":100.0}
{"id":"MONDO:0014727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 45","equivalent_identifiers":["MONDO:0014727","DOID:0111994","OMIM:616669","UMLS:C4225252","medgen:901044"],"information_content":100.0}
{"id":"MONDO:0014728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 27","equivalent_identifiers":["MONDO:0014728","DOID:0111489","OMIM:616672","orphanet:477774","EFO:0009037","UMLS:C5567608","NCIT:C185238","SNOMEDCT:1172844009","medgen:1799031"],"information_content":100.0}
{"id":"MONDO:0014729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 75","equivalent_identifiers":["MONDO:0014729","DOID:0110820","OMIM:616680","orphanet:459056","EFO:0009018","UMLS:C4225250","SNOMEDCT:1187470001","medgen:896387"],"information_content":100.0}
{"id":"MONDO:0014730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 16, primary, autosomal recessive","equivalent_identifiers":["MONDO:0014730","DOID:0070289","OMIM:616681","UMLS:C4225249","medgen:898705"],"information_content":100.0}
{"id":"MONDO:0014731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures-scoliosis-macrocephaly syndrome","equivalent_identifiers":["MONDO:0014731","OMIM:616682","orphanet:466926","UMLS:C4225248","SNOMEDCT:1187250005","medgen:909039"],"information_content":100.0}
{"id":"MONDO:0014732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelinating leukodystrophy 12","equivalent_identifiers":["MONDO:0014732","DOID:0060796","OMIM:616683","orphanet:466934","UMLS:C4225247","medgen:905068"],"information_content":100.0}
{"id":"MONDO:0014733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4K","equivalent_identifiers":["MONDO:0014733","DOID:0110187","OMIM:616684","orphanet:391351","UMLS:C4225246","SNOMEDCT:765047006","medgen:895560"],"information_content":100.0}
{"id":"MONDO:0014734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, idiopathic generalized, susceptibility to, 14","equivalent_identifiers":["MONDO:0014734","OMIM:616685","UMLS:C4225245","medgen:903934"],"information_content":100.0}
{"id":"MONDO:0014735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2Y","equivalent_identifiers":["MONDO:0014735","DOID:0110168","OMIM:616687","orphanet:435387","UMLS:C5569026","NCIT:C168974","SNOMEDCT:1187565005","medgen:1800449"],"information_content":100.0}
{"id":"MONDO:0014736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2Z","equivalent_identifiers":["MONDO:0014736","DOID:0110181","OMIM:616688","orphanet:466768","UMLS:C5569025","SNOMEDCT:1187564009","medgen:1800448"],"information_content":100.0}
{"id":"MONDO:0014737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dehydrated hereditary stomatocytosis 2","equivalent_identifiers":["MONDO:0014737","DOID:0111577","OMIM:616689","UMLS:C4225242","medgen:908701"],"information_content":100.0}
{"id":"MONDO:0014738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 69","equivalent_identifiers":["MONDO:0014738","DOID:0110590","OMIM:616697","UMLS:C4225241","medgen:905882"],"information_content":100.0}
{"id":"MONDO:0014739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 97","equivalent_identifiers":["MONDO:0014739","DOID:0110539","OMIM:616705","UMLS:C4084709","medgen:899875"],"information_content":100.0}
{"id":"MONDO:0014740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 68","equivalent_identifiers":["MONDO:0014740","DOID:0110589","OMIM:616707","UMLS:C4225240","medgen:898808"],"information_content":100.0}
{"id":"MONDO:0014741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DeSanto-Shinawi syndrome due to WAC point mutation","equivalent_identifiers":["MONDO:0014741","OMIM:616708","orphanet:466950","UMLS:C4225431","UMLS:C5681129","medgen:1841517"],"information_content":100.0}
{"id":"MONDO:0014742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 22, autosomal dominant","equivalent_identifiers":["MONDO:0014742","DOID:0080504","OMIM:616710","UMLS:C4225238","medgen:907886"],"information_content":100.0}
{"id":"MONDO:0014743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhizomelic chondrodysplasia punctata type 5","equivalent_identifiers":["MONDO:0014743","DOID:0110854","OMIM:616716","orphanet:468717","UMLS:C4225237","medgen:900333"],"information_content":100.0}
{"id":"MONDO:0014744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CALFAN Syndrome","equivalent_identifiers":["MONDO:0014744","DOID:0111155","OMIM:616719","orphanet:466794","UMLS:C5569084","NCIT:C159655","SNOMEDCT:1187643003","medgen:1800507"],"information_content":100.0}
{"id":"MONDO:0014745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 19","equivalent_identifiers":["MONDO:0014745","DOID:0110673","OMIM:616720","UMLS:C4225235","medgen:897962"],"information_content":100.0}
{"id":"MONDO:0014746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SLC39A8-CDG","equivalent_identifiers":["MONDO:0014746","DOID:0070266","OMIM:616721","orphanet:468699","UMLS:C4225234","SNOMEDCT:1187171005","medgen:899837"],"information_content":100.0}
{"id":"MONDO:0014747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome","equivalent_identifiers":["MONDO:0014747","OMIM:616722","orphanet:488197","UMLS:C4225493","medgen:903733"],"information_content":100.0}
{"id":"MONDO:0014748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome","equivalent_identifiers":["MONDO:0014748","OMIM:616723","orphanet:457395","UMLS:C5568882","SNOMEDCT:1187303004","medgen:1800305"],"information_content":100.0}
{"id":"MONDO:0014749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth agenesis, selective, 7","equivalent_identifiers":["MONDO:0014749","OMIM:616724","UMLS:C4225231","medgen:899184"],"information_content":100.0}
{"id":"MONDO:0014750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 33","equivalent_identifiers":["MONDO:0014750","DOID:0110619","OMIM:616726","UMLS:C4225230","medgen:898734"],"information_content":100.0}
{"id":"MONDO:0014751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome","equivalent_identifiers":["MONDO:0014751","OMIM:616728","orphanet:477993","UMLS:C4225229","medgen:895943"],"information_content":100.0}
{"id":"MONDO:0014752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 11","equivalent_identifiers":["MONDO:0014752","DOID:0080385","OMIM:616730","UMLS:C4225228","medgen:898622"],"information_content":100.0}
{"id":"MONDO:0014754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary coenzyme Q10 deficiency 8","equivalent_identifiers":["MONDO:0014754","DOID:0070245","OMIM:616733","UMLS:C4225226","medgen:908648"],"information_content":100.0}
{"id":"MONDO:0014755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin creases, congenital symmetric circumferential, 2","equivalent_identifiers":["MONDO:0014755","DOID:0112243","OMIM:616734","UMLS:C4225225","medgen:902880"],"information_content":100.0}
{"id":"MONDO:0014756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tremor, hereditary essential, 5","equivalent_identifiers":["MONDO:0014756","DOID:0111432","OMIM:616736","UMLS:C4225223","medgen:897748"],"information_content":100.0}
{"id":"MONDO:0014757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome","equivalent_identifiers":["MONDO:0014757","OMIM:616737","orphanet:487796","UMLS:C4225222","SNOMEDCT:1172685001","medgen:906646"],"information_content":100.0}
{"id":"MONDO:0014758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radioulnar synostosis with amegakaryocytic thrombocytopenia 2","equivalent_identifiers":["MONDO:0014758","OMIM:616738","UMLS:C4225221","medgen:901732"],"information_content":100.0}
{"id":"MONDO:0014759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 51","equivalent_identifiers":["MONDO:0014759","DOID:0081214","OMIM:616739","UMLS:C4225220","medgen:903243"],"information_content":100.0}
{"id":"MONDO:0014760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TFRC-related combined immunodeficiency","equivalent_identifiers":["MONDO:0014760","DOID:0111948","OMIM:616740","orphanet:476113","UMLS:C5568133","SNOMEDCT:1179288008","medgen:1799556"],"information_content":100.0}
{"id":"MONDO:0014762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterotaxy, visceral, 7, autosomal","equivalent_identifiers":["MONDO:0014762","DOID:0051021","OMIM:616749","UMLS:C4225217","medgen:902629"],"information_content":100.0}
{"id":"MONDO:0014764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia-severe developmental delay-epilepsy syndrome","equivalent_identifiers":["MONDO:0014764","OMIM:616756","orphanet:464282","UMLS:C4225215","medgen:897828"],"information_content":100.0}
{"id":"MONDO:0014765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wooly hair, autosomal recessive 3","equivalent_identifiers":["MONDO:0014765","DOID:0111574","OMIM:616760","UMLS:C4225214","medgen:902275"],"information_content":100.0}
{"id":"MONDO:0014766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukodystrophy and acquired microcephaly with or without dystonia;","equivalent_identifiers":["MONDO:0014766","OMIM:616763","UMLS:C4225213","medgen:908888"],"information_content":100.0}
{"id":"MONDO:0014767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 9","equivalent_identifiers":["MONDO:0014767","DOID:0070005","OMIM:616777","UMLS:C4225212","medgen:907155"],"information_content":100.0}
{"id":"MONDO:0014768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CADASIL 2","equivalent_identifiers":["MONDO:0014768","DOID:0111036","OMIM:616779","UMLS:C4225211","medgen:895965"],"information_content":95.4}
{"id":"MONDO:0014770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 25","equivalent_identifiers":["MONDO:0014770","DOID:0110994","OMIM:616781","UMLS:C4084842","medgen:895764"],"information_content":100.0}
{"id":"MONDO:0014771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 26","equivalent_identifiers":["MONDO:0014771","DOID:0110995","OMIM:616784","UMLS:C4084843","medgen:900415"],"information_content":100.0}
{"id":"MONDO:0014772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 15","equivalent_identifiers":["MONDO:0014772","DOID:0080408","OMIM:616788","UMLS:C4225209","medgen:909661"],"information_content":100.0}
{"id":"MONDO:0014773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac anomalies - developmental delay - facial dysmorphism syndrome","equivalent_identifiers":["MONDO:0014773","OMIM:616789","orphanet:369891","UMLS:C4225208","medgen:900924"],"information_content":100.0}
{"id":"MONDO:0014775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 28","equivalent_identifiers":["MONDO:0014775","DOID:0111470","OMIM:616794","orphanet:466784","UMLS:C5569081","SNOMEDCT:1187640000","medgen:1800504"],"information_content":100.0}
{"id":"MONDO:0014776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia type 42","equivalent_identifiers":["MONDO:0014776","DOID:0111742","OMIM:616795","orphanet:458803","EFO:0009059","UMLS:C4225205","NCIT:C171269","SNOMEDCT:1208513005","medgen:902592"],"information_content":95.4}
{"id":"MONDO:0014777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotonia, infantile, with psychomotor retardation and characteristic facies 2","equivalent_identifiers":["MONDO:0014777","OMIM:616801","UMLS:C4225203","medgen:907651"],"information_content":100.0}
{"id":"MONDO:0014778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lamb-Shaffer syndrome","equivalent_identifiers":["MONDO:0014778","OMIM:616803","orphanet:530983","UMLS:C4225202","SNOMEDCT:1251453008","medgen:903542"],"information_content":100.0}
{"id":"MONDO:0014779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilms tumor 6","equivalent_identifiers":["MONDO:0014779","OMIM:616806","UMLS:C3891301","medgen:855962"],"information_content":100.0}
{"id":"MONDO:0014780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperphosphatasia with intellectual disability syndrome 6","equivalent_identifiers":["MONDO:0014780","DOID:0070437","OMIM:616809","UMLS:C4225201","medgen:906509"],"information_content":100.0}
{"id":"MONDO:0014781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 29","equivalent_identifiers":["MONDO:0014781","DOID:0111501","OMIM:616811","orphanet:478029","UMLS:C5567607","SNOMEDCT:1172843003","medgen:1799030"],"information_content":100.0}
{"id":"MONDO:0014782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2X","equivalent_identifiers":["MONDO:0014782","DOID:0110290","OMIM:616812","orphanet:476084","UMLS:C5568138","SNOMEDCT:1179295004","medgen:1799561"],"information_content":100.0}
{"id":"MONDO:0014784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome","equivalent_identifiers":["MONDO:0014784","OMIM:616816","orphanet:467176","UMLS:C4225196","medgen:902080"],"information_content":100.0}
{"id":"MONDO:0014785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly, short stature, and impaired glucose metabolism 2","equivalent_identifiers":["MONDO:0014785","OMIM:616817","UMLS:C4225195","medgen:906140"],"information_content":100.0}
{"id":"MONDO:0014786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgA nephropathy, susceptibility to, 3","equivalent_identifiers":["MONDO:0014786","OMIM:616818","UMLS:C4225194","medgen:897340"],"information_content":100.0}
{"id":"MONDO:0014787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome","equivalent_identifiers":["MONDO:0014787","OMIM:616819","orphanet:466688","UMLS:C4225193","SNOMEDCT:1208727002","medgen:902346"],"information_content":100.0}
{"id":"MONDO:0014788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2W","equivalent_identifiers":["MONDO:0014788","DOID:0110288","OMIM:616827","UMLS:C4225192","SNOMEDCT:1179297007","medgen:897675"],"information_content":100.0}
{"id":"MONDO:0014789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CCDC115-CDG","equivalent_identifiers":["MONDO:0014789","DOID:0070267","OMIM:616828","orphanet:468684","UMLS:C4225191","SNOMEDCT:1187174002","medgen:906792"],"information_content":100.0}
{"id":"MONDO:0014790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TMEM199-CDG","equivalent_identifiers":["MONDO:0014790","DOID:0070268","OMIM:616829","orphanet:466703","UMLS:C4225190","SNOMEDCT:1208738002","medgen:895025"],"information_content":100.0}
{"id":"MONDO:0014791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Luscan-Lumish syndrome","equivalent_identifiers":["MONDO:0014791","OMIM:616831","orphanet:597738","UMLS:C4085873","SNOMEDCT:1300117002","medgen:898669"],"information_content":100.0}
{"id":"MONDO:0014792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paget disease of bone 6","equivalent_identifiers":["MONDO:0014792","DOID:0081369","OMIM:616833","UMLS:C4085250","medgen:908743"],"information_content":100.0}
{"id":"MONDO:0014793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-congenital cataract-psoriasiform dermatitis syndrome","equivalent_identifiers":["MONDO:0014793","OMIM:616834","orphanet:488168","UMLS:C5567510","SNOMEDCT:1172683008","medgen:1798933"],"information_content":100.0}
{"id":"MONDO:0014794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome 6","equivalent_identifiers":["MONDO:0014794","DOID:0080517","OMIM:616835","UMLS:C4225188","medgen:905079"],"information_content":100.0}
{"id":"MONDO:0014795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exercise intolerance, riboflavin-responsive","equivalent_identifiers":["MONDO:0014795","OMIM:616839","UMLS:C4225187","medgen:896368"],"information_content":100.0}
{"id":"MONDO:0014796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive early-onset Parkinson disease 23","equivalent_identifiers":["MONDO:0014796","DOID:0060896","OMIM:616840","UMLS:C4225186","NCIT:C203536","medgen:896607"],"information_content":100.0}
{"id":"MONDO:0014797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 6","equivalent_identifiers":["MONDO:0014797","OMIM:616843","orphanet:568062","EFO:0009153","UMLS:C4225184","SNOMEDCT:1222667006","medgen:908120"],"information_content":100.0}
{"id":"MONDO:0014798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type A1D","equivalent_identifiers":["MONDO:0014798","DOID:0110978","OMIM:616849","UMLS:C4225183","medgen:903193"],"information_content":100.0}
{"id":"MONDO:0014799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 45","equivalent_identifiers":["MONDO:0014799","DOID:0110262","OMIM:616851","UMLS:C4225182","medgen:895198"],"information_content":100.0}
{"id":"MONDO:0014800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive scapulohumeroperoneal distal myopathy","equivalent_identifiers":["MONDO:0014800","OMIM:616852","orphanet:447977","UMLS:C4225181","SNOMEDCT:1217226000","medgen:905125"],"information_content":100.0}
{"id":"MONDO:0014801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"even-plus syndrome","equivalent_identifiers":["MONDO:0014801","OMIM:616854","orphanet:496751","UMLS:C4225180","SNOMEDCT:1260203008","medgen:904613"],"information_content":100.0}
{"id":"MONDO:0014802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cowden syndrome 7","equivalent_identifiers":["MONDO:0014802","DOID:0081003","OMIM:616858","UMLS:C4225179","medgen:908796"],"information_content":100.0}
{"id":"MONDO:0014803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spasticity-ataxia-gait anomalies syndrome","equivalent_identifiers":["MONDO:0014803","OMIM:616859","orphanet:401866","UMLS:C4225178","SNOMEDCT:773492007","medgen:905660"],"information_content":100.0}
{"id":"MONDO:0014804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sideroblastic anemia 3","equivalent_identifiers":["MONDO:0014804","DOID:0080343","OMIM:616860","orphanet:255132","UMLS:C4225155","UMLS:C4304054","SNOMEDCT:720465002","medgen:895975"],"information_content":100.0}
{"id":"MONDO:0014806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy with congenital bone fractures 1","equivalent_identifiers":["MONDO:0014806","OMIM:616866","UMLS:C1849101","UMLS:C4225177","MESH:C564805","medgen:896011"],"information_content":100.0}
{"id":"MONDO:0014807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy with congenital bone fractures 2","equivalent_identifiers":["MONDO:0014807","OMIM:616867","UMLS:C4225176","medgen:907910"],"information_content":100.0}
{"id":"MONDO:0014808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital secretory sodium diarrhea 8","equivalent_identifiers":["MONDO:0014808","DOID:0060777","OMIM:616868","UMLS:C5441928","medgen:1783137"],"information_content":100.0}
{"id":"MONDO:0014811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar atrophy, visual impairment, and psychomotor retardation;","equivalent_identifiers":["MONDO:0014811","DOID:0081276","OMIM:616875","UMLS:C4225172","medgen:905041"],"information_content":100.0}
{"id":"MONDO:0014813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelinating leukodystrophy 13","equivalent_identifiers":["MONDO:0014813","DOID:0060795","OMIM:616881","UMLS:C4225170","medgen:896545"],"information_content":100.0}
{"id":"MONDO:0014814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"advanced sleep phase syndrome 3","equivalent_identifiers":["MONDO:0014814","DOID:0110013","OMIM:616882","UMLS:C4225169","medgen:909447"],"information_content":100.0}
{"id":"MONDO:0014815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 52","equivalent_identifiers":["MONDO:0014815","DOID:0081215","OMIM:616887","UMLS:C4225168","medgen:903181"],"information_content":100.0}
{"id":"MONDO:0014816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split-foot malformation-mesoaxial polydactyly syndrome","equivalent_identifiers":["MONDO:0014816","OMIM:616890","orphanet:488232","UMLS:C5567487","SNOMEDCT:1172635005","medgen:1798910"],"information_content":100.0}
{"id":"MONDO:0014817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 12","equivalent_identifiers":["MONDO:0014817","DOID:0080387","OMIM:616892","UMLS:C4225166","medgen:904365"],"information_content":100.0}
{"id":"MONDO:0014818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 13","equivalent_identifiers":["MONDO:0014818","DOID:0080381","OMIM:616893","UMLS:C4225165","medgen:900240"],"information_content":100.0}
{"id":"MONDO:0014819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Robinow syndrome 3","equivalent_identifiers":["MONDO:0014819","DOID:0060767","OMIM:616894","UMLS:C4225164","medgen:907878"],"information_content":100.0}
{"id":"MONDO:0014820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)","equivalent_identifiers":["MONDO:0014820","DOID:0080336","OMIM:616896","UMLS:C4225163","medgen:903789"],"information_content":100.0}
{"id":"MONDO:0014821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex lethal osteochondrodysplasia","equivalent_identifiers":["MONDO:0014821","OMIM:616897","orphanet:457378","UMLS:C4225162","SNOMEDCT:1228858000","medgen:900688"],"information_content":100.0}
{"id":"MONDO:0014822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"15q14 microdeletion syndrome","equivalent_identifiers":["MONDO:0014822","OMIM:616898","orphanet:261190","UMLS:C4305230","SNOMEDCT:719575008","medgen:930899"],"information_content":100.0}
{"id":"MONDO:0014823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotonia, infantile, with psychomotor retardation and characteristic facies 3","equivalent_identifiers":["MONDO:0014823","DOID:0060935","OMIM:616900","orphanet:488632","UMLS:C5567480","SNOMEDCT:1172628002","medgen:1798903"],"information_content":100.0}
{"id":"MONDO:0014825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 11p13 deletion syndrome, distal","equivalent_identifiers":["MONDO:0014825","OMIM:616902","UMLS:C4311047","medgen:935014"],"information_content":100.0}
{"id":"MONDO:0014827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 76","equivalent_identifiers":["MONDO:0014827","DOID:0110821","OMIM:616907","orphanet:488594","EFO:0009019","UMLS:C5567483","SNOMEDCT:1172631001","medgen:1798906"],"information_content":100.0}
{"id":"MONDO:0014828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency-centromeric instability-facial anomalies syndrome 3","equivalent_identifiers":["MONDO:0014828","DOID:0090010","OMIM:616910","UMLS:C4310799","medgen:934766"],"information_content":100.0}
{"id":"MONDO:0014829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency-centromeric instability-facial anomalies syndrome 4","equivalent_identifiers":["MONDO:0014829","DOID:0090011","OMIM:616911","UMLS:C4310798","medgen:934765"],"information_content":100.0}
{"id":"MONDO:0014830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 20","equivalent_identifiers":["MONDO:0014830","DOID:0111055","OMIM:616913","orphanet:466806","UMLS:C4310797","medgen:934764"],"information_content":100.0}
{"id":"MONDO:0014831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progeroid and marfanoid aspect-lipodystrophy syndrome","equivalent_identifiers":["MONDO:0014831","OMIM:616914","orphanet:300382","UMLS:C4310796","medgen:934763"],"information_content":100.0}
{"id":"MONDO:0014832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 53","equivalent_identifiers":["MONDO:0014832","OMIM:616917","orphanet:488635","UMLS:C4310794","medgen:934761"],"information_content":100.0}
{"id":"MONDO:0014833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart and brain malformation syndrome","equivalent_identifiers":["MONDO:0014833","OMIM:616920","UMLS:C4310793","medgen:934760"],"information_content":100.0}
{"id":"MONDO:0014835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"striatal degeneration, autosomal dominant 2","equivalent_identifiers":["MONDO:0014835","DOID:0060998","OMIM:616922","UMLS:C4310791","medgen:934758"],"information_content":100.0}
{"id":"MONDO:0014836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease axonal type 2CC","equivalent_identifiers":["MONDO:0014836","DOID:0110180","OMIM:616924","UMLS:C4310790","medgen:934757"],"information_content":100.0}
{"id":"MONDO:0014837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 6","equivalent_identifiers":["MONDO:0014837","OMIM:616937","orphanet:480851","UMLS:C4310789","medgen:934756"],"information_content":100.0}
{"id":"MONDO:0014838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coffin-Siris syndrome 5","equivalent_identifiers":["MONDO:0014838","DOID:0112368","OMIM:616938","UMLS:C4310788","medgen:934755"],"information_content":100.0}
{"id":"MONDO:0014839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chorea, childhood-onset, with psychomotor retardation","equivalent_identifiers":["MONDO:0014839","OMIM:616939","UMLS:C4310787","medgen:934754"],"information_content":100.0}
{"id":"MONDO:0014840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia 8, autosomal dominant","equivalent_identifiers":["MONDO:0014840","DOID:0081140","OMIM:616941","UMLS:C4310786","medgen:934753"],"information_content":100.0}
{"id":"MONDO:0014841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichothiodystrophy 6, nonphotosensitive","equivalent_identifiers":["MONDO:0014841","DOID:0111872","OMIM:616943","UMLS:C4310785","medgen:934752"],"information_content":100.0}
{"id":"MONDO:0014842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 41","equivalent_identifiers":["MONDO:0014842","DOID:0070071","OMIM:616944","UMLS:C4310784","medgen:934751"],"information_content":100.0}
{"id":"MONDO:0014843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 11","equivalent_identifiers":["MONDO:0014843","DOID:0080868","DOID:0080869","OMIM:616946","UMLS:C4310783","medgen:934750"],"information_content":100.0}
{"id":"MONDO:0014844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 12","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0014844","OMIM:616947","UMLS:C4310782","medgen:934749"],"information_content":100.0}
{"id":"MONDO:0014845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 22","equivalent_identifiers":["MONDO:0014845","DOID:0111614","OMIM:616948","UMLS:C4310781","medgen:934748"],"information_content":100.0}
{"id":"MONDO:0014846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 23","equivalent_identifiers":["MONDO:0014846","DOID:0111613","OMIM:616949","orphanet:404493","UMLS:C4750914","SNOMEDCT:773498006","medgen:1667331"],"information_content":100.0}
{"id":"MONDO:0014847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 15","equivalent_identifiers":["MONDO:0014847","DOID:0070172","OMIM:616950","UMLS:C4310779","medgen:934746"],"information_content":100.0}
{"id":"MONDO:0014848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TELO2-related intellectual disability-neurodevelopmental disorder","equivalent_identifiers":["MONDO:0014848","OMIM:616954","orphanet:488642","EFO:0009061","UMLS:C4310778","SNOMEDCT:1172626003","medgen:934745"],"information_content":100.0}
{"id":"MONDO:0014850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa and erythrocytic microcytosis","equivalent_identifiers":["MONDO:0014850","OMIM:616959","UMLS:C4310776","medgen:934743"],"information_content":100.0}
{"id":"MONDO:0014851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercalcemia, infantile, 2","equivalent_identifiers":["MONDO:0014851","OMIM:616963","UMLS:C4310473","MEDDRA:10090538","MEDDRA:10090541","medgen:934441"],"information_content":100.0}
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{"id":"MONDO:0014854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss 66","equivalent_identifiers":["MONDO:0014854","DOID:0110587","OMIM:616969","UMLS:C4283893","medgen:924418"],"information_content":100.0}
{"id":"MONDO:0014855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 42","equivalent_identifiers":["MONDO:0014855","DOID:0070072","OMIM:616973","orphanet:488613","UMLS:C4310774","medgen:934741"],"information_content":100.0}
{"id":"MONDO:0014856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation defect type 30","equivalent_identifiers":["MONDO:0014856","DOID:0111471","OMIM:616974","orphanet:478042","EFO:0009038","UMLS:C5567605","SNOMEDCT:1172841001","medgen:1799028"],"information_content":100.0}
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{"id":"MONDO:0014860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic liver disease 2","equivalent_identifiers":["MONDO:0014860","DOID:0060975","OMIM:617004","UMLS:C4310769","medgen:934736"],"information_content":100.0}
{"id":"MONDO:0014861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune disease, multisystem, infantile-onset, 2","equivalent_identifiers":["MONDO:0014861","OMIM:617006","EFO:0005140","UMLS:C4310768","MEDDRA:10003814","medgen:934735"],"information_content":100.0}
{"id":"MONDO:0014862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral palsy, spastic quadriplegic, 3","equivalent_identifiers":["MONDO:0014862","DOID:0081361","OMIM:617008","UMLS:C4310767","medgen:934734"],"information_content":100.0}
{"id":"MONDO:0014863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocephaly, dysmorphic facies, and psychomotor retardation","equivalent_identifiers":["MONDO:0014863","OMIM:617011","UMLS:C4310766","medgen:934733"],"information_content":95.4}
{"id":"MONDO:0014864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypermanganesemia with dystonia 2","equivalent_identifiers":["MONDO:0014864","DOID:0080537","OMIM:617013","orphanet:521406","UMLS:C4310765","SNOMEDCT:768554008","medgen:934732"],"information_content":100.0}
{"id":"MONDO:0014865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive severe congenital neutropenia due to CSF3R deficiency","equivalent_identifiers":["MONDO:0014865","DOID:0112129","OMIM:617014","orphanet:420702","UMLS:C4310764","NCIT:C176614","medgen:934731"],"information_content":100.0}
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{"id":"MONDO:0014867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 43","equivalent_identifiers":["MONDO:0014867","DOID:0111745","OMIM:617018","orphanet:497764","EFO:0009060","UMLS:C4310763","SNOMEDCT:1208516002","medgen:934730"],"information_content":100.0}
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{"id":"MONDO:0014869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome","equivalent_identifiers":["MONDO:0014869","OMIM:617021","orphanet:528091","UMLS:C4310761","SNOMEDCT:1237349008","medgen:934728"],"information_content":100.0}
{"id":"MONDO:0014870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NEK9-related lethal skeletal dysplasia","equivalent_identifiers":["MONDO:0014870","OMIM:617022","orphanet:464366","UMLS:C5568141","SNOMEDCT:1179299005","medgen:1799564"],"information_content":100.0}
{"id":"MONDO:0014871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 75","equivalent_identifiers":["MONDO:0014871","DOID:0110361","OMIM:617023","UMLS:C4310759","medgen:934726"],"information_content":100.0}
{"id":"MONDO:0014872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness 1H","equivalent_identifiers":["MONDO:0014872","DOID:0110866","OMIM:617024","UMLS:C4310758","medgen:934725"],"information_content":100.0}
{"id":"MONDO:0014873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nevus comedonicus syndrome","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0014873","OMIM:617025","orphanet:64754","UMLS:C0265987","NCIT:C3946","SNOMEDCT:35962006","medgen:75592","HP:0020154"],"information_content":100.0}
{"id":"MONDO:0014874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia, type 2F","equivalent_identifiers":["MONDO:0014874","DOID:0112329","OMIM:617026","UMLS:C4310757","medgen:934724"],"information_content":100.0}
{"id":"MONDO:0014875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperaldosteronism, familial, type IV","equivalent_identifiers":["MONDO:0014875","OMIM:617027","orphanet:642671","UMLS:C4310756","SNOMEDCT:1351276005","medgen:934723"],"information_content":100.0}
{"id":"MONDO:0014876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 54","equivalent_identifiers":["MONDO:0014876","DOID:0081216","OMIM:617028","UMLS:C4310755","medgen:934722"],"information_content":100.0}
{"id":"MONDO:0014877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, distal, 5","equivalent_identifiers":["MONDO:0014877","OMIM:617030","orphanet:482601","UMLS:C5567521","SNOMEDCT:1172694007","medgen:1798944"],"information_content":100.0}
{"id":"MONDO:0014878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patent ductus arteriosus 2","equivalent_identifiers":["MONDO:0014878","OMIM:617035","UMLS:C4284595","medgen:924886"],"information_content":100.0}
{"id":"MONDO:0014880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Duane retraction syndrome 3 with or without deafness","equivalent_identifiers":["MONDO:0014880","DOID:0061029","OMIM:617041","UMLS:C4310752","medgen:934719"],"information_content":100.0}
{"id":"MONDO:0014881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transketolase deficiency","equivalent_identifiers":["MONDO:0014881","OMIM:617044","orphanet:488618","UMLS:C5700245","SNOMEDCT:1237512003","medgen:1814561"],"information_content":100.0}
{"id":"MONDO:0014882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spastic paraplegia 77","equivalent_identifiers":["MONDO:0014882","DOID:0110822","OMIM:617046","orphanet:466722","UMLS:C5569007","SNOMEDCT:1187506008","medgen:1800430"],"information_content":100.0}
{"id":"MONDO:0014883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy 26","equivalent_identifiers":["MONDO:0014883","DOID:0110327","OMIM:617047","UMLS:C4310749","UMLS:C5830134","UMLS:C5830135","UMLS:C5830688","NCIT:C179295","medgen:934716"],"information_content":100.0}
{"id":"MONDO:0014884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholestasis, progressive familial intrahepatic, 5","equivalent_identifiers":["MONDO:0014884","DOID:0070225","OMIM:617049","orphanet:480476","UMLS:C4310747","medgen:934714"],"information_content":100.0}
{"id":"MONDO:0014885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome 10","equivalent_identifiers":["MONDO:0014885","OMIM:617050","orphanet:664511","UMLS:C4310746","medgen:934713"],"information_content":100.0}
{"id":"MONDO:0014886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome","equivalent_identifiers":["MONDO:0014886","OMIM:617051","orphanet:488627","UMLS:C4310745","medgen:934712"],"information_content":100.0}
{"id":"MONDO:0014887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone marrow failure syndrome 3","equivalent_identifiers":["MONDO:0014887","OMIM:617052","UMLS:C4310744","medgen:934711"],"information_content":100.0}
{"id":"MONDO:0014888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MIRAGE syndrome","equivalent_identifiers":["MONDO:0014888","OMIM:617053","orphanet:494433","UMLS:C4284088","NCIT:C147530","SNOMEDCT:1234831009","medgen:924576"],"information_content":95.4}
{"id":"MONDO:0014889","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"striatonigral degeneration, childhood-onset","equivalent_identifiers":["MONDO:0014889","OMIM:617054","orphanet:497906","UMLS:C4310743","SNOMEDCT:1172584005","medgen:934710"],"information_content":100.0}
{"id":"MONDO:0014890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PERCHING syndrome","equivalent_identifiers":["MONDO:0014890","DOID:0080331","OMIM:617055","orphanet:603684","UMLS:C4310742","SNOMEDCT:1304116002","medgen:934709"],"information_content":100.0}
{"id":"MONDO:0014891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperuricemic nephropathy, familial juvenile type 4","equivalent_identifiers":["MONDO:0014891","DOID:0061120","OMIM:617056","UMLS:C4310741","medgen:934708"],"information_content":100.0}
{"id":"MONDO:0014892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome","equivalent_identifiers":["MONDO:0014892","DOID:0070074","OMIM:617061","orphanet:476126","UMLS:C4310740","medgen:934707"],"information_content":100.0}
{"id":"MONDO:0014893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Okur-Chung neurodevelopmental syndrome","equivalent_identifiers":["MONDO:0014893","OMIM:617062","orphanet:689422","UMLS:C4310739","medgen:934706"],"information_content":100.0}
{"id":"MONDO:0014894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome 7","equivalent_identifiers":["MONDO:0014894","DOID:0080518","OMIM:617063","UMLS:C4310738","medgen:934705"],"information_content":100.0}
{"id":"MONDO:0014895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 40","equivalent_identifiers":["MONDO:0014895","DOID:0080427","OMIM:617065","UMLS:C4310737","medgen:934704"],"information_content":100.0}
{"id":"MONDO:0014896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome","equivalent_identifiers":["MONDO:0014896","OMIM:617066","orphanet:486815","UMLS:C4310736","SNOMEDCT:1172688004","medgen:934703"],"information_content":100.0}
{"id":"MONDO:0014898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3","equivalent_identifiers":["MONDO:0014898","DOID:0111523","OMIM:617069","UMLS:C4310734","medgen:934701"],"information_content":100.0}
{"id":"MONDO:0014899","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4","equivalent_identifiers":["MONDO:0014899","DOID:0111516","OMIM:617070","orphanet:329314","UMLS:C4310733","UMLS:C4518838","SNOMEDCT:733599009","medgen:934700"],"information_content":100.0}
{"id":"MONDO:0014900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2Y","equivalent_identifiers":["MONDO:0014900","DOID:0110289","OMIM:617072","orphanet:424261","UMLS:C4511482","NCIT:C181000","SNOMEDCT:725907002","medgen:1385152"],"information_content":100.0}
{"id":"MONDO:0014901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth agenesis, selective, 8","equivalent_identifiers":["MONDO:0014901","OMIM:617073","UMLS:C4310730","medgen:934697"],"information_content":100.0}
{"id":"MONDO:0014903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures, benign familial infantile, 5","equivalent_identifiers":["MONDO:0014903","DOID:0081118","OMIM:617080","UMLS:C4310728","medgen:934695"],"information_content":100.0}
{"id":"MONDO:0014904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type IAA","equivalent_identifiers":["MONDO:0014904","DOID:0080553","OMIM:617082","UMLS:C4310727","medgen:934694"],"information_content":100.0}
{"id":"MONDO:0014905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy due to defective mitochondrial and peroxisomal fission 2","equivalent_identifiers":["MONDO:0014905","DOID:0060994","OMIM:617086","orphanet:485421","UMLS:C4310726","medgen:934693"],"information_content":100.0}
{"id":"MONDO:0014906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;","equivalent_identifiers":["MONDO:0014906","DOID:0111557","OMIM:617087","UMLS:C4310725","NCIT:C150647","medgen:934692"],"information_content":100.0}
{"id":"MONDO:0014907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 15 with polydactyly","equivalent_identifiers":["MONDO:0014907","OMIM:617088","UMLS:C4310724","medgen:934691"],"information_content":100.0}
{"id":"MONDO:0014908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 17, primary, autosomal recessive","equivalent_identifiers":["MONDO:0014908","DOID:0070288","OMIM:617090","UMLS:C4310723","medgen:934690"],"information_content":100.0}
{"id":"MONDO:0014909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 34","equivalent_identifiers":["MONDO:0014909","DOID:0110610","OMIM:617091","UMLS:C4310722","medgen:934689"],"information_content":100.0}
{"id":"MONDO:0014910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 35","equivalent_identifiers":["MONDO:0014910","DOID:0110620","OMIM:617092","UMLS:C4310721","medgen:934688"],"information_content":100.0}
{"id":"MONDO:0014911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy","equivalent_identifiers":["MONDO:0014911","OMIM:617093","orphanet:541423","EFO:0009155","UMLS:C4310720","medgen:934687"],"information_content":100.0}
{"id":"MONDO:0014912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive","equivalent_identifiers":["MONDO:0014912","DOID:0080163","OMIM:617099","orphanet:500062","UMLS:C4310614","NCIT:C174441","SNOMEDCT:765435009","medgen:934581"],"information_content":100.0}
{"id":"MONDO:0014914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dias-Logan syndrome","equivalent_identifiers":["MONDO:0014914","OMIM:617101","UMLS:C4310833","MEDDRA:10090512","medgen:934800"],"information_content":100.0}
{"id":"MONDO:0014915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 16 with or without polydactyly","equivalent_identifiers":["MONDO:0014915","OMIM:617102","UMLS:C4310718","medgen:934685"],"information_content":100.0}
{"id":"MONDO:0014916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 41","equivalent_identifiers":["MONDO:0014916","DOID:0080442","OMIM:617105","UMLS:C4310717","medgen:934684"],"information_content":100.0}
{"id":"MONDO:0014917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 42","equivalent_identifiers":["MONDO:0014917","DOID:0080454","OMIM:617106","UMLS:C4310716","NCIT:C188142","medgen:934683"],"information_content":100.0}
{"id":"MONDO:0014918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tall stature-intellectual disability-renal anomalies syndrome","equivalent_identifiers":["MONDO:0014918","OMIM:617107","orphanet:500095","UMLS:C4310715","SNOMEDCT:1169359006","medgen:934682"],"information_content":100.0}
{"id":"MONDO:0014920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patterned macular dystrophy 3","equivalent_identifiers":["MONDO:0014920","DOID:0060865","OMIM:617111","orphanet:466718","UMLS:C4310713","SNOMEDCT:1187639002","medgen:934680"],"information_content":100.0}
{"id":"MONDO:0014921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 43","equivalent_identifiers":["MONDO:0014921","DOID:0080447","OMIM:617113","UMLS:C4310712","medgen:934679"],"information_content":100.0}
{"id":"MONDO:0014922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy 7","equivalent_identifiers":["MONDO:0014922","DOID:0080098","OMIM:617114","UMLS:C4310711","medgen:934678"],"information_content":100.0}
{"id":"MONDO:0014923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peeling skin syndrome 5","equivalent_identifiers":["MONDO:0014923","DOID:0070524","OMIM:617115","UMLS:C4310710","medgen:934677"],"information_content":100.0}
{"id":"MONDO:0014924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial focal, with variable foci 2","equivalent_identifiers":["MONDO:0014924","DOID:0081422","OMIM:617116","UMLS:C4310709","medgen:934676"],"information_content":100.0}
{"id":"MONDO:0014925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial focal, with variable foci 3","equivalent_identifiers":["MONDO:0014925","DOID:0081423","OMIM:617118","UMLS:C4310708","medgen:934675"],"information_content":100.0}
{"id":"MONDO:0014926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 22","equivalent_identifiers":["MONDO:0014926","DOID:0081011","OMIM:617119","UMLS:C5561936","medgen:1794146"],"information_content":100.0}
{"id":"MONDO:0014927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 27","equivalent_identifiers":["MONDO:0014927","DOID:0110996","OMIM:617120","UMLS:C4310706","medgen:934673"],"information_content":100.0}
{"id":"MONDO:0014928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 28","equivalent_identifiers":["MONDO:0014928","DOID:0110997","OMIM:617121","UMLS:C4310705","medgen:934672"],"information_content":100.0}
{"id":"MONDO:0014929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 76","equivalent_identifiers":["MONDO:0014929","DOID:0061103","OMIM:617123","UMLS:C4310704","medgen:934671"],"information_content":100.0}
{"id":"MONDO:0014930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 56","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0014930","DOID:0081217","OMIM:617125","UMLS:C4310703","medgen:934670"],"information_content":100.0}
{"id":"MONDO:0014931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alazami-Yuan syndrome","equivalent_identifiers":["MONDO:0014931","OMIM:617126","UMLS:C4310702","medgen:934669"],"information_content":100.0}
{"id":"MONDO:0014932","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome XV","equivalent_identifiers":["MONDO:0014932","OMIM:617127","UMLS:C4310701","medgen:934668"],"information_content":100.0}
{"id":"MONDO:0014933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 44","equivalent_identifiers":["MONDO:0014933","DOID:0080424","OMIM:617132","UMLS:C4310700","NCIT:C202547","medgen:934667"],"information_content":100.0}
{"id":"MONDO:0014934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 24","equivalent_identifiers":["MONDO:0014934","DOID:0111615","OMIM:617133","UMLS:C4310699","medgen:934666"],"information_content":100.0}
{"id":"MONDO:0014935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontometaphyseal dysplasia 2","equivalent_identifiers":["MONDO:0014935","DOID:0111787","OMIM:617137","UMLS:C4310697","medgen:934664"],"information_content":100.0}
{"id":"MONDO:0014936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ZTTK syndrome","equivalent_identifiers":["MONDO:0014936","DOID:0060953","OMIM:617140","orphanet:500150","UMLS:C4310696","MEDDRA:10081208","SNOMEDCT:1169355000","medgen:934663"],"information_content":100.0}
{"id":"MONDO:0014937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia 2","equivalent_identifiers":["MONDO:0014937","OMIM:617141","UMLS:C0344543","MESH:C536372","SNOMEDCT:253232000","medgen:138010"],"information_content":100.0}
{"id":"MONDO:0014938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia 3","equivalent_identifiers":["MONDO:0014938","OMIM:617142","UMLS:C4310695","medgen:934662"],"information_content":100.0}
{"id":"MONDO:0014939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 20","equivalent_identifiers":["MONDO:0014939","DOID:0110661","OMIM:617143","UMLS:C4310694","medgen:934661"],"information_content":100.0}
{"id":"MONDO:0014940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset","equivalent_identifiers":["MONDO:0014940","DOID:0081364","OMIM:617145","UMLS:C4310693","medgen:934660"],"information_content":100.0}
{"id":"MONDO:0014941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, distal, with impaired proprioception and touch","equivalent_identifiers":["MONDO:0014941","OMIM:617146","UMLS:C4310692","medgen:934659"],"information_content":100.0}
{"id":"MONDO:0014942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 45","equivalent_identifiers":["MONDO:0014942","DOID:0080428","OMIM:617153","UMLS:C4310691","medgen:934658"],"information_content":100.0}
{"id":"MONDO:0014943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 15 (hepatocerebral type)","equivalent_identifiers":["MONDO:0014943","DOID:0080337","OMIM:617156","UMLS:C4310690","medgen:934657"],"information_content":100.0}
{"id":"MONDO:0014944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-brachydactyly-obesity-global developmental delay syndrome","equivalent_identifiers":["MONDO:0014944","OMIM:617157","orphanet:464288","UMLS:C4310689","medgen:934656"],"information_content":100.0}
{"id":"MONDO:0014945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, distal, with rimmed vacuoles","equivalent_identifiers":["MONDO:0014945","DOID:0081363","OMIM:617158","UMLS:C5399975","medgen:1728314"],"information_content":100.0}
{"id":"MONDO:0014946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sifrim-Hitz-Weiss syndrome","equivalent_identifiers":["MONDO:0014946","DOID:0070529","OMIM:617159","orphanet:653712","UMLS:C4310688","NCIT:C201595","SNOMEDCT:1332510002","medgen:934655"],"information_content":100.0}
{"id":"MONDO:0014947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 46","equivalent_identifiers":["MONDO:0014947","DOID:0080456","OMIM:617162","UMLS:C4310687","NCIT:C177545","medgen:934654"],"information_content":100.0}
{"id":"MONDO:0014948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay","equivalent_identifiers":["MONDO:0014948","OMIM:617164","orphanet:659702","UMLS:C4310686","medgen:934653"],"information_content":100.0}
{"id":"MONDO:0014949","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 47","equivalent_identifiers":["MONDO:0014949","DOID:0080425","OMIM:617166","UMLS:C4310685","NCIT:C201514","medgen:934652"],"information_content":100.0}
{"id":"MONDO:0014950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm, familial thoracic 10","equivalent_identifiers":["MONDO:0014950","OMIM:617168","UMLS:C4284414","medgen:924785"],"information_content":100.0}
{"id":"MONDO:0014951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal recessive 74","equivalent_identifiers":["MONDO:0014951","DOID:0081218","DOID:0112104","OMIM:617169","UMLS:C4310684","medgen:934651"],"information_content":100.0}
{"id":"MONDO:0014952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-epilepsy-extrapyramidal syndrome","equivalent_identifiers":["MONDO:0014952","OMIM:617171","orphanet:468620","UMLS:C4310683","medgen:934650"],"information_content":100.0}
{"id":"MONDO:0014953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gnb5-related intellectual disability-cardiac arrhythmia syndrome","equivalent_identifiers":["MONDO:0014953","DOID:0081008","OMIM:617173","orphanet:542306","UMLS:C5568877","NCIT:C164154","SNOMEDCT:1186711002","medgen:1800300"],"information_content":100.0}
{"id":"MONDO:0014954","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, periodontal type 2","equivalent_identifiers":["MONDO:0014954","DOID:0080987","OMIM:617174","UMLS:C4310681","medgen:934648"],"information_content":100.0}
{"id":"MONDO:0014955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RCBTB1-related retinopathy","equivalent_identifiers":["MONDO:0014955","OMIM:617175","UMLS:C4310680","NCIT:C164155","medgen:934647"],"information_content":100.0}
{"id":"MONDO:0014956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chitayat syndrome","equivalent_identifiers":["MONDO:0014956","OMIM:617180","UMLS:C4310679","medgen:934646"],"information_content":100.0}
{"id":"MONDO:0014957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia","equivalent_identifiers":["MONDO:0014957","OMIM:617182","UMLS:C4310678","medgen:934645"],"information_content":100.0}
{"id":"MONDO:0014958","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Harel-Yoon syndrome","equivalent_identifiers":["MONDO:0014958","DOID:0081395","OMIM:617183","orphanet:496790","UMLS:C4310677","SNOMEDCT:1172586007","medgen:934644"],"information_content":100.0}
{"id":"MONDO:0014959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant","equivalent_identifiers":["MONDO:0014959","DOID:0080130","OMIM:617184","UMLS:C4310676","medgen:934643"],"information_content":100.0}
{"id":"MONDO:0014961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 16","equivalent_identifiers":["MONDO:0014961","DOID:0070184","OMIM:617187","UMLS:C4310674","medgen:934641"],"information_content":100.0}
{"id":"MONDO:0014962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 57","equivalent_identifiers":["MONDO:0014962","DOID:0081219","OMIM:617188","UMLS:C4310673","medgen:934640"],"information_content":100.0}
{"id":"MONDO:0014963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shashi-Pena syndrome","equivalent_identifiers":["MONDO:0014963","OMIM:617190","orphanet:689408","UMLS:C4310672","medgen:934639"],"information_content":100.0}
{"id":"MONDO:0014965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal congenital contracture syndrome 11","equivalent_identifiers":["MONDO:0014965","OMIM:617194","UMLS:C4310670","medgen:934637"],"information_content":100.0}
{"id":"MONDO:0014966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periventricular nodular heterotopia 7","equivalent_identifiers":["MONDO:0014966","OMIM:617201","UMLS:C4310669","medgen:934636"],"information_content":100.0}
{"id":"MONDO:0014967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterotaxy, visceral, 8, autosomal","equivalent_identifiers":["MONDO:0014967","DOID:0051022","OMIM:617205","UMLS:C4310668","medgen:934635"],"information_content":100.0}
{"id":"MONDO:0014968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy, progressive, with amyotrophy and optic atrophy","equivalent_identifiers":["MONDO:0014968","OMIM:617207","UMLS:C4310667","medgen:934634"],"information_content":100.0}
{"id":"MONDO:0014969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated sedoheptulokinase deficiency","equivalent_identifiers":["MONDO:0014969","OMIM:617213","orphanet:440713","UMLS:C1291373","SNOMEDCT:124309005","medgen:713680"],"information_content":100.0}
{"id":"MONDO:0014970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 17","equivalent_identifiers":["MONDO:0014970","DOID:0070174","OMIM:617214","UMLS:C4310666","medgen:934633"],"information_content":100.0}
{"id":"MONDO:0014971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta, hypomaturation type, IIa6","equivalent_identifiers":["MONDO:0014971","DOID:0080960","OMIM:617217","UMLS:C4310665","medgen:934632"],"information_content":100.0}
{"id":"MONDO:0014972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 19q13.11 deletion syndrome, proximal","equivalent_identifiers":["MONDO:0014972","OMIM:617219","UMLS:C4311046","medgen:935013"],"information_content":100.0}
{"id":"MONDO:0014973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sudden cardiac failure, infantile","equivalent_identifiers":["MONDO:0014973","OMIM:617222","UMLS:C4310664","medgen:934631"],"information_content":100.0}
{"id":"MONDO:0014974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sudden cardiac failure, alcohol-induced","equivalent_identifiers":["MONDO:0014974","OMIM:617223","UMLS:C4310663","medgen:934630"],"information_content":100.0}
{"id":"MONDO:0014975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 78","equivalent_identifiers":["MONDO:0014975","DOID:0112348","OMIM:617225","orphanet:513436","UMLS:C5567893","SNOMEDCT:1177168007","medgen:1799316"],"information_content":100.0}
{"id":"MONDO:0014976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome","equivalent_identifiers":["MONDO:0014976","DOID:0111488","OMIM:617228","orphanet:478049","UMLS:C4310661","medgen:934628"],"information_content":100.0}
{"id":"MONDO:0014977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive limb-girdle muscular dystrophy type 2R1","equivalent_identifiers":["MONDO:0014977","DOID:0080762","OMIM:617232","orphanet:480682","UMLS:C4310660","NCIT:C142082","SNOMEDCT:1172703004","medgen:934627"],"information_content":100.0}
{"id":"MONDO:0014979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonus, intractable, neonatal","equivalent_identifiers":["MONDO:0014979","OMIM:617235","UMLS:C4310658","medgen:934625"],"information_content":100.0}
{"id":"MONDO:0014981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 49","equivalent_identifiers":["MONDO:0014981","DOID:0111979","OMIM:617237","UMLS:C4310656","medgen:934623"],"information_content":100.0}
{"id":"MONDO:0014982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 25, autosomal dominant","equivalent_identifiers":["MONDO:0014982","OMIM:617238","UMLS:C4310655","medgen:934622"],"information_content":100.0}
{"id":"MONDO:0014983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome 21","equivalent_identifiers":["MONDO:0014983","DOID:0110672","OMIM:617239","UMLS:C4310654","medgen:934621"],"information_content":100.0}
{"id":"MONDO:0014984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung disease, immunodeficiency, and chromosome breakage syndrome;","equivalent_identifiers":["MONDO:0014984","OMIM:617241","UMLS:C4310653","SNOMEDCT:1354861009","medgen:934620"],"information_content":100.0}
{"id":"MONDO:0014985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group V","equivalent_identifiers":["MONDO:0014985","DOID:0111080","OMIM:617243","UMLS:C4310652","medgen:934619"],"information_content":100.0}
{"id":"MONDO:0014986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group R","equivalent_identifiers":["MONDO:0014986","DOID:0111090","OMIM:617244","UMLS:C4284093","medgen:924579"],"information_content":100.0}
{"id":"MONDO:0014987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia complementation group U","equivalent_identifiers":["MONDO:0014987","DOID:0111085","OMIM:617247","UMLS:C4310651","medgen:934618"],"information_content":100.0}
{"id":"MONDO:0014989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uncombable hair syndrome 2","equivalent_identifiers":["MONDO:0014989","OMIM:617251","UMLS:C4310649","medgen:934616"],"information_content":100.0}
{"id":"MONDO:0014990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uncombable hair syndrome 3","equivalent_identifiers":["MONDO:0014990","OMIM:617252","UMLS:C4310648","medgen:934615"],"information_content":100.0}
{"id":"MONDO:0014991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 10","equivalent_identifiers":["MONDO:0014991","DOID:0070008","OMIM:617253","UMLS:C4310647","medgen:934614"],"information_content":100.0}
{"id":"MONDO:0014992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly 8","equivalent_identifiers":["MONDO:0014992","DOID:0112233","OMIM:617255","UMLS:C4310646","medgen:934613"],"information_content":100.0}
{"id":"MONDO:0014993","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy 8","equivalent_identifiers":["MONDO:0014993","DOID:0080308","OMIM:617258","UMLS:C4310645","medgen:934612"],"information_content":100.0}
{"id":"MONDO:0014994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies","equivalent_identifiers":["MONDO:0014994","OMIM:617260","UMLS:C4310644","medgen:934611"],"information_content":100.0}
{"id":"MONDO:0014995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with hypotonia, seizures, and absent language","equivalent_identifiers":["MONDO:0014995","OMIM:617268","UMLS:C4310643","medgen:934610"],"information_content":100.0}
{"id":"MONDO:0014996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal recessive 58","equivalent_identifiers":["MONDO:0014996","DOID:0081220","OMIM:617270","UMLS:C4310641","medgen:934608"],"information_content":100.0}
{"id":"MONDO:0014997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis 20","equivalent_identifiers":["MONDO:0014997","DOID:0111127","OMIM:617271","UMLS:C4310640","medgen:934607"],"information_content":100.0}
{"id":"MONDO:0014998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma 3, primary congenital, E","equivalent_identifiers":["MONDO:0014998","OMIM:617272","UMLS:C4310639","medgen:934606"],"information_content":100.0}
{"id":"MONDO:0014999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth agenesis, selective, 9","equivalent_identifiers":["MONDO:0014999","OMIM:617275","UMLS:C4310638","medgen:934605"],"information_content":100.0}
{"id":"MONDO:0015000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 48","equivalent_identifiers":["MONDO:0015000","DOID:0080448","OMIM:617276","UMLS:C4310637","medgen:934604"],"information_content":100.0}
{"id":"MONDO:0015001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial fibrillation, familial, 18","equivalent_identifiers":["MONDO:0015001","OMIM:617280","UMLS:C4310636","medgen:934603"],"information_content":100.0}
{"id":"MONDO:0015002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 49","equivalent_identifiers":["MONDO:0015002","DOID:0080441","OMIM:617281","UMLS:C4310635","medgen:934602"],"information_content":100.0}
{"id":"MONDO:0015003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MEPAN syndrome","equivalent_identifiers":["MONDO:0015003","DOID:0081419","OMIM:617282","orphanet:508093","UMLS:C4310634","SNOMEDCT:1236805005","medgen:934601"],"information_content":100.0}
{"id":"MONDO:0015004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dystonia 28","equivalent_identifiers":["MONDO:0015004","DOID:0060936","OMIM:617284","orphanet:589618","EFO:0009301","UMLS:C4310633","SNOMEDCT:1281844004","medgen:934600","ICD10:G24.8"],"information_content":100.0}
{"id":"MONDO:0015005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, early-onset, vitamin B6-dependent","equivalent_identifiers":["MONDO:0015005","DOID:0080769","OMIM:617290","UMLS:C4310632","medgen:934599"],"information_content":100.0}
{"id":"MONDO:0015006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss","equivalent_identifiers":["MONDO:0015006","OMIM:617294","orphanet:508529","UMLS:C4310631","medgen:934598"],"information_content":100.0}
{"id":"MONDO:0015007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia, intellectual disability, nystagmus, and obesity","equivalent_identifiers":["MONDO:0015007","OMIM:617296","orphanet:521390","UMLS:C4284592","SNOMEDCT:1260134001","medgen:924883"],"information_content":100.0}
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{"id":"MONDO:0015009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 7","equivalent_identifiers":["MONDO:0015009","OMIM:617300","UMLS:C4310629","medgen:934596"],"information_content":100.0}
{"id":"MONDO:0015010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical glycine encephalopathy","equivalent_identifiers":["MONDO:0015010","OMIM:617301","orphanet:289863","UMLS:C4310943","medgen:934910","icd11.foundation:51420481"],"information_content":100.0}
{"id":"MONDO:0015011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 11","equivalent_identifiers":["MONDO:0015011","DOID:0111436","OMIM:617302","UMLS:C4310628","medgen:934595"],"information_content":100.0}
{"id":"MONDO:0015012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis-plus syndrome","equivalent_identifiers":["MONDO:0015012","OMIM:617303","orphanet:505248","UMLS:C4310627","UMLS:C5568800","SNOMEDCT:1187113001","medgen:934594"],"information_content":100.0}
{"id":"MONDO:0015013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 77","equivalent_identifiers":["MONDO:0015013","DOID:0080350","OMIM:617304","UMLS:C4310626","medgen:934593"],"information_content":100.0}
{"id":"MONDO:0015014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness","equivalent_identifiers":["MONDO:0015014","OMIM:617306","orphanet:603494","UMLS:C4310625","SNOMEDCT:1332382002","medgen:934592"],"information_content":100.0}
{"id":"MONDO:0015015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bile acid synthesis defect 6","equivalent_identifiers":["MONDO:0015015","DOID:0111067","OMIM:617308","UMLS:C4310624","medgen:934591"],"information_content":100.0}
{"id":"MONDO:0015016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior segment dysgenesis 6","equivalent_identifiers":["MONDO:0015016","DOID:0080611","OMIM:617315","UMLS:C4310623","medgen:934590"],"information_content":100.0}
{"id":"MONDO:0015017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior segment dysgenesis 8","equivalent_identifiers":["MONDO:0015017","DOID:0080613","OMIM:617319","orphanet:519388","UMLS:C4310622","SNOMEDCT:1197358003","medgen:934589"],"information_content":100.0}
{"id":"MONDO:0015018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis, congenital, autosomal recessive 12","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0015018","OMIM:617320","UMLS:C4310621","medgen:934588"],"information_content":100.0}
{"id":"MONDO:0015019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Yao syndrome","equivalent_identifiers":["MONDO:0015019","OMIM:617321","UMLS:C4310620","MESH:C000730393","MEDDRA:10087171","SNOMEDCT:768667002","medgen:934587"],"information_content":100.0}
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{"id":"MONDO:0015021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotonia, ataxia, and delayed development syndrome","equivalent_identifiers":["MONDO:0015021","DOID:0081176","OMIM:617330","orphanet:658843","UMLS:C4310618","medgen:934585"],"information_content":100.0}
{"id":"MONDO:0015022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder with dysmorphic facies and ptosis","equivalent_identifiers":["MONDO:0015022","OMIM:617333","EFO:0009070","UMLS:C4310617","medgen:934584"],"information_content":100.0}
{"id":"MONDO:0015023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MYPN-related myopathy","equivalent_identifiers":["MONDO:0015023","DOID:0110933","OMIM:617336","UMLS:C4479186","medgen:1384302"],"information_content":100.0}
{"id":"MONDO:0015024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type","equivalent_identifiers":["MONDO:0015024","DOID:0111652","OMIM:617337","UMLS:C4310616","medgen:934583"],"information_content":100.0}
{"id":"MONDO:0015025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 51","equivalent_identifiers":["MONDO:0015025","DOID:0080433","OMIM:617339","UMLS:C4479208","medgen:1372686"],"information_content":100.0}
{"id":"MONDO:0015026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebroretinal microangiopathy with calcifications and cysts 2","equivalent_identifiers":["MONDO:0015026","OMIM:617341","UMLS:C4479220","medgen:1390862"],"information_content":100.0}
{"id":"MONDO:0015028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"XXYY Syndrome","equivalent_identifiers":["MONDO:0015028","orphanet:10","UMLS:C2936741","MEDDRA:10048230","NCIT:C89801","SNOMEDCT:403760006","medgen:422434"],"information_content":100.0}
{"id":"MONDO:0015033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABeta amyloidosis, dutch type","equivalent_identifiers":["MONDO:0015033","orphanet:100006","UMLS:C2931672","SNOMEDCT:56453003","medgen:419468"],"information_content":100.0}
{"id":"MONDO:0015040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelodysplastic syndrome with excess blasts-1","equivalent_identifiers":["MONDO:0015040","orphanet:100019","UMLS:C1318550","MEDDRA:10088028","SNOMEDCT:397338009","SNOMEDCT:415283002","medgen:231145"],"information_content":100.0}
{"id":"MONDO:0015041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelodysplastic syndrome with excess blasts-2","equivalent_identifiers":["MONDO:0015041","orphanet:100020","UMLS:C4704767","UMLS:C5787513","MEDDRA:10088027","NCIT:C7168","SNOMEDCT:397339001","SNOMEDCT:415284008"],"information_content":88.2}
{"id":"MONDO:0015044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mu-heavy chain disease","equivalent_identifiers":["MONDO:0015044","DOID:0060128","orphanet:100024","UMLS:C0242310","NCIT:C3892","SNOMEDCT:61493004","medgen:66875","icd11.foundation:963887455"],"information_content":100.0}
{"id":"MONDO:0015045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-heavy chain disease","equivalent_identifiers":["MONDO:0015045","DOID:0060126","orphanet:100025","EFO:1001798","UMLS:C0021071","UMLS:C5209276","MESH:D007161","MEDDRA:10089864","MEDDRA:10089868","NCIT:C3132","SNOMEDCT:109982002","SNOMEDCT:109985000","SNOMEDCT:123313007","SNOMEDCT:27461004","medgen:7039","icd11.foundation:680227490","ICD10:C88.3","HP:0020194"],"information_content":100.0}
{"id":"MONDO:0015046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gamma-heavy chain disease","equivalent_identifiers":["MONDO:0015046","DOID:0060127","orphanet:100026","UMLS:C0018854","UMLS:C5209277","MEDDRA:10089861","MEDDRA:10089866","NCIT:C3083","SNOMEDCT:109984001","medgen:42374","icd11.foundation:705015637","HP:0020195"],"information_content":100.0}
{"id":"MONDO:0015047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 1","equivalent_identifiers":["MONDO:0015047","orphanet:100031","UMLS:C0399367","SNOMEDCT:109476006","medgen:97992"],"information_content":87.2}
{"id":"MONDO:0015048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 2","equivalent_identifiers":["MONDO:0015048","orphanet:100033","UMLS:C0399372","MESH:C536606","SNOMEDCT:109475005","medgen:97994"],"information_content":86.3}
{"id":"MONDO:0015053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary angioedema type 1","equivalent_identifiers":["MONDO:0015053","orphanet:100050","UMLS:C0398775","UMLS:C2717906","MEDDRA:10080956","SNOMEDCT:234619000","medgen:403466"],"information_content":100.0}
{"id":"MONDO:0015054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary angioedema type 2","equivalent_identifiers":["MONDO:0015054","orphanet:100051","UMLS:C0398776","SNOMEDCT:234620006","medgen:585077"],"information_content":100.0}
{"id":"MONDO:0015057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renin-angiotensin-aldosterone system-blocker-induced angioedema","equivalent_identifiers":["MONDO:0015057","orphanet:100057","UMLS:C1304495","MESH:C535293","SNOMEDCT:403607004","medgen:725846"],"information_content":95.4}
{"id":"MONDO:0015059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive non-fluent aphasia","equivalent_identifiers":["MONDO:0015059","DOID:0081390","orphanet:100070","UMLS:C0751706","MESH:D057178","NCIT:C85025","SNOMEDCT:716281000","medgen:148373"],"information_content":92.8}
{"id":"MONDO:0015061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurogenic thoracic outlet syndrome","equivalent_identifiers":["MONDO:0015061","orphanet:100073","UMLS:C0751549","SNOMEDCT:2040007","medgen:155880"],"information_content":100.0}
{"id":"MONDO:0015065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ileal neuroendocrine tumor, well differentiated, low or intermediate grade","equivalent_identifiers":["MONDO:0015065","orphanet:100078","UMLS:C4525628","NCIT:C135092","medgen:1611292"],"information_content":85.5}
{"id":"MONDO:0015066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade","equivalent_identifiers":["MONDO:0015066","orphanet:100079","UMLS:C3272767","NCIT:C96422","SNOMEDCT:1287196009","SNOMEDCT:725167001","medgen:474400","icd11.foundation:1590340268"],"information_content":80.9}
{"id":"MONDO:0015069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroendocrine tumor of the anal canal","equivalent_identifiers":["MONDO:0015069","orphanet:100082","UMLS:C3272849","NCIT:C96540","medgen:474482","icd11.foundation:1927831331"],"information_content":92.8}
{"id":"MONDO:0015070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0015070","DOID:5457","orphanet:100083","UMLS:C1334374","NCIT:C6023","SNOMEDCT:707625001","medgen:232692","icd11.foundation:1502591214"],"information_content":86.3}
{"id":"MONDO:0015071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"middle ear neuroendocrine tumor","equivalent_identifiers":["MONDO:0015071","orphanet:100084","UMLS:C4305468","SNOMEDCT:717918002","medgen:931137","icd11.foundation:1437498002"],"information_content":95.4}
{"id":"MONDO:0015072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liver neuroendocrine carcinoma","equivalent_identifiers":["MONDO:0015072","orphanet:100085","UMLS:C3273031","NCIT:C96787","SNOMEDCT:716652006","medgen:474664"],"information_content":92.8}
{"id":"MONDO:0015073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gallbladder neuroendocrine tumor, grade 1/2","equivalent_identifiers":["MONDO:0015073","orphanet:100086","UMLS:C3273116","NCIT:C96918","SNOMEDCT:1287711008","medgen:474749"],"information_content":89.4}
{"id":"MONDO:0015074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid tumor","equivalent_identifiers":["MONDO:0015074","orphanet:100087","EFO:0003841","UMLS:C0040136","MESH:D013964","MEDDRA:10029099","MEDDRA:10043743","MEDDRA:10043744","MEDDRA:10043746","MEDDRA:10043747","MEDDRA:10066913","MEDDRA:10066914","NCIT:C3414","SNOMEDCT:127018007","medgen:21546","HP:0100031"],"information_content":61.9}
{"id":"MONDO:0015075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid gland carcinoma","equivalent_identifiers":["MONDO:0015075","DOID:3963","orphanet:100088","EFO:0002892","UMLS:C0549473","UMLS:C3163939","MEDDRA:10007476","MEDDRA:10043702","MEDDRA:10043703","NCIT:C4815","SNOMEDCT:448216007","medgen:107811","HP:0002890"],"information_content":63.2}
{"id":"MONDO:0015082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia antibody deficiency","equivalent_identifiers":["MONDO:0015082","orphanet:1006","UMLS:C5190867","SNOMEDCT:783205005","medgen:1683018"],"information_content":100.0}
{"id":"MONDO:0015084","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FRAXF syndrome","equivalent_identifiers":["MONDO:0015084","orphanet:100974","UMLS:C4274329","SNOMEDCT:716708005","medgen:897295"],"information_content":100.0}
{"id":"MONDO:0015085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bathing suit ichthyosis","equivalent_identifiers":["MONDO:0015085","orphanet:100976","UMLS:C4511230","SNOMEDCT:725588002","medgen:1386460","icd11.foundation:174005370"],"information_content":100.0}
{"id":"MONDO:0015092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft hard palate","equivalent_identifiers":["MONDO:0015092","orphanet:101023","UMLS:C0432090","SNOMEDCT:448915004","medgen:609341","icd11.foundation:1047415764","HP:0410005"],"information_content":87.2}
{"id":"MONDO:0015093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sub-cortical nodular heterotopia","equivalent_identifiers":["MONDO:0015093","orphanet:101029","UMLS:C5681805","medgen:1843064","icd11.foundation:1683302159"],"information_content":100.0}
{"id":"MONDO:0015094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subependymal nodular heterotopia","equivalent_identifiers":["MONDO:0015094","orphanet:101030","UMLS:C3160906","MEDDRA:10071150","SNOMEDCT:699812002","medgen:781340","icd11.foundation:1752491379"],"information_content":100.0}
{"id":"MONDO:0015096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypofibrinogenemia","equivalent_identifiers":["MONDO:0015096","orphanet:101041","UMLS:C5681803","medgen:1826143"],"information_content":100.0}
{"id":"MONDO:0015099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"unilateral hemispheric polymicrogyria","equivalent_identifiers":["MONDO:0015099","orphanet:101071","UMLS:C5681804","medgen:1842283","icd11.foundation:1318599015"],"information_content":100.0}
{"id":"MONDO:0015104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porphyria cutanea tarda","equivalent_identifiers":["MONDO:0015104","DOID:3132","orphanet:101330","UMLS:C0162566","MESH:D017119","MEDDRA:10011665","MEDDRA:10036183","NCIT:C27725","SNOMEDCT:61860000","medgen:56453","icd11.foundation:370983230","ICD10:E80.1"],"information_content":87.2}
{"id":"MONDO:0015129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Addison Disease","equivalent_identifiers":["MONDO:0015129","DOID:13774","OMIM:240200","orphanet:101959","UMLS:C0001403","UMLS:C1868690","UMLS:C5848257","MESH:D000075262","MESH:D000224","MEDDRA:10001130","MEDDRA:10013096","MEDDRA:10036696","MEDDRA:10052381","MEDDRA:10085976","NCIT:C26689","SNOMEDCT:363732003","SNOMEDCT:373662000","medgen:1324","ICD10:E27.1","HP:0008207"],"information_content":78.0}
{"id":"MONDO:0015131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency","equivalent_identifiers":["MONDO:0015131","DOID:0111962","DOID:628","orphanet:101972","UMLS:C0494261","UMLS:C2711630","MEDDRA:10010098","MEDDRA:10010099","MEDDRA:10010100","NCIT:C27871","SNOMEDCT:442459007","medgen:751396","icd11.foundation:1616506198","ICD10:D81","ICD9:279.2","HP:0005387"],"information_content":70.2}
{"id":"MONDO:0015140","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset autosomal dominant Alzheimer disease","equivalent_identifiers":["MONDO:0015140","orphanet:1020"],"information_content":81.7}
{"id":"MONDO:0015146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic lissencephaly","equivalent_identifiers":["MONDO:0015146","orphanet:102009","UMLS:C0431375","NCIT:C84640","SNOMEDCT:253147000","medgen:98463","icd11.foundation:570001324","HP:0006818"],"information_content":89.4}
{"id":"MONDO:0015166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with t(8;21)(q22;q22) translocation","equivalent_identifiers":["MONDO:0015166","orphanet:102724","UMLS:C1292774","NCIT:C9288","SNOMEDCT:1148906001","SNOMEDCT:128828000","medgen:224862","icd11.foundation:1075154059"],"information_content":87.2}
{"id":"MONDO:0015167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ADAM COMPLEX","equivalent_identifiers":["MONDO:0015167","OMIM:217100","orphanet:295000","UMLS:C0002636","UMLS:C0220724","UMLS:C1857577","MESH:C531614","MESH:D000652","MEDDRA:10064100","NCIT:C84552","SNOMEDCT:440214006","SNOMEDCT:765206003","medgen:66322","icd11.foundation:1033549095"],"information_content":95.4}
{"id":"MONDO:0015169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic diarrhea due to glucoamylase deficiency","equivalent_identifiers":["MONDO:0015169","orphanet:103907","UMLS:C4275068","SNOMEDCT:716277000","medgen:898614","icd11.foundation:2084206046"],"information_content":100.0}
{"id":"MONDO:0015170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital sodium diarrhea","equivalent_identifiers":["MONDO:0015170","orphanet:103908","UMLS:C0267663","SNOMEDCT:18805001","medgen:78632"],"information_content":90.9}
{"id":"MONDO:0015171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital enterocyte heparan sulfate deficiency","equivalent_identifiers":["MONDO:0015171","orphanet:103910","UMLS:C4511238","SNOMEDCT:725591002","medgen:1373054"],"information_content":100.0}
{"id":"MONDO:0015177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metaphyseal anadysplasia","equivalent_identifiers":["MONDO:0015177","orphanet:1040","UMLS:C0432226","MESH:C537351","SNOMEDCT:254085009","medgen:96582","icd11.foundation:327336919"],"information_content":95.4}
{"id":"MONDO:0015191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathic intestinal pseudoobstruction","equivalent_identifiers":["MONDO:0015191","orphanet:104077","UMLS:C5681739","medgen:1843444","icd11.foundation:1007742014"],"information_content":100.0}
{"id":"MONDO:0015193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrops fetalis","equivalent_identifiers":["MONDO:0015193","orphanet:1041","UMLS:C0020305","MESH:D015160","MEDDRA:10020526","MEDDRA:10020529","NCIT:C84767","SNOMEDCT:276508000","medgen:6947","HP:0001789"],"information_content":88.2}
{"id":"MONDO:0015194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sideroblastic anemia","equivalent_identifiers":["MONDO:0015194","DOID:8955","orphanet:1047","UMLS:C0002896","UMLS:C4551661","MESH:D000756","MEDDRA:10002078","MEDDRA:10002312","MEDDRA:10040661","MEDDRA:10040662","MEDDRA:10040663","NCIT:C36078","SNOMEDCT:41841004","medgen:8067","ICD10:D64.3","ICD9:285.0","HP:0001924"],"information_content":81.3}
{"id":"MONDO:0015195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atresia of urethra","equivalent_identifiers":["MONDO:0015195","orphanet:105","UMLS:C0345345","UMLS:C1610065","MEDDRA:10064895","SNOMEDCT:253902002","medgen:576882","HP:0000068"],"information_content":90.9}
{"id":"MONDO:0015196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vein of Galen aneurysm","equivalent_identifiers":["MONDO:0015196","orphanet:1053","UMLS:C0431420","UMLS:C1562503","MESH:C536535","MESH:D054080","MEDDRA:10077889","NCIT:C98642","SNOMEDCT:253194008","SNOMEDCT:416792008","medgen:140912","icd11.foundation:1884295064","HP:0030713"],"information_content":100.0}
{"id":"MONDO:0015197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aneurysm of sinus of Valsalva","equivalent_identifiers":["MONDO:0015197","orphanet:1054","EFO:0010163","UMLS:C0265893","UMLS:C2062868","UMLS:C2239253","UMLS:C4476551","MEDDRA:10084035","SNOMEDCT:54160000","medgen:853730","icd11.foundation:364348641","HP:0011645"],"information_content":100.0}
{"id":"MONDO:0015198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia-ptosis-intellectual disability-familial obesity syndrome","equivalent_identifiers":["MONDO:0015198","orphanet:1067","UMLS:C4303736","SNOMEDCT:720987001","medgen:929405"],"information_content":100.0}
{"id":"MONDO:0015199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia - intellectual disability syndrome","equivalent_identifiers":["MONDO:0015199","orphanet:1068","UMLS:C2931243","MESH:C536568","SNOMEDCT:720468000","medgen:419752"],"information_content":100.0}
{"id":"MONDO:0015201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ankyloblepharon filiforme-imperforate anus syndrome","equivalent_identifiers":["MONDO:0015201","orphanet:1074","UMLS:C4751231","SNOMEDCT:773770009","medgen:1666000"],"information_content":100.0}
{"id":"MONDO:0015204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microlissencephaly","equivalent_identifiers":["MONDO:0015204","DOID:0112234","orphanet:1083","UMLS:C1956147","UMLS:C4021030","SNOMEDCT:1003374009","medgen:365439","icd11.foundation:169315445","HP:0045028"],"information_content":90.9}
{"id":"MONDO:0015205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated lissencephaly type 1 without known genetic defects","equivalent_identifiers":["MONDO:0015205","orphanet:1084","UMLS:C4275151","SNOMEDCT:715406003","medgen:895946","icd11.foundation:80358651"],"information_content":100.0}
{"id":"MONDO:0015228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pentasomy X","equivalent_identifiers":["MONDO:0015228","orphanet:11","UMLS:C0265497","UMLS:C2937419","MESH:C535319","MEDDRA:10082382","MEDDRA:10082711","NCIT:C89802","SNOMEDCT:43248007","medgen:423649","icd11.foundation:2087864894"],"information_content":100.0}
{"id":"MONDO:0015229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome","equivalent_identifiers":["MONDO:0015229","DOID:1935","OMIM.PS:209900","orphanet:110","UMLS:C0752166","MESH:D020788","MEDDRA:10048680","MEDDRA:10056715","NCIT:C118632","SNOMEDCT:5619004","medgen:156019","icd11.foundation:255526264"],"information_content":79.3}
{"id":"MONDO:0015230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome","equivalent_identifiers":["MONDO:0015230","orphanet:1101","UMLS:C4304035","SNOMEDCT:720495005","medgen:929704"],"information_content":100.0}
{"id":"MONDO:0015231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartter disease","equivalent_identifiers":["MONDO:0015231","DOID:445","OMIM.PS:601678","orphanet:112","UMLS:C0004775","MESH:D001477","MEDDRA:10050839","NCIT:C34412","SNOMEDCT:707742001","medgen:2172","icd11.foundation:777233947","ICD10:E26.81","ICD9:255.13"],"information_content":85.5}
{"id":"MONDO:0015233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"caudal appendage-deafness syndrome","equivalent_identifiers":["MONDO:0015233","orphanet:1123","UMLS:C2931593","MESH:C537713","SNOMEDCT:726621009","medgen:419843"],"information_content":100.0}
{"id":"MONDO:0015234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arachnodactyly-abnormal ossification-intellectual disability syndrome","equivalent_identifiers":["MONDO:0015234","orphanet:1129","UMLS:C2931398","MESH:C537024","SNOMEDCT:720501007","medgen:419792"],"information_content":100.0}
{"id":"MONDO:0015237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhinia","equivalent_identifiers":["MONDO:0015237","orphanet:1134","UMLS:C0265740","UMLS:C4280391","MESH:C537438","SNOMEDCT:111317000","medgen:120555","icd11.foundation:409489963","HP:0009927"],"information_content":100.0}
{"id":"MONDO:0015240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digitotalar dysmorphism","equivalent_identifiers":["MONDO:0015240","DOID:0111596","orphanet:1146","MESH:C565097","icd11.foundation:1679749810"],"information_content":90.9}
{"id":"MONDO:0015241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis-like syndrome","equivalent_identifiers":["MONDO:0015241","orphanet:1149","UMLS:C1859709","MESH:C538124","SNOMEDCT:702447002","medgen:349229"],"information_content":100.0}
{"id":"MONDO:0015243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"allergic bronchopulmonary aspergillosis","equivalent_identifiers":["MONDO:0015243","DOID:13166","OMIM:103920","orphanet:1164","EFO:0007140","UMLS:C0004031","UMLS:C3278302","MESH:D001229","MEDDRA:10001707","MEDDRA:10006474","NCIT:C84547","SNOMEDCT:37981002","medgen:479932","icd11.foundation:1591607082","ICD10:B44.81","ICD9:518.6"],"information_content":95.4}
{"id":"MONDO:0015247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"opsoclonus-myoclonus syndrome","equivalent_identifiers":["MONDO:0015247","orphanet:1183","EFO:1001383","UMLS:C0393626","MESH:D053578","NCIT:C4686","SNOMEDCT:230350000","medgen:97955"],"information_content":100.0}
{"id":"MONDO:0015248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia-photosensitivity-short stature syndrome","equivalent_identifiers":["MONDO:0015248","orphanet:1184","UMLS:C4751230","SNOMEDCT:773769008","medgen:1655873"],"information_content":100.0}
{"id":"MONDO:0015249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mitral atresia","equivalent_identifiers":["MONDO:0015249","orphanet:1205","UMLS:C0344760","MEDDRA:10066800","NCIT:C98992","SNOMEDCT:23063005","medgen:91035","icd11.foundation:6462604","HP:0011560"],"information_content":95.4}
{"id":"MONDO:0015252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome","equivalent_identifiers":["MONDO:0015252","orphanet:1236","UMLS:C5190778","SNOMEDCT:783005002","medgen:1682668"],"information_content":100.0}
{"id":"MONDO:0015253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia","equivalent_identifiers":["MONDO:0015253","DOID:1339","OMIM.PS:105650","orphanet:124","UMLS:C1260899","UMLS:C1542667","MESH:D029503","MEDDRA:10062988","MEDDRA:10062989","NCIT:C61236","SNOMEDCT:234371002","SNOMEDCT:88854002","medgen:266045","ICD10:D61.01","HP:0004810"],"information_content":79.3}
{"id":"MONDO:0015259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly-mesomelia-intellectual disability-heart defects syndrome","equivalent_identifiers":["MONDO:0015259","orphanet:1277","UMLS:C4707567","SNOMEDCT:765761009","medgen:1645467"],"information_content":100.0}
{"id":"MONDO:0015261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pseudopelade","equivalent_identifiers":["MONDO:0015261","orphanet:129","EFO:1002028","UMLS:C0086873","UMLS:C2936846","MEDDRA:10001764","MEDDRA:10083950","SNOMEDCT:238731001","SNOMEDCT:400088006","medgen:88640","ICD10:L66"],"information_content":100.0}
{"id":"MONDO:0015263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brugada syndrome","equivalent_identifiers":["MONDO:0015263","DOID:0050451","OMIM.PS:601144","orphanet:130","UMLS:C1142166","UMLS:C1721096","MESH:D053840","MEDDRA:10059027","NCIT:C142891","SNOMEDCT:418818005","medgen:222975","icd11.foundation:1250136584","ICD10:I49.8"],"information_content":84.8}
{"id":"MONDO:0015264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptogenic organizing pneumonia","equivalent_identifiers":["MONDO:0015264","DOID:0050157","orphanet:1302","EFO:1001300","UMLS:C0242770","MESH:D018549","MEDDRA:10006449","MEDDRA:10011496","MEDDRA:10066396","MEDDRA:10066847","NCIT:C62586","SNOMEDCT:129458007","SNOMEDCT:68409003","SNOMEDCT:719218000","medgen:116663","icd11.foundation:1937662238","ICD10:J84.116","ICD9:516.36","HP:0011945"],"information_content":100.0}
{"id":"MONDO:0015265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchiolitis obliterans syndrome","equivalent_identifiers":["MONDO:0015265","DOID:2799","orphanet:1303","EFO:0007183","UMLS:C0006272","UMLS:C2350875","MESH:D001989","MEDDRA:10029888","MEDDRA:10049202","NCIT:C62580","SNOMEDCT:40100001","medgen:665","icd11.foundation:592711730","HP:0011946"],"information_content":92.8}
{"id":"MONDO:0015267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Feingold syndrome","equivalent_identifiers":["MONDO:0015267","DOID:0060464","OMIM.PS:164280","orphanet:1305","UMLS:C0796068","MESH:C537734","MEDDRA:10086623","MEDDRA:10086632","MEDDRA:10086634","NCIT:C74987","medgen:163209"],"information_content":92.8}
{"id":"MONDO:0015268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"medullary sponge kidney","equivalent_identifiers":["MONDO:0015268","orphanet:1309","UMLS:C0022681","MESH:D007691","MEDDRA:10027104","MEDDRA:10089534","NCIT:C34751","SNOMEDCT:236443009","medgen:5970","icd11.foundation:1723148250"],"information_content":100.0}
{"id":"MONDO:0015269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symmetrical thalamic calcifications","equivalent_identifiers":["MONDO:0015269","orphanet:1314","UMLS:C4304914","SNOMEDCT:719164000","medgen:930583"],"information_content":100.0}
{"id":"MONDO:0015270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"butyrylcholinesterase deficiency","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0015270","OMIM:617936","orphanet:132","UMLS:C0268379","UMLS:C1283400","UMLS:C1622434","UMLS:C1867467","UMLS:C1867468","UMLS:C1867469","UMLS:C1867470","MESH:C537417","MESH:C566750","MESH:C566751","MEDDRA:10062674","SNOMEDCT:191397007","SNOMEDCT:360619001","medgen:220923","icd11.foundation:581237559"],"information_content":100.0}
{"id":"MONDO:0015271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Camptocormia","equivalent_identifiers":["MONDO:0015271","orphanet:1320","UMLS:C0264162","MESH:C537968","MEDDRA:10069646","MEDDRA:10082896","SNOMEDCT:13534001","medgen:120496","HP:0100595"],"information_content":100.0}
{"id":"MONDO:0015272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"camptodactyly-taurinuria syndrome","equivalent_identifiers":["MONDO:0015272","orphanet:1325","UMLS:C2931681","UMLS:C4518792","MESH:C537972","SNOMEDCT:733466005","medgen:419871"],"information_content":100.0}
{"id":"MONDO:0015273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complete atrioventricular canal","equivalent_identifiers":["MONDO:0015273","orphanet:1329","UMLS:C0221215","MESH:C535974","NCIT:C186234","SNOMEDCT:360481003","medgen:65132","HP:0001674"],"information_content":90.9}
{"id":"MONDO:0015274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"berylliosis","equivalent_identifiers":["MONDO:0015274","DOID:10322","orphanet:133","EFO:0007168","UMLS:C0005138","UMLS:C0221052","MESH:D001607","MEDDRA:10004485","NCIT:C197848","SNOMEDCT:18121009","SNOMEDCT:8247009","medgen:67440","icd11.foundation:212013370","ICD10:J63.2"],"information_content":100.0}
{"id":"MONDO:0015275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial atrioventricular canal","equivalent_identifiers":["MONDO:0015275","orphanet:1330","UMLS:C4023290","MESH:C536112","SNOMEDCT:718216009","medgen:868879","HP:0011577"],"information_content":100.0}
{"id":"MONDO:0015277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"medullary thyroid gland carcinoma","equivalent_identifiers":["MONDO:0015277","DOID:3973","orphanet:1332","UMLS:C0238462","UMLS:C0334379","MESH:C536914","MEDDRA:10027101","MEDDRA:10027105","NCIT:C3879","NCIT:C4193","SNOMEDCT:128916007","SNOMEDCT:1332275004","SNOMEDCT:255032005","medgen:66772","icd11.foundation:578519098","HP:0002865"],"information_content":76.0}
{"id":"MONDO:0015278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial pancreatic carcinoma","equivalent_identifiers":["MONDO:0015278","OMIM:260350","orphanet:1333","UMLS:C2931038","UMLS:C4255450","UMLS:C5779842","MESH:C535837","NCIT:C43298","SNOMEDCT:715414009","medgen:419700","icd11.foundation:1385362916"],"information_content":100.0}
{"id":"MONDO:0015279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic mucocutaneous candidiasis","equivalent_identifiers":["MONDO:0015279","DOID:2058","OMIM.PS:114580","orphanet:1334","UMLS:C0006845","MESH:D002178","MEDDRA:10009007","NCIT:C34444","SNOMEDCT:234568006","medgen:2426","icd11.foundation:2120780687","HP:0002728"],"information_content":83.1}
{"id":"MONDO:0015280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiofaciocutaneous syndrome","equivalent_identifiers":["MONDO:0015280","DOID:0060233","OMIM.PS:115150","orphanet:1340","UMLS:C1275081","MESH:C535579","MEDDRA:10082805","MEDDRA:10082855","NCIT:C84617","SNOMEDCT:403770008","medgen:266149"],"information_content":89.4}
{"id":"MONDO:0015281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial standstill","equivalent_identifiers":["MONDO:0015281","orphanet:1344","UMLS:C0541782","MESH:C563984","MEDDRA:10003108","MEDDRA:10003116","MEDDRA:10003655","MEDDRA:10040738","MEDDRA:10068645","MEDDRA:10087237","MEDDRA:10087245","NCIT:C62242","SNOMEDCT:450919004","SNOMEDCT:5609005","medgen:639047","icd11.foundation:483869734","HP:0025478"],"information_content":92.8}
{"id":"MONDO:0015282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy-cataract-hip spine disease syndrome","equivalent_identifiers":["MONDO:0015282","orphanet:1345","UMLS:C2931548","MESH:C537616","SNOMEDCT:720609003","medgen:419439"],"information_content":100.0}
{"id":"MONDO:0015283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternally-inherited cardiomyopathy and hearing loss","equivalent_identifiers":["MONDO:0015283","orphanet:1349","UMLS:C4510409","SNOMEDCT:724173009","medgen:1376897"],"information_content":100.0}
{"id":"MONDO:0015284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart-hand syndrome type 2","equivalent_identifiers":["MONDO:0015284","orphanet:1350","UMLS:C2931323","MESH:C536784","SNOMEDCT:721010003","medgen:444030","icd11.foundation:2111612055"],"information_content":100.0}
{"id":"MONDO:0015285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carney complex","equivalent_identifiers":["MONDO:0015285","DOID:0050471","orphanet:1359","UMLS:C0406810","MESH:D056733","MEDDRA:10076601","MEDDRA:10084246","MEDDRA:10084248","NCIT:C4705","SNOMEDCT:733491005","medgen:140810","icd11.foundation:1051158630"],"information_content":85.5}
{"id":"MONDO:0015290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurotrophic keratopathy","equivalent_identifiers":["MONDO:0015290","orphanet:137596","UMLS:C0339296","MEDDRA:10069732","MEDDRA:10088320","SNOMEDCT:128080005","medgen:87384","icd11.foundation:1257534118"],"information_content":100.0}
{"id":"MONDO:0015291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stromal keratitis","equivalent_identifiers":["MONDO:0015291","orphanet:137599","UMLS:C1318020","medgen:727306","icd11.foundation:1665288755"],"information_content":100.0}
{"id":"MONDO:0015293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome","equivalent_identifiers":["MONDO:0015293","orphanet:137608","UMLS:C4706610","SNOMEDCT:763867001","medgen:1637405"],"information_content":100.0}
{"id":"MONDO:0015299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Asherman syndrome","equivalent_identifiers":["MONDO:0015299","orphanet:137686","UMLS:C0156372","MEDDRA:10053868","MEDDRA:10053914","MEDDRA:10062838","SNOMEDCT:48236007","medgen:57629","icd11.foundation:2022431339","HP:0030712"],"information_content":100.0}
{"id":"MONDO:0015300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract - microcornea syndrome","equivalent_identifiers":["MONDO:0015300","orphanet:1377","UMLS:C1861829","MESH:C538287","SNOMEDCT:722382006"],"information_content":100.0}
{"id":"MONDO:0015304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arachnoiditis","equivalent_identifiers":["MONDO:0015304","DOID:12156","orphanet:137817","UMLS:C0003708","UMLS:C0270617","MESH:D001100","MEDDRA:10001285","MEDDRA:10003073","MEDDRA:10003074","NCIT:C37913","SNOMEDCT:13980006","SNOMEDCT:8217007","medgen:8175","icd11.foundation:414817254","ICD10:G03"],"information_content":95.4}
{"id":"MONDO:0015307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Madras motor neuron disease","equivalent_identifiers":["MONDO:0015307","orphanet:137867","UMLS:C0393551","SNOMEDCT:230255008","medgen:581442","icd11.foundation:1764644031"],"information_content":100.0}
{"id":"MONDO:0015313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choanal atresia, bilateral","equivalent_identifiers":["MONDO:0015313","orphanet:137920","UMLS:C4025317","SNOMEDCT:890382007","medgen:870857","icd11.foundation:1138913171","HP:0004502"],"information_content":95.4}
{"id":"MONDO:0015317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngotracheal angioma","equivalent_identifiers":["MONDO:0015317","orphanet:137935","UMLS:C3274531","UMLS:C3839574","NCIT:C99086","SNOMEDCT:703199001","medgen:825419"],"information_content":100.0}
{"id":"MONDO:0015324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract-intellectual disability-anal atresia-urinary defects syndrome","equivalent_identifiers":["MONDO:0015324","orphanet:1381","UMLS:C2931391","MESH:C537009","SNOMEDCT:715989002","medgen:419068"],"information_content":100.0}
{"id":"MONDO:0015325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract-deafness-hypogonadism syndrome","equivalent_identifiers":["MONDO:0015325","orphanet:1383","UMLS:C2931269","MESH:C536626","SNOMEDCT:722378009","medgen:419760"],"information_content":100.0}
{"id":"MONDO:0015326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"night blindness-skeletal anomalies-dysmorphism syndrome","equivalent_identifiers":["MONDO:0015326","orphanet:1390","UMLS:C5679607","SNOMEDCT:1237228009","medgen:1814437"],"information_content":100.0}
{"id":"MONDO:0015339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenomyeloneuropathy","equivalent_identifiers":["MONDO:0015339","orphanet:139399","UMLS:C1527231","MEDDRA:10088201","SNOMEDCT:1269423000","SNOMEDCT:65389002","medgen:315918","icd11.foundation:1214673956"],"information_content":100.0}
{"id":"MONDO:0015340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug rash with eosinophilia and systemic symptoms","equivalent_identifiers":["MONDO:0015340","orphanet:139402","EFO:1002004","UMLS:C3541994","MESH:D063926","MEDDRA:10058899","MEDDRA:10058919","MEDDRA:10059724","MEDDRA:10073508","NCIT:C112208","SNOMEDCT:702809001","medgen:762193","icd11.foundation:516577496"],"information_content":92.8}
{"id":"MONDO:0015341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital panfollicular nevus","equivalent_identifiers":["MONDO:0015341","orphanet:139414","UMLS:C4476799","SNOMEDCT:770940006","medgen:1381094","HP:0025471"],"information_content":100.0}
{"id":"MONDO:0015342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute transverse myelitis","equivalent_identifiers":["MONDO:0015342","orphanet:139417","UMLS:C0270627","MESH:D009188","NCIT:C128378","SNOMEDCT:47000000","medgen:82847"],"information_content":92.8}
{"id":"MONDO:0015345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"perioral myoclonia with absences","equivalent_identifiers":["MONDO:0015345","orphanet:139426","UMLS:C4707846","SNOMEDCT:766815007","medgen:1637328","icd11.foundation:1067045592"],"information_content":100.0}
{"id":"MONDO:0015346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy with eyelid myoclonia","equivalent_identifiers":["MONDO:0015346","orphanet:139431","UMLS:C4274731","MEDDRA:10084303","SNOMEDCT:716278005","medgen:901966","icd11.foundation:262814036"],"information_content":100.0}
{"id":"MONDO:0015347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multicentric reticulohistiocytosis","equivalent_identifiers":["MONDO:0015347","DOID:11824","orphanet:139436","UMLS:C0311284","MEDDRA:10070595","NCIT:C27896","SNOMEDCT:84241008","medgen:86315","icd11.foundation:977116795","ICD10:E78.81"],"information_content":100.0}
{"id":"MONDO:0015348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy with bilateral anterior temporal lobe cysts","equivalent_identifiers":["MONDO:0015348","orphanet:139444","UMLS:C4304744","SNOMEDCT:719403003","medgen:930413","icd11.foundation:138159250"],"information_content":100.0}
{"id":"MONDO:0015349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive cavitating leukoencephalopathy","equivalent_identifiers":["MONDO:0015349","orphanet:139447","UMLS:C4304840","SNOMEDCT:719267003","medgen:930509","icd11.foundation:340540374"],"information_content":100.0}
{"id":"MONDO:0015350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"17q11.2 microduplication syndrome","equivalent_identifiers":["MONDO:0015350","OMIM:618874","orphanet:139474","UMLS:C3495679","MESH:C567173","SNOMEDCT:719583002","medgen:501218"],"information_content":100.0}
{"id":"MONDO:0015351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy with hearing impairment","equivalent_identifiers":["MONDO:0015351","orphanet:139512","UMLS:C4509933","SNOMEDCT:723497003","medgen:1375726","icd11.foundation:129297527"],"information_content":100.0}
{"id":"MONDO:0015352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal hereditary motor neuropathy type 2","equivalent_identifiers":["MONDO:0015352","DOID:0111206","orphanet:139525","UMLS:C3711384","MESH:C580044","medgen:777992","icd11.foundation:152961055"],"information_content":89.4}
{"id":"MONDO:0015353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 5A","equivalent_identifiers":["MONDO:0015353","OMIM:600794"],"information_content":100.0}
{"id":"MONDO:0015355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal hereditary motor neuropathy type 7","equivalent_identifiers":["MONDO:0015355","DOID:0111199","orphanet:139589","UMLS:C4749653","SNOMEDCT:771081007","medgen:1662655","icd11.foundation:80361835"],"information_content":92.8}
{"id":"MONDO:0015357","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary hypoparathyroidism due to impaired parathormon secretion","equivalent_identifiers":["MONDO:0015357","orphanet:140286","UMLS:C4305428","SNOMEDCT:717895004","medgen:931097","icd11.foundation:1229357339"],"information_content":100.0}
{"id":"MONDO:0015367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charlie M syndrome","equivalent_identifiers":["MONDO:0015367","orphanet:1406","UMLS:C4518555","SNOMEDCT:733034007","medgen:1379887","icd11.foundation:1284734481"],"information_content":100.0}
{"id":"MONDO:0015371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"linear atrophoderma of Moulin","equivalent_identifiers":["MONDO:0015371","orphanet:140933","UMLS:C1274753","SNOMEDCT:403395007","medgen:698076","icd11.foundation:1116101506"],"information_content":100.0}
{"id":"MONDO:0015372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant macrothrombocytopenia","equivalent_identifiers":["MONDO:0015372","orphanet:140957","UMLS:C4304021","SNOMEDCT:720521008","medgen:929690"],"information_content":90.9}
{"id":"MONDO:0015374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary central nervous system vasculitis","equivalent_identifiers":["MONDO:0015374","orphanet:140989","UMLS:C0338589","UMLS:C2930862","MESH:C535276","MESH:C537295","MEDDRA:10089654","MEDDRA:10089656","SNOMEDCT:230734005","SNOMEDCT:699814001","medgen:419271"],"information_content":95.4}
{"id":"MONDO:0015387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasolacrimal duct cyst","equivalent_identifiers":["MONDO:0015387","orphanet:141083","UMLS:C5575612","SNOMEDCT:1230269002","medgen:1810477"],"information_content":100.0}
{"id":"MONDO:0015388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyrrhinia","equivalent_identifiers":["MONDO:0015388","orphanet:141091","UMLS:C4274730","SNOMEDCT:716279002","medgen:894825","icd11.foundation:142812177"],"information_content":100.0}
{"id":"MONDO:0015389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"supernumerary nostril","equivalent_identifiers":["MONDO:0015389","orphanet:141096","UMLS:C4021372","SNOMEDCT:719163006","medgen:867014","icd11.foundation:306735786","HP:0009934"],"information_content":100.0}
{"id":"MONDO:0015390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proboscis lateralis","equivalent_identifiers":["MONDO:0015390","orphanet:141099","UMLS:C4274985","SNOMEDCT:715828006","medgen:900031","icd11.foundation:646148612"],"information_content":100.0}
{"id":"MONDO:0015397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofacial microsomia","equivalent_identifiers":["MONDO:0015397","DOID:2907","OMIM.PS:164210","orphanet:141132","UMLS:C0265240","MESH:D006053","MEDDRA:10050349","MEDDRA:10051934","NCIT:C84740","SNOMEDCT:1010685005","SNOMEDCT:109393007","SNOMEDCT:205418005","SNOMEDCT:254026007","SNOMEDCT:367462009","SNOMEDCT:703973009","medgen:75554"],"information_content":92.8}
{"id":"MONDO:0015403","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-involuting congenital hemangioma","equivalent_identifiers":["MONDO:0015403","orphanet:141179","UMLS:C1275417","NCIT:C172208","SNOMEDCT:399973007","SNOMEDCT:703295003","medgen:698685"],"information_content":100.0}
{"id":"MONDO:0015404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rapidly involuting congenital hemangioma","equivalent_identifiers":["MONDO:0015404","DOID:0080895","orphanet:141184","UMLS:C1275421","NCIT:C172207","SNOMEDCT:400162006","SNOMEDCT:703294004","medgen:698687"],"information_content":100.0}
{"id":"MONDO:0015411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial cleft","equivalent_identifiers":["MONDO:0015411","orphanet:141229","UMLS:C0685787","NCIT:C124510","SNOMEDCT:92821006","medgen:146898","icd11.foundation:11389088","HP:0002006"],"information_content":78.8}
{"id":"MONDO:0015419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"midline cervical cleft","equivalent_identifiers":["MONDO:0015419","orphanet:141288","UMLS:C4479645","MESH:C000719407","SNOMEDCT:403557001","medgen:1374384","icd11.foundation:1138096311","HP:0033645"],"information_content":100.0}
{"id":"MONDO:0015420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft lip and alveolus","equivalent_identifiers":["MONDO:0015420","orphanet:141291","UMLS:C1298692","SNOMEDCT:373643003","medgen:720590","icd11.foundation:1653169553"],"information_content":95.4}
{"id":"MONDO:0015425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal recessive chondrodysplasia","equivalent_identifiers":["MONDO:0015425","orphanet:1423","UMLS:C4304745","SNOMEDCT:719404009","medgen:930414","icd11.foundation:550352998"],"information_content":100.0}
{"id":"MONDO:0015426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Desbuquois dysplasia","equivalent_identifiers":["MONDO:0015426","DOID:0060462","OMIM.PS:251450","orphanet:1425","UMLS:C0432242","MESH:C535943","NCIT:C124056","SNOMEDCT:254099008","medgen:98479"],"information_content":92.8}
{"id":"MONDO:0015427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal dyskinesia","equivalent_identifiers":["MONDO:0015427","orphanet:1431","UMLS:C1851936","MEDDRA:10065657","SNOMEDCT:49949003","medgen:156242","HP:0007098"],"information_content":84.2}
{"id":"MONDO:0015428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroidal atrophy-alopecia syndrome","equivalent_identifiers":["MONDO:0015428","orphanet:1433","UMLS:C2931026","MESH:C535810","SNOMEDCT:720850008","medgen:419316"],"information_content":100.0}
{"id":"MONDO:0015430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 1","equivalent_identifiers":["MONDO:0015430","orphanet:1437","UMLS:C0265395","UMLS:C1519099","MESH:C535361","SNOMEDCT:47017007","medgen:539215"],"information_content":100.0}
{"id":"MONDO:0015431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 10","equivalent_identifiers":["MONDO:0015431","orphanet:1438","UMLS:C0265438","UMLS:C2931727","MESH:C538086","SNOMEDCT:86997002","medgen:539252"],"information_content":100.0}
{"id":"MONDO:0015432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 12","equivalent_identifiers":["MONDO:0015432","orphanet:1439","UMLS:C0795843","MESH:C538298","medgen:162879"],"information_content":100.0}
{"id":"MONDO:0015433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 17","equivalent_identifiers":["MONDO:0015433","orphanet:1441","UMLS:C2931714","MESH:C538046","medgen:419477"],"information_content":100.0}
{"id":"MONDO:0015434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 18","equivalent_identifiers":["MONDO:0015434","orphanet:1442","UMLS:C0265475","UMLS:C2931809","MESH:C538304","NCIT:C175706","SNOMEDCT:88154004","medgen:539285"],"information_content":100.0}
{"id":"MONDO:0015435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 19","equivalent_identifiers":["MONDO:0015435","orphanet:1443","UMLS:C0795869","UMLS:C2931812","MESH:C538310","SNOMEDCT:765484001","medgen:419501"],"information_content":100.0}
{"id":"MONDO:0015436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 20","equivalent_identifiers":["MONDO:0015436","DOID:0070622","orphanet:1444","UMLS:C0265482","MESH:C580424","NCIT:C169001","SNOMEDCT:23686004","medgen:489853"],"information_content":100.0}
{"id":"MONDO:0015437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 21","equivalent_identifiers":["MONDO:0015437","orphanet:1445","UMLS:C0265487","UMLS:C2931422","MESH:C537109","NCIT:C186278","SNOMEDCT:31325007","medgen:419409"],"information_content":100.0}
{"id":"MONDO:0015438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 22","equivalent_identifiers":["MONDO:0015438","orphanet:1446","UMLS:C0265492","UMLS:C2931325","MESH:C536795","NCIT:C179702","SNOMEDCT:13555004","medgen:539299"],"information_content":100.0}
{"id":"MONDO:0015439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ROSE Cluster 4","equivalent_identifiers":["MONDO:0015439","orphanet:1447","UMLS:C0265407","UMLS:C4049710","MESH:C537636","NCIT:C121983","SNOMEDCT:81678004","medgen:75571"],"information_content":100.0}
{"id":"MONDO:0015440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ROSE Cluster 6","equivalent_identifiers":["MONDO:0015440","orphanet:1448","UMLS:C0795814","UMLS:C4054130","MESH:C537763","NCIT:C121985","SNOMEDCT:765488003","medgen:167069"],"information_content":100.0}
{"id":"MONDO:0015441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ROSE Cluster 7","equivalent_identifiers":["MONDO:0015441","orphanet:1449","UMLS:C0795818","UMLS:C2931622","UMLS:C4050315","MESH:C537813","NCIT:C121986","SNOMEDCT:765489006","medgen:419454"],"information_content":100.0}
{"id":"MONDO:0015443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ROSE Cluster 8","equivalent_identifiers":["MONDO:0015443","orphanet:1450","UMLS:C2931633","UMLS:C4054129","UMLS:C4274902","MESH:C537824","NCIT:C121988","NCIT:C175705","SNOMEDCT:715983001","medgen:895673"],"information_content":100.0}
{"id":"MONDO:0015447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"differentiated thyroid carcinoma","equivalent_identifiers":["MONDO:0015447","DOID:0080525","orphanet:146","EFO:1002017","UMLS:C1337013","NCIT:C7153","SNOMEDCT:1255086008","medgen:277876"],"information_content":67.2}
{"id":"MONDO:0015448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex III deficiency","equivalent_identifiers":["MONDO:0015448","DOID:0111139","orphanet:1460","UMLS:C1852372","SNOMEDCT:709414007","medgen:377658"],"information_content":82.6}
{"id":"MONDO:0015449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"criss-cross heart","equivalent_identifiers":["MONDO:0015449","orphanet:1461","UMLS:C0010334","MESH:D003420","SNOMEDCT:253269002","medgen:8181"],"information_content":100.0}
{"id":"MONDO:0015450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triatrial heart","equivalent_identifiers":["MONDO:0015450","orphanet:1463","UMLS:C0009995","UMLS:C4023708","MESH:D003310","MEDDRA:10010972","NCIT:C84651","SNOMEDCT:55510008","medgen:3238","ICD10:Q24.2","HP:0010774"],"information_content":92.8}
{"id":"MONDO:0015451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"univentricular heart","equivalent_identifiers":["MONDO:0015451","orphanet:1464","UMLS:C0344622","MESH:D000080039","MEDDRA:10082665","SNOMEDCT:253283000","medgen:488862","icd11.foundation:1786413029","HP:0011555"],"information_content":95.4}
{"id":"MONDO:0015452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coffin-Siris syndrome","equivalent_identifiers":["MONDO:0015452","DOID:1925","OMIM.PS:135900","orphanet:1465","UMLS:C0265338","MESH:C536436","MEDDRA:10083941","NCIT:C35321","SNOMEDCT:10007009","medgen:75565","icd11.foundation:734451870"],"information_content":83.6}
{"id":"MONDO:0015453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cogan syndrome","equivalent_identifiers":["MONDO:0015453","DOID:0060216","orphanet:1467","UMLS:C0271270","MESH:D055952","MEDDRA:10056667","SNOMEDCT:405810005","medgen:82871","icd11.foundation:2098089327","ICD10:H16.32"],"information_content":100.0}
{"id":"MONDO:0015458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome","equivalent_identifiers":["MONDO:0015458","orphanet:1495","UMLS:C4302530","SNOMEDCT:722455002","medgen:928199"],"information_content":100.0}
{"id":"MONDO:0015459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasopharyngeal carcinoma","inheritance":"Polygenic inheritance","equivalent_identifiers":["MONDO:0015459","DOID:9261","OMIM:607107","orphanet:150","UMLS:C0153393","UMLS:C0153394","UMLS:C0153395","UMLS:C0153396","UMLS:C0238301","UMLS:C1846758","UMLS:C2931822","MESH:D00007727","MESH:D000077274","MEDDRA:10025703","MEDDRA:10026057","MEDDRA:10026371","MEDDRA:10026507","MEDDRA:10028793","NCIT:C194054","NCIT:C194055","NCIT:C194056","NCIT:C194057","NCIT:C3871","SNOMEDCT:187693006","SNOMEDCT:187700006","SNOMEDCT:363398003","SNOMEDCT:449248000","SNOMEDCT:709031009","medgen:419909","icd11.foundation:1883313543","ICD10:C11","ICD10:C11.0","ICD10:C11.1","ICD10:C11.2","ICD10:C11.3","ICD9:147","ICD9:147.0","ICD9:147.1","ICD9:147.2","ICD9:147.3"],"information_content":72.1}
{"id":"MONDO:0015462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thin ribs-tubular bones-dysmorphism syndrome","equivalent_identifiers":["MONDO:0015462","orphanet:1506","UMLS:C2931543","MESH:C537595","SNOMEDCT:783004003","medgen:419105"],"information_content":100.0}
{"id":"MONDO:0015463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniodigital syndrome-intellectual disability syndrome","equivalent_identifiers":["MONDO:0015463","orphanet:1514","UMLS:C1839311","MESH:C537528","SNOMEDCT:763665007","medgen:333293"],"information_content":100.0}
{"id":"MONDO:0015464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofrontonasal dysplasia-Poland anomaly syndrome","equivalent_identifiers":["MONDO:0015464","orphanet:1521","UMLS:C4303859","SNOMEDCT:720757001","medgen:929528"],"information_content":100.0}
{"id":"MONDO:0015465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniometaphyseal dysplasia","equivalent_identifiers":["MONDO:0015465","DOID:0080033","OMIM.PS:123000","orphanet:1522","UMLS:C0265292","MESH:C537519","SNOMEDCT:36601008","medgen:82702","icd11.foundation:305860050"],"information_content":89.4}
{"id":"MONDO:0015466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranio-osteoarthropathy","equivalent_identifiers":["MONDO:0015466","orphanet:1525","UMLS:C2678439","UMLS:C2930922","MESH:C535519","SNOMEDCT:720753002","medgen:394824","icd11.foundation:225223076"],"information_content":100.0}
{"id":"MONDO:0015467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis, Philadelphia type","equivalent_identifiers":["MONDO:0015467","orphanet:1527","UMLS:C1832590","MESH:C563368","SNOMEDCT:720818003","medgen:321988","icd11.foundation:234032200"],"information_content":100.0}
{"id":"MONDO:0015469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis","equivalent_identifiers":["MONDO:0015469","DOID:2340","OMIM.PS:123100","orphanet:1531","UMLS:C0010278","UMLS:C4759713","MESH:D003398","MEDDRA:10025530","MEDDRA:10040963","MEDDRA:10049889","MEDDRA:10062348","NCIT:C84655","medgen:1163","icd11.foundation:458033798","ICD10:Q75.0","HP:0001363"],"information_content":69.0}
{"id":"MONDO:0015473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptorchidism-arachnodactyly-intellectual disability syndrome","equivalent_identifiers":["MONDO:0015473","orphanet:1548","UMLS:C4707233","SNOMEDCT:764950001","medgen:1647147"],"information_content":100.0}
{"id":"MONDO:0015479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"submucosal cleft palate","equivalent_identifiers":["MONDO:0015479","orphanet:155878","UMLS:C0432103","UMLS:C4020894","SNOMEDCT:43437003","medgen:98472","icd11.foundation:1848627578","HP:0000176"],"information_content":95.4}
{"id":"MONDO:0015480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma of superior eyelid","equivalent_identifiers":["MONDO:0015480","orphanet:155884","UMLS:C1863872","SNOMEDCT:763132003","medgen:350283","HP:0000636"],"information_content":100.0}
{"id":"MONDO:0015481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coloboma of inferior eyelid","equivalent_identifiers":["MONDO:0015481","orphanet:155889","UMLS:C1837826","SNOMEDCT:763133008","medgen:373417","HP:0000652"],"information_content":100.0}
{"id":"MONDO:0015484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cysticercosis","equivalent_identifiers":["MONDO:0015484","DOID:10079","orphanet:1560","EFO:0007231","UMLS:C0010678","MESH:D003551","MEDDRA:10011757","MEDDRA:10011775","NCIT:C34520","SNOMEDCT:105684008","SNOMEDCT:59051007","medgen:4122","icd11.foundation:1324863907","ICD10:B69","ICD9:123.1"],"information_content":100.0}
{"id":"MONDO:0015486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconus","equivalent_identifiers":["MONDO:0015486","DOID:10126","OMIM.PS:148300","UMLS:C0022578","MESH:D007640","MEDDRA:10023353","MEDDRA:10023356","NCIT:C26806","SNOMEDCT:65636009","medgen:44015","icd11.foundation:945228622","ICD10:H18.6","ICD9:371.6","HP:0000563"],"information_content":83.6}
{"id":"MONDO:0015487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatal infantile encephalocardiomyopathy","equivalent_identifiers":["MONDO:0015487","DOID:0050713","orphanet:1561","UMLS:C4273730","SNOMEDCT:718124006","medgen:903874"],"information_content":89.4}
{"id":"MONDO:0015496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macroglossia","equivalent_identifiers":["MONDO:0015496","orphanet:156207","UMLS:C0024421","MESH:D008260","NCIT:C84832","SNOMEDCT:25273001","medgen:44236","icd11.foundation:670519908","HP:0000158"],"information_content":90.9}
{"id":"MONDO:0015515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carnitine palmitoyltransferase II deficiency","equivalent_identifiers":["MONDO:0015515","DOID:0060235","orphanet:157","UMLS:C0342790","MESH:C535589","NCIT:C114766","SNOMEDCT:238002005","medgen:137978","icd11.foundation:204058632"],"information_content":90.9}
{"id":"MONDO:0015516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symbrachydactyly of hands and feet","equivalent_identifiers":["MONDO:0015516","orphanet:1570","UMLS:C2931719","MESH:C538062","medgen:419146","icd11.foundation:159463685"],"information_content":92.8}
{"id":"MONDO:0015517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"common variable immunodeficiency","equivalent_identifiers":["MONDO:0015517","DOID:12177","OMIM:607594","UMLS:C0009447","UMLS:C3149378","MESH:D017074","MEDDRA:10010112","MEDDRA:10021449","MEDDRA:10036670","MEDDRA:10036671","SNOMEDCT:191010004","ICD10:D83","ICD9:279.06"],"information_content":80.9}
{"id":"MONDO:0015519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital or early infantile CACH syndrome","equivalent_identifiers":["MONDO:0015519","orphanet:157713","UMLS:C5680650","medgen:1842419","icd11.foundation:2136523495"],"information_content":100.0}
{"id":"MONDO:0015520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late infantile CACH syndrome","equivalent_identifiers":["MONDO:0015520","orphanet:157716","UMLS:C5680648","medgen:1826172","icd11.foundation:1635638032"],"information_content":100.0}
{"id":"MONDO:0015521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile or adult CACH syndrome","equivalent_identifiers":["MONDO:0015521","orphanet:157719","UMLS:C5680649","medgen:1826173","icd11.foundation:1400114953"],"information_content":100.0}
{"id":"MONDO:0015523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelioid hemangioendothelioma","equivalent_identifiers":["MONDO:0015523","DOID:0080190","orphanet:157791","UMLS:C0206732","UMLS:C0334538","MESH:D018323","MEDDRA:10079873","MEDDRA:10079874","NCIT:C3800","SNOMEDCT:403981003","SNOMEDCT:54124005","medgen:569676"],"information_content":79.9}
{"id":"MONDO:0015526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cold-induced sweating syndrome","equivalent_identifiers":["MONDO:0015526","DOID:0060294","OMIM.PS:272430","orphanet:157820","UMLS:C1832409","SNOMEDCT:702363009","medgen:321950","icd11.foundation:1884908195"],"information_content":90.9}
{"id":"MONDO:0015529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal Hemicrania","equivalent_identifiers":["MONDO:0015529","orphanet:157835","EFO:1001822","UMLS:C1399352","MESH:D051302","SNOMEDCT:443094001","medgen:235603","icd11.foundation:959737563"],"information_content":100.0}
{"id":"MONDO:0015532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized eruptive histiocytosis","equivalent_identifiers":["MONDO:0015532","orphanet:157991","UMLS:C0347404","SNOMEDCT:110980006","medgen:578001"],"information_content":100.0}
{"id":"MONDO:0015533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign cephalic histiocytosis","equivalent_identifiers":["MONDO:0015533","orphanet:157997","UMLS:C0347403","SNOMEDCT:255192005","medgen:578000","icd11.foundation:339468256"],"information_content":100.0}
{"id":"MONDO:0015534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile xanthogranuloma","equivalent_identifiers":["MONDO:0015534","DOID:4424","orphanet:158000","EFO:1000311","UMLS:C0043324","UMLS:C5887061","MESH:D014972","MEDDRA:10089466","NCIT:C3451","SNOMEDCT:400031009","SNOMEDCT:400204000","medgen:12179","icd11.foundation:98595592"],"information_content":92.8}
{"id":"MONDO:0015535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xanthoma disseminatum","equivalent_identifiers":["MONDO:0015535","orphanet:158003","UMLS:C0043322","MEDDRA:10013454","MEDDRA:10052575","SNOMEDCT:399970005","medgen:12178","icd11.foundation:1785140754"],"information_content":100.0}
{"id":"MONDO:0015536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papular xanthoma","equivalent_identifiers":["MONDO:0015536","orphanet:158008","UMLS:C4707373","SNOMEDCT:765221009","medgen:1636485","icd11.foundation:1137782407"],"information_content":100.0}
{"id":"MONDO:0015539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive nodular histiocytosis","equivalent_identifiers":["MONDO:0015539","orphanet:158022","UMLS:C4707331","SNOMEDCT:765141005","medgen:1647278","icd11.foundation:1576286064"],"information_content":100.0}
{"id":"MONDO:0015541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary hemophagocytic lymphohistiocytosis","equivalent_identifiers":["MONDO:0015541","OMIM.PS:267700","orphanet:540","UMLS:C0272199","MEDDRA:10070904","MEDDRA:10070916","MEDDRA:10081406","MEDDRA:10081407","SNOMEDCT:398250003","medgen:78797"],"information_content":83.6}
{"id":"MONDO:0015544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired hemophagocytic lymphohistiocytosis associated with malignant disease","equivalent_identifiers":["MONDO:0015544","orphanet:158057","UMLS:C5190710","SNOMEDCT:782915004","medgen:1683300"],"information_content":100.0}
{"id":"MONDO:0015545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrophage activation syndrome","equivalent_identifiers":["MONDO:0015545","orphanet:158061","EFO:1001806","UMLS:C1096155","MESH:D055501","MEDDRA:10053867","NCIT:C114471","SNOMEDCT:430478003","medgen:242753"],"information_content":100.0}
{"id":"MONDO:0015546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-distal monosomy 10q","equivalent_identifiers":["MONDO:0015546","orphanet:1581","UMLS:C4749375","SNOMEDCT:770665005","medgen:1657787"],"information_content":100.0}
{"id":"MONDO:0015552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acral dystrophic epidermolysis bullosa","equivalent_identifiers":["MONDO:0015552","orphanet:158673","UMLS:C4518087","SNOMEDCT:733638006","medgen:1387925"],"information_content":100.0}
{"id":"MONDO:0015553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystrophic epidermolysis bullosa, nails only","equivalent_identifiers":["MONDO:0015553","orphanet:158676","UMLS:C4302547","SNOMEDCT:722436002","medgen:928216"],"information_content":100.0}
{"id":"MONDO:0015554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"typical urticaria pigmentosa","equivalent_identifiers":["MONDO:0015554","orphanet:158766","UMLS:C5680683","medgen:1843439"],"information_content":100.0}
{"id":"MONDO:0015555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plaque-form urticaria pigmentosa","equivalent_identifiers":["MONDO:0015555","orphanet:158769","UMLS:C5680682","medgen:1843438"],"information_content":100.0}
{"id":"MONDO:0015556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular urticaria pigmentosa","equivalent_identifiers":["MONDO:0015556","orphanet:158772","UMLS:C5680684","medgen:1843440"],"information_content":100.0}
{"id":"MONDO:0015557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Smouldering systemic mastocytosis","equivalent_identifiers":["MONDO:0015557","orphanet:158775","UMLS:C3897042","MEDDRA:10089806","MEDDRA:10089905","NCIT:C115460","SNOMEDCT:1231732006","SNOMEDCT:1231733001","medgen:856636","icd11.foundation:481663898"],"information_content":95.4}
{"id":"MONDO:0015558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated bone marrow mastocytosis","equivalent_identifiers":["MONDO:0015558","orphanet:158778","UMLS:C4509020","UMLS:C5761402","NCIT:C198573","SNOMEDCT:1231735008","SNOMEDCT:1231752007","medgen:1672479","icd11.foundation:922733413"],"information_content":100.0}
{"id":"MONDO:0015562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 17q","equivalent_identifiers":["MONDO:0015562","orphanet:1597","UMLS:C4275171","SNOMEDCT:715365000","SNOMEDCT:732259001","medgen:895716"],"information_content":100.0}
{"id":"MONDO:0015564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Castleman disease","equivalent_identifiers":["MONDO:0015564","DOID:0111157","orphanet:160","EFO:1001332","UMLS:C0017531","UMLS:C2931179","MESH:C536362","MESH:D005871","MEDDRA:10050251","NCIT:C3056","SNOMEDCT:207036003","SNOMEDCT:238809002","SNOMEDCT:781094002","medgen:42211","icd11.foundation:1940989685","ICD10:D47.Z2"],"information_content":80.6}
{"id":"MONDO:0015565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cap polyposis","equivalent_identifiers":["MONDO:0015565","orphanet:160148","UMLS:C4303971","SNOMEDCT:720604008","medgen:929640","icd11.foundation:1387262691"],"information_content":100.0}
{"id":"MONDO:0015566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2q24 microdeletion syndrome","equivalent_identifiers":["MONDO:0015566","orphanet:1617","UMLS:C2931816","MESH:C538316","SNOMEDCT:719658006","medgen:419168"],"information_content":100.0}
{"id":"MONDO:0015567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract-glaucoma syndrome","equivalent_identifiers":["MONDO:0015567","orphanet:162","UMLS:C4305131","SNOMEDCT:718851007","medgen:930800"],"information_content":100.0}
{"id":"MONDO:0015571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deletion 5q35","equivalent_identifiers":["MONDO:0015571","orphanet:1627","UMLS:C2931574","MESH:C537647","SNOMEDCT:721158009","medgen:419838"],"information_content":100.0}
{"id":"MONDO:0015573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subacute cutaneous lupus erythematosus","equivalent_identifiers":["MONDO:0015573","orphanet:163525","UMLS:C0024140","MEDDRA:10057903","NCIT:C117111","SNOMEDCT:239891002","medgen:7403","icd11.foundation:192274757"],"information_content":100.0}
{"id":"MONDO:0015579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hb Bart's hydrops fetalis","equivalent_identifiers":["MONDO:0015579","orphanet:163596","UMLS:C0272005","SNOMEDCT:5300004","medgen:543726"],"information_content":100.0}
{"id":"MONDO:0015580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 7q36","equivalent_identifiers":["MONDO:0015580","orphanet:1636","UMLS:C4706504","SNOMEDCT:763529005","medgen:1642679"],"information_content":100.0}
{"id":"MONDO:0015583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2p21 microdeletion syndrome","equivalent_identifiers":["MONDO:0015583","orphanet:163693","UMLS:C4304537","SNOMEDCT:719652007","medgen:930206"],"information_content":95.4}
{"id":"MONDO:0015584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"febrile infection-related epilepsy syndrome","equivalent_identifiers":["MONDO:0015584","orphanet:163703","UMLS:C4049262","MEDDRA:10076948","MEDDRA:10079438","SNOMEDCT:725413002","medgen:1381987","icd11.foundation:1316435973"],"information_content":100.0}
{"id":"MONDO:0015587","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rolandic epilepsy-speech dyspraxia syndrome","equivalent_identifiers":["MONDO:0015587","orphanet:163721","UMLS:C4707308","SNOMEDCT:765093009","medgen:1633042","icd11.foundation:288052868"],"information_content":95.4}
{"id":"MONDO:0015595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posttransplant acute limbic encephalitis","equivalent_identifiers":["MONDO:0015595","orphanet:163921","UMLS:C4750744","SNOMEDCT:773275000","medgen:1657779"],"information_content":100.0}
{"id":"MONDO:0015597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pustulosis palmaris et plantaris","equivalent_identifiers":["MONDO:0015597","DOID:4398","orphanet:163927","UMLS:C0030246","UMLS:C0263365","MEDDRA:10050185","NCIT:C34888","SNOMEDCT:27520001","SNOMEDCT:81271001","medgen:45290","icd11.foundation:877172115","ICD10:L40.3","HP:0100847"],"information_content":100.0}
{"id":"MONDO:0015599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atopic keratoconjunctivitis","equivalent_identifiers":["MONDO:0015599","orphanet:163934","UMLS:C1274788","MEDDRA:10069664","SNOMEDCT:403434009","medgen:698110","icd11.foundation:1941631830"],"information_content":100.0}
{"id":"MONDO:0015600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Cilliers type","equivalent_identifiers":["MONDO:0015600","orphanet:163971","UMLS:C4305024","SNOMEDCT:719013004","medgen:930693"],"information_content":100.0}
{"id":"MONDO:0015601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, van Esch type","equivalent_identifiers":["MONDO:0015601","DOID:0111840","OMIM:301030","orphanet:163976","UMLS:C4305072","SNOMEDCT:718914002","medgen:930741"],"information_content":100.0}
{"id":"MONDO:0015605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 9p","equivalent_identifiers":["MONDO:0015605","orphanet:1642","UMLS:C0265425","MESH:C538025","SNOMEDCT:763530000","medgen:539240"],"information_content":100.0}
{"id":"MONDO:0015606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Xp22.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0015606","orphanet:1643","UMLS:C4512072","SNOMEDCT:726733007","medgen:1388343"],"information_content":100.0}
{"id":"MONDO:0015607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial chromosome Y deletion","equivalent_identifiers":["MONDO:0015607","orphanet:1646","UMLS:C1507149","UMLS:C2931163","MESH:C536297","SNOMEDCT:717158001","medgen:267211"],"information_content":92.8}
{"id":"MONDO:0015609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"advanced sleep phase syndrome","equivalent_identifiers":["MONDO:0015609","DOID:0050628","OMIM.PS:604348","orphanet:164736","UMLS:C1858496","MESH:C565789","SNOMEDCT:715829003","medgen:348956"],"information_content":89.4}
{"id":"MONDO:0015612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dent disease","equivalent_identifiers":["MONDO:0015612","DOID:0050699","OMIM.PS:300009","orphanet:1652","UMLS:C0878681","MESH:D057973","MEDDRA:10069199","NCIT:C123260","SNOMEDCT:444645005","medgen:168056","icd11.foundation:1762998355"],"information_content":92.8}
{"id":"MONDO:0015613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentin dysplasia","equivalent_identifiers":["MONDO:0015613","DOID:701","orphanet:1653","UMLS:C0011430","UMLS:C4023558","MESH:D003805","SNOMEDCT:109492001","medgen:8310","icd11.foundation:1262020657","HP:0011060"],"information_content":90.9}
{"id":"MONDO:0015614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatitis herpetiformis","equivalent_identifiers":["MONDO:0015614","DOID:8505","orphanet:1656","EFO:1000684","UMLS:C0011608","MESH:D003874","MEDDRA:10012468","NCIT:C26742","SNOMEDCT:111196000","medgen:8327","icd11.foundation:286313127","ICD10:L13.0","ICD9:694.0"],"information_content":92.8}
{"id":"MONDO:0015627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia due to collagen 9 anomaly","equivalent_identifiers":["MONDO:0015627","DOID:0070305","orphanet:166002","UMLS:C4707798","SNOMEDCT:766717008","medgen:1647610","icd11.foundation:741183905"],"information_content":90.9}
{"id":"MONDO:0015628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Willebrand disease type 2A","equivalent_identifiers":["MONDO:0015628","orphanet:166084","UMLS:C1282968","NCIT:C131686","SNOMEDCT:359711001","SNOMEDCT:359714009","medgen:220920","icd11.foundation:1009291548"],"information_content":100.0}
{"id":"MONDO:0015629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Willebrand disease type 2B","equivalent_identifiers":["MONDO:0015629","orphanet:166087","UMLS:C1282971","NCIT:C131687","SNOMEDCT:359717002","SNOMEDCT:359721009","medgen:224831","icd11.foundation:1383884415"],"information_content":100.0}
{"id":"MONDO:0015630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Willebrand disease type 2M","equivalent_identifiers":["MONDO:0015630","orphanet:166090","UMLS:C1282973","UMLS:C1282974","NCIT:C131688","SNOMEDCT:359725000","SNOMEDCT:359729006","medgen:266186","icd11.foundation:1358085002"],"information_content":100.0}
{"id":"MONDO:0015631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"von Willebrand disease type 2N","equivalent_identifiers":["MONDO:0015631","orphanet:166093","UMLS:C1282975","NCIT:C131689","SNOMEDCT:359732009","medgen:266187","icd11.foundation:1091176565"],"information_content":100.0}
{"id":"MONDO:0015632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FASTKD2-related infantile mitochondrial encephalomyopathy","equivalent_identifiers":["MONDO:0015632","orphanet:166105","UMLS:C4755278","SNOMEDCT:778029000","medgen:1665220","icd11.foundation:356231901"],"information_content":100.0}
{"id":"MONDO:0015634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated osteopoikilosis","equivalent_identifiers":["MONDO:0015634","orphanet:166119","UMLS:C1833699","MESH:C563484","SNOMEDCT:1231182008","medgen:318940"],"information_content":100.0}
{"id":"MONDO:0015635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratotic eccrine ostial and dermal duct nevus","equivalent_identifiers":["MONDO:0015635","orphanet:166286","UMLS:C0473579","NCIT:C4740","SNOMEDCT:239118007","medgen:96880"],"information_content":100.0}
{"id":"MONDO:0015660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sporadic fetal brain disruption sequence","equivalent_identifiers":["MONDO:0015660","orphanet:1665","UMLS:C4706553","SNOMEDCT:763717004","medgen:1636968"],"information_content":95.4}
{"id":"MONDO:0015661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dextrocardia","equivalent_identifiers":["MONDO:0015661","DOID:9565","orphanet:1666","UMLS:C0011813","MESH:D003914","MEDDRA:10012592","NCIT:C84669","SNOMEDCT:27637000","medgen:4255","icd11.foundation:1472687600","ICD10:Q24.0","HP:0001651"],"information_content":92.8}
{"id":"MONDO:0015663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diencephalic syndrome","equivalent_identifiers":["MONDO:0015663","orphanet:1672","UMLS:C0271889","UMLS:C0342436","MEDDRA:10012774","MEDDRA:10087520","NCIT:C116955","SNOMEDCT:237733001","SNOMEDCT:45740001","medgen:90981","icd11.foundation:879659089"],"information_content":100.0}
{"id":"MONDO:0015665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scleromyxedema","equivalent_identifiers":["MONDO:0015665","orphanet:167635","UMLS:C0263390","MESH:D053718","MEDDRA:10081264","MEDDRA:10081265","NCIT:C85061","SNOMEDCT:402468007","medgen:120476"],"information_content":100.0}
{"id":"MONDO:0015666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial idiopathic dilatation of the right atrium","equivalent_identifiers":["MONDO:0015666","orphanet:1677","UMLS:C4274283","SNOMEDCT:716773002","medgen:901482"],"information_content":100.0}
{"id":"MONDO:0015672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diprosopus","equivalent_identifiers":["MONDO:0015672","orphanet:1681","UMLS:C0266731","SNOMEDCT:62192003","medgen:540123"],"information_content":100.0}
{"id":"MONDO:0015677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac diverticulum","equivalent_identifiers":["MONDO:0015677","orphanet:1686","UMLS:C0546315","UMLS:C4020965","SNOMEDCT:718181001","medgen:903640","HP:0100571"],"information_content":92.8}
{"id":"MONDO:0015678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysplasia of head of femur, Meyer type","equivalent_identifiers":["MONDO:0015678","orphanet:168621","UMLS:C4274970","SNOMEDCT:715861004","medgen:909364","icd11.foundation:381445908"],"information_content":100.0}
{"id":"MONDO:0015681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood disintegrative disorder","equivalent_identifiers":["MONDO:0015681","DOID:13487","orphanet:168782","UMLS:C0236791","MEDDRA:10008522","MEDDRA:10012287","MEDDRA:10013143","MEDDRA:10019379","MEDDRA:10037238","NCIT:C97164","SNOMEDCT:71961003","medgen:472967","icd11.foundation:1460615954","ICD10:F84.3","ICD9:299.1"],"information_content":100.0}
{"id":"MONDO:0015686","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary peritoneal carcinoma","equivalent_identifiers":["MONDO:0015686","orphanet:168829","UMLS:C1514428","NCIT:C40022","medgen:269516","HP:0030406"],"information_content":71.4}
{"id":"MONDO:0015687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic eosinophilic leukemia","equivalent_identifiers":["MONDO:0015687","DOID:0080367","orphanet:168940","EFO:1000178","UMLS:C0346421","UMLS:C3853548","MESH:C580364","MEDDRA:10065854","MEDDRA:10065872","NCIT:C4563","SNOMEDCT:188733003","SNOMEDCT:413836008","medgen:91106"],"information_content":100.0}
{"id":"MONDO:0015689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid neoplasm associated with PDGFRA rearrangement","equivalent_identifiers":["MONDO:0015689","DOID:0080165","orphanet:168947","UMLS:C2827360","UMLS:C4545381","NCIT:C84275","SNOMEDCT:450940003","SNOMEDCT:738527001","medgen:1620600","icd11.foundation:833355630"],"information_content":89.4}
{"id":"MONDO:0015690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid neoplasm associated with PDGFRB rearrangement","equivalent_identifiers":["MONDO:0015690","DOID:0080166","orphanet:168950","UMLS:C3472621","NCIT:C84276","SNOMEDCT:1251587000","SNOMEDCT:724642009","medgen:758646","icd11.foundation:625932159"],"information_content":89.4}
{"id":"MONDO:0015691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eosinophilia","equivalent_identifiers":["MONDO:0015691","DOID:999","orphanet:168956","EFO:1001467","UMLS:C0014457","UMLS:C1540912","UMLS:C1636667","MESH:D004802","MESH:D017681","MEDDRA:10014950","MEDDRA:10048643","NCIT:C27038","SNOMEDCT:1156250009","SNOMEDCT:393573009","SNOMEDCT:419455006","medgen:280990","icd11.foundation:110429919","ICD10:D72.1","ICD9:288.3","HP:0001880"],"information_content":79.0}
{"id":"MONDO:0015695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to CRAC channel dysfunction","equivalent_identifiers":["MONDO:0015695","orphanet:169090","UMLS:C4303571","SNOMEDCT:717811007","medgen:929240","icd11.foundation:1641826886"],"information_content":92.8}
{"id":"MONDO:0015696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Good syndrome","equivalent_identifiers":["MONDO:0015696","DOID:0060028","orphanet:169105","UMLS:C0221027","MEDDRA:10079838","SNOMEDCT:9893005","medgen:67437","icd11.foundation:812332735"],"information_content":100.0}
{"id":"MONDO:0015698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient hypogammaglobulinemia of infancy","equivalent_identifiers":["MONDO:0015698","DOID:624","orphanet:169139","UMLS:C0272238","UMLS:C4020822","MEDDRA:10044388","MEDDRA:10054672","NCIT:C27071","SNOMEDCT:88714009","medgen:124421","icd11.foundation:1686370790","ICD10:D80.7","HP:0005432"],"information_content":100.0}
{"id":"MONDO:0015699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency due to a classical component pathway complement deficiency","equivalent_identifiers":["MONDO:0015699","orphanet:169147","UMLS:C0398750","SNOMEDCT:234593008","medgen:585054","icd11.foundation:327609494"],"information_content":84.8}
{"id":"MONDO:0015700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency due to a late component of complement deficiency","equivalent_identifiers":["MONDO:0015700","orphanet:169150","UMLS:C0398765","SNOMEDCT:234608003","medgen:585067","icd11.foundation:531050218"],"information_content":87.2}
{"id":"MONDO:0015701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency","equivalent_identifiers":["MONDO:0015701","orphanet:169154","UMLS:C5679577","medgen:1842915"],"information_content":100.0}
{"id":"MONDO:0015702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CD45 deficiency","equivalent_identifiers":["MONDO:0015702","DOID:0060014","orphanet:169157","UMLS:C5679579","medgen:1842877"],"information_content":100.0}
{"id":"MONDO:0015703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta","equivalent_identifiers":["MONDO:0015703","orphanet:169160","UMLS:C5679578","medgen:1842819"],"information_content":90.9}
{"id":"MONDO:0015705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive centronuclear myopathy","equivalent_identifiers":["MONDO:0015705","DOID:0111216","orphanet:169186","UMLS:C3645536","SNOMEDCT:240081004","medgen:771131","icd11.foundation:1844602815"],"information_content":92.8}
{"id":"MONDO:0015706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 1","equivalent_identifiers":["MONDO:0015706","orphanet:1692","UMLS:C5394675","SNOMEDCT:829974003","medgen:1709039"],"information_content":100.0}
{"id":"MONDO:0015712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-distal trisomy 10q","equivalent_identifiers":["MONDO:0015712","orphanet:1695","UMLS:C4749376","SNOMEDCT:770666006","medgen:1664181"],"information_content":100.0}
{"id":"MONDO:0015715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe hemophilia B","equivalent_identifiers":["MONDO:0015715","orphanet:169793","UMLS:C5679576","SNOMEDCT:1336093007","medgen:1826004"],"information_content":100.0}
{"id":"MONDO:0015716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"moderately severe hemophilia B","equivalent_identifiers":["MONDO:0015716","orphanet:169796","UMLS:C5679575","SNOMEDCT:1336092002","medgen:1842225"],"information_content":100.0}
{"id":"MONDO:0015717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mild hemophilia B","equivalent_identifiers":["MONDO:0015717","orphanet:169799","UMLS:C5679574","SNOMEDCT:1336091009","medgen:1826003"],"information_content":100.0}
{"id":"MONDO:0015718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 12","equivalent_identifiers":["MONDO:0015718","orphanet:1698","UMLS:C4706889","SNOMEDCT:764463001","medgen:1631133"],"information_content":100.0}
{"id":"MONDO:0015719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe hemophilia A","equivalent_identifiers":["MONDO:0015719","orphanet:169802","UMLS:C0272322","SNOMEDCT:16872008","medgen:543973"],"information_content":100.0}
{"id":"MONDO:0015720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"moderately severe hemophilia A","equivalent_identifiers":["MONDO:0015720","orphanet:169805","UMLS:C0272323","SNOMEDCT:33344008","medgen:543974"],"information_content":100.0}
{"id":"MONDO:0015721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mild hemophilia A","equivalent_identifiers":["MONDO:0015721","orphanet:169808","UMLS:C0272324","SNOMEDCT:26029002","medgen:543975"],"information_content":100.0}
{"id":"MONDO:0015722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital vitamin K-dependent coagulation factors deficiency","equivalent_identifiers":["MONDO:0015722","DOID:0112172","OMIM.PS:277450","orphanet:169826","orphanet:98434","UMLS:C4510617","medgen:1378036","icd11.foundation:54644599"],"information_content":88.2}
{"id":"MONDO:0015723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 12p","equivalent_identifiers":["MONDO:0015723","orphanet:1699","UMLS:C0795845","MESH:C538299","medgen:162880"],"information_content":100.0}
{"id":"MONDO:0015724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-distal trisomy 13q","equivalent_identifiers":["MONDO:0015724","orphanet:1702","UMLS:C4707260","SNOMEDCT:764996009","medgen:1637117"],"information_content":100.0}
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{"id":"MONDO:0015727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 15","equivalent_identifiers":["MONDO:0015727","orphanet:1706","UMLS:C2931707","MESH:C538037","SNOMEDCT:764619001","medgen:419475"],"information_content":100.0}
{"id":"MONDO:0015728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal trisomy 15q","equivalent_identifiers":["MONDO:0015728","orphanet:1707","UMLS:C2931704","UMLS:C2931705","MESH:C538036","medgen:419879"],"information_content":100.0}
{"id":"MONDO:0015729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 16","equivalent_identifiers":["MONDO:0015729","orphanet:1708","UMLS:C4707009","MESH:C538041","MEDDRA:10081935","SNOMEDCT:764621006","medgen:1633950"],"information_content":100.0}
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{"id":"MONDO:0015734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rectal duplication","equivalent_identifiers":["MONDO:0015734","orphanet:171220","UMLS:C4511483","SNOMEDCT:725910009","medgen:1393874","icd11.foundation:1354283575","HP:6000336"],"information_content":100.0}
{"id":"MONDO:0015735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe congenital nemaline myopathy","equivalent_identifiers":["MONDO:0015735","orphanet:171430","UMLS:C5680451","SNOMEDCT:1197157004","medgen:1805110","icd11.foundation:1025202057"],"information_content":88.2}
{"id":"MONDO:0015736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermediate nemaline myopathy","equivalent_identifiers":["MONDO:0015736","orphanet:171433","UMLS:C5680452","SNOMEDCT:1197156008","medgen:1803914","icd11.foundation:1667070006"],"information_content":89.4}
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{"id":"MONDO:0015738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood-onset nemaline myopathy","equivalent_identifiers":["MONDO:0015738","orphanet:171439","UMLS:C0546125","SNOMEDCT:1197154006","medgen:154265"],"information_content":87.2}
{"id":"MONDO:0015739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset nemaline myopathy","equivalent_identifiers":["MONDO:0015739","orphanet:171442","UMLS:C0546123","SNOMEDCT:129622008","medgen:154264","icd11.foundation:1610331066"],"information_content":100.0}
{"id":"MONDO:0015740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 18p","equivalent_identifiers":["MONDO:0015740","orphanet:1715","UMLS:C2931811","MESH:C538307","medgen:419907","icd11.foundation:2079728626"],"information_content":100.0}
{"id":"MONDO:0015741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal trisomy 18q","equivalent_identifiers":["MONDO:0015741","orphanet:1716","UMLS:C5190516","SNOMEDCT:782676009","medgen:1674040"],"information_content":100.0}
{"id":"MONDO:0015742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periventricular leukomalacia","equivalent_identifiers":["MONDO:0015742","DOID:13088","EFO:1001101","UMLS:C0023529","MESH:D007969","MEDDRA:10052594","NCIT:C99013","SNOMEDCT:230769007","medgen:6072","ICD10:P91.2","ICD9:779.7","HP:0006970"],"information_content":95.4}
{"id":"MONDO:0015743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic bilateral vestibulopathy","equivalent_identifiers":["MONDO:0015743","orphanet:171684","UMLS:C4545229","SNOMEDCT:737580004","medgen:1622940","icd11.foundation:1394072237"],"information_content":100.0}
{"id":"MONDO:0015745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-polymicrogyria-corpus callosum agenesis syndrome","equivalent_identifiers":["MONDO:0015745","orphanet:171703","UMLS:C4750772","SNOMEDCT:773305003","medgen:1653942"],"information_content":100.0}
{"id":"MONDO:0015746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"male infertility due to globozoospermia","equivalent_identifiers":["MONDO:0015746","DOID:0112312","orphanet:171709","UMLS:C5679591","medgen:1826006"],"information_content":92.8}
{"id":"MONDO:0015748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary mucosal leukokeratosis","equivalent_identifiers":["MONDO:0015748","DOID:0050448","OMIM.PS:193900","orphanet:171723","UMLS:C1721005","MESH:D053529","MEDDRA:10072666","MEDDRA:10072678","NCIT:C84760","SNOMEDCT:389203001","medgen:328433"],"information_content":92.8}
{"id":"MONDO:0015749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"6q16 deletion syndrome","equivalent_identifiers":["MONDO:0015749","orphanet:171829","UMLS:C5438727","SNOMEDCT:1003380001","medgen:1759989"],"information_content":100.0}
{"id":"MONDO:0015751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome","equivalent_identifiers":["MONDO:0015751","orphanet:171839","UMLS:C3267187","MEDDRA:10072239","SNOMEDCT:720815000","medgen:923699"],"information_content":100.0}
{"id":"MONDO:0015753","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cap myopathy","equivalent_identifiers":["MONDO:0015753","orphanet:171881","UMLS:C3710589","MESH:C579969","SNOMEDCT:703532002","medgen:777197"],"information_content":100.0}
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{"id":"MONDO:0015760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-Cell Lymphoma","equivalent_identifiers":["MONDO:0015760","DOID:0081312","orphanet:171918","UMLS:C0079772","MESH:D016399","MEDDRA:10025321","MEDDRA:10042971","MEDDRA:10042972","NCIT:C3466","SNOMEDCT:109978004","SNOMEDCT:3172003","medgen:86957","HP:0012190"],"information_content":63.0}
{"id":"MONDO:0015761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 10p","equivalent_identifiers":["MONDO:0015761","orphanet:171929","UMLS:C0795837","UMLS:C4082793","MESH:C538290","SNOMEDCT:717157006","medgen:904688"],"information_content":100.0}
{"id":"MONDO:0015762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive familial intrahepatic cholestasis","equivalent_identifiers":["MONDO:0015762","DOID:0070221","OMIM.PS:211600","orphanet:172","UMLS:C0268312","MEDDRA:10076033","NCIT:C84453","medgen:75668","icd11.foundation:1457142642"],"information_content":81.3}
{"id":"MONDO:0015763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 2","equivalent_identifiers":["MONDO:0015763","orphanet:1723","UMLS:C4707010","SNOMEDCT:764623009","medgen:1631294"],"information_content":100.0}
{"id":"MONDO:0015764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 20","equivalent_identifiers":["MONDO:0015764","orphanet:1724"],"information_content":100.0}
{"id":"MONDO:0015766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholera","equivalent_identifiers":["MONDO:0015766","DOID:1498","orphanet:173","UMLS:C0008354","MESH:D002771","MEDDRA:10008631","MEDDRA:10008632","MEDDRA:10008634","MEDDRA:10045658","MEDDRA:10047397","MEDDRA:10047398","MEDDRA:10088337","NCIT:C157812","SNOMEDCT:63650001","medgen:40263","icd11.foundation:257068234","ICD10:A00","ICD9:001"],"information_content":100.0}
{"id":"MONDO:0015767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 4p","equivalent_identifiers":["MONDO:0015767","orphanet:1738","UMLS:C2931570","UMLS:C2931571","MESH:C537643","medgen:419836"],"information_content":100.0}
{"id":"MONDO:0015768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 5p","equivalent_identifiers":["MONDO:0015768","orphanet:1742","UMLS:C0812464","SNOMEDCT:74008005","medgen:1672500"],"information_content":100.0}
{"id":"MONDO:0015769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal trisomy 6p","equivalent_identifiers":["MONDO:0015769","orphanet:1745","UMLS:C4302551","SNOMEDCT:722430008","medgen:928220"],"information_content":100.0}
{"id":"MONDO:0015771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 7","equivalent_identifiers":["MONDO:0015771","orphanet:1747","UMLS:C2931631","MESH:C537822","SNOMEDCT:764630003","medgen:419125"],"information_content":100.0}
{"id":"MONDO:0015772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 8q","equivalent_identifiers":["MONDO:0015772","orphanet:1752","UMLS:C0795829","MESH:C538020","medgen:162775","icd11.foundation:573390171"],"information_content":100.0}
{"id":"MONDO:0015773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibular dimelia-diplopodia syndrome","equivalent_identifiers":["MONDO:0015773","orphanet:1757","UMLS:C4303758","SNOMEDCT:720953006","medgen:929427"],"information_content":100.0}
{"id":"MONDO:0015774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thoraco-abdominal enteric duplication","equivalent_identifiers":["MONDO:0015774","orphanet:1759","UMLS:C4518084","SNOMEDCT:733628001","medgen:1372227","icd11.foundation:1267632171"],"information_content":100.0}
{"id":"MONDO:0015776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhizomelic chondrodysplasia punctata","equivalent_identifiers":["MONDO:0015776","DOID:2580","OMIM.PS:215100","orphanet:177","UMLS:C0282529","MESH:D018902","NCIT:C85047","SNOMEDCT:56692003","medgen:79471","icd11.foundation:260357080","ICD10:E71.540"],"information_content":88.2}
{"id":"MONDO:0015779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"45,X/46,XY mixed gonadal dysgenesis","equivalent_identifiers":["MONDO:0015779","DOID:0080656","orphanet:1772","NCIT:C120199"],"information_content":100.0}
{"id":"MONDO:0015781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial dysmorphism-shawl scrotum-joint laxity syndrome","equivalent_identifiers":["MONDO:0015781","orphanet:1778","UMLS:C2931522","MESH:C537529","SNOMEDCT:716337006","medgen:419099"],"information_content":100.0}
{"id":"MONDO:0015782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysmorphism-cleft palate-loose skin syndrome","equivalent_identifiers":["MONDO:0015782","orphanet:1779","UMLS:C4706366","SNOMEDCT:763278004","medgen:1642311"],"information_content":100.0}
{"id":"MONDO:0015783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1","equivalent_identifiers":["MONDO:0015783","orphanet:177901","UMLS:C5680507","medgen:1826083"],"information_content":100.0}
{"id":"MONDO:0015784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2","equivalent_identifiers":["MONDO:0015784","orphanet:177904","UMLS:C5680508","medgen:1826084"],"information_content":100.0}
{"id":"MONDO:0015785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prader-Willi syndrome due to translocation","equivalent_identifiers":["MONDO:0015785","orphanet:177907","UMLS:C5680509","medgen:1826085"],"information_content":100.0}
{"id":"MONDO:0015786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prader-Willi syndrome due to imprinting mutation","equivalent_identifiers":["MONDO:0015786","orphanet:177910","UMLS:C5680510","medgen:1826086"],"information_content":100.0}
{"id":"MONDO:0015787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symptomatic form of hemophilia A in female carriers","equivalent_identifiers":["MONDO:0015787","orphanet:177926","UMLS:C5680504","medgen:1843218"],"information_content":100.0}
{"id":"MONDO:0015788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symptomatic form of hemophilia B in female carriers","equivalent_identifiers":["MONDO:0015788","orphanet:177929","UMLS:C5680505","medgen:1843014"],"information_content":100.0}
{"id":"MONDO:0015790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central diabetes insipidus","equivalent_identifiers":["MONDO:0015790","DOID:0081055","orphanet:178029","UMLS:C0687720","MESH:D020790","MEDDRA:10049518","MEDDRA:10068587","MEDDRA:10073192","MEDDRA:10078568","medgen:146919","icd11.foundation:1009553897","HP:0000863"],"information_content":92.8}
{"id":"MONDO:0015793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"moderate multiminicore disease with hand involvement","equivalent_identifiers":["MONDO:0015793","orphanet:178145","UMLS:C1861753","medgen:396213"],"information_content":100.0}
{"id":"MONDO:0015794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"antenatal multiminicore disease with arthrogryposis multiplex congenita","equivalent_identifiers":["MONDO:0015794","orphanet:178148","UMLS:C1843691","MESH:C537474","medgen:334470"],"information_content":100.0}
{"id":"MONDO:0015796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute lung injury","equivalent_identifiers":["MONDO:0015796","orphanet:178320","EFO:0004610","UMLS:C0242488","MESH:D055371","MEDDRA:10069351","NCIT:C155766","SNOMEDCT:315345002"],"information_content":100.0}
{"id":"MONDO:0015797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"UV-sensitive syndrome","equivalent_identifiers":["MONDO:0015797","DOID:0060240","OMIM.PS:600630","orphanet:178338","UMLS:C1833561","MESH:C563466","SNOMEDCT:698253007","medgen:322222"],"information_content":90.9}
{"id":"MONDO:0015798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory myofibroblastic tumor","equivalent_identifiers":["MONDO:0015798","DOID:0050905","orphanet:178342","UMLS:C0018199","UMLS:C0334121","MESH:D006104","MEDDRA:10067917","MEDDRA:10067918","MEDDRA:10068331","MEDDRA:10068332","NCIT:C3069","NCIT:C6481","SNOMEDCT:1290860006","SNOMEDCT:21971004","SNOMEDCT:35073002","SNOMEDCT:771233008","medgen:137723"],"information_content":79.0}
{"id":"MONDO:0015799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Smith-McCort dysplasia","equivalent_identifiers":["MONDO:0015799","DOID:0060247","OMIM.PS:607326","orphanet:178355","UMLS:C1846431","MESH:C564589","SNOMEDCT:715862006","medgen:375887","icd11.foundation:1800275830"],"information_content":92.8}
{"id":"MONDO:0015800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteosclerosis-developmental delay-craniosynostosis syndrome","equivalent_identifiers":["MONDO:0015800","orphanet:178377","UMLS:C4302818","SNOMEDCT:722117000","medgen:928487"],"information_content":100.0}
{"id":"MONDO:0015801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation","equivalent_identifiers":["MONDO:0015801","orphanet:178396","UMLS:C5190706","SNOMEDCT:782909004","medgen:1675899","icd11.foundation:59972355"],"information_content":100.0}
{"id":"MONDO:0015802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant non-syndromic intellectual disability","equivalent_identifiers":["MONDO:0015802","DOID:0060307","orphanet:178469","UMLS:C5680502","medgen:1826082"],"information_content":78.3}
{"id":"MONDO:0015803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wound botulism","equivalent_identifiers":["MONDO:0015803","DOID:0050353","orphanet:178475","UMLS:C1306794","NCIT:C128342","SNOMEDCT:398530003","medgen:224933","icd11.foundation:1674998448"],"information_content":100.0}
{"id":"MONDO:0015804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infant botulism","equivalent_identifiers":["MONDO:0015804","DOID:0050354","orphanet:178478","UMLS:C0238027","NCIT:C128343","SNOMEDCT:414488002","medgen:68649"],"information_content":100.0}
{"id":"MONDO:0015805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal botulism","equivalent_identifiers":["MONDO:0015805","DOID:0050141","orphanet:178481","UMLS:C1443901","SNOMEDCT:409563004","medgen:731170"],"information_content":92.8}
{"id":"MONDO:0015806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult intestinal botulism","equivalent_identifiers":["MONDO:0015806","orphanet:178487","UMLS:C4289991","NCIT:C128344","SNOMEDCT:1285577000","medgen:927523","icd11.foundation:1601222948"],"information_content":100.0}
{"id":"MONDO:0015824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculomaxillofacial dysostosis","equivalent_identifiers":["MONDO:0015824","orphanet:1794","UMLS:C1838348","MESH:C537736","SNOMEDCT:763830009","medgen:333072","icd11.foundation:921026296"],"information_content":95.4}
{"id":"MONDO:0015826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant spondylocostal dysostosis","equivalent_identifiers":["MONDO:0015826","orphanet:1797","UMLS:C4274761","SNOMEDCT:716232002","medgen:902919"],"information_content":100.0}
{"id":"MONDO:0015827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal renal tubular acidosis","equivalent_identifiers":["MONDO:0015827","OMIM:109270","OMIM:112010","OMIM:601551","OMIM.PS:179800","orphanet:18","UMLS:C1704380","UMLS:C1832168","UMLS:C1862191","UMLS:C1862320","UMLS:C3892933","UMLS:C4015889","UMLS:C4015890","UMLS:C4015891","UMLS:C4015892","UMLS:C4015893","UMLS:C4015894","UMLS:C4015895","UMLS:C4015896","UMLS:C4015897","UMLS:C4015899","UMLS:C4015900","UMLS:C4015901","UMLS:C4015902","UMLS:C4015903","UMLS:C4015904","UMLS:C4225456","UMLS:C4225644","UMLS:C4225645","UMLS:C4225646","MEDDRA:10045224","MEDDRA:10088489","NCIT:C123217","NCIT:C123220","SNOMEDCT:236461000","SNOMEDCT:86210009","medgen:853429","HP:0008341"],"information_content":88.2}
{"id":"MONDO:0015831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"unilateral aplasia of the mullerian ducts","equivalent_identifiers":["MONDO:0015831","orphanet:180071","UMLS:C0266389","MEDDRA:10080293","SNOMEDCT:1372004","medgen:78600","HP:0031909"],"information_content":92.8}
{"id":"MONDO:0015834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"didelphys uterus","equivalent_identifiers":["MONDO:0015834","orphanet:180086","UMLS:C0266393","MESH:D000093642","MEDDRA:10012770","SNOMEDCT:15545001","medgen:82740","HP:0003762"],"information_content":92.8}
{"id":"MONDO:0015842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bicornuate uterus","equivalent_identifiers":["MONDO:0015842","orphanet:180134","UMLS:C0266387","MESH:D000093663","MEDDRA:10004550","SNOMEDCT:289637001","SNOMEDCT:31401003","medgen:78599","icd11.foundation:1965739367","HP:0000813"],"information_content":90.9}
{"id":"MONDO:0015843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine hypoplasia","equivalent_identifiers":["MONDO:0015843","orphanet:180139","UMLS:C0266399","MEDDRA:10063146","SNOMEDCT:35850006","medgen:120575","icd11.foundation:1858530341","HP:0000013"],"information_content":95.4}
{"id":"MONDO:0015849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"longitudinal vaginal septum","equivalent_identifiers":["MONDO:0015849","orphanet:180157","UMLS:C1841680","medgen:331104","icd11.foundation:1594393492","HP:0008740"],"information_content":100.0}
{"id":"MONDO:0015850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transverse vaginal septum","equivalent_identifiers":["MONDO:0015850","orphanet:180160","UMLS:C1856006","medgen:341032","icd11.foundation:1265288464","HP:0000145"],"information_content":100.0}
{"id":"MONDO:0015855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Amastia","equivalent_identifiers":["MONDO:0015855","OMIM.PS:113700","orphanet:180188","UMLS:C0432357","MESH:C562989","MEDDRA:10072717","SNOMEDCT:271020004","medgen:98489"],"information_content":90.9}
{"id":"MONDO:0015863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyembryoma","equivalent_identifiers":["MONDO:0015863","orphanet:180229","UMLS:C0334518","NCIT:C66776","SNOMEDCT:1156404008","SNOMEDCT:28325008","medgen:83160"],"information_content":87.2}
{"id":"MONDO:0015883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hidrotic ectodermal dysplasia, Halal type","equivalent_identifiers":["MONDO:0015883","orphanet:1809","UMLS:C2930953","MESH:C535621","SNOMEDCT:721147000","medgen:443941","icd11.foundation:1668450131"],"information_content":100.0}
{"id":"MONDO:0015884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant hypohidrotic ectodermal dysplasia","equivalent_identifiers":["MONDO:0015884","orphanet:1810","UMLS:C0265331","medgen:539190","icd11.foundation:222258115"],"information_content":92.8}
{"id":"MONDO:0015898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenogenital syndrome","equivalent_identifiers":["MONDO:0015898","orphanet:181412","UMLS:C0302280","UMLS:C0701163","MESH:D047808","MEDDRA:10001383","MEDDRA:10001400","MEDDRA:10001401","MEDDRA:10061630","MEDDRA:10067952","SNOMEDCT:267395000","SNOMEDCT:271077003","medgen:86215","icd11.foundation:131153029","HP:0000840"],"information_content":80.2}
{"id":"MONDO:0015900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoaldosteronism disease","equivalent_identifiers":["MONDO:0015900","orphanet:181419","UMLS:C0020595","UMLS:C0857899","UMLS:C1846226","MESH:D006994","MEDDRA:10020944","MEDDRA:10040128","MEDDRA:10075907","MEDDRA:10075912","NCIT:C113206","SNOMEDCT:60086000","medgen:208996","HP:0004319"],"information_content":85.5}
{"id":"MONDO:0015903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperalphalipoproteinemia","equivalent_identifiers":["MONDO:0015903","orphanet:181428","UMLS:C0342883","UMLS:C4551591","MESH:C564591","NCIT:C128806","SNOMEDCT:238080004","medgen:87465","icd11.foundation:1599779547","HP:0012184"],"information_content":92.8}
{"id":"MONDO:0015908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromomycosis","equivalent_identifiers":["MONDO:0015908","DOID:1562","orphanet:182","EFO:0007207","UMLS:C0008582","MESH:D002862","MEDDRA:10008803","SNOMEDCT:187079000","medgen:3434","icd11.foundation:1438584733","ICD10:B43.9","ICD9:117.2"],"information_content":100.0}
{"id":"MONDO:0015909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aplastic anemia","equivalent_identifiers":["MONDO:0015909","DOID:12449","orphanet:182040","UMLS:C0002874","MESH:D000741","MEDDRA:10002037","MEDDRA:10002274","MEDDRA:10002967","MEDDRA:10002968","MEDDRA:10002969","MEDDRA:10002970","NCIT:C2870","SNOMEDCT:304132006","SNOMEDCT:306058006","medgen:8063","ICD10:D61.9","ICD9:284.9","HP:0001915"],"information_content":72.4}
{"id":"MONDO:0015912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss","equivalent_identifiers":["MONDO:0015912","DOID:0060651","OMIM:155100","orphanet:182050","EFO:0009646","UMLS:C0340978","UMLS:C0398641","UMLS:C0403445","UMLS:C1834478","UMLS:C1842035","UMLS:C5200934","MESH:C535507","MESH:C537831","MESH:C564237","MEDDRA:10065451","MEDDRA:10079437","NCIT:C131639","NCIT:C131642","NCIT:C131646","NCIT:C158788","SNOMEDCT:234484005","SNOMEDCT:234485006","SNOMEDCT:236422008","SNOMEDCT:712922002","medgen:1704278","ICD10:D69.4"],"information_content":89.4}
{"id":"MONDO:0015925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interstitial lung disease","equivalent_identifiers":["MONDO:0015925","DOID:3082","orphanet:182095","EFO:0004244","UMLS:C0206062","UMLS:C5399840","UMLS:C5441745","MESH:D017563","MEDDRA:10022611","NCIT:C164315","SNOMEDCT:233703007","medgen:1788738","ICD10:J84.9","HP:0006530"],"information_content":70.1}
{"id":"MONDO:0015941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiphyseal dysplasia-hearing loss-dysmorphism syndrome","equivalent_identifiers":["MONDO:0015941","orphanet:1825","UMLS:C4707857","SNOMEDCT:766870005","medgen:1643947"],"information_content":100.0}
{"id":"MONDO:0015942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontometaphyseal dysplasia","equivalent_identifiers":["MONDO:0015942","DOID:0111785","OMIM.PS:305620","orphanet:1826","UMLS:C0265293","MESH:C538064","SNOMEDCT:62803002","medgen:82703","icd11.foundation:1767187670"],"information_content":92.8}
{"id":"MONDO:0015943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic granulomatosis with polyangiitis","equivalent_identifiers":["MONDO:0015943","DOID:3049","orphanet:183","EFO:0007208","UMLS:C0008728","MESH:D015267","MEDDRA:10001693","MEDDRA:10001713","MEDDRA:10001714","MEDDRA:10009164","MEDDRA:10014957","MEDDRA:10048594","MEDDRA:10078117","NCIT:C34481","SNOMEDCT:82275008","medgen:3088","icd11.foundation:835880885","ICD10:M30.1"],"information_content":100.0}
{"id":"MONDO:0015944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"axial mesodermal dysplasia spectrum","equivalent_identifiers":["MONDO:0015944","orphanet:1834","UMLS:C2931613","MESH:C537790","SNOMEDCT:765755006","medgen:419853"],"information_content":100.0}
{"id":"MONDO:0015974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency","equivalent_identifiers":["MONDO:0015974","DOID:627","orphanet:183660","UMLS:C0085110","MESH:D016511","MEDDRA:10069566","NCIT:C3472","SNOMEDCT:31323000","medgen:88328","icd11.foundation:963193284","HP:0004430"],"information_content":73.8}
{"id":"MONDO:0015977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia","equivalent_identifiers":["MONDO:0015977","DOID:2583","OMIM.PS:601495","orphanet:183669","UMLS:C0001768","MESH:D000361","MEDDRA:10001470","MEDDRA:10001471","SNOMEDCT:119249001","medgen:168","ICD10:D80.1","ICD9:279.00","HP:0004432"],"information_content":74.9}
{"id":"MONDO:0015986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral renal agenesis","equivalent_identifiers":["MONDO:0015986","DOID:0080200","orphanet:1848","UMLS:C1609433","MESH:C536482","NCIT:C101219","medgen:296299","HP:0010958"],"information_content":95.4}
{"id":"MONDO:0015987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scimitar syndrome","equivalent_identifiers":["MONDO:0015987","orphanet:185","EFO:1001167","UMLS:C0036400","UMLS:C4551905","MESH:D012587","MEDDRA:10051951","NCIT:C85056","SNOMEDCT:39905002","medgen:20675","icd11.foundation:1321054364","ICD10:Q26.8","HP:0011626"],"information_content":100.0}
{"id":"MONDO:0015988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multicystic dysplastic kidney","equivalent_identifiers":["MONDO:0015988","orphanet:1851","UMLS:C3714581","MESH:D021782","MEDDRA:10078248","NCIT:C123031","SNOMEDCT:204962002","SNOMEDCT:737562008","medgen:811388","icd11.foundation:1178642763","HP:0000003"],"information_content":92.8}
{"id":"MONDO:0015993","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy","equivalent_identifiers":["MONDO:0015993","DOID:0050572","OMIM.PS:120970","orphanet:1872","UMLS:C4085590","MESH:D000071700","MEDDRA:10085521","medgen:896366","ICD10:H35.5","HP:0000548"],"information_content":76.9}
{"id":"MONDO:0015995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melorheostosis with osteopoikilosis","equivalent_identifiers":["MONDO:0015995","orphanet:1879","UMLS:C3149695","MESH:C563593","SNOMEDCT:1197053003","medgen:461045","icd11.foundation:152942585"],"information_content":100.0}
{"id":"MONDO:0015998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ectopia Lentis","equivalent_identifiers":["MONDO:0015998","DOID:0111148","orphanet:1885","UMLS:C0013581","UMLS:C0023309","UMLS:C1851286","UMLS:C2746069","MESH:C536184","MESH:D004479","MEDDRA:10010454","MEDDRA:10013152","MEDDRA:10014145","MEDDRA:10024203","NCIT:C118864","NCIT:C125484","NCIT:C34566","SNOMEDCT:74969002","medgen:342716","ICD10:Q12.1","ICD9:743.37","HP:0001083"],"information_content":89.4}
{"id":"MONDO:0016000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated hypoparathyroidism due to impaired PTH secretion","equivalent_identifiers":["MONDO:0016000","orphanet:189466","UMLS:C5680524","medgen:1843283"],"information_content":100.0}
{"id":"MONDO:0016002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nevo syndrome","equivalent_identifiers":["MONDO:0016002","DOID:0080734","OMIM:225400","orphanet:1900","UMLS:C0268342","UMLS:C2936777","UMLS:C4551497","MESH:C536113","MESH:C536198","NCIT:C125700","SNOMEDCT:25606004","SNOMEDCT:718211004","medgen:75672"],"information_content":100.0}
{"id":"MONDO:0016004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aminopterin/methotrexate embryofetopathy","equivalent_identifiers":["MONDO:0016004","orphanet:1908","UMLS:C0432367","MEDDRA:10071183","MEDDRA:10071184","NCIT:C98928","SNOMEDCT:65986000","medgen:98491"],"information_content":100.0}
{"id":"MONDO:0016005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"indomethacin embryofetopathy","equivalent_identifiers":["MONDO:0016005","orphanet:1909","UMLS:C4275138","SNOMEDCT:715430001","medgen:903069","icd11.foundation:1929563114"],"information_content":100.0}
{"id":"MONDO:0016006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cockayne syndrome","equivalent_identifiers":["MONDO:0016006","DOID:2962","orphanet:191","UMLS:C0009207","MESH:D003057","MEDDRA:10009835","MEDDRA:10083972","NCIT:C9460","SNOMEDCT:21086008","medgen:40363","icd11.foundation:1206275070"],"information_content":83.6}
{"id":"MONDO:0016007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cocaine embryofetopathy","equivalent_identifiers":["MONDO:0016007","orphanet:1911","UMLS:C0432371","SNOMEDCT:254250002","medgen:140937","icd11.foundation:1604796846"],"information_content":100.0}
{"id":"MONDO:0016008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal hydantoin syndrome","equivalent_identifiers":["MONDO:0016008","orphanet:1912","UMLS:C0265372","MESH:C537922","MEDDRA:10016508","MEDDRA:10016522","MEDDRA:10016861","MEDDRA:10016867","NCIT:C98927","SNOMEDCT:70065001","medgen:75569","icd11.foundation:1894344911"],"information_content":100.0}
{"id":"MONDO:0016009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal trimethadione syndrome","equivalent_identifiers":["MONDO:0016009","orphanet:1913","UMLS:C0265373","MESH:C537798","SNOMEDCT:66351003","medgen:120538","icd11.foundation:1743242235"],"information_content":95.4}
{"id":"MONDO:0016010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin K-antagonist embryofetopathy","equivalent_identifiers":["MONDO:0016010","orphanet:1914","UMLS:C0265374","MESH:C536683","MEDDRA:10051445","MEDDRA:10054728","NCIT:C98906","SNOMEDCT:38323006","medgen:75570","icd11.foundation:71579696"],"information_content":100.0}
{"id":"MONDO:0016011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal alcohol syndrome","equivalent_identifiers":["MONDO:0016011","DOID:0050665","DOID:0050667","orphanet:1915","UMLS:C0015923","MEDDRA:10016475","MEDDRA:10016845","NCIT:C84713","SNOMEDCT:205788004","medgen:8820","icd11.foundation:362980699","ICD10:Q86.0"],"information_content":100.0}
{"id":"MONDO:0016012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diethylstilbestrol syndrome","equivalent_identifiers":["MONDO:0016012","orphanet:1916","UMLS:C0853695","MEDDRA:10012780","NCIT:C113422","SNOMEDCT:716005004","medgen:799290","icd11.foundation:1134098724"],"information_content":100.0}
{"id":"MONDO:0016013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal methylmercury syndrome","equivalent_identifiers":["MONDO:0016013","orphanet:1917","UMLS:C0265376","UMLS:C0546127","MESH:D020262","SNOMEDCT:62110005","medgen:82710","icd11.foundation:1975519045"],"information_content":100.0}
{"id":"MONDO:0016014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal minoxidil syndrome","equivalent_identifiers":["MONDO:0016014","orphanet:1918","UMLS:C0432373","SNOMEDCT:254251003","medgen:96601","icd11.foundation:4930572"],"information_content":100.0}
{"id":"MONDO:0016015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phenobarbital embryopathy","equivalent_identifiers":["MONDO:0016015","orphanet:1919","UMLS:C4275281","SNOMEDCT:715431002","medgen:895102","icd11.foundation:1602901948"],"information_content":100.0}
{"id":"MONDO:0016016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toluene embryopathy","equivalent_identifiers":["MONDO:0016016","orphanet:1920","UMLS:C2931737","MESH:C538114","SNOMEDCT:254254006","medgen:444131","icd11.foundation:1446076607"],"information_content":100.0}
{"id":"MONDO:0016017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methimazole embryofetopathy","equivalent_identifiers":["MONDO:0016017","orphanet:1923","UMLS:C4510379","SNOMEDCT:724144006","medgen:1388574","icd11.foundation:1204409156"],"information_content":100.0}
{"id":"MONDO:0016018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetic embryopathy","equivalent_identifiers":["MONDO:0016018","orphanet:1926","UMLS:C3830518","NCIT:C113485","SNOMEDCT:716020005","medgen:823266","icd11.foundation:778367655"],"information_content":95.4}
{"id":"MONDO:0016019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rasmussen subacute encephalitis","equivalent_identifiers":["MONDO:0016019","orphanet:1929","UMLS:C0393484","UMLS:C2930868","MESH:C535291","MEDDRA:10071141","MEDDRA:10071144","MEDDRA:10071145","NCIT:C125384","SNOMEDCT:230191005","medgen:418934"],"information_content":100.0}
{"id":"MONDO:0016020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontal encephalocele","equivalent_identifiers":["MONDO:0016020","orphanet:1931","UMLS:C0431289","UMLS:C0431290","SNOMEDCT:253103006","SNOMEDCT:253104000","medgen:98460","icd11.foundation:1375023725","HP:0007330"],"information_content":90.9}
{"id":"MONDO:0016027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign neonatal seizures","equivalent_identifiers":["MONDO:0016027","DOID:14264","DOID:14777","OMIM.PS:121200","orphanet:1949","UMLS:C0220669","UMLS:C0270851","UMLS:C3889476","UMLS:C5967415","MESH:D020936","MEDDRA:10067866","NCIT:C117307","NCIT:C84593","SNOMEDCT:279953009","SNOMEDCT:38281008","medgen:65082"],"information_content":89.4}
{"id":"MONDO:0016028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythromelalgia","equivalent_identifiers":["MONDO:0016028","DOID:9240","UMLS:C0014804","MESH:D004916","MEDDRA:10015247","MEDDRA:10015284","MEDDRA:10077100","NCIT:C34593","SNOMEDCT:37151006","medgen:8687","icd11.foundation:838760425","ICD10:I73.81","ICD9:443.82","HP:0032147"],"information_content":92.8}
{"id":"MONDO:0016030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Evans syndrome","equivalent_identifiers":["MONDO:0016030","DOID:8931","orphanet:1959","UMLS:C0272126","MESH:C536380","MEDDRA:10053873","NCIT:C61284","SNOMEDCT:75331009","medgen:75773","icd11.foundation:1048228553","ICD10:D69.41","ICD9:287.32"],"information_content":100.0}
{"id":"MONDO:0016031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FACES syndrome","equivalent_identifiers":["MONDO:0016031","orphanet:1969","UMLS:C2931183","MESH:C536384","SNOMEDCT:782949007","medgen:419355"],"information_content":100.0}
{"id":"MONDO:0016032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short femur","equivalent_identifiers":["MONDO:0016032","orphanet:1987","UMLS:C0345375","SNOMEDCT:93255008","medgen:87499","icd11.foundation:662157487","HP:0003097"],"information_content":92.8}
{"id":"MONDO:0016033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cornelia de Lange syndrome","equivalent_identifiers":["MONDO:0016033","DOID:11725","OMIM.PS:122470","orphanet:199","UMLS:C0270972","MESH:D003635","MEDDRA:10056354","MEDDRA:10077707","NCIT:C75016","medgen:78752","icd11.foundation:1801560012"],"information_content":87.2}
{"id":"MONDO:0016035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nelson syndrome","equivalent_identifiers":["MONDO:0016035","DOID:4968","OMIM:125550","orphanet:199244","UMLS:C0027577","UMLS:C1852159","MESH:C531754","MESH:D009347","MEDDRA:10028913","MEDDRA:10036327","NCIT:C84917","SNOMEDCT:43019009","medgen:342174","icd11.foundation:1945677910","ICD10:E24.1"],"information_content":100.0}
{"id":"MONDO:0016039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile digital fibromatosis","equivalent_identifiers":["MONDO:0016039","orphanet:199267","EFO:1000301","UMLS:C1318562","NCIT:C3456","SNOMEDCT:1290969006","SNOMEDCT:399903008","medgen:232929","HP:0025197"],"information_content":100.0}
{"id":"MONDO:0016041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Microgastria","equivalent_identifiers":["MONDO:0016041","orphanet:199293","UMLS:C0266150","SNOMEDCT:83714006","medgen:82732","icd11.foundation:1695007532","HP:0100841"],"information_content":100.0}
{"id":"MONDO:0016042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late-onset isolated ACTH deficiency","equivalent_identifiers":["MONDO:0016042","orphanet:199299","UMLS:C4751433","SNOMEDCT:773989002","medgen:1651973","icd11.foundation:1651831896"],"information_content":100.0}
{"id":"MONDO:0016043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated cleft lip","equivalent_identifiers":["MONDO:0016043","orphanet:199302","medgen:40327","icd11.foundation:172183323"],"information_content":92.8}
{"id":"MONDO:0016044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Orofacial cleft","equivalent_identifiers":["MONDO:0016044","orphanet:199306","UMLS:C0158646","UMLS:C4021813","MEDDRA:10009260","MEDDRA:10009261","MEDDRA:10009271","MEDDRA:10009273","MEDDRA:10009278","MEDDRA:10024533","MEDDRA:10033528","SNOMEDCT:253983005","SNOMEDCT:66948001","medgen:57640","HP:0000202"],"information_content":71.6}
{"id":"MONDO:0016045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetragametic chimerism","equivalent_identifiers":["MONDO:0016045","orphanet:199310","UMLS:C0432480","SNOMEDCT:205718006","medgen:609542"],"information_content":100.0}
{"id":"MONDO:0016048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated autosomal dominant hypomagnesemia, Glaudemans type","equivalent_identifiers":["MONDO:0016048","orphanet:199326","UMLS:C4305155","SNOMEDCT:722008003","medgen:930824"],"information_content":100.0}
{"id":"MONDO:0016049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy, Paradas type","equivalent_identifiers":["MONDO:0016049","orphanet:199329","UMLS:C4511057","SNOMEDCT:725420009","medgen:1388555"],"information_content":100.0}
{"id":"MONDO:0016051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft lip-retinopathy syndrome","equivalent_identifiers":["MONDO:0016051","orphanet:1995","UMLS:C2931789","MESH:C538272","SNOMEDCT:732247000","medgen:419494"],"information_content":100.0}
{"id":"MONDO:0016058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal dystonia","equivalent_identifiers":["MONDO:0016058","orphanet:200037","UMLS:C0393588","SNOMEDCT:230310003","medgen:97951","icd11.foundation:2047715743","HP:0002268"],"information_content":82.6}
{"id":"MONDO:0016059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft lip/palate-deafness-sacral lipoma syndrome","equivalent_identifiers":["MONDO:0016059","orphanet:2003","UMLS:C4274888","SNOMEDCT:716007007","medgen:905203"],"information_content":100.0}
{"id":"MONDO:0016060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Laryngeal cleft","equivalent_identifiers":["MONDO:0016060","orphanet:2004","UMLS:C1840311","MESH:C537875","MEDDRA:10069115","NCIT:C98622","SNOMEDCT:232461002","icd11.foundation:271795917","HP:0008751"],"information_content":87.2}
{"id":"MONDO:0016061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency with factor H anomaly","equivalent_identifiers":["MONDO:0016061","orphanet:200421","icd11.foundation:946399055"],"information_content":100.0}
{"id":"MONDO:0016063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cowden disease","equivalent_identifiers":["MONDO:0016063","DOID:0050657","DOID:6457","OMIM.PS:158350","orphanet:201","UMLS:C0018553","UMLS:C0265326","MESH:D006223","MEDDRA:10051906","MEDDRA:10051915","MEDDRA:10051916","MEDDRA:10080314","NCIT:C3076","NCIT:C3939","SNOMEDCT:234138005","SNOMEDCT:58037000","medgen:5420","ICD10:Q87.89"],"information_content":85.5}
{"id":"MONDO:0016064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft palate","equivalent_identifiers":["MONDO:0016064","DOID:674","orphanet:2014","UMLS:C0008925","UMLS:C2981150","MESH:D002972","MEDDRA:10009269","MEDDRA:10009283","MEDDRA:10033529","MEDDRA:10068904","NCIT:C87069","SNOMEDCT:63567004","SNOMEDCT:87979003","medgen:756015","icd11.foundation:2129534948","ICD10:Q35","ICD9:749.0","HP:0000175"],"information_content":78.3}
{"id":"MONDO:0016065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft palate-short stature-vertebral anomalies syndrome","equivalent_identifiers":["MONDO:0016065","orphanet:2015","UMLS:C4304704","SNOMEDCT:719466009","medgen:930373"],"information_content":100.0}
{"id":"MONDO:0016066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sternal cleft","equivalent_identifiers":["MONDO:0016066","orphanet:2017","UMLS:C0265696","UMLS:C2931507","MESH:C537489","SNOMEDCT:54008006","medgen:419096","icd11.foundation:1308914573","HP:0010309"],"information_content":95.4}
{"id":"MONDO:0016068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrochondrogenesis","equivalent_identifiers":["MONDO:0016068","DOID:0060465","OMIM.PS:228520","orphanet:2021","UMLS:C0265282","MESH:C562524","SNOMEDCT:17144009","medgen:82700","icd11.foundation:1412541453"],"information_content":92.8}
{"id":"MONDO:0016070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary gingival fibromatosis","equivalent_identifiers":["MONDO:0016070","DOID:0060466","OMIM.PS:135300","orphanet:2024","UMLS:C0016049","UMLS:C0399440","UMLS:C4280677","MESH:C562884","MESH:D005351","MEDDRA:10088210","SNOMEDCT:109620006","SNOMEDCT:58569000","medgen:140775","icd11.foundation:1911315646","HP:0000169"],"information_content":87.2}
{"id":"MONDO:0016071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile hyaline fibromatosis","equivalent_identifiers":["MONDO:0016071","orphanet:2028","UMLS:C2745948","MESH:D057770","NCIT:C98297","SNOMEDCT:1290968003","SNOMEDCT:238861002","medgen:411197","icd11.foundation:1890146024"],"information_content":100.0}
{"id":"MONDO:0016079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sporadic Creutzfeldt-Jakob disease","equivalent_identifiers":["MONDO:0016079","orphanet:204","UMLS:C1852467","MESH:C565143","SNOMEDCT:713060000","medgen:377682","icd11.foundation:1553463690"],"information_content":100.0}
{"id":"MONDO:0016080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bronchobiliary fistula","equivalent_identifiers":["MONDO:0016080","orphanet:2040","UMLS:C4304716","SNOMEDCT:719452004","medgen:930385","icd11.foundation:420429663"],"information_content":100.0}
{"id":"MONDO:0016081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coronary arterial fistulas","equivalent_identifiers":["MONDO:0016081","orphanet:2041","UMLS:C0265898","MEDDRA:10069441","SNOMEDCT:373093003","medgen:488822","HP:0011641"],"information_content":89.4}
{"id":"MONDO:0016083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FLOTCH syndrome","equivalent_identifiers":["MONDO:0016083","orphanet:2045","UMLS:C2931411","MESH:C537065","SNOMEDCT:774065001","medgen:419074"],"information_content":100.0}
{"id":"MONDO:0016085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cole-Carpenter syndrome","equivalent_identifiers":["MONDO:0016085","DOID:0060438","OMIM.PS:112240","orphanet:2050","UMLS:C1862178","MESH:C535963","NCIT:C130985","SNOMEDCT:389199001","medgen:350614","icd11.foundation:1458793358"],"information_content":92.8}
{"id":"MONDO:0016086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteochondritis of tarsal/metatarsal bone","equivalent_identifiers":["MONDO:0016086","DOID:11760","orphanet:563991","UMLS:C0158444","MEDDRA:10023260","MEDDRA:10031236","SNOMEDCT:203392007","medgen:510539","ICD9:732.5"],"information_content":100.0}
{"id":"MONDO:0016087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive non-infectious anterior vertebral fusion","equivalent_identifiers":["MONDO:0016087","orphanet:2062","UMLS:C4304839","SNOMEDCT:719268008","medgen:930508"],"information_content":100.0}
{"id":"MONDO:0016089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile Krabbe disease","equivalent_identifiers":["MONDO:0016089","orphanet:206436","UMLS:C0751273","SNOMEDCT:238030005","medgen:148270","icd11.foundation:999546344"],"information_content":100.0}
{"id":"MONDO:0016090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late-infantile/juvenile Krabbe disease","equivalent_identifiers":["MONDO:0016090","orphanet:206443","SNOMEDCT:41142009"],"information_content":100.0}
{"id":"MONDO:0016091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult Krabbe disease","equivalent_identifiers":["MONDO:0016091","orphanet:206448","UMLS:C0268252","medgen:120623","icd11.foundation:699668826"],"information_content":100.0}
{"id":"MONDO:0016097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers","equivalent_identifiers":["MONDO:0016097","orphanet:206546","UMLS:C4707359","SNOMEDCT:765197008","medgen:1631985"],"information_content":100.0}
{"id":"MONDO:0016098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immune-mediated necrotizing myopathy","equivalent_identifiers":["MONDO:0016098","orphanet:206569","UMLS:C3267047","MEDDRA:10072155","MEDDRA:10072156","SNOMEDCT:715863001","medgen:899492"],"information_content":100.0}
{"id":"MONDO:0016099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"overlap myositis","equivalent_identifiers":["MONDO:0016099","orphanet:206572","UMLS:C5679784","SNOMEDCT:1231749004","medgen:1814440"],"information_content":100.0}
{"id":"MONDO:0016102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subacute inflammatory demyelinating polyneuropathy","equivalent_identifiers":["MONDO:0016102","orphanet:206594","UMLS:C0456517","SNOMEDCT:277189006","medgen:629329","icd11.foundation:1692167541"],"information_content":100.0}
{"id":"MONDO:0016103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HyperCKmia","equivalent_identifiers":["MONDO:0016103","DOID:0111338","orphanet:206599","UMLS:C4724975","UMLS:C4751434","NCIT:C148327","SNOMEDCT:773990006","medgen:1668524"],"information_content":100.0}
{"id":"MONDO:0016122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periodic paralysis","equivalent_identifiers":["MONDO:0016122","orphanet:206976","UMLS:C1279412","SNOMEDCT:198030008","medgen:488958","icd11.foundation:577112387","HP:0003768"],"information_content":83.1}
{"id":"MONDO:0016129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic gastroenteritis","equivalent_identifiers":["MONDO:0016129","DOID:4031","orphanet:2070","UMLS:C1262481","MEDDRA:10017902","NCIT:C35330","SNOMEDCT:359804008","medgen:220382","ICD9:558.41","HP:0032064"],"information_content":87.2}
{"id":"MONDO:0016158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"narcolepsy-cataplexy syndrome","equivalent_identifiers":["MONDO:0016158","orphanet:2073","UMLS:C0751362","NCIT:C196015","SNOMEDCT:193042000","medgen:199638","icd11.foundation:1851015159"],"information_content":89.4}
{"id":"MONDO:0016159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gemignani syndrome","equivalent_identifiers":["MONDO:0016159","orphanet:2074","UMLS:C2931587","MESH:C537678","SNOMEDCT:782690007","medgen:444093"],"information_content":100.0}
{"id":"MONDO:0016162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral frontal polymicrogyria","equivalent_identifiers":["MONDO:0016162","DOID:0080921","orphanet:208444","UMLS:C5437679","SNOMEDCT:890285006","medgen:1754014","icd11.foundation:688947844"],"information_content":95.4}
{"id":"MONDO:0016163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 7","equivalent_identifiers":["MONDO:0016163","DOID:0050958","OMIM:164500","orphanet:208508","orphanet:94147","UMLS:C0752125","UMLS:C5848204","NCIT:C126562","SNOMEDCT:1156796002","SNOMEDCT:715726000","medgen:156006"],"information_content":100.0}
{"id":"MONDO:0016167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic pathway glioma","equivalent_identifiers":["MONDO:0016167","orphanet:2086","UMLS:C0796418","MEDDRA:10030953","NCIT:C8567","medgen:162950","icd11.foundation:1000103370"],"information_content":80.2}
{"id":"MONDO:0016175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa","equivalent_identifiers":["MONDO:0016175","DOID:3144","orphanet:209","UMLS:C0010495","UMLS:C0268366","UMLS:C2930812","UMLS:C4280606","MESH:C531660","MESH:D003483","MEDDRA:10011692","MEDDRA:10012500","MEDDRA:10057064","NCIT:C84663","SNOMEDCT:58588007","medgen:8206","icd11.foundation:1227401566","HP:0000973"],"information_content":78.3}
{"id":"MONDO:0016176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy","equivalent_identifiers":["MONDO:0016176","orphanet:209004","UMLS:C5680822","medgen:1842867"],"information_content":100.0}
{"id":"MONDO:0016202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant rhegmatogenous retinal detachment","equivalent_identifiers":["MONDO:0016202","orphanet:209867","UMLS:C1836081","MESH:C563710","SNOMEDCT:773727009","medgen:322821","icd11.foundation:1308905567"],"information_content":100.0}
{"id":"MONDO:0016203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","equivalent_identifiers":["MONDO:0016203","orphanet:209902","UMLS:C4751204","SNOMEDCT:773726000","medgen:1653798"],"information_content":100.0}
{"id":"MONDO:0016204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic copper-associated cirrhosis","equivalent_identifiers":["MONDO:0016204","orphanet:209919","UMLS:C4274853","SNOMEDCT:715864007","medgen:907284","icd11.foundation:1692504835"],"information_content":100.0}
{"id":"MONDO:0016205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IRVAN syndrome","equivalent_identifiers":["MONDO:0016205","orphanet:209943","UMLS:C3665812","MEDDRA:10073929","MEDDRA:10073939","SNOMEDCT:783090002","medgen:1435227","icd11.foundation:498393228"],"information_content":100.0}
{"id":"MONDO:0016206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic uveal effusion syndrome","equivalent_identifiers":["MONDO:0016206","orphanet:209956","UMLS:C4755300","SNOMEDCT:778049009","medgen:1669541","icd11.foundation:1481963661"],"information_content":100.0}
{"id":"MONDO:0016207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phacoanaphylactic uveitis","equivalent_identifiers":["MONDO:0016207","orphanet:209959","UMLS:C1444621","SNOMEDCT:410494003","medgen:731803"],"information_content":100.0}
{"id":"MONDO:0016208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"solitary rectal ulcer syndrome","equivalent_identifiers":["MONDO:0016208","orphanet:209964","UMLS:C4274343","MEDDRA:10083165","SNOMEDCT:716685003","medgen:906337","icd11.foundation:1677843970"],"information_content":100.0}
{"id":"MONDO:0016214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome","equivalent_identifiers":["MONDO:0016214","orphanet:210136","UMLS:C4510085","SNOMEDCT:723829000","medgen:1385709"],"information_content":100.0}
{"id":"MONDO:0016215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic quadriplegic cerebral palsy","equivalent_identifiers":["MONDO:0016215","DOID:10970","OMIM.PS:612900","orphanet:210141","UMLS:C0154697","UMLS:C0426970","MEDDRA:10021744","MEDDRA:10037720","MEDDRA:10074398","NCIT:C116904","SNOMEDCT:192965001","SNOMEDCT:275468009","medgen:98433","icd11.foundation:1155284708","ICD9:343.2","HP:0002510"],"information_content":90.9}
{"id":"MONDO:0016216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult hepatocellular carcinoma","equivalent_identifiers":["MONDO:0016216","DOID:0070328","orphanet:210159","UMLS:C0279607","NCIT:C7956","SNOMEDCT:1197204009","medgen:124633"],"information_content":83.6}
{"id":"MONDO:0016217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mal de Debarquement","equivalent_identifiers":["MONDO:0016217","orphanet:210272","UMLS:C1608983","MESH:C537840","MEDDRA:10064924","SNOMEDCT:446079007","medgen:345629","icd11.foundation:459420954"],"information_content":100.0}
{"id":"MONDO:0016219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysmorphism-pectus carinatum-joint laxity syndrome","equivalent_identifiers":["MONDO:0016219","orphanet:2104","UMLS:C4518558","SNOMEDCT:733038005","medgen:1385827"],"information_content":100.0}
{"id":"MONDO:0016225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"specific learning disability","equivalent_identifiers":["MONDO:0016225","orphanet:211047","UMLS:C4025790","UMLS:C4042933","MESH:D000067559","medgen:871302","HP:0001328"],"information_content":87.2}
{"id":"MONDO:0016227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic ataxia","equivalent_identifiers":["MONDO:0016227","DOID:963","OMIM.PS:160120","orphanet:211062","EFO:1000638","UMLS:C1720189","MESH:C580065","MEDDRA:10067447","SNOMEDCT:421455009","medgen:314033","icd11.foundation:423095680","HP:0002131"],"information_content":84.8}
{"id":"MONDO:0016231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"capillary malformation","equivalent_identifiers":["MONDO:0016231","orphanet:211247","UMLS:C0340803","MESH:C562760","MEDDRA:10089079","SNOMEDCT:234118009","medgen:90955","HP:0025104"],"information_content":80.9}
{"id":"MONDO:0016236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kaposiform hemangioendothelioma","equivalent_identifiers":["MONDO:0016236","orphanet:2122","UMLS:C1367420","MESH:C537007","MEDDRA:10087551","MEDDRA:10087552","NCIT:C27510","SNOMEDCT:403983000","medgen:234548"],"information_content":95.4}
{"id":"MONDO:0016237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse neonatal hemangiomatosis","equivalent_identifiers":["MONDO:0016237","orphanet:2123","UMLS:C0474965","SNOMEDCT:254782003","medgen:96888"],"information_content":100.0}
{"id":"MONDO:0016238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"solitary fibrous tumor","equivalent_identifiers":["MONDO:0016238","orphanet:2126","UMLS:C1266119","MESH:D054364","MEDDRA:10024773","MEDDRA:10062468","MEDDRA:10082804","MEDDRA:10082807","NCIT:C7634","medgen:224764"],"information_content":77.3}
{"id":"MONDO:0016239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystinosis","equivalent_identifiers":["MONDO:0016239","DOID:1064","orphanet:213","UMLS:C4316899","MESH:D003554","MEDDRA:10011777","NCIT:C2976","SNOMEDCT:190681003","medgen:1384792","icd11.foundation:733715856"],"information_content":89.4}
{"id":"MONDO:0016241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alternating hemiplegia of childhood","equivalent_identifiers":["MONDO:0016241","DOID:0050635","OMIM.PS:104290","orphanet:2131","UMLS:C0338488","MESH:C536589","MEDDRA:10077948","NCIT:C35261","SNOMEDCT:230466004","medgen:90925","icd11.foundation:301329822","ICD10:G98"],"information_content":89.4}
{"id":"MONDO:0016242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hb C disease","equivalent_identifiers":["MONDO:0016242","DOID:2859","orphanet:2132","UMLS:C0019021","UMLS:C2930818","MESH:C531699","MESH:D006445","MEDDRA:10018883","MEDDRA:10055596","NCIT:C34675","SNOMEDCT:51053007","medgen:6789","ICD10:D58.2"],"information_content":92.8}
{"id":"MONDO:0016243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobin E disease","equivalent_identifiers":["MONDO:0016243","DOID:5379","orphanet:2133","UMLS:C0238159","MEDDRA:10053215","MEDDRA:10053224","MEDDRA:10055597","MEDDRA:10055613","NCIT:C35287","SNOMEDCT:25065001","medgen:68658","icd11.foundation:1898135714"],"information_content":100.0}
{"id":"MONDO:0016244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical hemolytic-uremic syndrome","equivalent_identifiers":["MONDO:0016244","DOID:0080301","orphanet:2134","UMLS:C2931788","MESH:D065766","MEDDRA:10079840","MEDDRA:10079841","MEDDRA:10079842","NCIT:C123223","SNOMEDCT:789660001","medgen:444141"],"information_content":84.2}
{"id":"MONDO:0016256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hennekam syndrome","equivalent_identifiers":["MONDO:0016256","DOID:0060366","OMIM.PS:235510","orphanet:2136","UMLS:C0340834","MESH:C537255","SNOMEDCT:234146006","medgen:137946"],"information_content":90.9}
{"id":"MONDO:0016262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leiomyosarcoma of the corpus uteri","equivalent_identifiers":["MONDO:0016262","DOID:5289","orphanet:213625","EFO:1001974","UMLS:C0280631","MEDDRA:10046799","NCIT:C6340","SNOMEDCT:447389009","SNOMEDCT:770559003","medgen:83679","HP:0002891"],"information_content":80.2}
{"id":"MONDO:0016264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune hepatitis","equivalent_identifiers":["MONDO:0016264","DOID:2048","orphanet:2137","EFO:0005676","UMLS:C0241910","UMLS:C1332355","UMLS:C4721555","MESH:D019693","MEDDRA:10003827","MEDDRA:10019730","NCIT:C27029","NCIT:C27778","SNOMEDCT:16098491000119109","SNOMEDCT:408335007","medgen:1666753","icd11.foundation:1235727122","ICD9:571.42"],"information_content":87.2}
{"id":"MONDO:0016268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary carcinoma of the corpus uteri","equivalent_identifiers":["MONDO:0016268","orphanet:213726","UMLS:C5679804","SNOMEDCT:1230318000","medgen:1805139"],"information_content":100.0}
{"id":"MONDO:0016281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XX ovotesticular disorder of sex development","equivalent_identifiers":["MONDO:0016281","orphanet:2138","UMLS:C4288538","UMLS:C5679613","MESH:D050090","NCIT:C127167","NCIT:C127172","SNOMEDCT:1234906009","SNOMEDCT:18978002","medgen:1814438"],"information_content":100.0}
{"id":"MONDO:0016290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hernández-Aguirre Negrete syndrome","equivalent_identifiers":["MONDO:0016290","orphanet:2139","UMLS:C2931736","MESH:C538112","SNOMEDCT:721146009","medgen:419481"],"information_content":100.0}
{"id":"MONDO:0016291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis, Herrmann-Opitz type","equivalent_identifiers":["MONDO:0016291","orphanet:2145","UMLS:C4706536","SNOMEDCT:763684005","medgen:1633959","icd11.foundation:2048918601"],"information_content":100.0}
{"id":"MONDO:0016292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular neuronal heterotopia","equivalent_identifiers":["MONDO:0016292","orphanet:2149","UMLS:C0431378","UMLS:C5680679","SNOMEDCT:253151003","medgen:1842941","icd11.foundation:143592859"],"information_content":83.6}
{"id":"MONDO:0016293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital stationary night blindness","equivalent_identifiers":["MONDO:0016293","DOID:0050534","DOID:8498","OMIM.PS:310500","orphanet:215","UMLS:C0339535","UMLS:C3551052","UMLS:C5848243","MESH:C536122","MEDDRA:10010559","SNOMEDCT:193687000","SNOMEDCT:232061009","medgen:83289","icd11.foundation:122338861","icd11.foundation:587494652","ICD10:H53.63","ICD9:368.61","HP:0007642"],"information_content":80.6}
{"id":"MONDO:0016294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease-type D brachydactyly syndrome","equivalent_identifiers":["MONDO:0016294","OMIM:306980","orphanet:2150","UMLS:C1844017","MESH:C538319","medgen:375339"],"information_content":100.0}
{"id":"MONDO:0016296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly","equivalent_identifiers":["MONDO:0016296","DOID:4621","OMIM.PS:236100","orphanet:2162","UMLS:C0079541","MESH:D016142","MEDDRA:10056304","NCIT:C74988","SNOMEDCT:30915001","medgen:38214","icd11.foundation:1712699129","ICD10:Q04.2","HP:0001360"],"information_content":80.2}
{"id":"MONDO:0016299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly-caudal dysgenesis syndrome","equivalent_identifiers":["MONDO:0016299","orphanet:2165","UMLS:C4749731","SNOMEDCT:771146007","medgen:1653112"],"information_content":100.0}
{"id":"MONDO:0016301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenitally corrected transposition of the great arteries","equivalent_identifiers":["MONDO:0016301","orphanet:216694","UMLS:C0232301","UMLS:C0344616","UMLS:C3274488","MESH:D000080041","MEDDRA:10011120","NCIT:C98902","SNOMEDCT:56743000","SNOMEDCT:83799000","medgen:87489","icd11.foundation:254915185","ICD10:Q20.5","HP:0011540"],"information_content":100.0}
{"id":"MONDO:0016302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated congenitally uncorrected transposition of the great arteries","equivalent_identifiers":["MONDO:0016302","orphanet:216718","UMLS:C5679810","medgen:1842921"],"information_content":100.0}
{"id":"MONDO:0016303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenitally uncorrected transposition of the great arteries with cardiac malformation","equivalent_identifiers":["MONDO:0016303","orphanet:216729","UMLS:C5679811","medgen:1843053"],"information_content":100.0}
{"id":"MONDO:0016304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic pantothenate kinase-associated neurodegeneration","equivalent_identifiers":["MONDO:0016304","orphanet:216866","UMLS:C5679812","medgen:1826057"],"information_content":100.0}
{"id":"MONDO:0016305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical pantothenate kinase-associated neurodegeneration","equivalent_identifiers":["MONDO:0016305","orphanet:216873","UMLS:C5568621","SNOMEDCT:1186856001","medgen:1800044"],"information_content":100.0}
{"id":"MONDO:0016306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease type C, severe perinatal form","equivalent_identifiers":["MONDO:0016306","orphanet:216972","UMLS:C5680866","medgen:1842349"],"information_content":100.0}
{"id":"MONDO:0016307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease type C, severe early infantile neurologic onset","equivalent_identifiers":["MONDO:0016307","orphanet:216975","UMLS:C5680868","medgen:1842400","icd11.foundation:587642791"],"information_content":100.0}
{"id":"MONDO:0016308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease type C, late infantile neurologic onset","equivalent_identifiers":["MONDO:0016308","orphanet:216978","UMLS:C5680867","medgen:1843353","icd11.foundation:2075382821"],"information_content":100.0}
{"id":"MONDO:0016309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease type C, juvenile neurologic onset","equivalent_identifiers":["MONDO:0016309","orphanet:216981","UMLS:C5679813","medgen:1842257","icd11.foundation:2006062681"],"information_content":100.0}
{"id":"MONDO:0016310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease type C, adult neurologic onset","equivalent_identifiers":["MONDO:0016310","orphanet:216986","UMLS:C5680869","medgen:1826101","icd11.foundation:77127214"],"information_content":100.0}
{"id":"MONDO:0016315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 2, severe form","equivalent_identifiers":["MONDO:0016315","orphanet:217085","UMLS:C0342841","SNOMEDCT:73146005","medgen:575246"],"information_content":100.0}
{"id":"MONDO:0016316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 2, attenuated form","equivalent_identifiers":["MONDO:0016316","orphanet:217093","UMLS:C0342842","UMLS:C5679815","SNOMEDCT:5667009","medgen:1826165"],"information_content":100.0}
{"id":"MONDO:0016318","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive multifocal leukoencephalopathy","equivalent_identifiers":["MONDO:0016318","DOID:643","orphanet:217260","EFO:0007455","UMLS:C0023524","MESH:D007968","MEDDRA:10036806","MEDDRA:10036807","NCIT:C26815","SNOMEDCT:22255007","medgen:7327","icd11.foundation:902939755","ICD10:A81.2","ICD9:046.3"],"information_content":100.0}
{"id":"MONDO:0016323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic respiratory distress with surfactant metabolism deficiency","equivalent_identifiers":["MONDO:0016323","orphanet:217566","UMLS:C5190853","SNOMEDCT:783182004","medgen:1679491"],"information_content":100.0}
{"id":"MONDO:0016331","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile systemic hyalinosis","equivalent_identifiers":["MONDO:0016331","orphanet:2176","UMLS:C5574678","SNOMEDCT:238867003","medgen:1803732","icd11.foundation:2089325724"],"information_content":100.0}
{"id":"MONDO:0016344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydranencephaly","equivalent_identifiers":["MONDO:0016344","DOID:4626","orphanet:2177","UMLS:C0020225","MESH:D006832","MEDDRA:10073472","NCIT:C98949","SNOMEDCT:30023002","medgen:6937","icd11.foundation:1963574608","HP:0002324"],"information_content":95.4}
{"id":"MONDO:0016346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrocephalus-obesity-hypogonadism syndrome","equivalent_identifiers":["MONDO:0016346","orphanet:2183","UMLS:C4303476","SNOMEDCT:721231007","medgen:929145"],"information_content":100.0}
{"id":"MONDO:0016349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital hydrocephalus","equivalent_identifiers":["MONDO:0016349","OMIM.PS:236600","orphanet:2185","UMLS:C0020256","MEDDRA:10010506","MEDDRA:10020511","NCIT:C98876","SNOMEDCT:47032000","medgen:9336","icd11.foundation:1878746673"],"information_content":85.5}
{"id":"MONDO:0016353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma-spastic paralysis syndrome","equivalent_identifiers":["MONDO:0016353","orphanet:2201","UMLS:C2931828","MESH:C538358","SNOMEDCT:785725008","medgen:444152"],"information_content":100.0}
{"id":"MONDO:0016354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum-Cockayne syndrome complex","equivalent_identifiers":["MONDO:0016354","orphanet:220295","UMLS:C4304411","NCIT:C156031","SNOMEDCT:719819004","medgen:930080","icd11.foundation:2002862606"],"information_content":87.2}
{"id":"MONDO:0016356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse cutaneous systemic sclerosis","equivalent_identifiers":["MONDO:0016356","orphanet:220393","NCIT:C116791"],"information_content":100.0}
{"id":"MONDO:0016358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sclerodactyly","equivalent_identifiers":["MONDO:0016358","DOID:1577","orphanet:220402","EFO:1001017","UMLS:C0150988","UMLS:C0748540","UMLS:C5574860","MESH:D045745","MEDDRA:10000606","NCIT:C197966","SNOMEDCT:201051000","SNOMEDCT:298285004","SNOMEDCT:299276009","medgen:148187","ICD10:L94.3","HP:0011838"],"information_content":95.4}
{"id":"MONDO:0016359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limited systemic sclerosis","equivalent_identifiers":["MONDO:0016359","orphanet:220407","UMLS:C1290138","MEDDRA:10079544","NCIT:C116789","SNOMEDCT:128461001","medgen:220934","icd11.foundation:187455179"],"information_content":100.0}
{"id":"MONDO:0016364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome with ocular defect","equivalent_identifiers":["MONDO:0016364","orphanet:220493","UMLS:C4274118","SNOMEDCT:716998009","medgen:909607","icd11.foundation:1358617785"],"information_content":88.2}
{"id":"MONDO:0016366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal phenylketonuria","equivalent_identifiers":["MONDO:0016366","orphanet:2209","UMLS:C0085547","MESH:D017042","SNOMEDCT:297225000","medgen:88435","icd11.foundation:1509230254"],"information_content":100.0}
{"id":"MONDO:0016367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatomyositis","equivalent_identifiers":["MONDO:0016367","DOID:10223","orphanet:221","EFO:0000398","UMLS:C0011633","MESH:D003882","MEDDRA:10012503","NCIT:C197520","NCIT:C26744","SNOMEDCT:396230008","medgen:8331","icd11.foundation:739030149","ICD10:M33","ICD9:710.3"],"information_content":82.6}
{"id":"MONDO:0016370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marchiafava-Bignami disease","equivalent_identifiers":["MONDO:0016370","orphanet:221074","EFO:1001809","UMLS:C0238265","MESH:D054319","MEDDRA:10026828","NCIT:C197857","SNOMEDCT:386766007","medgen:65955","icd11.foundation:1694687314"],"information_content":100.0}
{"id":"MONDO:0016372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glossopharyngeal neuralgia","equivalent_identifiers":["MONDO:0016372","DOID:14423","orphanet:221098","UMLS:C0154731","MEDDRA:10018391","SNOMEDCT:43763009","medgen:57595","ICD10:G52.1","ICD9:352.1"],"information_content":100.0}
{"id":"MONDO:0016373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Facial Myokymia","equivalent_identifiers":["MONDO:0016373","UMLS:C0270871","MEDDRA:10086154","SNOMEDCT:1070000","medgen:78741","HP:0000317"],"information_content":100.0}
{"id":"MONDO:0016378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal hyperthermia induced birth defects","equivalent_identifiers":["MONDO:0016378","orphanet:2216","UMLS:C4707329","SNOMEDCT:765138001","medgen:1631447","icd11.foundation:1917022285"],"information_content":100.0}
{"id":"MONDO:0016379","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erosive pustular dermatosis of the scalp","equivalent_identifiers":["MONDO:0016379","orphanet:222","UMLS:C0406464","MEDDRA:10088844","SNOMEDCT:238733003","medgen:96057","icd11.foundation:982719772"],"information_content":100.0}
{"id":"MONDO:0016380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired hypertrichosis lanuginosa","equivalent_identifiers":["MONDO:0016380","orphanet:2221","UMLS:C0263481","UMLS:C0343072","MEDDRA:10086659","SNOMEDCT:201160005","SNOMEDCT:25967007","medgen:87468","icd11.foundation:1885858920"],"information_content":100.0}
{"id":"MONDO:0016381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrichosis lanuginosa congenita","equivalent_identifiers":["MONDO:0016381","OMIM:145700","orphanet:2222","UMLS:C0235864","MESH:C538389","SNOMEDCT:201163007","SNOMEDCT:403799003","medgen:66727","icd11.foundation:199539869"],"information_content":92.8}
{"id":"MONDO:0016383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrogenic diabetes insipidus","equivalent_identifiers":["MONDO:0016383","DOID:12387","orphanet:223","UMLS:C0162283","MESH:D018500","MEDDRA:10012600","MEDDRA:10029147","NCIT:C84919","SNOMEDCT:111395007","medgen:57876","icd11.foundation:1417669099","ICD10:N25.1","ICD9:588.1","HP:0009806"],"information_content":92.8}
{"id":"MONDO:0016385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadism-mitral valve prolapse-intellectual disability syndrome","equivalent_identifiers":["MONDO:0016385","orphanet:2233","UMLS:C2931685","MESH:C537981","SNOMEDCT:721841001","medgen:444117"],"information_content":100.0}
{"id":"MONDO:0016386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism-retinitis pigmentosa syndrome","equivalent_identifiers":["MONDO:0016386","orphanet:2235","UMLS:C2931722","MESH:C538075","SNOMEDCT:733113002","medgen:419479"],"information_content":100.0}
{"id":"MONDO:0016390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypoparathyroidism","equivalent_identifiers":["MONDO:0016390","DOID:0111387","OMIM.PS:146200","orphanet:2238","UMLS:C1832648","MESH:C537156","MEDDRA:10090580","SNOMEDCT:725036000","medgen:322005","icd11.foundation:1907423603"],"information_content":86.3}
{"id":"MONDO:0016392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar hypoplasia-tapetoretinal degeneration syndrome","equivalent_identifiers":["MONDO:0016392","DOID:0070339","orphanet:2246","UMLS:C4275139","SNOMEDCT:715436007","medgen:902621"],"information_content":100.0}
{"id":"MONDO:0016394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sporadic infantile bilateral striatal necrosis","equivalent_identifiers":["MONDO:0016394","orphanet:225147","UMLS:C4087175","MEDDRA:10077451","SNOMEDCT:1010642001","medgen:1672494","icd11.foundation:1174703901"],"information_content":100.0}
{"id":"MONDO:0016395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"foveal hypoplasia-presenile cataract syndrome","equivalent_identifiers":["MONDO:0016395","orphanet:2253","UMLS:C2931644","MESH:C537858","SNOMEDCT:778042000","medgen:419129"],"information_content":100.0}
{"id":"MONDO:0016396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 1","equivalent_identifiers":["MONDO:0016396","DOID:0112322","orphanet:2254","UMLS:C5442006","MESH:C548069","SNOMEDCT:718610008","medgen:1780208","icd11.foundation:1227773923"],"information_content":90.9}
{"id":"MONDO:0016407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligomeganephronia","equivalent_identifiers":["MONDO:0016407","DOID:0111142","orphanet:2260","UMLS:C0431694","NCIT:C123202","SNOMEDCT:18417009","medgen:609100","icd11.foundation:1283447040"],"information_content":100.0}
{"id":"MONDO:0016410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central congenital hypothyroidism","equivalent_identifiers":["MONDO:0016410","orphanet:226298","UMLS:C0271801","UMLS:C4302200","MEDDRA:10086754","NCIT:C113144","SNOMEDCT:26692000","SNOMEDCT:722938007","medgen:927869","icd11.foundation:848364569","HP:0011787"],"information_content":88.2}
{"id":"MONDO:0016411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypothyroidism due to deficient transcription factors involved in pituitary development or function","equivalent_identifiers":["MONDO:0016411","orphanet:226307","UMLS:C4273672","SNOMEDCT:718194004","medgen:900830"],"information_content":100.0}
{"id":"MONDO:0016413","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital hypothyroidism due to maternal intake of antithyroid drugs","equivalent_identifiers":["MONDO:0016413","orphanet:226313","UMLS:C5190849","SNOMEDCT:783177006","medgen:1673658"],"information_content":100.0}
{"id":"MONDO:0016414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis-intellectual disability, Lopes type","equivalent_identifiers":["MONDO:0016414","orphanet:2266","UMLS:C4509839","SNOMEDCT:723365002","medgen:1371854"],"information_content":100.0}
{"id":"MONDO:0016416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diphallia","equivalent_identifiers":["MONDO:0016416","orphanet:227","UMLS:C0345322","SNOMEDCT:253851000","medgen:450542","icd11.foundation:1465839134","HP:0100599"],"information_content":100.0}
{"id":"MONDO:0016417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital ichthyosis-microcephalus-tetraplegia syndrome","equivalent_identifiers":["MONDO:0016417","orphanet:2271","UMLS:C5679626","SNOMEDCT:1197059004","medgen:1809863"],"information_content":100.0}
{"id":"MONDO:0016418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple system atrophy, cerebellar type","equivalent_identifiers":["MONDO:0016418","orphanet:227510","UMLS:C5554234","MEDDRA:10086131","medgen:1843304","icd11.foundation:1585600114"],"information_content":100.0}
{"id":"MONDO:0016419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary breast carcinoma","equivalent_identifiers":["MONDO:0016419","OMIM:114480","orphanet:227535","UMLS:C0346153","UMLS:C1861906","MESH:C562840","MESH:C566178","NCIT:C4503","SNOMEDCT:254843006","medgen:87542"],"information_content":85.5}
{"id":"MONDO:0016422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune polyendocrinopathy type 3","equivalent_identifiers":["MONDO:0016422","orphanet:227982","UMLS:C1535942","MEDDRA:10064115","SNOMEDCT:449731009","medgen:453060","icd11.foundation:1361747293"],"information_content":100.0}
{"id":"MONDO:0016423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune polyendocrinopathy type 4","equivalent_identifiers":["MONDO:0016423","orphanet:227990","UMLS:C3266026","SNOMEDCT:449730005","medgen:757804","icd11.foundation:1561026337"],"information_content":100.0}
{"id":"MONDO:0016424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome","equivalent_identifiers":["MONDO:0016424","orphanet:228012","UMLS:C4304831","SNOMEDCT:719272007","medgen:930500"],"information_content":100.0}
{"id":"MONDO:0016425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hughes-Stovin syndrome","equivalent_identifiers":["MONDO:0016425","orphanet:228116","UMLS:C4303478","SNOMEDCT:721226005","medgen:929147","icd11.foundation:1047123748"],"information_content":100.0}
{"id":"MONDO:0016426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fusariosis","equivalent_identifiers":["MONDO:0016426","DOID:0050289","orphanet:228119","EFO:1001795","UMLS:C0276758","MESH:D060585","MEDDRA:10051919","MEDDRA:10089361","SNOMEDCT:64250002","medgen:452375","icd11.foundation:565900954"],"information_content":100.0}
{"id":"MONDO:0016431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Charcot-Marie-Tooth disease type 2M","equivalent_identifiers":["MONDO:0016431","orphanet:228179","UMLS:C4304672","SNOMEDCT:719514002","medgen:930341","icd11.foundation:1601555981"],"information_content":100.0}
{"id":"MONDO:0016433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysmorphism-short stature-deafness-disorder of sex development syndrome","equivalent_identifiers":["MONDO:0016433","orphanet:2282","UMLS:C4518561","SNOMEDCT:733050004","medgen:1383129"],"information_content":100.0}
{"id":"MONDO:0016439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"elastoderma","equivalent_identifiers":["MONDO:0016439","orphanet:228240","UMLS:C0406555","SNOMEDCT:238832003","medgen:590504","icd11.foundation:1880397739"],"information_content":100.0}
{"id":"MONDO:0016444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anetoderma","equivalent_identifiers":["MONDO:0016444","orphanet:228272","UMLS:C0406550","UMLS:C0423421","UMLS:C1288283","MESH:D057088","MEDDRA:10086123","NCIT:C133885","SNOMEDCT:238828009","SNOMEDCT:238829001","medgen:98029","icd11.foundation:308286033","HP:0007401"],"information_content":92.8}
{"id":"MONDO:0016445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial anetoderma","equivalent_identifiers":["MONDO:0016445","orphanet:228277","UMLS:C4518793","SNOMEDCT:733467001","medgen:1387956"],"information_content":100.0}
{"id":"MONDO:0016453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"foodborne botulism","equivalent_identifiers":["MONDO:0016453","DOID:0050352","orphanet:228371","UMLS:C1739094","NCIT:C128341","SNOMEDCT:398523009","medgen:320728","icd11.foundation:2033726602"],"information_content":100.0}
{"id":"MONDO:0016454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 2B5","equivalent_identifiers":["MONDO:0016454","orphanet:228374","UMLS:C4749824","SNOMEDCT:771307003","medgen:1668955","icd11.foundation:1603286685"],"information_content":100.0}
{"id":"MONDO:0016456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"5q14.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0016456","orphanet:228384","UMLS:C4304529","SNOMEDCT:719661007","medgen:930198"],"information_content":100.0}
{"id":"MONDO:0016457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome","equivalent_identifiers":["MONDO:0016457","orphanet:228396","UMLS:C4510249","SNOMEDCT:724016008","medgen:1378529"],"information_content":100.0}
{"id":"MONDO:0016458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"8q12 microduplication syndrome","equivalent_identifiers":["MONDO:0016458","orphanet:228399","UMLS:C4304504","SNOMEDCT:719684000","medgen:930173"],"information_content":100.0}
{"id":"MONDO:0016459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2q23.1 microdeletion syndrome","equivalent_identifiers":["MONDO:0016459","orphanet:228402","UMLS:C4304532","SNOMEDCT:719657001","medgen:930201"],"information_content":100.0}
{"id":"MONDO:0016460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyvalvular heart disease syndrome","equivalent_identifiers":["MONDO:0016460","orphanet:228410","UMLS:C4509918","SNOMEDCT:723448007","medgen:1376905"],"information_content":92.8}
{"id":"MONDO:0016461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"5q35 microduplication syndrome","equivalent_identifiers":["MONDO:0016461","orphanet:228415","UMLS:C4304526","SNOMEDCT:719665003","medgen:930195"],"information_content":100.0}
{"id":"MONDO:0016462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated agammaglobulinemia","equivalent_identifiers":["MONDO:0016462","orphanet:229717","UMLS:C4707181","SNOMEDCT:764858009","medgen:1639972"],"information_content":84.2}
{"id":"MONDO:0016463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic agammaglobulinemia","equivalent_identifiers":["MONDO:0016463","orphanet:229720","UMLS:C0086438","UMLS:C4048270","UMLS:C5680904","MEDDRA:10020983","MEDDRA:10020985","MEDDRA:10020986","MEDDRA:10054427","MEDDRA:10060384","NCIT:C26931","SNOMEDCT:119250001","medgen:1843258","HP:0004313"],"information_content":69.8}
{"id":"MONDO:0016464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"insulin-resistance syndrome type B","equivalent_identifiers":["MONDO:0016464","orphanet:2298","UMLS:C0342337","SNOMEDCT:237652003","medgen:574967","icd11.foundation:408487090"],"information_content":100.0}
{"id":"MONDO:0016466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"asbestosis","equivalent_identifiers":["MONDO:0016466","DOID:10320","orphanet:2302","EFO:0007153","UMLS:C0003949","MESH:D001195","MEDDRA:10003441","NCIT:C84573","SNOMEDCT:22607003","medgen:2462","icd11.foundation:898495881","ICD10:J61","ICD9:501"],"information_content":100.0}
{"id":"MONDO:0016467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isotretinoin syndrome","equivalent_identifiers":["MONDO:0016467","orphanet:2305","UMLS:C2930972","UMLS:C5550990","MESH:C535670","MEDDRA:10073720","MEDDRA:10073722","NCIT:C98929","SNOMEDCT:1237226008","SNOMEDCT:36871005","medgen:419683"],"information_content":100.0}
{"id":"MONDO:0016468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxin-mediated infectious botulism","equivalent_identifiers":["MONDO:0016468","orphanet:230800","UMLS:C5679843","medgen:1842703","icd11.foundation:1373611689"],"information_content":89.4}
{"id":"MONDO:0016470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos/osteogenesis imperfecta syndrome","equivalent_identifiers":["MONDO:0016470","OMIM.PS:619115","orphanet:230857","UMLS:C1852924","UMLS:C4518787","MESH:C565178","SNOMEDCT:733457006","medgen:1386497"],"information_content":92.8}
{"id":"MONDO:0016471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pachyonychia congenita","equivalent_identifiers":["MONDO:0016471","DOID:0050449","OMIM.PS:167200","orphanet:2309","UMLS:C0265334","MESH:D053549","MEDDRA:10080088","NCIT:C84986","medgen:78556","icd11.foundation:1446983705"],"information_content":89.4}
{"id":"MONDO:0016472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dracunculiasis","equivalent_identifiers":["MONDO:0016472","DOID:14418","orphanet:231","EFO:0007241","UMLS:C0013100","MESH:D004320","MEDDRA:10013617","MEDDRA:10013618","MEDDRA:10091202","NCIT:C84677","SNOMEDCT:396334002","medgen:41653","icd11.foundation:1662537619","ICD10:B72","ICD9:125.7"],"information_content":100.0}
{"id":"MONDO:0016474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug-induced lupus erythematosus","equivalent_identifiers":["MONDO:0016474","DOID:0040093","orphanet:231111","UMLS:C0263591","MESH:C000730515","MEDDRA:10013706","NCIT:C114354","SNOMEDCT:201436003","SNOMEDCT:80258006","medgen:537988","icd11.foundation:1239818910","ICD10:M32.0"],"information_content":95.4}
{"id":"MONDO:0016479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silver-Russell syndrome due to 7p11.2p13 microduplication","equivalent_identifiers":["MONDO:0016479","orphanet:231137","UMLS:C5679840","medgen:1826059"],"information_content":100.0}
{"id":"MONDO:0016480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silver-Russell syndrome due to an imprinting defect of 11p15","equivalent_identifiers":["MONDO:0016480","orphanet:231140","UMLS:C5680916","medgen:1826102"],"information_content":100.0}
{"id":"MONDO:0016481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silver-Russell syndrome due to 11p15 microduplication","equivalent_identifiers":["MONDO:0016481","orphanet:231144","UMLS:C5680917","medgen:1826103"],"information_content":100.0}
{"id":"MONDO:0016482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silver-Russell syndrome due to maternal uniparental disomy of chromosome 11","equivalent_identifiers":["MONDO:0016482","orphanet:231147","UMLS:C5679841","medgen:1843295"],"information_content":100.0}
{"id":"MONDO:0016483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracranial berry aneurysm","equivalent_identifiers":["MONDO:0016483","DOID:0060228","OMIM.PS:105800","orphanet:231160","UMLS:C3839866","SNOMEDCT:703226008","medgen:825711","icd11.foundation:59881644"],"information_content":83.1}
{"id":"MONDO:0016484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 2","equivalent_identifiers":["MONDO:0016484","DOID:0110827","orphanet:231178","UMLS:C0339534","NCIT:C126328","SNOMEDCT:232058008","medgen:83288","icd11.foundation:33632175"],"information_content":90.9}
{"id":"MONDO:0016485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 3","equivalent_identifiers":["MONDO:0016485","DOID:0110828","orphanet:231183","UMLS:C1568248","NCIT:C126329","SNOMEDCT:1010610007","medgen:339336","icd11.foundation:1734357568"],"information_content":90.9}
{"id":"MONDO:0016486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cooley's anemia","equivalent_identifiers":["MONDO:0016486","DOID:0080771","orphanet:231214","UMLS:C0002875","MEDDRA:10010928","MEDDRA:10043392","MEDDRA:10054661","MEDDRA:10055203","MEDDRA:10080050","MEDDRA:10080052","MEDDRA:10090216","MEDDRA:10090217","NCIT:C129699","SNOMEDCT:26682008","SNOMEDCT:75451007","medgen:283"],"information_content":100.0}
{"id":"MONDO:0016487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta-thalassemia intermedia","equivalent_identifiers":["MONDO:0016487","DOID:0080772","orphanet:231222","UMLS:C0472767","SNOMEDCT:191189009","medgen:450544"],"information_content":100.0}
{"id":"MONDO:0016489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"delta-beta-thalassemia","equivalent_identifiers":["MONDO:0016489","DOID:0080773","OMIM:141749","orphanet:231237","UMLS:C0271985","UMLS:C1841621","MESH:C562716","MEDDRA:10012236","MEDDRA:10054370","NCIT:C172823","SNOMEDCT:16360009","medgen:78790"],"information_content":100.0}
{"id":"MONDO:0016490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobin C-beta-thalassemia syndrome","equivalent_identifiers":["MONDO:0016490","orphanet:231242","UMLS:C0221020","MEDDRA:10085823","MEDDRA:10085826","SNOMEDCT:61777009","medgen:526128"],"information_content":100.0}
{"id":"MONDO:0016491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobin E-beta-thalassemia syndrome","equivalent_identifiers":["MONDO:0016491","orphanet:231249","UMLS:C0472777","SNOMEDCT:234392002","medgen:632783"],"information_content":100.0}
{"id":"MONDO:0016497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paraparetic variant of Guillain-Barre syndrome","equivalent_identifiers":["MONDO:0016497","orphanet:231445","UMLS:C4707803","SNOMEDCT:766722008","medgen:1644763"],"information_content":100.0}
{"id":"MONDO:0016501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome with pulmonary fibrosis","equivalent_identifiers":["MONDO:0016501","orphanet:231500","UMLS:C5679834","medgen:1843223","icd11.foundation:1086187623"],"information_content":92.8}
{"id":"MONDO:0016502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome without pulmonary fibrosis","equivalent_identifiers":["MONDO:0016502","orphanet:231512","UMLS:C5679833","medgen:1842321","icd11.foundation:1363499932"],"information_content":90.9}
{"id":"MONDO:0016504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary unilateral adrenal hyperplasia","equivalent_identifiers":["MONDO:0016504","orphanet:231580","UMLS:C4274967","SNOMEDCT:715868005","medgen:905007","icd11.foundation:1653668765"],"information_content":100.0}
{"id":"MONDO:0016505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aldosterone-producing adrenal cortex adenoma","equivalent_identifiers":["MONDO:0016505","orphanet:231625","EFO:1000015","UMLS:C1706762","UMLS:CN226945","NCIT:C48451","medgen:353374"],"information_content":85.5}
{"id":"MONDO:0016506","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectopic aldosterone-producing tumor","equivalent_identifiers":["MONDO:0016506","orphanet:231632","UMLS:C4755311","SNOMEDCT:778064009","medgen:1654612"],"information_content":100.0}
{"id":"MONDO:0016509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome","equivalent_identifiers":["MONDO:0016509","orphanet:231736","UMLS:C4751163","SNOMEDCT:773690008","medgen:1667341"],"information_content":100.0}
{"id":"MONDO:0016512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kabuki syndrome","equivalent_identifiers":["MONDO:0016512","DOID:0060473","OMIM.PS:147920","orphanet:2322","UMLS:C0796004","MESH:C537705","MEDDRA:10063935","MEDDRA:10063936","NCIT:C124837","SNOMEDCT:313426007","medgen:162897","icd11.foundation:1104246467"],"information_content":92.8}
{"id":"MONDO:0016514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex with anodontia/hypodontia","equivalent_identifiers":["MONDO:0016514","orphanet:2325","UMLS:C0432313","SNOMEDCT:254177003","medgen:609450"],"information_content":100.0}
{"id":"MONDO:0016515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kallmann syndrome-heart disease syndrome","equivalent_identifiers":["MONDO:0016515","orphanet:2326","UMLS:C4302897","SNOMEDCT:722027009","medgen:928566"],"information_content":100.0}
{"id":"MONDO:0016521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular pseudohypertrophy-hypothyroidism syndrome","equivalent_identifiers":["MONDO:0016521","orphanet:2349","UMLS:C0270958","MEDDRA:10090560","MEDDRA:10090563","SNOMEDCT:716338001","medgen:82860"],"information_content":100.0}
{"id":"MONDO:0016523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchogenic cyst","equivalent_identifiers":["MONDO:0016523","orphanet:2357","UMLS:C0006281","MESH:D001994","MEDDRA:10051546","MEDDRA:10063064","MEDDRA:10064585","SNOMEDCT:268194008","SNOMEDCT:762195006","SNOMEDCT:9550003","medgen:668","icd11.foundation:355400995","HP:0100730"],"information_content":100.0}
{"id":"MONDO:0016526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 9p","equivalent_identifiers":["MONDO:0016526","orphanet:236","orphanet:262767","UMLS:C0265428","MESH:C538026","SNOMEDCT:77527000","medgen:120539","icd11.foundation:1126301219"],"information_content":100.0}
{"id":"MONDO:0016527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to lactate dehydrogenase deficiency","equivalent_identifiers":["MONDO:0016527","orphanet:2364","UMLS:C0342769","UMLS:C5575057","MESH:C580233","SNOMEDCT:1186809004","SNOMEDCT:124115002","medgen:1805539","icd11.foundation:1092207912"],"information_content":95.4}
{"id":"MONDO:0016528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limb body wall complex","equivalent_identifiers":["MONDO:0016528","orphanet:2369","UMLS:C4274839","MEDDRA:10090905","MEDDRA:10090907","SNOMEDCT:716106000","medgen:906212","icd11.foundation:353005375"],"information_content":100.0}
{"id":"MONDO:0016529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Double urethra","equivalent_identifiers":["MONDO:0016529","orphanet:237","UMLS:C0266348","SNOMEDCT:69015003","medgen:75609","icd11.foundation:2069509755"],"information_content":100.0}
{"id":"MONDO:0016531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digestive duplication","equivalent_identifiers":["MONDO:0016531","UMLS:C0266019","SNOMEDCT:33257003","medgen:451018","HP:0011140"],"information_content":89.4}
{"id":"MONDO:0016532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lennox-Gastaut syndrome","equivalent_identifiers":["MONDO:0016532","DOID:0050561","OMIM:606369","orphanet:2382","UMLS:C0238111","UMLS:C3807541","MESH:D065768","MEDDRA:10048816","NCIT:C84816","SNOMEDCT:230418006","medgen:116044","icd11.foundation:651135242"],"information_content":90.9}
{"id":"MONDO:0016533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"apolipoprotein A-II amyloidosis","equivalent_identifiers":["MONDO:0016533","orphanet:238269","UMLS:C5679845","medgen:1842484"],"information_content":100.0}
{"id":"MONDO:0016535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypohidrotic ectodermal dysplasia","equivalent_identifiers":["MONDO:0016535","DOID:14793","orphanet:238468","UMLS:C5848103","NCIT:C84562","medgen:1853123","icd11.foundation:673167184"],"information_content":84.2}
{"id":"MONDO:0016537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphoproliferative syndrome","equivalent_identifiers":["MONDO:0016537","DOID:0060704","OMIM.PS:308240","UMLS:C0024314","MESH:D008232","MEDDRA:10025351","MEDDRA:10061232","NCIT:C9308","SNOMEDCT:277466009","SNOMEDCT:414629003","SNOMEDCT:84631004","medgen:6162","HP:0005523"],"information_content":49.4}
{"id":"MONDO:0016539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical hypotonia-cystinuria syndrome","equivalent_identifiers":["MONDO:0016539","orphanet:238523","UMLS:C4755274","SNOMEDCT:778025006","medgen:1668791","icd11.foundation:1982772708"],"information_content":100.0}
{"id":"MONDO:0016542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IL10-related early-onset inflammatory bowel disease","equivalent_identifiers":["MONDO:0016542","orphanet:238569","UMLS:C4749850","SNOMEDCT:771333006","medgen:1661450"],"information_content":92.8}
{"id":"MONDO:0016543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperphenylalaninemia due to tetrahydrobiopterin deficiency","equivalent_identifiers":["MONDO:0016543","orphanet:238583","UMLS:C0751435","UMLS:C0751436","MEDDRA:10069116","MEDDRA:10084106","MEDDRA:10084114","SNOMEDCT:68528007","SNOMEDCT:68724006","medgen:199656","HP:0004923"],"information_content":89.4}
{"id":"MONDO:0016545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy-palmoplantar keratoderma syndrome","equivalent_identifiers":["MONDO:0016545","orphanet:2386","UMLS:C4749769","SNOMEDCT:771184001","medgen:1652044"],"information_content":100.0}
{"id":"MONDO:0016546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary orthostatic tremor","equivalent_identifiers":["MONDO:0016546","orphanet:238606","UMLS:C0878578","MESH:C536418","SNOMEDCT:715902009","medgen:164206"],"information_content":100.0}
{"id":"MONDO:0016557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukonychia totalis","equivalent_identifiers":["MONDO:0016557","orphanet:2387","UMLS:C4551625","MESH:C535889","SNOMEDCT:763792009","medgen:1641555"],"information_content":100.0}
{"id":"MONDO:0016558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial congenital mirror movements","equivalent_identifiers":["MONDO:0016558","DOID:0111153","OMIM.PS:157600","orphanet:238722","UMLS:C0454455","UMLS:C5191311","SNOMEDCT:229247004","SNOMEDCT:784348007","medgen:473166","icd11.foundation:1966778637","HP:0001335"],"information_content":88.2}
{"id":"MONDO:0016559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucoma secondary to spherophakia/ectopia lentis and megalocornea","equivalent_identifiers":["MONDO:0016559","orphanet:238763","UMLS:C5190883","SNOMEDCT:783246000","medgen:1674483"],"information_content":100.0}
{"id":"MONDO:0016561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"1q44 microdeletion syndrome","equivalent_identifiers":["MONDO:0016561","orphanet:238769","UMLS:C4304540","SNOMEDCT:719649004","medgen:930209"],"information_content":100.0}
{"id":"MONDO:0016562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PSP-PAGF","equivalent_identifiers":["MONDO:0016562","orphanet:240094","UMLS:C5679851","medgen:1843032"],"information_content":100.0}
{"id":"MONDO:0016563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive supranuclear palsy-corticobasal syndrome","equivalent_identifiers":["MONDO:0016563","orphanet:240103","UMLS:C5548189","SNOMEDCT:1156763004","medgen:1781130"],"information_content":100.0}
{"id":"MONDO:0016564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PSP-AOS","equivalent_identifiers":["MONDO:0016564","orphanet:240112","UMLS:C5679850","medgen:1842806"],"information_content":100.0}
{"id":"MONDO:0016567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Locked-In State","equivalent_identifiers":["MONDO:0016567","DOID:12697","orphanet:2406","UMLS:C0023944","MESH:D000080422","MEDDRA:10024791","MEDDRA:10024792","NCIT:C197925","SNOMEDCT:38023001","medgen:7378","icd11.foundation:17562655","ICD10:G83.5","ICD9:344.81"],"information_content":100.0}
{"id":"MONDO:0016568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lowe-Kohn-Cohen syndrome","equivalent_identifiers":["MONDO:0016568","orphanet:2408","UMLS:C2931080","UMLS:C4707726","MESH:C535996","SNOMEDCT:766249007","medgen:443973","icd11.foundation:2061193977"],"information_content":100.0}
{"id":"MONDO:0016573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute fatty liver of pregnancy","equivalent_identifiers":["MONDO:0016573","orphanet:243367","UMLS:C1455728","MESH:C537957","MEDDRA:10000746","SNOMEDCT:716379000","medgen:264102","icd11.foundation:1226221530"],"information_content":100.0}
{"id":"MONDO:0016574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome","equivalent_identifiers":["MONDO:0016574","orphanet:2435","UMLS:C1835172","MESH:C537836","SNOMEDCT:733469003","medgen:371988"],"information_content":100.0}
{"id":"MONDO:0016575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia","equivalent_identifiers":["MONDO:0016575","DOID:0050144","DOID:50144","DOID:9562","OMIM.PS:244400","orphanet:244","EFO:1001352","UMLS:C0008780","UMLS:C0022521","UMLS:C4317124","UMLS:C4551720","MESH:D002925","MESH:D007619","MEDDRA:10023299","MEDDRA:10060882","MEDDRA:10069713","NCIT:C84638","NCIT:C84797","SNOMEDCT:42402006","SNOMEDCT:86204009","medgen:3467","icd11.foundation:1713839459","HP:0012265"],"information_content":73.0}
{"id":"MONDO:0016576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ectrodactyly","equivalent_identifiers":["MONDO:0016576","DOID:0090020","OMIM.PS:183600","orphanet:2440","UMLS:C0265554","MESH:C574275","MEDDRA:10079827","NCIT:C75000","SNOMEDCT:13624003","SNOMEDCT:81208006","medgen:78566","HP:0100257"],"information_content":87.2}
{"id":"MONDO:0016577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biliary atresia with splenic malformation syndrome","equivalent_identifiers":["MONDO:0016577","orphanet:244283","UMLS:C4274029","SNOMEDCT:717156002","medgen:907806"],"information_content":100.0}
{"id":"MONDO:0016580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital pulmonary airway malformation","equivalent_identifiers":["MONDO:0016580","orphanet:2444","UMLS:C0010668","MESH:D015615","MEDDRA:10087693","MEDDRA:10087694","NCIT:C98892","SNOMEDCT:111318005","medgen:8225","icd11.foundation:2091138945","HP:0010959"],"information_content":88.2}
{"id":"MONDO:0016581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conotruncal heart malformations","equivalent_identifiers":["MONDO:0016581","OMIM:217095","orphanet:2445","UMLS:C0795907","UMLS:C1857586","MESH:C535464","SNOMEDCT:218728005","medgen:341803"],"information_content":79.9}
{"id":"MONDO:0016584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibuloacral dysplasia","equivalent_identifiers":["MONDO:0016584","DOID:0081127","OMIM.PS:248370","orphanet:2457","UMLS:C0432291","medgen:98485","icd11.foundation:1687046570"],"information_content":92.8}
{"id":"MONDO:0016591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sporadic adult-onset ataxia of unknown etiology","equivalent_identifiers":["MONDO:0016591","orphanet:247234","UMLS:C4518339","SNOMEDCT:734023003","medgen:1383968"],"information_content":100.0}
{"id":"MONDO:0016594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"superficial siderosis","equivalent_identifiers":["MONDO:0016594","orphanet:247245","UMLS:C2938918","MEDDRA:10070564","SNOMEDCT:733200004","medgen:1371500"],"information_content":100.0}
{"id":"MONDO:0016595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inhalational anthrax","equivalent_identifiers":["MONDO:0016595","DOID:0050160","orphanet:247257","UMLS:C0155866","MESH:C571912","MEDDRA:10035667","MEDDRA:10035704","MEDDRA:10037321","SNOMEDCT:11389007","SNOMEDCT:195902009","medgen:57841"],"information_content":100.0}
{"id":"MONDO:0016596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperphosphatasia-intellectual disability syndrome","equivalent_identifiers":["MONDO:0016596","DOID:0070431","OMIM.PS:239300","orphanet:247262","UMLS:C1855923","MESH:C565495","SNOMEDCT:33982008","medgen:383800"],"information_content":87.2}
{"id":"MONDO:0016598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive secondary polycythemia not associated with VHL gene","equivalent_identifiers":["MONDO:0016598","orphanet:247378"],"information_content":100.0}
{"id":"MONDO:0016600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute neonatal citrullinemia type I","equivalent_identifiers":["MONDO:0016600","orphanet:247546","UMLS:C5679618","medgen:1843387"],"information_content":100.0}
{"id":"MONDO:0016601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset citrullinemia type I","equivalent_identifiers":["MONDO:0016601","orphanet:247573"],"information_content":100.0}
{"id":"MONDO:0016603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"citrullinemia type II","equivalent_identifiers":["MONDO:0016603","orphanet:247585","UMLS:C1863844","MESH:C538053","MEDDRA:10079141","MEDDRA:10079144","NCIT:C150603","SNOMEDCT:716863007","medgen:350276"],"information_content":90.9}
{"id":"MONDO:0016604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysraphism-cleft lip/palate-limb reduction defects syndrome","equivalent_identifiers":["MONDO:0016604","orphanet:2476","UMLS:C5679624","SNOMEDCT:1208338004","medgen:1809965"],"information_content":100.0}
{"id":"MONDO:0016605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"perinatal lethal hypophosphatasia","equivalent_identifiers":["MONDO:0016605","DOID:0110914","OMIM:241500","orphanet:247623","EFO:0021797","UMLS:C0268412","UMLS:C2673477","UMLS:C5700114","MESH:C562646","MESH:C567107","SNOMEDCT:55236002","medgen:392928","HP:0003239"],"information_content":100.0}
{"id":"MONDO:0016607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontohypophosphatasia","equivalent_identifiers":["MONDO:0016607","DOID:0110913","OMIM:146300","orphanet:247685","EFO:0021431","UMLS:C0268413","UMLS:C1840322","MESH:C562647","MESH:C564146","NCIT:C131309","SNOMEDCT:20756002","SNOMEDCT:708672004","medgen:326709"],"information_content":100.0}
{"id":"MONDO:0016608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephaly","equivalent_identifiers":["MONDO:0016608","orphanet:2477","UMLS:C0221355","UMLS:C2720434","MESH:D058627","MEDDRA:10049499","MEDDRA:10050183","MEDDRA:10088459","MEDDRA:10088460","MEDDRA:10088461","NCIT:C35268","SNOMEDCT:12138000","SNOMEDCT:19410003","SNOMEDCT:9740002","medgen:65141","icd11.foundation:368780653","HP:0001355"],"information_content":83.6}
{"id":"MONDO:0016614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive ataxia due to PEX10 deficiency","equivalent_identifiers":["MONDO:0016614","orphanet:247815","UMLS:C5679614","medgen:1843173"],"information_content":100.0}
{"id":"MONDO:0016619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive hypohidrotic ectodermal dysplasia","equivalent_identifiers":["MONDO:0016619","orphanet:248","UMLS:C0406702","MESH:D053360","NCIT:C84580","SNOMEDCT:27025001","medgen:96067","icd11.foundation:7083042"],"information_content":92.8}
{"id":"MONDO:0016620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary hypertrophic osteoarthropathy","equivalent_identifiers":["MONDO:0016620","DOID:14283","OMIM.PS:259100","orphanet:248095","orphanet:2796","UMLS:C0029411","MESH:D010004","MEDDRA:10051686","NCIT:C85023","SNOMEDCT:223726008","SNOMEDCT:88220006","medgen:18210","icd11.foundation:792225761"],"information_content":89.4}
{"id":"MONDO:0016621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile Huntington disease","equivalent_identifiers":["MONDO:0016621","orphanet:248111","UMLS:C0751208","NCIT:C147072","SNOMEDCT:230299004","medgen:155518"],"information_content":100.0}
{"id":"MONDO:0016630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated delta-storage pool disease","equivalent_identifiers":["MONDO:0016630","orphanet:248340","icd11.foundation:2133567182"],"information_content":100.0}
{"id":"MONDO:0016638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypodysfibrinogenemia","equivalent_identifiers":["MONDO:0016638","orphanet:248408","UMLS:C1859970","MESH:C565970","medgen:347987"],"information_content":100.0}
{"id":"MONDO:0016639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lower limb deficiency-hypospadias syndrome","equivalent_identifiers":["MONDO:0016639","orphanet:2487","UMLS:C2930962","MESH:C535640","SNOMEDCT:770561007","medgen:418952"],"information_content":100.0}
{"id":"MONDO:0016641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limb transversal defect-cardiac anomaly syndrome","equivalent_identifiers":["MONDO:0016641","orphanet:2492","UMLS:C2931047","MESH:C535856","medgen:419705"],"information_content":100.0}
{"id":"MONDO:0016642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meningioma","equivalent_identifiers":["MONDO:0016642","DOID:3565","orphanet:2495","UMLS:C0025286","UMLS:C5139648","MESH:D008579","MEDDRA:10027191","NCIT:C3230","medgen:7532","icd11.foundation:672106711","ICD10:D32.9","HP:0002858"],"information_content":68.7}
{"id":"MONDO:0016648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple epiphyseal dysplasia","equivalent_identifiers":["MONDO:0016648","DOID:12721","OMIM.PS:132400","orphanet:251","UMLS:C0026760","MEDDRA:10013956","MEDDRA:10028197","SNOMEDCT:59708000","medgen:6461","icd11.foundation:2009123831","ICD9:756.56","HP:0002654"],"information_content":82.6}
{"id":"MONDO:0016649","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Warburg micro syndrome","equivalent_identifiers":["MONDO:0016649","DOID:0060237","OMIM.PS:600118","orphanet:2510","UMLS:C5442005","SNOMEDCT:772224009","medgen:1781286"],"information_content":89.4}
{"id":"MONDO:0016650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paternal uniparental disomy of chromosome 1","equivalent_identifiers":["MONDO:0016650","orphanet:251004","UMLS:C4707800","SNOMEDCT:766719006","medgen:1636519","icd11.foundation:1239235576"],"information_content":100.0}
{"id":"MONDO:0016651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal uniparental disomy of chromosome 1","equivalent_identifiers":["MONDO:0016651","orphanet:251009","UMLS:C4749302","SNOMEDCT:770562000","medgen:1665577","icd11.foundation:351448323"],"information_content":100.0}
{"id":"MONDO:0016652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2q31.1 microdeletion syndrome","equivalent_identifiers":["MONDO:0016652","orphanet:251014","UMLS:C4274647","SNOMEDCT:716387004","medgen:899856"],"information_content":100.0}
{"id":"MONDO:0016653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2q33.1 microdeletion syndrome","equivalent_identifiers":["MONDO:0016653","orphanet:251028","UMLS:C4706258","SNOMEDCT:763062006","medgen:1645054"],"information_content":100.0}
{"id":"MONDO:0016655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"6p22 microdeletion syndrome","equivalent_identifiers":["MONDO:0016655","orphanet:251046","UMLS:C4304528","SNOMEDCT:719662000","medgen:930197"],"information_content":100.0}
{"id":"MONDO:0016656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"7q31 microdeletion syndrome","equivalent_identifiers":["MONDO:0016656","orphanet:251061","UMLS:C4750783","SNOMEDCT:773326003","medgen:1664416"],"information_content":100.0}
{"id":"MONDO:0016657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"8p11.2 deletion syndrome","equivalent_identifiers":["MONDO:0016657","orphanet:251066","UMLS:C4304505","SNOMEDCT:719646006","medgen:930174"],"information_content":100.0}
{"id":"MONDO:0016658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"8p23.1 microdeletion syndrome","equivalent_identifiers":["MONDO:0016658","orphanet:251071","UMLS:C2931638","MESH:C537827","SNOMEDCT:716381003","medgen:419458"],"information_content":100.0}
{"id":"MONDO:0016659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"8p23.1 duplication syndrome","equivalent_identifiers":["MONDO:0016659","orphanet:251076","UMLS:C4707330","SNOMEDCT:765140006","medgen:1645138"],"information_content":100.0}
{"id":"MONDO:0016660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive primary microcephaly","equivalent_identifiers":["MONDO:0016660","DOID:0070296","OMIM.PS:251200","orphanet:2512","UMLS:C3711387","MESH:C579935","SNOMEDCT:715981004","medgen:777995"],"information_content":77.1}
{"id":"MONDO:0016669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sickle cell-hemoglobin c disease syndrome","equivalent_identifiers":["MONDO:0016669","orphanet:251365","EFO:1001797","UMLS:C0019034","MESH:D006450","MEDDRA:10018897","MEDDRA:10019175","MEDDRA:10055608","MEDDRA:10057072","NCIT:C34676","SNOMEDCT:35434009","medgen:5496"],"information_content":100.0}
{"id":"MONDO:0016670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sickle cell-hemoglobin d disease syndrome","equivalent_identifiers":["MONDO:0016670","orphanet:251370","UMLS:C0272084","MEDDRA:10056598","MEDDRA:10056724","NCIT:C155310","SNOMEDCT:25472008","medgen:452366"],"information_content":100.0}
{"id":"MONDO:0016671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sickle cell-hemoglobin E disease syndrome","equivalent_identifiers":["MONDO:0016671","orphanet:251375","UMLS:C1112747","MEDDRA:10056599","MEDDRA:10056725","NCIT:C155307","SNOMEDCT:47024008","medgen:1669602"],"information_content":100.0}
{"id":"MONDO:0016672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary persistence of fetal hemoglobin-sickle cell disease syndrome","equivalent_identifiers":["MONDO:0016672","orphanet:251380","UMLS:C5190890","SNOMEDCT:783254003","medgen:1679967"],"information_content":100.0}
{"id":"MONDO:0016673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"localized junctional epidermolysis bullosa, non-Herlitz type","equivalent_identifiers":["MONDO:0016673","orphanet:251393","UMLS:C5700116","SNOMEDCT:1254890002","medgen:1814511"],"information_content":100.0}
{"id":"MONDO:0016674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY partial gonadal dysgenesis","equivalent_identifiers":["MONDO:0016674","orphanet:251510","UMLS:C4510744","SNOMEDCT:725045004","medgen:1388250"],"information_content":86.3}
{"id":"MONDO:0016675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal arthrogryposis type 10","equivalent_identifiers":["MONDO:0016675","DOID:0111593","OMIM:187370","orphanet:251515","UMLS:C0555248","UMLS:C1861238","MESH:C566069","SNOMEDCT:1208482007","SNOMEDCT:275336002","medgen:349990"],"information_content":100.0}
{"id":"MONDO:0016681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gliosarcoma","equivalent_identifiers":["MONDO:0016681","DOID:3071","orphanet:251576","EFO:1001465","UMLS:C0206726","MESH:D018316","MEDDRA:10018340","NCIT:C3796","SNOMEDCT:35262004","medgen:64638"],"information_content":83.6}
{"id":"MONDO:0016682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"giant cell glioblastoma","equivalent_identifiers":["MONDO:0016682","DOID:3074","orphanet:251579","UMLS:C0334588","NCIT:C4325","SNOMEDCT:44529004","medgen:83169","icd11.foundation:565094124"],"information_content":85.5}
{"id":"MONDO:0016684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anaplastic astrocytoma","equivalent_identifiers":["MONDO:0016684","DOID:3078","orphanet:251589","EFO:0002499","UMLS:C0334579","MEDDRA:10002224","MEDDRA:10003572","MEDDRA:10060971","NCIT:C129292","NCIT:C9477","SNOMEDCT:55353007","medgen:137784"],"information_content":78.0}
{"id":"MONDO:0016687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"protoplasmic astrocytoma","equivalent_identifiers":["MONDO:0016687","DOID:7008","orphanet:251598","UMLS:C0334580","NCIT:C4320","SNOMEDCT:55094006","medgen:87268"],"information_content":92.8}
{"id":"MONDO:0016688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrillary astrocytoma","equivalent_identifiers":["MONDO:0016688","DOID:6726","orphanet:251601","UMLS:C0334582","MEDDRA:10065889","NCIT:C4322","SNOMEDCT:71314006","medgen:87270"],"information_content":92.8}
{"id":"MONDO:0016689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gemistocytic astrocytoma","equivalent_identifiers":["MONDO:0016689","DOID:7005","orphanet:251604","UMLS:C0334581","NCIT:C4321","SNOMEDCT:73982001","medgen:87269"],"information_content":90.9}
{"id":"MONDO:0016690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleomorphic xanthoastrocytoma","equivalent_identifiers":["MONDO:0016690","DOID:4852","orphanet:251607","UMLS:C0334586","MEDDRA:10085351","NCIT:C4323","SNOMEDCT:189924002","SNOMEDCT:78838008","medgen:137786","HP:0033682"],"information_content":89.4}
{"id":"MONDO:0016691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spongioblastoma","equivalent_identifiers":["MONDO:0016691","DOID:4851","orphanet:251612","UMLS:C0334583","UMLS:C0334584","NCIT:C4047","SNOMEDCT:128854008","SNOMEDCT:763865009","medgen:87271","HP:0033680"],"information_content":82.1}
{"id":"MONDO:0016692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pilomyxoid astrocytoma","equivalent_identifiers":["MONDO:0016692","DOID:4845","orphanet:251615","UMLS:C1519086","NCIT:C40315","SNOMEDCT:1157070004","SNOMEDCT:388600004","medgen:276757"],"information_content":90.9}
{"id":"MONDO:0016693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subependymal giant cell astrocytoma","equivalent_identifiers":["MONDO:0016693","DOID:5077","orphanet:251618","UMLS:C0205768","MEDDRA:10073233","NCIT:C3696","SNOMEDCT:1586004","SNOMEDCT:449799008","medgen:61446","HP:0009718"],"information_content":87.2}
{"id":"MONDO:0016695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligodendroglioma","equivalent_identifiers":["MONDO:0016695","DOID:3181","orphanet:251627","EFO:0000632","UMLS:C0028945","UMLS:C0751396","MESH:D009837","MEDDRA:10030286","NCIT:C129319","NCIT:C3288","SNOMEDCT:1156974002","SNOMEDCT:443936004","medgen:45190","HP:0033681"],"information_content":79.0}
{"id":"MONDO:0016696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anaplastic oligodendroglioma","equivalent_identifiers":["MONDO:0016696","DOID:7154","orphanet:251630","EFO:0002501","UMLS:C0334590","MEDDRA:10026659","MEDDRA:10030288","MEDDRA:10073128","NCIT:C129322","NCIT:C4326","SNOMEDCT:3102004","medgen:90812"],"information_content":82.6}
{"id":"MONDO:0016698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ependymoma","equivalent_identifiers":["MONDO:0016698","DOID:4844","orphanet:251636","EFO:1000028","UMLS:C0014474","UMLS:CN201941","MESH:D004806","MEDDRA:10014967","NCIT:C3017","SNOMEDCT:1186904005","SNOMEDCT:443643007","SNOMEDCT:57706008","medgen:41825","HP:0002888"],"information_content":73.8}
{"id":"MONDO:0016699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myxopapillary ependymoma","equivalent_identifiers":["MONDO:0016699","DOID:5075","orphanet:251643","UMLS:C0205769","MEDDRA:10014969","NCIT:C3697","SNOMEDCT:1623000","medgen:104717"],"information_content":92.8}
{"id":"MONDO:0016702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligoastrocytoma","equivalent_identifiers":["MONDO:0016702","DOID:7912","orphanet:251656","EFO:0000630","UMLS:C0280793","UMLS:C0547065","MEDDRA:10027744","MEDDRA:10027769","MEDDRA:10073131","NCIT:C129323","NCIT:C4050","SNOMEDCT:253071005","SNOMEDCT:716647001","medgen:154285"],"information_content":89.4}
{"id":"MONDO:0016703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anaplastic oligoastrocytoma","equivalent_identifiers":["MONDO:0016703","orphanet:251663","EFO:0002500","UMLS:C0431108","NCIT:C129324","NCIT:C6959","SNOMEDCT:253072003","medgen:96556"],"information_content":89.4}
{"id":"MONDO:0016705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiocentric glioma","equivalent_identifiers":["MONDO:0016705","DOID:0081261","orphanet:251671","UMLS:C2363903","MEDDRA:10068603","MEDDRA:10068604","MEDDRA:10073129","NCIT:C92552","SNOMEDCT:450900009","medgen:453267"],"information_content":90.9}
{"id":"MONDO:0016710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"medulloblastoma with extensive nodularity","equivalent_identifiers":["MONDO:0016710","DOID:3873","orphanet:251858","UMLS:C1334970","NCIT:C5407","SNOMEDCT:733902001","medgen:233759"],"information_content":100.0}
{"id":"MONDO:0016711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"desmoplastic/nodular medulloblastoma","equivalent_identifiers":["MONDO:0016711","orphanet:251863","UMLS:C0751291","NCIT:C4956","SNOMEDCT:32456001","medgen:148272"],"information_content":100.0}
{"id":"MONDO:0016718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroid plexus carcinoma","equivalent_identifiers":["MONDO:0016718","DOID:5648","orphanet:251899","UMLS:C0431109","MESH:C562943","MEDDRA:10002225","MEDDRA:10067478","NCIT:C4715","SNOMEDCT:1156471001","SNOMEDCT:188292007","SNOMEDCT:88252006","medgen:96557","icd11.foundation:1128449352","HP:0030392"],"information_content":88.2}
{"id":"MONDO:0016719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-seizures-intellectual disability-heart disease syndrome","equivalent_identifiers":["MONDO:0016719","orphanet:2519","UMLS:C2931529","MESH:C537544","medgen:419830"],"information_content":100.0}
{"id":"MONDO:0016722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pineoblastoma","equivalent_identifiers":["MONDO:0016722","DOID:1664","orphanet:251909","EFO:1000475","UMLS:C0205898","MEDDRA:10035056","MEDDRA:10035058","MEDDRA:10050487","NCIT:C9344","SNOMEDCT:31671006","SNOMEDCT:767448007","medgen:104745","HP:0030408"],"information_content":80.6}
{"id":"MONDO:0016723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pineocytoma","equivalent_identifiers":["MONDO:0016723","DOID:0081248","orphanet:251912","EFO:1000476","UMLS:C0917890","MEDDRA:10035059","NCIT:C6966","SNOMEDCT:1156473003","SNOMEDCT:255045009","SNOMEDCT:89096009","medgen:183004","icd11.foundation:2055142333","HP:0030407"],"information_content":95.4}
{"id":"MONDO:0016724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary tumor of the pineal region","equivalent_identifiers":["MONDO:0016724","DOID:0081251","orphanet:251915","EFO:1000451","UMLS:C2985219","NCIT:C92624","SNOMEDCT:1156472008","SNOMEDCT:450899004","medgen:457445"],"information_content":100.0}
{"id":"MONDO:0016729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed neuronal-glial tumor","equivalent_identifiers":["MONDO:0016729","orphanet:251934","UMLS:C0474844","MEDDRA:10068601","MEDDRA:10068602","NCIT:C4747","SNOMEDCT:302831000","medgen:105377","icd11.foundation:1792897751","HP:0025170"],"information_content":74.9}
{"id":"MONDO:0016730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gangliocytoma","equivalent_identifiers":["MONDO:0016730","DOID:2426","orphanet:251937","UMLS:C5779630","MESH:D005729","MEDDRA:10017700","NCIT:C6934","medgen:1830324","HP:0034952"],"information_content":90.9}
{"id":"MONDO:0016748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemangioblastoma","equivalent_identifiers":["MONDO:0016748","DOID:5241","orphanet:252054","UMLS:C0206734","MESH:D018325","MEDDRA:10018813","MEDDRA:10019385","NCIT:C3801","SNOMEDCT:1156474009","SNOMEDCT:81201000","medgen:104929","HP:0010797"],"information_content":83.1}
{"id":"MONDO:0016750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Halal syndrome","equivalent_identifiers":["MONDO:0016750","orphanet:2521","UMLS:C2930954","MESH:C535622","SNOMEDCT:719394002","medgen:419293"],"information_content":100.0}
{"id":"MONDO:0016751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant perineurioma","equivalent_identifiers":["MONDO:0016751","orphanet:252128","UMLS:C1266188","NCIT:C66845","SNOMEDCT:128796000","SNOMEDCT:761958009","medgen:220432","icd11.foundation:986576766"],"information_content":100.0}
{"id":"MONDO:0016755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurofibroma","equivalent_identifiers":["MONDO:0016755","DOID:0060403","DOID:8712","DOID:962","OMIM:613675","orphanet:252183","EFO:0000622","EFO:0008514","UMLS:C0027830","UMLS:C0162678","UMLS:C0495632","UMLS:C1314735","UMLS:C5401456","MESH:C563524","MESH:D009455","MESH:D017253","MEDDRA:10029267","MEDDRA:10029268","MEDDRA:10029272","NCIT:C3272","NCIT:C6727","SNOMEDCT:1156930004","SNOMEDCT:19133005","SNOMEDCT:404029005","SNOMEDCT:81669005","SNOMEDCT:880093002","SNOMEDCT:89084002","medgen:45058","medgen:58149","icd11.foundation:221014277","ICD10:Q85.0","ICD9:237.7","HP:0001067"],"information_content":76.4}
{"id":"MONDO:0016757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant triton tumor","equivalent_identifiers":["MONDO:0016757","DOID:6707","orphanet:252212","UMLS:C0334616","NCIT:C4335","SNOMEDCT:354002","SNOMEDCT:404040002","medgen:90816"],"information_content":100.0}
{"id":"MONDO:0016758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-brain defect-spasticity-hypernatremia syndrome","equivalent_identifiers":["MONDO:0016758","orphanet:2523","UMLS:C4749368","SNOMEDCT:770655004","medgen:1668792"],"information_content":100.0}
{"id":"MONDO:0016759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia type 2","equivalent_identifiers":["MONDO:0016759","DOID:0112328","orphanet:2524","UMLS:C2932714","MESH:C548070","NCIT:C124057","SNOMEDCT:715463008","medgen:420956","icd11.foundation:1158649247"],"information_content":88.2}
{"id":"MONDO:0016760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-microcornea syndrome, Seemanova type","equivalent_identifiers":["MONDO:0016760","orphanet:2528","UMLS:C2931524","MESH:C537536","MESH:C537539","SNOMEDCT:715464002","medgen:419433","icd11.foundation:1197077842"],"information_content":100.0}
{"id":"MONDO:0016761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia","equivalent_identifiers":["MONDO:0016761","DOID:0112280","UMLS:C0038015","medgen:20916","HP:0002655"],"information_content":71.9}
{"id":"MONDO:0016765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"19p13.12 microdeletion syndrome","equivalent_identifiers":["MONDO:0016765","orphanet:254346","UMLS:C4304579","SNOMEDCT:719597005","medgen:930248"],"information_content":100.0}
{"id":"MONDO:0016775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lichen planus pemphigoides","equivalent_identifiers":["MONDO:0016775","orphanet:254478","UMLS:C0406369","MEDDRA:10087934","SNOMEDCT:238653005","medgen:590352","icd11.foundation:1373932539"],"information_content":100.0}
{"id":"MONDO:0016777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inhalational botulism","equivalent_identifiers":["MONDO:0016777","orphanet:254504","UMLS:C1443900","SNOMEDCT:409562009","medgen:731169","icd11.foundation:1881625139"],"information_content":100.0}
{"id":"MONDO:0016778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iatrogenic botulism","equivalent_identifiers":["MONDO:0016778","orphanet:254509","UMLS:C4288922","NCIT:C128345","SNOMEDCT:1156829005","medgen:926454","icd11.foundation:230654666"],"information_content":100.0}
{"id":"MONDO:0016779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple congenital anomalies due to 14q32.2 maternally expressed gene defect","equivalent_identifiers":["MONDO:0016779","DOID:0111712","orphanet:254519","UMLS:C5779872","SNOMEDCT:770907002","medgen:1830421"],"information_content":90.9}
{"id":"MONDO:0016780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paternal 14q32.2 microdeletion syndrome","equivalent_identifiers":["MONDO:0016780","orphanet:254525","UMLS:C5679639","medgen:1842589"],"information_content":100.0}
{"id":"MONDO:0016781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal 14q32.2 microdeletion syndrome","equivalent_identifiers":["MONDO:0016781","orphanet:254528","UMLS:C5679640","medgen:1842712"],"information_content":100.0}
{"id":"MONDO:0016782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paternal 14q32.2 hypomethylation syndrome","equivalent_identifiers":["MONDO:0016782","orphanet:254531","UMLS:C5680721","medgen:1842839"],"information_content":100.0}
{"id":"MONDO:0016783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal 14q32.2 hypermethylation syndrome","equivalent_identifiers":["MONDO:0016783","orphanet:254534","UMLS:C5680720","medgen:1843365"],"information_content":100.0}
{"id":"MONDO:0016785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complete hydatidiform mole","equivalent_identifiers":["MONDO:0016785","orphanet:254688","UMLS:C0678213","NCIT:C4871","SNOMEDCT:237249000","medgen:195706","icd11.foundation:1338299833"],"information_content":92.8}
{"id":"MONDO:0016786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial hydatidiform mole","equivalent_identifiers":["MONDO:0016786","orphanet:254693","UMLS:C0334529","NCIT:C4293","SNOMEDCT:237250000","SNOMEDCT:51793002","medgen:87258","icd11.foundation:714020909"],"information_content":100.0}
{"id":"MONDO:0016807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pure mitochondrial myopathy","equivalent_identifiers":["MONDO:0016807","orphanet:254854","UMLS:C4517289","SNOMEDCT:732245008","medgen:1375079","icd11.foundation:141365898"],"information_content":100.0}
{"id":"MONDO:0016809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia with epilepsy","equivalent_identifiers":["MONDO:0016809","orphanet:254881","UMLS:C1843852","MESH:C564395","SNOMEDCT:699328003","medgen:334510","icd11.foundation:1238648682"],"information_content":100.0}
{"id":"MONDO:0016810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive progressive external ophthalmoplegia","equivalent_identifiers":["MONDO:0016810","orphanet:254886","UMLS:C1850303","MESH:C564926","SNOMEDCT:827117008","medgen:340509"],"information_content":92.8}
{"id":"MONDO:0016811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubulopathy-encephalopathy-liver failure syndrome","equivalent_identifiers":["MONDO:0016811","orphanet:254902","UMLS:C4274075","SNOMEDCT:717053007","medgen:900319"],"information_content":100.0}
{"id":"MONDO:0016814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternally-inherited Leigh syndrome","equivalent_identifiers":["MONDO:0016814","orphanet:255210","UMLS:C2931092","MESH:C536035","SNOMEDCT:717052002","medgen:443976"],"information_content":100.0}
{"id":"MONDO:0016817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome","equivalent_identifiers":["MONDO:0016817","DOID:0060306","OMIM.PS:224690","orphanet:2554","UMLS:C1868684","MESH:C538012","MEDDRA:10070612","medgen:401501"],"information_content":85.5}
{"id":"MONDO:0016819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome","equivalent_identifiers":["MONDO:0016819","orphanet:2560","UMLS:C2931024","MESH:C535806","SNOMEDCT:724174003","medgen:419697"],"information_content":100.0}
{"id":"MONDO:0016820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Moyamoya disease","equivalent_identifiers":["MONDO:0016820","DOID:13099","OMIM.PS:252350","orphanet:2573","UMLS:C0026654","MESH:D009072","MEDDRA:10028047","MEDDRA:10067590","NCIT:C84895","SNOMEDCT:89142007","medgen:7726","icd11.foundation:1746892088","icd11.foundation:369231682","ICD10:I67.5","ICD9:437.5"],"information_content":86.3}
{"id":"MONDO:0016822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myalgia-eosinophilia syndrome associated with tryptophan","equivalent_identifiers":["MONDO:0016822","orphanet:2582","UMLS:C1275050","SNOMEDCT:403735006","medgen:698358"],"information_content":100.0}
{"id":"MONDO:0016823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mycetoma","equivalent_identifiers":["MONDO:0016823","orphanet:2583","UMLS:C0024449","MESH:D008271","MEDDRA:10028427","NCIT:C85505","SNOMEDCT:410039003","medgen:44241"],"information_content":95.4}
{"id":"MONDO:0016824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myofibromatosis","equivalent_identifiers":["MONDO:0016824","DOID:0080109","OMIM.PS:228550","orphanet:2591","UMLS:C0206648","UMLS:C0432284","MESH:D018224","NCIT:C3742","SNOMEDCT:1285183007","SNOMEDCT:238860001","SNOMEDCT:73767002","medgen:140933","HP:0020135"],"information_content":87.2}
{"id":"MONDO:0016825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial myopathy-lactic acidosis-deafness syndrome","equivalent_identifiers":["MONDO:0016825","OMIM:251950","orphanet:2597","UMLS:C1855033","MESH:C537476","medgen:343245"],"information_content":100.0}
{"id":"MONDO:0016826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylmalonic aciduria and homocystinuria","equivalent_identifiers":["MONDO:0016826","OMIM.PS:277400","orphanet:26","UMLS:C5848324","MESH:C537359","medgen:1864102"],"information_content":87.2}
{"id":"MONDO:0016828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive sideroblastic anemia","equivalent_identifiers":["MONDO:0016828","orphanet:260305","UMLS:C4274077","SNOMEDCT:717050005","medgen:895586"],"information_content":92.8}
{"id":"MONDO:0016829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial visceral myopathy","equivalent_identifiers":["MONDO:0016829","orphanet:2604","UMLS:C0266833","MESH:C562574","SNOMEDCT:63684002","medgen:120590","icd11.foundation:1838806574"],"information_content":95.4}
{"id":"MONDO:0016830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Emery-Dreifuss muscular dystrophy","equivalent_identifiers":["MONDO:0016830","DOID:11726","OMIM.PS:310300","orphanet:261","UMLS:C0410189","MESH:D020389","MEDDRA:10081544","NCIT:C84685","SNOMEDCT:111508004","medgen:96078","icd11.foundation:749295636"],"information_content":82.6}
{"id":"MONDO:0016831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"linear verrucous nevus syndrome","equivalent_identifiers":["MONDO:0016831","orphanet:2611","UMLS:C5679838","SNOMEDCT:1231148002","medgen:1806291"],"information_content":90.9}
{"id":"MONDO:0016832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal 7q11.23 microduplication syndrome","equivalent_identifiers":["MONDO:0016832","orphanet:261102","UMLS:C4750782","SNOMEDCT:773325004","medgen:1662568"],"information_content":100.0}
{"id":"MONDO:0016833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"14q12 microdeletion syndrome","equivalent_identifiers":["MONDO:0016833","orphanet:261144","UMLS:C4305240","SNOMEDCT:719574007","medgen:930909"],"information_content":100.0}
{"id":"MONDO:0016834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"16p11.2p12.2 microduplication syndrome","equivalent_identifiers":["MONDO:0016834","orphanet:261204","UMLS:C4518821","SNOMEDCT:733518000","medgen:1377902"],"information_content":100.0}
{"id":"MONDO:0016835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"14q11.2 microduplication syndrome","equivalent_identifiers":["MONDO:0016835","orphanet:261229","UMLS:C4749855","SNOMEDCT:771341006","medgen:1657429"],"information_content":100.0}
{"id":"MONDO:0016836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"16p13.11 microdeletion syndrome","equivalent_identifiers":["MONDO:0016836","orphanet:261236","UMLS:C4304596","SNOMEDCT:719577000","medgen:930265"],"information_content":100.0}
{"id":"MONDO:0016837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"16p13.11 microduplication syndrome","equivalent_identifiers":["MONDO:0016837","orphanet:261243","UMLS:C4304595","SNOMEDCT:719578005","medgen:930264"],"information_content":100.0}
{"id":"MONDO:0016838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"16q24.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0016838","orphanet:261250","UMLS:C4304594","SNOMEDCT:719580004","medgen:930263"],"information_content":100.0}
{"id":"MONDO:0016839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal 17p13.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0016839","orphanet:261257","UMLS:C4707092","SNOMEDCT:764696007","medgen:1643975"],"information_content":100.0}
{"id":"MONDO:0016840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 17p","equivalent_identifiers":["MONDO:0016840","orphanet:261290","UMLS:C0795865","MESH:C538048","SNOMEDCT:717049005","medgen:167078"],"information_content":100.0}
{"id":"MONDO:0016841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"20p12.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0016841","orphanet:261295","UMLS:C4304539","SNOMEDCT:719650004","medgen:930208"],"information_content":100.0}
{"id":"MONDO:0016842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paternal 20q13.2q13.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0016842","orphanet:261304","UMLS:C4510306","SNOMEDCT:724070005","medgen:1390091"],"information_content":100.0}
{"id":"MONDO:0016843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"20q13.33 microdeletion syndrome","equivalent_identifiers":["MONDO:0016843","orphanet:261311","UMLS:C4518823","SNOMEDCT:733520002","medgen:1384661"],"information_content":100.0}
{"id":"MONDO:0016844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 20p","equivalent_identifiers":["MONDO:0016844","orphanet:261318","UMLS:C0265480","UMLS:C2930888","MESH:C535371","SNOMEDCT:111311004","medgen:418939"],"information_content":100.0}
{"id":"MONDO:0016845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"21q22.11q22.12 microdeletion syndrome","equivalent_identifiers":["MONDO:0016845","orphanet:261323","UMLS:C5192593","SNOMEDCT:787171006","medgen:1681958"],"information_content":100.0}
{"id":"MONDO:0016846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal 22q11.2 microduplication syndrome","equivalent_identifiers":["MONDO:0016846","orphanet:261337","UMLS:C4706942","SNOMEDCT:764524005","medgen:1637660"],"information_content":100.0}
{"id":"MONDO:0016847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 1q","equivalent_identifiers":["MONDO:0016847","orphanet:261344","UMLS:C4708596","SNOMEDCT:768927001","medgen:1636619"],"information_content":100.0}
{"id":"MONDO:0016848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile temporal arteritis","equivalent_identifiers":["MONDO:0016848","orphanet:26137","UMLS:C0751547","SNOMEDCT:722020006","medgen:155583","icd11.foundation:135739104"],"information_content":100.0}
{"id":"MONDO:0016851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal uniparental disomy of chromosome X","equivalent_identifiers":["MONDO:0016851","orphanet:261519","UMLS:C5191056","SNOMEDCT:783735004","medgen:1673747","icd11.foundation:573923144"],"information_content":100.0}
{"id":"MONDO:0016852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paternal uniparental disomy of chromosome X","equivalent_identifiers":["MONDO:0016852","orphanet:261524","UMLS:C5191049","SNOMEDCT:783718003","medgen:1683101","icd11.foundation:444322860"],"information_content":100.0}
{"id":"MONDO:0016853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome Y","equivalent_identifiers":["MONDO:0016853","orphanet:261529","UMLS:C4706450","SNOMEDCT:763407008","medgen:1631964","icd11.foundation:388539343"],"information_content":100.0}
{"id":"MONDO:0016854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"49,XXXYY syndrome","equivalent_identifiers":["MONDO:0016854","orphanet:261534","UMLS:C4749586","SNOMEDCT:770908007","medgen:1667231"],"information_content":100.0}
{"id":"MONDO:0016855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mowat-Wilson syndrome due to monosomy 2q22","equivalent_identifiers":["MONDO:0016855","orphanet:261537","UMLS:C5437617","SNOMEDCT:890118006","medgen:1723926"],"information_content":100.0}
{"id":"MONDO:0016856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mowat-Wilson syndrome due to a ZEB2 point mutation","equivalent_identifiers":["MONDO:0016856","orphanet:261552","UMLS:C5679681","medgen:1842263"],"information_content":100.0}
{"id":"MONDO:0016861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alagille syndrome due to 20p12 microdeletion","equivalent_identifiers":["MONDO:0016861","orphanet:261600","UMLS:C5679679","medgen:1826025"],"information_content":100.0}
{"id":"MONDO:0016862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alagille syndrome due to a JAG1 point mutation","equivalent_identifiers":["MONDO:0016862","OMIM:118450","orphanet:261619","UMLS:C1956125","medgen:365434"],"information_content":100.0}
{"id":"MONDO:0016863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Okihiro syndrome due to 20q13 microdeletion","equivalent_identifiers":["MONDO:0016863","orphanet:261638","UMLS:C5679682","medgen:1826026"],"information_content":100.0}
{"id":"MONDO:0016864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Okihiro syndrome due to a point mutation","equivalent_identifiers":["MONDO:0016864","orphanet:261647","UMLS:C5679683","medgen:1842838"],"information_content":100.0}
{"id":"MONDO:0016865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kleefstra syndrome due to a point mutation","equivalent_identifiers":["MONDO:0016865","orphanet:261652","UMLS:C5680724","medgen:1826146"],"information_content":100.0}
{"id":"MONDO:0016971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limb-girdle muscular dystrophy","equivalent_identifiers":["MONDO:0016971","DOID:11724","orphanet:263","EFO:0010955","UMLS:C0686353","MESH:D049288","NCIT:C84828","SNOMEDCT:240046001","SNOMEDCT:78468005","SNOMEDCT:93153005","medgen:151940","medgen:CN221288","icd11.foundation:887807212","ICD10:G71.03","HP:0006785"],"information_content":75.0}
{"id":"MONDO:0016979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MRCS syndrome","equivalent_identifiers":["MONDO:0016979","orphanet:263347","UMLS:C4749856","SNOMEDCT:771342004","medgen:1666962","icd11.foundation:392681472"],"information_content":100.0}
{"id":"MONDO:0016981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome","equivalent_identifiers":["MONDO:0016981","orphanet:263410","UMLS:C5190692","SNOMEDCT:782886007","medgen:1675231"],"information_content":100.0}
{"id":"MONDO:0016982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiosarcoma","equivalent_identifiers":["MONDO:0016982","DOID:0001816","orphanet:263413","EFO:0003968","UMLS:C0018923","UMLS:C0854893","MESH:D006394","MEDDRA:10002476","MEDDRA:10002479","MEDDRA:10018827","MEDDRA:10018828","MEDDRA:10019407","MEDDRA:10050367","MEDDRA:10057700","MEDDRA:10060540","NCIT:C3088","NCIT:C9275","SNOMEDCT:33176006","SNOMEDCT:39000009","SNOMEDCT:403977003","SNOMEDCT:863926008","medgen:42385","HP:0200058"],"information_content":72.9}
{"id":"MONDO:0016985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nevus of Ito","equivalent_identifiers":["MONDO:0016985","orphanet:263432","EFO:1000395","UMLS:CN202288","NCIT:C7582"],"information_content":100.0}
{"id":"MONDO:0016988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinism due to HNF4A deficiency","equivalent_identifiers":["MONDO:0016988","orphanet:263455","UMLS:C4274078","SNOMEDCT:717048002","medgen:894506"],"information_content":100.0}
{"id":"MONDO:0016989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fuchs heterochromic iridocyclitis","equivalent_identifiers":["MONDO:0016989","DOID:9375","orphanet:263479","UMLS:C0016782","MEDDRA:10017406","SNOMEDCT:11226001","medgen:507742","ICD10:H20.81","ICD9:364.21"],"information_content":100.0}
{"id":"MONDO:0016991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute necrotizing encephalopathy of childhood","equivalent_identifiers":["MONDO:0016991","orphanet:263524","UMLS:C4706387","SNOMEDCT:763310000","medgen:1641610"],"information_content":100.0}
{"id":"MONDO:0016994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephalic osteodysplastic primordial dwarfism types I and III","equivalent_identifiers":["MONDO:0016994","orphanet:2636","UMLS:C4319565","SNOMEDCT:725461009","medgen:1380769"],"information_content":92.8}
{"id":"MONDO:0016995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial multiple meningioma","equivalent_identifiers":["MONDO:0016995","orphanet:263662","UMLS:C4707361","SNOMEDCT:765202001","medgen:1644853","icd11.foundation:160795085"],"information_content":100.0}
{"id":"MONDO:0016996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NK-cell enteropathy","equivalent_identifiers":["MONDO:0016996","orphanet:263665","UMLS:C4509932","NCIT:C200037","SNOMEDCT:723496007","medgen:1379183"],"information_content":100.0}
{"id":"MONDO:0017013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 8p","equivalent_identifiers":["MONDO:0017013","orphanet:264450","UMLS:C0795825","MESH:C538019","SNOMEDCT:768929003","medgen:167072"],"information_content":100.0}
{"id":"MONDO:0017042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thanatophoric dysplasia","equivalent_identifiers":["MONDO:0017042","DOID:13481","orphanet:2655","UMLS:C0039743","MESH:D013796","MEDDRA:10049808","MEDDRA:10089187","NCIT:C85187","SNOMEDCT:29352008","medgen:21124","icd11.foundation:1668919215","ICD10:Q77.1"],"information_content":88.2}
{"id":"MONDO:0017043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital mesoblastic nephroma","equivalent_identifiers":["MONDO:0017043","DOID:4773","orphanet:2665","UMLS:C1332965","NCIT:C6569","medgen:232058","icd11.foundation:2001572901","HP:0100881"],"information_content":87.2}
{"id":"MONDO:0017048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudomyxoma peritonei","equivalent_identifiers":["MONDO:0017048","DOID:3559","orphanet:26790","EFO:0007456","UMLS:C0033822","MESH:D011553","MEDDRA:10028666","MEDDRA:10037138","NCIT:C3345","SNOMEDCT:112679004","SNOMEDCT:307601000","medgen:18726","icd11.foundation:1849365560","HP:0040414"],"information_content":84.8}
{"id":"MONDO:0017051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic maple syrup urine disease","equivalent_identifiers":["MONDO:0017051","orphanet:268145","UMLS:C0268568","SNOMEDCT:54064006","medgen:78689"],"information_content":100.0}
{"id":"MONDO:0017052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermediate maple syrup urine disease","equivalent_identifiers":["MONDO:0017052","orphanet:268162","UMLS:C1621920","SNOMEDCT:405287008","medgen:301223"],"information_content":100.0}
{"id":"MONDO:0017053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermittent maple syrup urine disease","equivalent_identifiers":["MONDO:0017053","orphanet:268173","UMLS:C0268569","SNOMEDCT:405288003","medgen:78690"],"information_content":100.0}
{"id":"MONDO:0017054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thiamine-responsive maple syrup urine disease","equivalent_identifiers":["MONDO:0017054","orphanet:268184","UMLS:C0751285","SNOMEDCT:31368008","medgen:199627"],"information_content":100.0}
{"id":"MONDO:0017055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mycophenolate mofetil embryopathy","equivalent_identifiers":["MONDO:0017055","orphanet:268249","UMLS:C4509879","SNOMEDCT:723406000","medgen:1387699","icd11.foundation:2111105927"],"information_content":100.0}
{"id":"MONDO:0017056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion","equivalent_identifiers":["MONDO:0017056","orphanet:268261","UMLS:C5191008","SNOMEDCT:783619003","medgen:1673021"],"information_content":100.0}
{"id":"MONDO:0017076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior meningocele","equivalent_identifiers":["MONDO:0017076","orphanet:268810","UMLS:C5680741","SNOMEDCT:1197212001","medgen:1806905","icd11.foundation:1464755755"],"information_content":100.0}
{"id":"MONDO:0017078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cephalocele","equivalent_identifiers":["MONDO:0017078","orphanet:268817","UMLS:C0014065","UMLS:C0265541","UMLS:C4551722","MESH:D004677","MEDDRA:10014617","NCIT:C124519","NCIT:C84687","SNOMEDCT:253101008","SNOMEDCT:48777005","SNOMEDCT:55999004","medgen:4934","icd11.foundation:1520916568","HP:0011815"],"information_content":82.1}
{"id":"MONDO:0017079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meningoencephalocele","equivalent_identifiers":["MONDO:0017079","orphanet:268820","UMLS:C0009694","UMLS:C0266456","MEDDRA:10057562","NCIT:C124517","NCIT:C124557","SNOMEDCT:36010004","SNOMEDCT:52330001","medgen:82743","HP:0006888"],"information_content":100.0}
{"id":"MONDO:0017080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"occipital encephalocele","equivalent_identifiers":["MONDO:0017080","orphanet:268823","UMLS:C0014067","SNOMEDCT:42376006","medgen:4935","icd11.foundation:1075031814","HP:0002085"],"information_content":100.0}
{"id":"MONDO:0017081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parietal encephalocele","equivalent_identifiers":["MONDO:0017081","orphanet:268826","UMLS:C0431294","SNOMEDCT:253109005","medgen:488903","icd11.foundation:1122294944","HP:0011816"],"information_content":100.0}
{"id":"MONDO:0017082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"basal encephalocele","equivalent_identifiers":["MONDO:0017082","orphanet:268829","UMLS:C4023176","SNOMEDCT:838339009","medgen:868771","icd11.foundation:533416539","HP:0011817"],"information_content":100.0}
{"id":"MONDO:0017091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral polymicrogyria","equivalent_identifiers":["MONDO:0017091","orphanet:268940","UMLS:C4707565","SNOMEDCT:765757003","medgen:1647593","icd11.foundation:422828750","HP:0025646"],"information_content":83.1}
{"id":"MONDO:0017092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"unilateral polymicrogyria","equivalent_identifiers":["MONDO:0017092","orphanet:268943","UMLS:C4024960","SNOMEDCT:715905006","medgen:870513","icd11.foundation:782302128","HP:0006927"],"information_content":92.8}
{"id":"MONDO:0017093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"unilateral focal polymicrogyria","equivalent_identifiers":["MONDO:0017093","DOID:0080919","orphanet:268947","UMLS:C5680773","medgen:1842371","icd11.foundation:1006662041"],"information_content":100.0}
{"id":"MONDO:0017094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral cortical dysplasia","equivalent_identifiers":["MONDO:0017094","orphanet:268950","UMLS:C0431380","UMLS:C1955869","MESH:D054220","MEDDRA:10070666","NCIT:C42088","NCIT:C84834","SNOMEDCT:253153000","medgen:98129","icd11.foundation:1352548261","HP:0002539"],"information_content":81.7}
{"id":"MONDO:0017096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FCD type Ia","equivalent_identifiers":["MONDO:0017096","orphanet:268973","UMLS:C5679767","medgen:1843115"],"information_content":100.0}
{"id":"MONDO:0017100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutropenia-monocytopenia-deafness syndrome","equivalent_identifiers":["MONDO:0017100","orphanet:2690","UMLS:C4518430","SNOMEDCT:725137007","medgen:1383523"],"information_content":100.0}
{"id":"MONDO:0017101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated focal cortical dysplasia type IIa","equivalent_identifiers":["MONDO:0017101","orphanet:269001","UMLS:C1846386","medgen:375876"],"information_content":100.0}
{"id":"MONDO:0017102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FCD type IIb","equivalent_identifiers":["MONDO:0017102","orphanet:269008","UMLS:C5679768","medgen:1842232"],"information_content":100.0}
{"id":"MONDO:0017106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retrocerebellar cyst","equivalent_identifiers":["MONDO:0017106","UMLS:C1845370","medgen:335172","HP:0006951"],"information_content":100.0}
{"id":"MONDO:0017110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated Dandy-Walker malformation with hydrocephalus","equivalent_identifiers":["MONDO:0017110","orphanet:269212","UMLS:C5680779","medgen:1842616"],"information_content":100.0}
{"id":"MONDO:0017111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated Dandy-Walker malformation without hydrocephalus","equivalent_identifiers":["MONDO:0017111","orphanet:269215","UMLS:C5680778","medgen:1842486"],"information_content":100.0}
{"id":"MONDO:0017116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital communicating hydrocephalus","equivalent_identifiers":["MONDO:0017116","orphanet:269505","UMLS:C5679774","medgen:1842324"],"information_content":100.0}
{"id":"MONDO:0017117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital non-communicating hydrocephalus","equivalent_identifiers":["MONDO:0017117","orphanet:269510","UMLS:C4546092","SNOMEDCT:762295002","medgen:1616373"],"information_content":100.0}
{"id":"MONDO:0017123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ARC syndrome","equivalent_identifiers":["MONDO:0017123","DOID:0050763","OMIM.PS:208085","orphanet:2697","UMLS:C4551984","MESH:C535382","SNOMEDCT:720513002","medgen:1647210"],"information_content":92.8}
{"id":"MONDO:0017134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odonto-onycho dysplasia-alopecia syndrome","equivalent_identifiers":["MONDO:0017134","orphanet:2722","UMLS:C4706599","SNOMEDCT:763828007","medgen:1648007"],"information_content":100.0}
{"id":"MONDO:0017135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"olivopontocerebellar atrophy-deafness syndrome","equivalent_identifiers":["MONDO:0017135","orphanet:2732","UMLS:C4275113","SNOMEDCT:715483009","medgen:905095"],"information_content":100.0}
{"id":"MONDO:0017138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Opitz G/BBB syndrome","equivalent_identifiers":["MONDO:0017138","DOID:0080697","orphanet:2745","UMLS:C0175696","NCIT:C125487","SNOMEDCT:81771002","KEGG.DISEASE:H00583"],"information_content":95.4}
{"id":"MONDO:0017140","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"L1 syndrome","equivalent_identifiers":["MONDO:0017140","orphanet:275543","UMLS:C5779710","medgen:1830362","icd11.foundation:1457804873"],"information_content":89.4}
{"id":"MONDO:0017147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic pulmonary arterial hypertension","equivalent_identifiers":["MONDO:0017147","orphanet:275766","UMLS:C3203102","MEDDRA:10065151","NCIT:C168400","NCIT:C97119","SNOMEDCT:697898008","medgen:468368","icd11.foundation:265520344"],"information_content":95.4}
{"id":"MONDO:0017148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heritable pulmonary arterial hypertension","equivalent_identifiers":["MONDO:0017148","OMIM.PS:178600","orphanet:275777","UMLS:C0340543","MESH:D065627","MEDDRA:10065152","MEDDRA:10085244","NCIT:C121945","SNOMEDCT:233944003","SNOMEDCT:697897003","medgen:90953"],"information_content":88.2}
{"id":"MONDO:0017149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug- or toxin-induced pulmonary arterial hypertension","equivalent_identifiers":["MONDO:0017149","orphanet:275786","EFO:0009192","UMLS:C0340544","SNOMEDCT:233945002","medgen:573792"],"information_content":100.0}
{"id":"MONDO:0017160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"behavioral variant of frontotemporal dementia","equivalent_identifiers":["MONDO:0017160","orphanet:275864","UMLS:C4011788","SNOMEDCT:716994006","medgen:860225"],"information_content":89.4}
{"id":"MONDO:0017161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontotemporal dementia with motor neuron disease","equivalent_identifiers":["MONDO:0017161","OMIM.PS:105550","orphanet:275872","UMLS:C3888102","MESH:C566288","SNOMEDCT:1259124000","medgen:854771","icd11.foundation:1171850356"],"information_content":86.3}
{"id":"MONDO:0017162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"imperforate oropharynx-costo vetebral anomalies syndrome","equivalent_identifiers":["MONDO:0017162","orphanet:2759","UMLS:C4749770","SNOMEDCT:771185000","medgen:1663228"],"information_content":100.0}
{"id":"MONDO:0017167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant epithelial tumor of salivary glands","equivalent_identifiers":["MONDO:0017167","orphanet:276145","UMLS:C5190832","SNOMEDCT:783155007","medgen:1674486"],"information_content":89.4}
{"id":"MONDO:0017168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign epithelial tumor of salivary glands","equivalent_identifiers":["MONDO:0017168","orphanet:276148","UMLS:C5190858","SNOMEDCT:783195009","medgen:1684009"],"information_content":95.4}
{"id":"MONDO:0017171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 6, rapidly progressing","equivalent_identifiers":["MONDO:0017171","orphanet:276212","UMLS:C0268216","UMLS:C5679781","SNOMEDCT:58263000","medgen:1842485"],"information_content":100.0}
{"id":"MONDO:0017172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 6, slowly progressing","equivalent_identifiers":["MONDO:0017172","orphanet:276223","UMLS:C0268218","UMLS:C5679780","SNOMEDCT:67854007","medgen:1842694"],"information_content":100.0}
{"id":"MONDO:0017174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Machado-Joseph disease type 1","equivalent_identifiers":["MONDO:0017174","orphanet:276238","UMLS:C0686349","UMLS:C0751668","SNOMEDCT:91953003","medgen:155610","icd11.foundation:1094680019"],"information_content":100.0}
{"id":"MONDO:0017175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Machado-Joseph disease type 2","equivalent_identifiers":["MONDO:0017175","orphanet:276241","UMLS:C0686350","UMLS:C0751669","SNOMEDCT:91954009","medgen:199707","icd11.foundation:1775824880"],"information_content":100.0}
{"id":"MONDO:0017176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Machado-Joseph disease type 3","equivalent_identifiers":["MONDO:0017176","orphanet:276244","UMLS:C0686351","UMLS:C0751670","SNOMEDCT:91955005","medgen:155611","icd11.foundation:1540439031"],"information_content":100.0}
{"id":"MONDO:0017177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemihyperplasia-multiple lipomatosis syndrome","equivalent_identifiers":["MONDO:0017177","orphanet:276280","UMLS:C4749904","MEDDRA:10085514","SNOMEDCT:771440006","medgen:1651269"],"information_content":100.0}
{"id":"MONDO:0017178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Osteochondritis","equivalent_identifiers":["MONDO:0017178","DOID:84","orphanet:2764","UMLS:C0029420","UMLS:C0029421","MESH:D010007","MESH:D010008","MEDDRA:10031230","MEDDRA:10031231","NCIT:C34877","NCIT:C34878","SNOMEDCT:70736000","SNOMEDCT:82562007","medgen:10494","icd11.foundation:467851106","ICD10:M93.2","ICD9:732.7","HP:0010886"],"information_content":95.4}
{"id":"MONDO:0017180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"10q22.3q23.3 microduplication syndrome","equivalent_identifiers":["MONDO:0017180","orphanet:276422","UMLS:C5190512","SNOMEDCT:782669004","medgen:1682781"],"information_content":100.0}
{"id":"MONDO:0017183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinism due to UCP2 deficiency","equivalent_identifiers":["MONDO:0017183","orphanet:276556","UMLS:C4303082","SNOMEDCT:721834007","medgen:928751"],"information_content":100.0}
{"id":"MONDO:0017184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant hyperinsulinism due to SUR1 deficiency","equivalent_identifiers":["MONDO:0017184","orphanet:276575","UMLS:C4274080","SNOMEDCT:717046003","medgen:900764"],"information_content":100.0}
{"id":"MONDO:0017185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant hyperinsulinism due to Kir6.2 deficiency","equivalent_identifiers":["MONDO:0017185","orphanet:276580","UMLS:C4274081","SNOMEDCT:717045004","medgen:903936"],"information_content":100.0}
{"id":"MONDO:0017187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency","equivalent_identifiers":["MONDO:0017187","orphanet:276598","UMLS:C5191059","SNOMEDCT:783740007","medgen:1683284"],"information_content":100.0}
{"id":"MONDO:0017188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency","equivalent_identifiers":["MONDO:0017188","orphanet:276603","UMLS:C5191060","SNOMEDCT:783741006","medgen:1673560"],"information_content":100.0}
{"id":"MONDO:0017189","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia","equivalent_identifiers":["MONDO:0017189","orphanet:276608","UMLS:C4274082","SNOMEDCT:717044000","medgen:907576"],"information_content":100.0}
{"id":"MONDO:0017190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sporadic pheochromocytoma/secreting paraganglioma","equivalent_identifiers":["MONDO:0017190","orphanet:276621","UMLS:C4707333","SNOMEDCT:765143008","medgen:1636854"],"information_content":90.9}
{"id":"MONDO:0017193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"symptomatic form of Coffin-Lowry syndrome in female carriers","equivalent_identifiers":["MONDO:0017193","orphanet:276630","UMLS:C5680787","SNOMEDCT:1237577000","medgen:1814465"],"information_content":100.0}
{"id":"MONDO:0017194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Blount disease","equivalent_identifiers":["MONDO:0017194","DOID:14798","orphanet:2768","UMLS:C0175756","MESH:C536237","MEDDRA:10072255","MEDDRA:10072257","NCIT:C118460","SNOMEDCT:1344797002","SNOMEDCT:79353000","medgen:104499","icd11.foundation:138830223"],"information_content":92.8}
{"id":"MONDO:0017195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bruck syndrome","equivalent_identifiers":["MONDO:0017195","DOID:0060231","OMIM.PS:259450","orphanet:2771","UMLS:C0432253","MEDDRA:10063718","SNOMEDCT:254113006","medgen:609420","icd11.foundation:1783996418","ICD10:M21.8"],"information_content":92.8}
{"id":"MONDO:0017196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome","equivalent_identifiers":["MONDO:0017196","orphanet:2773","UMLS:C2930952","UMLS:C4302824","MESH:C535617","SNOMEDCT:722110003","medgen:928493"],"information_content":100.0}
{"id":"MONDO:0017197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteopathia striata-pigmentary dermopathy-white forelock syndrome","equivalent_identifiers":["MONDO:0017197","orphanet:2779","UMLS:C2931096","MESH:C536054","SNOMEDCT:787408008","medgen:419711"],"information_content":100.0}
{"id":"MONDO:0017198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteopetrosis","equivalent_identifiers":["MONDO:0017198","DOID:13533","orphanet:2781","UMLS:C0029454","MESH:D010022","MEDDRA:10001556","MEDDRA:10026821","MEDDRA:10031280","NCIT:C26840","SNOMEDCT:1926006","medgen:18223","icd11.foundation:1498426606","ICD9:756.52","HP:0011002"],"information_content":78.8}
{"id":"MONDO:0017200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic ovaries-urethral sphincter dysfunction syndrome","equivalent_identifiers":["MONDO:0017200","orphanet:2795","UMLS:C2931462","MESH:C537271","MEDDRA:10071718","medgen:419813"],"information_content":100.0}
{"id":"MONDO:0017201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spasmus nutans","equivalent_identifiers":["MONDO:0017201","orphanet:279882","UMLS:C0546878","UMLS:C1527306","MEDDRA:10052890","MEDDRA:10059593","SNOMEDCT:18191000","SNOMEDCT:400948003","medgen:154280","icd11.foundation:1868433558","HP:0010533"],"information_content":100.0}
{"id":"MONDO:0017213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postorgasmic illness syndrome","equivalent_identifiers":["MONDO:0017213","orphanet:279947","UMLS:C4749582","SNOMEDCT:770903003","medgen:1663577","icd11.foundation:1094271130"],"information_content":100.0}
{"id":"MONDO:0017214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin B12-responsive methylmalonic acidemia","equivalent_identifiers":["MONDO:0017214","orphanet:28","UMLS:C0342720","SNOMEDCT:69614003","medgen:575193"],"information_content":90.9}
{"id":"MONDO:0017215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"calciphylaxis","equivalent_identifiers":["MONDO:0017215","DOID:4734","orphanet:280062","UMLS:C0006666","MESH:D002115","MEDDRA:10051714","NCIT:C84607","SNOMEDCT:237900002","medgen:2404","icd11.foundation:574291789"],"information_content":92.8}
{"id":"MONDO:0017219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microform holoprosencephaly","equivalent_identifiers":["MONDO:0017219","DOID:0111380","orphanet:280200","UMLS:C5393309","SNOMEDCT:1197215004","medgen:1711978","icd11.foundation:44293173"],"information_content":90.9}
{"id":"MONDO:0017221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Connatal PMD","equivalent_identifiers":["MONDO:0017221","orphanet:280210","UMLS:C5679776","medgen:1842817","icd11.foundation:1118374715"],"information_content":100.0}
{"id":"MONDO:0017222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pelizaeus-Merzbacher disease, classic form","equivalent_identifiers":["MONDO:0017222","orphanet:280219","UMLS:C0751916","SNOMEDCT:87607002","medgen:155959","icd11.foundation:1613420896"],"information_content":100.0}
{"id":"MONDO:0017223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pelizaeus-Merzbacher disease, transitional form","equivalent_identifiers":["MONDO:0017223","orphanet:280224","UMLS:C0751917","medgen:199764","icd11.foundation:1471805474"],"information_content":100.0}
{"id":"MONDO:0017224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pelizaeus-Merzbacher disease in female carriers","equivalent_identifiers":["MONDO:0017224","orphanet:280229","UMLS:C5438815","SNOMEDCT:1003881009","medgen:1753109","icd11.foundation:1751389523"],"information_content":100.0}
{"id":"MONDO:0017225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"null syndrome","equivalent_identifiers":["MONDO:0017225","orphanet:280234","UMLS:C5439441","SNOMEDCT:1003447007","medgen:1740046","icd11.foundation:1663254692"],"information_content":100.0}
{"id":"MONDO:0017226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pelizaeus-Merzbacher-like disease","equivalent_identifiers":["MONDO:0017226","orphanet:280270","UMLS:C4274084","SNOMEDCT:717042001","medgen:894734","icd11.foundation:1101042369"],"information_content":90.9}
{"id":"MONDO:0017229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 12p","equivalent_identifiers":["MONDO:0017229","orphanet:280325","UMLS:C4749581","SNOMEDCT:770902008","medgen:1648932"],"information_content":100.0}
{"id":"MONDO:0017230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal semi-dominant severe lipodystrophic laminopathy","equivalent_identifiers":["MONDO:0017230","orphanet:280365","UMLS:C5680783","SNOMEDCT:1197747005","medgen:1808090"],"information_content":100.0}
{"id":"MONDO:0017232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome","equivalent_identifiers":["MONDO:0017232","orphanet:280384","UMLS:C4749580","SNOMEDCT:770901001","medgen:1659846"],"information_content":100.0}
{"id":"MONDO:0017233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial Alzheimer-like prion disease","equivalent_identifiers":["MONDO:0017233","orphanet:280397","UMLS:C4303482","SNOMEDCT:721219005","medgen:929151","icd11.foundation:1297025427"],"information_content":100.0}
{"id":"MONDO:0017237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensorimotor neuropathy with hyperelastic skin","equivalent_identifiers":["MONDO:0017237","orphanet:280598","UMLS:C5190690","SNOMEDCT:782881002","medgen:1678654","icd11.foundation:691133799"],"information_content":100.0}
{"id":"MONDO:0017238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobinopathy Toms River","equivalent_identifiers":["MONDO:0017238","orphanet:280615","UMLS:C5190689","SNOMEDCT:782880001","medgen:1683555"],"information_content":100.0}
{"id":"MONDO:0017239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial progressive hyper- and hypopigmentation","equivalent_identifiers":["MONDO:0017239","orphanet:280628","UMLS:C4706423","SNOMEDCT:763368004","medgen:1643385","icd11.foundation:1229773662"],"information_content":100.0}
{"id":"MONDO:0017242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous collagenous vasculopathy","equivalent_identifiers":["MONDO:0017242","orphanet:280779","UMLS:C4305323","SNOMEDCT:718634003","medgen:930992","icd11.foundation:878108553"],"information_content":100.0}
{"id":"MONDO:0017243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bullous diffuse cutaneous mastocytosis","equivalent_identifiers":["MONDO:0017243","orphanet:280785","UMLS:C5546764","SNOMEDCT:1148891004","medgen:1781582","icd11.foundation:227748867"],"information_content":100.0}
{"id":"MONDO:0017244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudoxanthomatous diffuse cutaneous mastocytosis","equivalent_identifiers":["MONDO:0017244","orphanet:280794","UMLS:C5679949","medgen:1842453"],"information_content":100.0}
{"id":"MONDO:0017255","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panuveitis","equivalent_identifiers":["MONDO:0017255","DOID:12030","orphanet:280898","EFO:1001082","UMLS:C0030343","MESH:D015864","MEDDRA:10033687","NCIT:C84989","SNOMEDCT:75614007","medgen:45303","icd11.foundation:1125547814","ICD10:H44.11","ICD9:360.12","HP:0012121"],"information_content":88.2}
{"id":"MONDO:0017258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic panuveitis","equivalent_identifiers":["MONDO:0017258","orphanet:280921","UMLS:C4707884","SNOMEDCT:766933000","medgen:1633708"],"information_content":95.4}
{"id":"MONDO:0017264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndromic recessive X-linked ichthyosis","equivalent_identifiers":["MONDO:0017264","orphanet:281090","UMLS:C4274085","SNOMEDCT:717041008","medgen:904038"],"information_content":100.0}
{"id":"MONDO:0017267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"self-healing collodion baby","equivalent_identifiers":["MONDO:0017267","orphanet:281122","UMLS:C1855789","MESH:C565473","SNOMEDCT:718632004","medgen:383772","icd11.foundation:34721911"],"information_content":92.8}
{"id":"MONDO:0017268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acral self-healing collodion baby","equivalent_identifiers":["MONDO:0017268","orphanet:281127","UMLS:C4305324","SNOMEDCT:718633009","medgen:930993","icd11.foundation:897773833"],"information_content":100.0}
{"id":"MONDO:0017275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia-facial-cutaneous lesions syndrome","equivalent_identifiers":["MONDO:0017275","orphanet:2819","UMLS:C2931617","MESH:C537797","SNOMEDCT:763403007","medgen:419453"],"information_content":100.0}
{"id":"MONDO:0017276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontotemporal dementia","equivalent_identifiers":["MONDO:0017276","DOID:9255","orphanet:282","UMLS:C0338451","MESH:D057180","MEDDRA:10068968","NCIT:C84719","SNOMEDCT:230270009","medgen:83266","icd11.foundation:831337417","HP:0002145"],"information_content":76.9}
{"id":"MONDO:0017279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"young-onset Parkinson disease","equivalent_identifiers":["MONDO:0017279","DOID:0060894","orphanet:2828","UMLS:C4275179","SNOMEDCT:715345007","medgen:907947"],"information_content":81.3}
{"id":"MONDO:0017281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal caliceal diverticuli-deafness syndrome","equivalent_identifiers":["MONDO:0017281","orphanet:2838","UMLS:C5190738","SNOMEDCT:782942003","medgen:1676118"],"information_content":100.0}
{"id":"MONDO:0017282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alveolar echinococcosis","equivalent_identifiers":["MONDO:0017282","DOID:12148","orphanet:284","UMLS:C0152069","MESH:C536591","MEDDRA:10014109","MEDDRA:10053042","SNOMEDCT:21009004","medgen:508867","icd11.foundation:1407575161","ICD10:B67.7","ICD9:122.7"],"information_content":100.0}
{"id":"MONDO:0017283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion","equivalent_identifiers":["MONDO:0017283","orphanet:284169","UMLS:C5190804","SNOMEDCT:783061008","medgen:1681325"],"information_content":100.0}
{"id":"MONDO:0017284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Xp22.13p22.2 duplication syndrome","equivalent_identifiers":["MONDO:0017284","orphanet:284180","UMLS:C5190686","SNOMEDCT:782877002","medgen:1684472"],"information_content":100.0}
{"id":"MONDO:0017285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"penoscrotal transposition","equivalent_identifiers":["MONDO:0017285","orphanet:2842","UMLS:C1868854","MESH:C536650","MEDDRA:10067287","NCIT:C99010","SNOMEDCT:312005008","medgen:357036","icd11.foundation:1417779551","HP:0100600"],"information_content":100.0}
{"id":"MONDO:0017286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tempi syndrome","equivalent_identifiers":["MONDO:0017286","orphanet:284227","UMLS:C3854394","MEDDRA:10075076","NCIT:C121656","SNOMEDCT:718614004","medgen:886502"],"information_content":100.0}
{"id":"MONDO:0017287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunoglobulin G4-related sclerosing disease","equivalent_identifiers":["MONDO:0017287","DOID:0080356","orphanet:284264","orphanet:596448","UMLS:C3203653","MEDDRA:10071569","MEDDRA:10071581","NCIT:C95992","medgen:473761","icd11.foundation:99883782"],"information_content":80.2}
{"id":"MONDO:0017291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reversible cerebral vasoconstriction syndrome","equivalent_identifiers":["MONDO:0017291","orphanet:284388","UMLS:C3544214","MEDDRA:10073240","SNOMEDCT:700467001","medgen:811291","icd11.foundation:1474881372"],"information_content":100.0}
{"id":"MONDO:0017295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycerol kinase deficiency, juvenile form","equivalent_identifiers":["MONDO:0017295","orphanet:284411","UMLS:C5681029","medgen:1842281"],"information_content":100.0}
{"id":"MONDO:0017296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycerol kinase deficiency, adult form","equivalent_identifiers":["MONDO:0017296","orphanet:284414","UMLS:C5681013","medgen:1842796"],"information_content":100.0}
{"id":"MONDO:0017298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute zonal occult outer retinopathy","equivalent_identifiers":["MONDO:0017298","orphanet:284454","UMLS:C0730298","MESH:C538223","MEDDRA:10074444","MEDDRA:10074447","SNOMEDCT:312929003","medgen:196452","icd11.foundation:2011657601"],"information_content":100.0}
{"id":"MONDO:0017301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pericardial and diaphragmatic defect","equivalent_identifiers":["MONDO:0017301","orphanet:2847","UMLS:C4510305","SNOMEDCT:724068001","medgen:1373904"],"information_content":100.0}
{"id":"MONDO:0017304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular albinism","equivalent_identifiers":["MONDO:0017304","DOID:0050633","orphanet:284804","UMLS:C0078917","MESH:D016117","MEDDRA:10065276","SNOMEDCT:26399002","medgen:38147","icd11.foundation:1147926040","HP:0001107"],"information_content":88.2}
{"id":"MONDO:0017309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal Marfan syndrome","equivalent_identifiers":["MONDO:0017309","orphanet:284979","UMLS:C4016054","SNOMEDCT:763839005","medgen:864491","icd11.foundation:1102890898"],"information_content":100.0}
{"id":"MONDO:0017312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perrault syndrome","equivalent_identifiers":["MONDO:0017312","DOID:0050857","OMIM.PS:233400","orphanet:2855","UMLS:C0685838","MESH:C537286","SNOMEDCT:93466004","medgen:151934","icd11.foundation:256968598"],"information_content":86.3}
{"id":"MONDO:0017314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, vascular type","equivalent_identifiers":["MONDO:0017314","orphanet:286","UMLS:C0268338","MESH:D000094623","NCIT:C125699","SNOMEDCT:17025000","medgen:82790","icd11.foundation:1202686415"],"information_content":92.8}
{"id":"MONDO:0017315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-webbed neck-heart disease syndrome","equivalent_identifiers":["MONDO:0017315","orphanet:2865","UMLS:C2930950","MESH:C535613","SNOMEDCT:721073008","medgen:419677"],"information_content":100.0}
{"id":"MONDO:0017316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-deafness-neutrophil dysfunction-dysmorphism syndrome","equivalent_identifiers":["MONDO:0017316","orphanet:2866","UMLS:C4274785","SNOMEDCT:716192009","medgen:906653"],"information_content":100.0}
{"id":"MONDO:0017317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phakomatosis pigmentokeratotica","equivalent_identifiers":["MONDO:0017317","orphanet:2874","UMLS:C2931658","MESH:C537893","SNOMEDCT:723455009","medgen:419860","icd11.foundation:960559196"],"information_content":100.0}
{"id":"MONDO:0017318","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phakomatosis pigmentovascularis","equivalent_identifiers":["MONDO:0017318","orphanet:2875","UMLS:C1274879","MESH:C537894","SNOMEDCT:403545005","medgen:220888","icd11.foundation:1768130414"],"information_content":90.9}
{"id":"MONDO:0017319","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Elliptocytosis","equivalent_identifiers":["MONDO:0017319","DOID:2373","orphanet:288","UMLS:C0013902","UMLS:C0427480","MESH:D004612","MEDDRA:10014489","MEDDRA:10014490","MEDDRA:10014491","MEDDRA:10019877","MEDDRA:10033118","NCIT:C3004","NCIT:C35882","NCIT:C36293","SNOMEDCT:178935009","SNOMEDCT:250242004","medgen:41747","icd11.foundation:679955609","ICD10:D58.1","ICD9:282.1","HP:0004445"],"information_content":88.2}
{"id":"MONDO:0017320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phosphoenolpyruvate carboxykinase deficiency","equivalent_identifiers":["MONDO:0017320","orphanet:2880","UMLS:C0268194","MESH:C536654","NCIT:C99015","SNOMEDCT:5335002","medgen:120618","icd11.foundation:1350463176"],"information_content":92.8}
{"id":"MONDO:0017321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pili torti-onychodysplasia syndrome","equivalent_identifiers":["MONDO:0017321","orphanet:2890","UMLS:C2931483","MESH:C537399","medgen:419090"],"information_content":100.0}
{"id":"MONDO:0017324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive hypophosphatemic rickets","equivalent_identifiers":["MONDO:0017324","DOID:0050949","orphanet:289176","UMLS:C0342643","MEDDRA:10077955","MEDDRA:10077959","NCIT:C123187","SNOMEDCT:90505000","medgen:137975"],"information_content":92.8}
{"id":"MONDO:0017325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation","equivalent_identifiers":["MONDO:0017325","orphanet:289266","UMLS:C4749281","SNOMEDCT:770431001","medgen:1663334","icd11.foundation:1655554340"],"information_content":100.0}
{"id":"MONDO:0017329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial vesicoureteral reflux","equivalent_identifiers":["MONDO:0017329","OMIM.PS:193000","orphanet:289365","UMLS:C4706552","SNOMEDCT:763716008","medgen:1637583"],"information_content":84.8}
{"id":"MONDO:0017332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyoderma gangrenosum-acne-suppurative hidradenitis syndrome","equivalent_identifiers":["MONDO:0017332","orphanet:289478","EFO:0009009","UMLS:C5191642","MEDDRA:10084535","MEDDRA:10084537","SNOMEDCT:785724007","medgen:1681766"],"information_content":100.0}
{"id":"MONDO:0017334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"12q15q21.1 microdeletion syndrome","equivalent_identifiers":["MONDO:0017334","orphanet:289513","UMLS:C4518344","SNOMEDCT:734030009","medgen:1383455"],"information_content":100.0}
{"id":"MONDO:0017335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microtriplication 11q24.1","equivalent_identifiers":["MONDO:0017335","orphanet:289522","UMLS:C4749373","SNOMEDCT:770663003","medgen:1656562"],"information_content":100.0}
{"id":"MONDO:0017337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency","equivalent_identifiers":["MONDO:0017337","orphanet:289548","UMLS:C4707238","SNOMEDCT:764960005","medgen:1643960"],"information_content":100.0}
{"id":"MONDO:0017339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exfoliative ichthyosis","equivalent_identifiers":["MONDO:0017339","orphanet:289586","UMLS:C1838440","MESH:C563978","SNOMEDCT:763768001","medgen:325027"],"information_content":90.9}
{"id":"MONDO:0017340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile nasopharyngeal angiofibroma","equivalent_identifiers":["MONDO:0017340","orphanet:289596","UMLS:C1367536","MEDDRA:10073683","NCIT:C27479","SNOMEDCT:716590006","medgen:237137","HP:0030429"],"information_content":92.8}
{"id":"MONDO:0017353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal glycine encephalopathy","equivalent_identifiers":["MONDO:0017353","orphanet:289857","UMLS:C5548200","SNOMEDCT:1156803005","medgen:1785446","icd11.foundation:414151121"],"information_content":100.0}
{"id":"MONDO:0017354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile glycine encephalopathy","equivalent_identifiers":["MONDO:0017354","orphanet:289860","UMLS:C5548209","SNOMEDCT:1156826003","medgen:1781124","icd11.foundation:563302182"],"information_content":100.0}
{"id":"MONDO:0017359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria","equivalent_identifiers":["MONDO:0017359","DOID:0060336","OMIM.PS:250950","orphanet:289902","UMLS:C3696376","MESH:C579867","NCIT:C98678","SNOMEDCT:237950009","medgen:777186","icd11.foundation:1008261602","ICD10:E71.111","HP:0003535"],"information_content":84.2}
{"id":"MONDO:0017360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin B12-unresponsive methylmalonic acidemia type mut0","equivalent_identifiers":["MONDO:0017360","orphanet:289916","UMLS:C0342718","SNOMEDCT:237945003","medgen:575191"],"information_content":100.0}
{"id":"MONDO:0017361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital rubella syndrome","equivalent_identifiers":["MONDO:0017361","orphanet:290","EFO:0007218","UMLS:C0035921","MESH:D012410","MEDDRA:10010618","MEDDRA:10083496","NCIT:C34992","SNOMEDCT:1857005","medgen:19841","icd11.foundation:1059053724"],"information_content":100.0}
{"id":"MONDO:0017362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuralgic amyotrophy","equivalent_identifiers":["MONDO:0017362","orphanet:2901","UMLS:C1510479","MEDDRA:10029229","medgen:307145","icd11.foundation:302246011"],"information_content":100.0}
{"id":"MONDO:0017363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic chronic eosinophilic pneumonia","equivalent_identifiers":["MONDO:0017363","orphanet:2902","UMLS:C2930941","MESH:C535590","SNOMEDCT:724500003","medgen:443938","icd11.foundation:958353326"],"information_content":100.0}
{"id":"MONDO:0017364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"POEMS syndrome","equivalent_identifiers":["MONDO:0017364","DOID:14039","orphanet:2905","EFO:1001115","UMLS:C0085404","MESH:D016878","MEDDRA:10053869","MEDDRA:10053915","MEDDRA:10073023","MEDDRA:10090598","NCIT:C80303","SNOMEDCT:79268002","medgen:39276","icd11.foundation:1555299114"],"information_content":92.8}
{"id":"MONDO:0017365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary acrokeratotic poikiloderma, Weary type","equivalent_identifiers":["MONDO:0017365","orphanet:2907","UMLS:C0406556","SNOMEDCT:238835001","medgen:96059","icd11.foundation:837824031"],"information_content":100.0}
{"id":"MONDO:0017366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary pheochromocytoma-paraganglioma","equivalent_identifiers":["MONDO:0017366","orphanet:29072","UMLS:C1708353","NCIT:C48300","medgen:313270"],"information_content":83.6}
{"id":"MONDO:0017372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital varicella syndrome","equivalent_identifiers":["MONDO:0017372","orphanet:291","UMLS:C0343560","NCIT:C116800","SNOMEDCT:277644009","medgen:87473","icd11.foundation:2071159826"],"information_content":100.0}
{"id":"MONDO:0017373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"poliomyelitis","equivalent_identifiers":["MONDO:0017373","DOID:4953","orphanet:2912","EFO:0007450","UMLS:C0032371","MESH:D011051","MEDDRA:10001003","MEDDRA:10001100","MEDDRA:10036008","MEDDRA:10036009","MEDDRA:10036012","MEDDRA:10036013","MEDDRA:10036014","MEDDRA:10036016","MEDDRA:10072661","NCIT:C35550","SNOMEDCT:398102009","SNOMEDCT:398256009","medgen:18545","icd11.foundation:588527933","ICD10:A80","ICD9:045"],"information_content":87.2}
{"id":"MONDO:0017375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital enterovirus infection","equivalent_identifiers":["MONDO:0017375","orphanet:292","UMLS:C4274223","SNOMEDCT:716865000","medgen:904399","icd11.foundation:1981771784"],"information_content":100.0}
{"id":"MONDO:0017376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reiter Syndrome","equivalent_identifiers":["MONDO:0017376","DOID:6196","orphanet:29207","EFO:0007460","UMLS:C0035012","UMLS:C0085435","UMLS:C0152085","MESH:D016918","MEDDRA:10003267","MEDDRA:10016669","MEDDRA:10037994","MEDDRA:10038292","MEDDRA:10038293","MEDDRA:10038294","MEDDRA:10038295","MEDDRA:10057231","NCIT:C128332","NCIT:C34975","SNOMEDCT:129133005","SNOMEDCT:201736002","SNOMEDCT:239783001","SNOMEDCT:67224007","medgen:39047","ICD10:M02.10","ICD10:M02.3","ICD9:099.3","ICD9:711.30"],"information_content":100.0}
{"id":"MONDO:0017377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preaxial polydactyly-colobomata-intellectual disability syndrome","equivalent_identifiers":["MONDO:0017377","orphanet:2921","UMLS:C2931655","MESH:C537888","SNOMEDCT:733088002","medgen:444110"],"information_content":100.0}
{"id":"MONDO:0017379","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyneuropathy-intellectual disability-acromicria-premature menopause syndrome","equivalent_identifiers":["MONDO:0017379","orphanet:2928","UMLS:C4749397","SNOMEDCT:770679002","medgen:1665486"],"information_content":100.0}
{"id":"MONDO:0017381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital herpes simplex virus infection","equivalent_identifiers":["MONDO:0017381","orphanet:293","UMLS:C0276225","MEDDRA:10019949","SNOMEDCT:91576008","medgen:82910"],"information_content":100.0}
{"id":"MONDO:0017382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial clubfoot due to 5q31 microdeletion","equivalent_identifiers":["MONDO:0017382","orphanet:293144","UMLS:C5679944","medgen:1826065"],"information_content":100.0}
{"id":"MONDO:0017383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial clubfoot due to PITX1 point mutation","equivalent_identifiers":["MONDO:0017383","orphanet:293150","UMLS:C5679943","NCIT:C188148","medgen:1814442"],"information_content":100.0}
{"id":"MONDO:0017384","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute generalized exanthematous pustulosis","equivalent_identifiers":["MONDO:0017384","orphanet:293173","UMLS:C0877055","MESH:D056150","MEDDRA:10048468","MEDDRA:10048799","MEDDRA:10062372","NCIT:C112122","SNOMEDCT:702617007","medgen:209091"],"information_content":100.0}
{"id":"MONDO:0017385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant migrating partial seizures of infancy","equivalent_identifiers":["MONDO:0017385","orphanet:293181","UMLS:C3494976","NCIT:C125387","SNOMEDCT:784345005","medgen:782160"],"information_content":90.9}
{"id":"MONDO:0017386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleomorphic rhabdomyosarcoma","equivalent_identifiers":["MONDO:0017386","DOID:3250","orphanet:293199","UMLS:C0334480","NCIT:C4258","SNOMEDCT:404054005","medgen:137770"],"information_content":92.8}
{"id":"MONDO:0017389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria","equivalent_identifiers":["MONDO:0017389","orphanet:293284","UMLS:C5679945","medgen:1842546"],"information_content":100.0}
{"id":"MONDO:0017394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ketamine-induced biliary dilatation","equivalent_identifiers":["MONDO:0017394","orphanet:293807","UMLS:C4512018","SNOMEDCT:726613003","medgen:1380193"],"information_content":100.0}
{"id":"MONDO:0017395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fixed pigmented erythema","equivalent_identifiers":["MONDO:0017395","orphanet:293812","UMLS:C0221242","MEDDRA:10016740","NCIT:C111986","SNOMEDCT:73692007","medgen:526203","icd11.foundation:20014644"],"information_content":100.0}
{"id":"MONDO:0017398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3MC syndrome","equivalent_identifiers":["MONDO:0017398","DOID:0060225","OMIM.PS:257920","orphanet:293843","UMLS:C4303860","SNOMEDCT:720756005","medgen:929529","icd11.foundation:1294329406"],"information_content":90.9}
{"id":"MONDO:0017400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome","equivalent_identifiers":["MONDO:0017400","OMIM:615710","orphanet:293864","UMLS:C2748662","MESH:C567570","medgen:411637"],"information_content":100.0}
{"id":"MONDO:0017401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALVC","equivalent_identifiers":["MONDO:0017401","DOID:0070534","orphanet:293888","UMLS:C5925017","medgen:1863454"],"information_content":100.0}
{"id":"MONDO:0017402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated arrhythmogenic ventricular dysplasia, biventricular form","equivalent_identifiers":["MONDO:0017402","DOID:0070535","orphanet:293899","UMLS:C5925016","medgen:1864265"],"information_content":100.0}
{"id":"MONDO:0017403","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated arrhythmogenic ventricular dysplasia, right dominant form","equivalent_identifiers":["MONDO:0017403","orphanet:293910","UMLS:C5925015","medgen:1864032"],"information_content":100.0}
{"id":"MONDO:0017404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal Xq28 microduplication syndrome","equivalent_identifiers":["MONDO:0017404","orphanet:293939","UMLS:C4751127","SNOMEDCT:773670004","medgen:1655645"],"information_content":100.0}
{"id":"MONDO:0017405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"1p21.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0017405","orphanet:293948","UMLS:C4304578","SNOMEDCT:719600006","medgen:930247"],"information_content":100.0}
{"id":"MONDO:0017406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome","equivalent_identifiers":["MONDO:0017406","orphanet:293967","UMLS:C4751123","SNOMEDCT:773665006","medgen:1663043"],"information_content":100.0}
{"id":"MONDO:0017408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome","equivalent_identifiers":["MONDO:0017408","orphanet:293987","UMLS:C4751121","MEDDRA:10081396","MEDDRA:10081397","NCIT:C121944","SNOMEDCT:773663004","medgen:1670711"],"information_content":100.0}
{"id":"MONDO:0017409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal cytomegalovirus syndrome","equivalent_identifiers":["MONDO:0017409","orphanet:294","UMLS:C0158945","UMLS:C0349499","MEDDRA:10010420","MEDDRA:10010430","MEDDRA:10011828","MEDDRA:10011832","NCIT:C122427","SNOMEDCT:276701009","SNOMEDCT:59527008","medgen:578789","icd11.foundation:1515465998"],"information_content":100.0}
{"id":"MONDO:0017410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porencephaly","equivalent_identifiers":["MONDO:0017410","DOID:0060263","orphanet:2940","UMLS:C3698507","UMLS:C4082172","UMLS:C4082173","MESH:D065708","MEDDRA:10036170","NCIT:C99020","SNOMEDCT:65705009","SNOMEDCT:698837003","medgen:901502","icd11.foundation:137059367","ICD10:Q04.6","HP:0002132"],"information_content":88.2}
{"id":"MONDO:0017411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal inflammatory skin and bowel disease","equivalent_identifiers":["MONDO:0017411","OMIM.PS:614328","orphanet:294023","UMLS:C4751120","SNOMEDCT:773662009","medgen:1648296"],"information_content":92.8}
{"id":"MONDO:0017416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postpoliomyelitis syndrome","equivalent_identifiers":["MONDO:0017416","DOID:4952","orphanet:2942","EFO:0007454","UMLS:C0080040","MESH:D016262","MEDDRA:10036239","SNOMEDCT:31097004","medgen:36363","icd11.foundation:2018885243","ICD10:G14"],"information_content":100.0}
{"id":"MONDO:0017417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal-hepatic-pancreatic dysplasia","equivalent_identifiers":["MONDO:0017417","DOID:0060259","OMIM.PS:208540","orphanet:294415","UMLS:C2673883","MESH:C567142","SNOMEDCT:763891005","medgen:382215"],"information_content":92.8}
{"id":"MONDO:0017419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Amelia","equivalent_identifiers":["MONDO:0017419","orphanet:294925","UMLS:C0002447","MEDDRA:10001926","NCIT:C34370","SNOMEDCT:62588002","medgen:8014","HP:0009827"],"information_content":82.6}
{"id":"MONDO:0017425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preaxial polydactyly of fingers","equivalent_identifiers":["MONDO:0017425","OMIM.PS:174400","UMLS:C0345354","MEDDRA:10089192","MEDDRA:10089196","SNOMEDCT:205135003","medgen:87498","icd11.foundation:1066753144","HP:0100258"],"information_content":82.6}
{"id":"MONDO:0017426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postaxial polydactyly of fingers","equivalent_identifiers":["MONDO:0017426","UMLS:C0431904","SNOMEDCT:205131007","medgen:609221","icd11.foundation:1146378807","HP:0001162"],"information_content":90.9}
{"id":"MONDO:0017439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetra-amelia","equivalent_identifiers":["MONDO:0017439","orphanet:294971","UMLS:C2931216","MESH:C536498","SNOMEDCT:702313004","medgen:444004","HP:0003057"],"information_content":100.0}
{"id":"MONDO:0017441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Phocomelia","equivalent_identifiers":["MONDO:0017441","orphanet:294975","UMLS:C0031575","UMLS:C0265574","MEDDRA:10034923","NCIT:C34928","SNOMEDCT:22841008","SNOMEDCT:78018008","medgen:539337","icd11.foundation:1157109358","HP:0009829"],"information_content":90.9}
{"id":"MONDO:0017445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acheiria","equivalent_identifiers":["MONDO:0017445","orphanet:294983","UMLS:C0265594","MEDDRA:10084078","SNOMEDCT:1003510009","SNOMEDCT:371199008","medgen:488815","icd11.foundation:1428065029","HP:0004050"],"information_content":92.8}
{"id":"MONDO:0017446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"apodia","equivalent_identifiers":["MONDO:0017446","orphanet:294986","UMLS:C0265624","MEDDRA:10065338","SNOMEDCT:1003509004","SNOMEDCT:371197005","medgen:488816","icd11.foundation:1419324219","HP:0011301"],"information_content":92.8}
{"id":"MONDO:0017449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split hand","equivalent_identifiers":["MONDO:0017449","UMLS:C0221373","UMLS:C2699510","UMLS:C5550991","MEDDRA:10009258","MEDDRA:10010418","MEDDRA:10084413","MEDDRA:10084414","MEDDRA:10084418","SNOMEDCT:299034005","medgen:397570","icd11.foundation:924222970","HP:0001171"],"information_content":92.8}
{"id":"MONDO:0017450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"split foot","equivalent_identifiers":["MONDO:0017450","UMLS:C0432028","MEDDRA:10075491","SNOMEDCT:205358006","medgen:140919","icd11.foundation:1406855248","HP:0001839"],"information_content":92.8}
{"id":"MONDO:0017453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal parvovirus syndrome","equivalent_identifiers":["MONDO:0017453","orphanet:295","UMLS:C2931167","MESH:C536301","SNOMEDCT:715197005","medgen:443992","icd11.foundation:648536096"],"information_content":100.0}
{"id":"MONDO:0017454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triphalangeal thumb-polysyndactyly syndrome","equivalent_identifiers":["MONDO:0017454","OMIM:190605","UMLS:C5779878","SNOMEDCT:719950001","medgen:1830424"],"information_content":100.0}
{"id":"MONDO:0017456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central polydactyly of fingers","equivalent_identifiers":["MONDO:0017456","orphanet:295004","UMLS:C0431903","UMLS:C1848595","UMLS:C4020689","MEDDRA:10089193","SNOMEDCT:205130008","medgen:609220","icd11.foundation:243366415","HP:0100260"],"information_content":74.9}
{"id":"MONDO:0017461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated clinodactyly of fingers","equivalent_identifiers":["MONDO:0017461","orphanet:295014","UMLS:C0265610","UMLS:C4280298","UMLS:C4706540","SNOMEDCT:1003620005","SNOMEDCT:763691008","medgen:120550","HP:0040019"],"information_content":87.2}
{"id":"MONDO:0017470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital knee dislocation","equivalent_identifiers":["MONDO:0017470","orphanet:295034","UMLS:C0265669","MEDDRA:10010520","SNOMEDCT:59068006","medgen:75582","icd11.foundation:1229590493","HP:0005191"],"information_content":92.8}
{"id":"MONDO:0017471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital patella dislocation","equivalent_identifiers":["MONDO:0017471","orphanet:295036","UMLS:C0345360","MESH:C538081","SNOMEDCT:205067002","medgen:91041","icd11.foundation:1383302301"],"information_content":92.8}
{"id":"MONDO:0017474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrodactyly of fingers","equivalent_identifiers":["MONDO:0017474","orphanet:295044","UMLS:C0158763","UMLS:C0574044","MESH:C537720","MEDDRA:10025384","SNOMEDCT:297195000","SNOMEDCT:69381005","medgen:107892","icd11.foundation:1647254435","HP:0100746"],"information_content":92.8}
{"id":"MONDO:0017475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrodactyly of toes","equivalent_identifiers":["MONDO:0017475","orphanet:295047","UMLS:C0158768","UMLS:C2931596","MESH:C537719","MEDDRA:10025385","SNOMEDCT:4136000","medgen:510644","icd11.foundation:1196147958","HP:0100747"],"information_content":92.8}
{"id":"MONDO:0017476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"upper limb hypertrophy","equivalent_identifiers":["MONDO:0017476","orphanet:295049","UMLS:C0575518","SNOMEDCT:298745009","medgen:488921","icd11.foundation:663591902","HP:0010484"],"information_content":95.4}
{"id":"MONDO:0017544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"zygodactyly type 3","equivalent_identifiers":["MONDO:0017544","orphanet:295191","UMLS:C5679983","medgen:1843229","icd11.foundation:1831534806"],"information_content":100.0}
{"id":"MONDO:0017546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital vertical talus, unilateral","equivalent_identifiers":["MONDO:0017546","orphanet:295201","UMLS:C5681089","medgen:1842526","icd11.foundation:2123428798"],"information_content":100.0}
{"id":"MONDO:0017547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital vertical talus, bilateral","equivalent_identifiers":["MONDO:0017547","orphanet:295203","UMLS:C1860446","SNOMEDCT:890353006","medgen:349821","icd11.foundation:1224987332"],"information_content":100.0}
{"id":"MONDO:0017560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Genu recurvatum","equivalent_identifiers":["MONDO:0017560","orphanet:295229","UMLS:C0152235","UMLS:C0546964","MEDDRA:10018194","NCIT:C103184","SNOMEDCT:205063003","medgen:508941","icd11.foundation:1709221347","HP:0002816"],"information_content":100.0}
{"id":"MONDO:0017564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrodactyly of fingers, unilateral","equivalent_identifiers":["MONDO:0017564","orphanet:295239","UMLS:C5679987","medgen:1843434","icd11.foundation:128394973"],"information_content":100.0}
{"id":"MONDO:0017566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrodactyly of toes, unilateral","equivalent_identifiers":["MONDO:0017566","orphanet:295243","UMLS:C5679988","medgen:1843435","icd11.foundation:1009940304"],"information_content":100.0}
{"id":"MONDO:0017568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prata-Liberal-Goncalves syndrome","equivalent_identifiers":["MONDO:0017568","orphanet:2956","UMLS:C2931761","MESH:C538180","SNOMEDCT:773773006","medgen:419156"],"information_content":100.0}
{"id":"MONDO:0017569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"de Barsy syndrome","equivalent_identifiers":["MONDO:0017569","DOID:0070143","orphanet:2962","UMLS:C0268354","MESH:C535990","MEDDRA:10083947","SNOMEDCT:238826008","medgen:82794"],"information_content":92.8}
{"id":"MONDO:0017570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukocyte adhesion deficiency","equivalent_identifiers":["MONDO:0017570","DOID:611","DOID:6612","orphanet:2968","EFO:1001359","UMLS:C0242597","UMLS:C0272187","MESH:D018370","MEDDRA:10090483","NCIT:C27874","SNOMEDCT:77358003","medgen:124419","icd11.foundation:317341989"],"information_content":82.1}
{"id":"MONDO:0017572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tick-borne encephalitis","equivalent_identifiers":["MONDO:0017572","DOID:0050175","orphanet:297","EFO:1001309","UMLS:C0014054","UMLS:C0014061","UMLS:C0015632","MESH:D004675","MEDDRA:10007931","MEDDRA:10043847","MEDDRA:10043848","MEDDRA:10056378","MEDDRA:10056421","NCIT:C34579","SNOMEDCT:16901001","SNOMEDCT:186591007","SNOMEDCT:414093008","SNOMEDCT:415821008","medgen:4034","icd11.foundation:835129952","ICD10:A84.1","ICD9:063.2"],"information_content":100.0}
{"id":"MONDO:0017573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XX disorder of sex development-anorectal anomalies syndrome","equivalent_identifiers":["MONDO:0017573","orphanet:2973","UMLS:C4518078","SNOMEDCT:733622000","medgen:1382292"],"information_content":100.0}
{"id":"MONDO:0017574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic intestinal pseudoobstruction","equivalent_identifiers":["MONDO:0017574","orphanet:2978","UMLS:C0238062","MEDDRA:10088266","NCIT:C192634","SNOMEDCT:235828008","medgen:536759"],"information_content":88.2}
{"id":"MONDO:0017575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial neurogastrointestinal encephalomyopathy","equivalent_identifiers":["MONDO:0017575","orphanet:298","UMLS:C0872218","MESH:C537477","MEDDRA:10065271","NCIT:C119678","SNOMEDCT:718214007","medgen:167876"],"information_content":89.4}
{"id":"MONDO:0017576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XX disorder of sex development","equivalent_identifiers":["MONDO:0017576","orphanet:2982","UMLS:C0238394","UMLS:C2936403","MESH:D058489","MEDDRA:10016409","MEDDRA:10037123","NCIT:C127169","SNOMEDCT:8800006","SNOMEDCT:890460004","medgen:424728","HP:0010458"],"information_content":84.2}
{"id":"MONDO:0017577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spontaneous periodic hypothermia","equivalent_identifiers":["MONDO:0017577","orphanet:29822","UMLS:C2931542","MESH:C537594","medgen:419438"],"information_content":100.0}
{"id":"MONDO:0017579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Baraitser-Winter cerebrofrontofacial syndrome","equivalent_identifiers":["MONDO:0017579","DOID:0060229","OMIM.PS:243310","orphanet:2995","UMLS:C1853623","MESH:C565258","SNOMEDCT:702410002","medgen:340016"],"information_content":92.8}
{"id":"MONDO:0017580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"11p15.4 microduplication syndrome","equivalent_identifiers":["MONDO:0017580","orphanet:300305","UMLS:C4749508","SNOMEDCT:770794008","medgen:1660019"],"information_content":100.0}
{"id":"MONDO:0017582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary adenocarcinoma","equivalent_identifiers":["MONDO:0017582","DOID:4916","orphanet:300385","UMLS:C0346300","NCIT:C4536","SNOMEDCT:128665000","SNOMEDCT:254955001","medgen:91096","HP:0011763"],"information_content":85.5}
{"id":"MONDO:0017583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mirror polydactyly-vertebral segmentation-limbs defects syndrome","equivalent_identifiers":["MONDO:0017583","orphanet:3004","UMLS:C4275100","SNOMEDCT:715523005","medgen:904039"],"information_content":100.0}
{"id":"MONDO:0017584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sagliker syndrome","equivalent_identifiers":["MONDO:0017584","orphanet:300493","UMLS:C5681093","SNOMEDCT:1208934006","medgen:1808631"],"information_content":100.0}
{"id":"MONDO:0017593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile amyotrophic lateral sclerosis","equivalent_identifiers":["MONDO:0017593","orphanet:300605","UMLS:C3468114","SNOMEDCT:718555006","medgen:923704"],"information_content":89.4}
{"id":"MONDO:0017598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary cutaneous anaplastic large cell lymphoma","equivalent_identifiers":["MONDO:0017598","orphanet:300865","UMLS:C1301362","MESH:D054446","MEDDRA:10065863","NCIT:C6860","SNOMEDCT:128875000","SNOMEDCT:397352006","SNOMEDCT:773995001","medgen:266255","icd11.foundation:1972636482"],"information_content":89.4}
{"id":"MONDO:0017602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALK-positive anaplastic large cell lymphoma","equivalent_identifiers":["MONDO:0017602","orphanet:300895","UMLS:C1332079","NCIT:C37193","medgen:233117"],"information_content":80.2}
{"id":"MONDO:0017607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"caudal regression sequence","equivalent_identifiers":["MONDO:0017607","DOID:0080700","orphanet:3027","UMLS:C0300948","UMLS:C4086146","MEDDRA:10059387","NCIT:C124505","SNOMEDCT:8301004","medgen:81254","icd11.foundation:269997265"],"information_content":100.0}
{"id":"MONDO:0017609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubular dysgenesis","equivalent_identifiers":["MONDO:0017609","OMIM:106180","OMIM:614519","orphanet:3033","UMLS:C0266313","UMLS:C1856857","UMLS:C1862873","UMLS:C1862874","UMLS:C1862876","UMLS:C1862877","UMLS:C1862886","UMLS:C3281105","UMLS:C4015787","MESH:C537048","SNOMEDCT:702397002","medgen:82738","icd11.foundation:191424358","HP:0008660"],"information_content":89.4}
{"id":"MONDO:0017614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome","equivalent_identifiers":["MONDO:0017614","orphanet:3055","UMLS:C0796264","MESH:C536715","SNOMEDCT:765471005","medgen:162925"],"information_content":100.0}
{"id":"MONDO:0017615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign familial infantile epilepsy","equivalent_identifiers":["MONDO:0017615","DOID:0060169","OMIM.PS:601764","orphanet:306","UMLS:C5575231","NCIT:C183308","SNOMEDCT:1237571004","SNOMEDCT:230410004","medgen:1806836","icd11.foundation:1944845279"],"information_content":88.2}
{"id":"MONDO:0017627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital hereditary facial paralysis-variable hearing loss syndrome","equivalent_identifiers":["MONDO:0017627","orphanet:306530","UMLS:C4302592","SNOMEDCT:722389002","medgen:928261"],"information_content":92.8}
{"id":"MONDO:0017630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked complicated spastic paraplegia type 1","equivalent_identifiers":["MONDO:0017630","orphanet:306617","UMLS:C5779711","medgen:1843445"],"information_content":100.0}
{"id":"MONDO:0017636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemiparkinsonism-hemiatrophy syndrome","equivalent_identifiers":["MONDO:0017636","orphanet:306669","UMLS:C4545231","SNOMEDCT:737582007","medgen:1627807","icd11.foundation:193784690"],"information_content":100.0}
{"id":"MONDO:0017638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"manganese poisoning","equivalent_identifiers":["MONDO:0017638","orphanet:306682","EFO:1001808","UMLS:C0238263","UMLS:C0677050","MESH:D020149","MEDDRA:10058951","SNOMEDCT:447288004","SNOMEDCT:88687001"],"information_content":100.0}
{"id":"MONDO:0017639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carbon monoxide-induced parkinsonism","equivalent_identifiers":["MONDO:0017639","orphanet:306686","UMLS:C0393565","SNOMEDCT:230293003","medgen:581450"],"information_content":100.0}
{"id":"MONDO:0017640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cyanide-induced parkinsonism","equivalent_identifiers":["MONDO:0017640","orphanet:306692","UMLS:C4707859","SNOMEDCT:766872002","medgen:1639789","icd11.foundation:1717111858"],"information_content":100.0}
{"id":"MONDO:0017648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sydenham chorea","equivalent_identifiers":["MONDO:0017648","orphanet:306731","UMLS:C0152113","MEDDRA:10039049","MEDDRA:10042732","NCIT:C168445","SNOMEDCT:46826000","medgen:57506","icd11.foundation:1295812812"],"information_content":100.0}
{"id":"MONDO:0017649","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemidystonia-hemiatrophy syndrome","equivalent_identifiers":["MONDO:0017649","orphanet:306741","UMLS:C4510649","SNOMEDCT:724383002","medgen:1386711"],"information_content":100.0}
{"id":"MONDO:0017658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperekplexia","equivalent_identifiers":["MONDO:0017658","orphanet:306773","UMLS:C0234166","UMLS:C1740801","UMLS:C1836014","UMLS:C1848918","MESH:D000071017","MEDDRA:10058271","MEDDRA:10058274","MEDDRA:10058275","MEDDRA:10066482","SNOMEDCT:19557000","medgen:488800","HP:0002267"],"information_content":86.3}
{"id":"MONDO:0017666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tylosis","equivalent_identifiers":["MONDO:0017666","orphanet:307141","UMLS:C0022584","UMLS:C4021575","MESH:D015776","MEDDRA:10045206","NCIT:C3147","SNOMEDCT:400123002","medgen:7201","icd11.foundation:1259583500","HP:0007447"],"information_content":74.9}
{"id":"MONDO:0017668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-short stature-hypertelorism syndrome","equivalent_identifiers":["MONDO:0017668","orphanet:3074","UMLS:C4749650","SNOMEDCT:771077007","medgen:1665709"],"information_content":100.0}
{"id":"MONDO:0017675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"punctate palmoplantar keratoderma","equivalent_identifiers":["MONDO:0017675","DOID:0060361","orphanet:307967","UMLS:C1274216","UMLS:C4024851","SNOMEDCT:402773000","medgen:870406","icd11.foundation:1212361548","HP:0007530"],"information_content":87.2}
{"id":"MONDO:0017682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-polydactyly-uncombable hair syndrome","equivalent_identifiers":["MONDO:0017682","orphanet:3082","UMLS:C2931547","MESH:C537615","SNOMEDCT:763742008","medgen:444082"],"information_content":100.0}
{"id":"MONDO:0017683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methylcobalamin deficiency type cblDv1","equivalent_identifiers":["MONDO:0017683","orphanet:308380","UMLS:C5679956","medgen:1826168"],"information_content":100.0}
{"id":"MONDO:0017685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin B12-responsive methylmalonic acidemia, type cblDv2","equivalent_identifiers":["MONDO:0017685","orphanet:308442","UMLS:C1848554","medgen:376388"],"information_content":100.0}
{"id":"MONDO:0017691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrocyte galactose epimerase deficiency","equivalent_identifiers":["MONDO:0017691","orphanet:308473","UMLS:C0574090","SNOMEDCT:297238008","medgen:657805"],"information_content":100.0}
{"id":"MONDO:0017692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized galactose epimerase deficiency","equivalent_identifiers":["MONDO:0017692","orphanet:308487","UMLS:C0574089","SNOMEDCT:297237003","medgen:657804"],"information_content":100.0}
{"id":"MONDO:0017694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to acid maltase deficiency, infantile onset","equivalent_identifiers":["MONDO:0017694","orphanet:308552","UMLS:C3888924","MEDDRA:10075700","SNOMEDCT:722302009","medgen:923868","icd11.foundation:1496243702"],"information_content":100.0}
{"id":"MONDO:0017695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form","equivalent_identifiers":["MONDO:0017695","orphanet:308621","UMLS:C5679972","medgen:1826169"],"information_content":100.0}
{"id":"MONDO:0017696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form","equivalent_identifiers":["MONDO:0017696","orphanet:308638","UMLS:C1856302","MESH:C565540","medgen:344701"],"information_content":100.0}
{"id":"MONDO:0017697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","equivalent_identifiers":["MONDO:0017697","orphanet:308655","UMLS:C1856303","MESH:C565541","medgen:383883"],"information_content":100.0}
{"id":"MONDO:0017698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","equivalent_identifiers":["MONDO:0017698","orphanet:308670","UMLS:C1856304","MESH:C565542","medgen:343523"],"information_content":100.0}
{"id":"MONDO:0017699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","equivalent_identifiers":["MONDO:0017699","orphanet:308684","UMLS:C5679969","medgen:1842442"],"information_content":100.0}
{"id":"MONDO:0017700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","equivalent_identifiers":["MONDO:0017700","orphanet:308698","UMLS:C1856305","MESH:C565543","medgen:343524"],"information_content":100.0}
{"id":"MONDO:0017701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form","equivalent_identifiers":["MONDO:0017701","orphanet:308712","UMLS:C1856306","MESH:C565544","medgen:343525"],"information_content":100.0}
{"id":"MONDO:0017711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic colipase deficiency","equivalent_identifiers":["MONDO:0017711","orphanet:309108","UMLS:C0268241","SNOMEDCT:69478001","medgen:452357","icd11.foundation:11281354"],"information_content":100.0}
{"id":"MONDO:0017715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-hydroxyacyl-CoA dehydrogenase deficiency","equivalent_identifiers":["MONDO:0017715","OMIM:231530","orphanet:309127","UMLS:C1291230","MESH:C535310","SNOMEDCT:124122005","medgen:266222"],"information_content":100.0}
{"id":"MONDO:0017721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sandhoff disease, infantile form","equivalent_identifiers":["MONDO:0017721","orphanet:309155","UMLS:C0342805","UMLS:C0751490","SNOMEDCT:238018004","medgen:199669"],"information_content":100.0}
{"id":"MONDO:0017722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sandhoff disease, juvenile form","equivalent_identifiers":["MONDO:0017722","orphanet:309162","UMLS:C0342806","UMLS:C0751491","SNOMEDCT:238019007","medgen:148320"],"information_content":100.0}
{"id":"MONDO:0017723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sandhoff disease, adult form","equivalent_identifiers":["MONDO:0017723","orphanet:309169","UMLS:C0342807","UMLS:C0751489","SNOMEDCT:238020001","medgen:148319"],"information_content":100.0}
{"id":"MONDO:0017724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tay-Sachs disease, b variant, infantile form","equivalent_identifiers":["MONDO:0017724","orphanet:309178","UMLS:C0342809","UMLS:C5925031","SNOMEDCT:238021002","medgen:1863558"],"information_content":100.0}
{"id":"MONDO:0017725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tay-Sachs disease, b variant, juvenile form","equivalent_identifiers":["MONDO:0017725","orphanet:309185","UMLS:C0342810","UMLS:C5925030","SNOMEDCT:238022009","medgen:1863740"],"information_content":100.0}
{"id":"MONDO:0017726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tay-Sachs disease, B variant, adult form","equivalent_identifiers":["MONDO:0017726","orphanet:309192","UMLS:C0342811","UMLS:C1848914","MESH:C564783","SNOMEDCT:238023004","medgen:336450"],"information_content":100.0}
{"id":"MONDO:0017727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fixed subaortic stenosis","equivalent_identifiers":["MONDO:0017727","orphanet:3092","UMLS:C0265853","SNOMEDCT:8712002","medgen:539538","icd11.foundation:1471062257"],"information_content":92.8}
{"id":"MONDO:0017729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metachromatic leukodystrophy, late infantile form","equivalent_identifiers":["MONDO:0017729","orphanet:309256","UMLS:C0751278","SNOMEDCT:40802007","SNOMEDCT:47683004","medgen:155529"],"information_content":100.0}
{"id":"MONDO:0017730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metachromatic leukodystrophy, adult form","equivalent_identifiers":["MONDO:0017730","orphanet:309271","UMLS:C0751279","SNOMEDCT:24326000","medgen:199625"],"information_content":100.0}
{"id":"MONDO:0017732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-mannosidosis, infantile form","equivalent_identifiers":["MONDO:0017732","orphanet:309282","UMLS:C0342847","medgen:575250"],"information_content":100.0}
{"id":"MONDO:0017733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-mannosidosis, adult form","equivalent_identifiers":["MONDO:0017733","orphanet:309288","UMLS:C0342848","UMLS:C5679974","SNOMEDCT:58112007","medgen:1843432"],"information_content":100.0}
{"id":"MONDO:0017735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital aortic valve stenosis","equivalent_identifiers":["MONDO:0017735","orphanet:3093","UMLS:C0152417","UMLS:C0265890","MEDDRA:10002908","MEDDRA:10002919","MEDDRA:10010369","MEDDRA:10010371","MEDDRA:10010636","NCIT:C197885","SNOMEDCT:18546004","SNOMEDCT:21234008","medgen:509030","icd11.foundation:1824398514"],"information_content":92.8}
{"id":"MONDO:0017737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermediate severe Salla disease","equivalent_identifiers":["MONDO:0017737","orphanet:309331","UMLS:C5681076","medgen:1843217"],"information_content":100.0}
{"id":"MONDO:0017746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical Rett syndrome","equivalent_identifiers":["MONDO:0017746","orphanet:3095","UMLS:C2748910","MESH:C567576","SNOMEDCT:718393002","medgen:440664","icd11.foundation:605088126"],"information_content":92.8}
{"id":"MONDO:0017767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rheumatic fever","equivalent_identifiers":["MONDO:0017767","DOID:1586","orphanet:3099","EFO:1001160","UMLS:C0035436","UMLS:C0264743","MESH:D012213","MEDDRA:10001060","MEDDRA:10039054","MEDDRA:10072738","MEDDRA:10075557","NCIT:C34984","SNOMEDCT:195528001","SNOMEDCT:24363009","SNOMEDCT:58718002","SNOMEDCT:81077008","medgen:48448","ICD10:I00","ICD10:I00-I02","ICD9:390","ICD9:390-392.99"],"information_content":100.0}
{"id":"MONDO:0017771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mayer-Rokitansky-Kuster-Hauser syndrome","equivalent_identifiers":["MONDO:0017771","DOID:0112177","orphanet:3109","UMLS:C0431648","MEDDRA:10065148","NCIT:C124853","SNOMEDCT:1354648006","SNOMEDCT:8793008","medgen:140915"],"information_content":92.8}
{"id":"MONDO:0017773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoalphalipoproteinemia","equivalent_identifiers":["MONDO:0017773","orphanet:31153","EFO:0004612","UMLS:C0151691","UMLS:C0473527","MESH:D052456","MEDDRA:10011963","MEDDRA:10019185","MEDDRA:10019186","MEDDRA:10019188","MEDDRA:10020054","MEDDRA:10020057","MEDDRA:10020059","MEDDRA:10020060","MEDDRA:10024915","MEDDRA:10065133","MEDDRA:10065156","NCIT:C105587","NCIT:C84774","SNOMEDCT:190785000","SNOMEDCT:28036006","medgen:57731","icd11.foundation:1731667610","HP:0003233"],"information_content":86.3}
{"id":"MONDO:0017774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypobetalipoproteinemia","equivalent_identifiers":["MONDO:0017774","DOID:1390","orphanet:31154","UMLS:C0020597","UMLS:C0853085","MESH:D006995","MEDDRA:10011972","MEDDRA:10024058","MEDDRA:10024904","MEDDRA:10024907","MEDDRA:10024909","MEDDRA:10024917","SNOMEDCT:190786004","medgen:6978","icd11.foundation:1934975006","HP:0003563"],"information_content":89.4}
{"id":"MONDO:0017775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melioidosis","equivalent_identifiers":["MONDO:0017775","DOID:5052","orphanet:31202","UMLS:C0025229","UMLS:C0348971","MESH:D008554","MEDDRA:10027165","MEDDRA:10037137","MEDDRA:10053031","MEDDRA:10069748","NCIT:C128336","SNOMEDCT:186312003","SNOMEDCT:428111003","medgen:44346","icd11.foundation:2129350166","ICD10:A24.9","ICD9:025"],"information_content":95.4}
{"id":"MONDO:0017776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nocardiosis","equivalent_identifiers":["MONDO:0017776","DOID:2312","orphanet:31204","EFO:0007397","UMLS:C0028242","MESH:D009617","MEDDRA:10029443","MEDDRA:10029444","MEDDRA:10064083","NCIT:C171147","SNOMEDCT:29227009","medgen:18067","icd11.foundation:6555116","ICD10:A43"],"information_content":100.0}
{"id":"MONDO:0017778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lamellar ichthyosis","equivalent_identifiers":["MONDO:0017778","orphanet:313","UMLS:C5848247","MEDDRA:10009926","MEDDRA:10023686","NCIT:C84805","medgen:1852191","icd11.foundation:600146417"],"information_content":86.3}
{"id":"MONDO:0017779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-N-acetylgalactosaminidase deficiency","equivalent_identifiers":["MONDO:0017779","DOID:0112317","orphanet:3137","UMLS:C5848084","SNOMEDCT:238048001","medgen:1845666","icd11.foundation:1647881428"],"information_content":90.9}
{"id":"MONDO:0017780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"20p13 microdeletion syndrome","equivalent_identifiers":["MONDO:0017780","orphanet:313781","UMLS:C4750789","SNOMEDCT:773346008","medgen:1655817"],"information_content":100.0}
{"id":"MONDO:0017781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"12p12.1 microdeletion syndrome","equivalent_identifiers":["MONDO:0017781","orphanet:313884","UMLS:C4755260","SNOMEDCT:778007004","medgen:1652598"],"information_content":100.0}
{"id":"MONDO:0017782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and speech delay due to SOX5 deficiency","equivalent_identifiers":["MONDO:0017782","orphanet:313892","UMLS:C4749915","SNOMEDCT:771472009","medgen:1660895"],"information_content":100.0}
{"id":"MONDO:0017783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital pancreatic cyst","equivalent_identifiers":["MONDO:0017783","orphanet:313906","UMLS:C0341480","SNOMEDCT:204808002","medgen:574418","icd11.foundation:981856956"],"information_content":100.0}
{"id":"MONDO:0017786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2q23.1 microduplication syndrome","equivalent_identifiers":["MONDO:0017786","orphanet:313947","UMLS:C4707847","SNOMEDCT:766816008","medgen:1647644"],"information_content":100.0}
{"id":"MONDO:0017787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythroderma desquamativum","equivalent_identifiers":["MONDO:0017787","orphanet:314","UMLS:C2930920","UMLS:C5551904","MESH:C535512","MEDDRA:10039790","MEDDRA:10058251","SNOMEDCT:7297005","medgen:1790529"],"information_content":100.0}
{"id":"MONDO:0017790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric adenocarcinoma and proximal polyposis of the stomach","equivalent_identifiers":["MONDO:0017790","OMIM:619182","orphanet:314022","UMLS:C4749917","NCIT:C172989","SNOMEDCT:771474005","medgen:1657285"],"information_content":100.0}
{"id":"MONDO:0017791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"high bone mass osteogenesis imperfecta","equivalent_identifiers":["MONDO:0017791","orphanet:314029","UMLS:C5190607","SNOMEDCT:782781006","medgen:1672817"],"information_content":100.0}
{"id":"MONDO:0017792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"7p22.1 microduplication syndrome","equivalent_identifiers":["MONDO:0017792","orphanet:314034","UMLS:C4707093","SNOMEDCT:764703002","medgen:1641886"],"information_content":100.0}
{"id":"MONDO:0017794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Xq12-q13.3 duplication syndrome","equivalent_identifiers":["MONDO:0017794","orphanet:314389","UMLS:C4707094","SNOMEDCT:764711007","medgen:1648034"],"information_content":100.0}
{"id":"MONDO:0017802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian fibrothecoma","equivalent_identifiers":["MONDO:0017802","orphanet:314478","UMLS:C4707356","MEDDRA:10082757","SNOMEDCT:765190005","medgen:1635957"],"information_content":100.0}
{"id":"MONDO:0017805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome","equivalent_identifiers":["MONDO:0017805","orphanet:314575","UMLS:C4751073","SNOMEDCT:773621003","medgen:1655593"],"information_content":100.0}
{"id":"MONDO:0017806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"15q overgrowth syndrome","equivalent_identifiers":["MONDO:0017806","orphanet:314585","UMLS:C4749920","SNOMEDCT:771477003","medgen:1661769"],"information_content":92.8}
{"id":"MONDO:0017808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duplication of the pituitary gland","equivalent_identifiers":["MONDO:0017808","orphanet:314621","UMLS:C4755258","SNOMEDCT:778005007","medgen:1663161"],"information_content":100.0}
{"id":"MONDO:0017809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parkinsonism due to ATP13A2 deficiency","equivalent_identifiers":["MONDO:0017809","orphanet:314632","UMLS:C5230619","SNOMEDCT:789657008"],"information_content":100.0}
{"id":"MONDO:0017810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"variant ABeta2M amyloidosis","equivalent_identifiers":["MONDO:0017810","DOID:0080929","orphanet:314652","UMLS:C4302669","SNOMEDCT:722292000","medgen:928338","icd11.foundation:1466418791"],"information_content":100.0}
{"id":"MONDO:0017811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion","equivalent_identifiers":["MONDO:0017811","orphanet:314655","UMLS:C4708510","SNOMEDCT:768555009","medgen:1636705"],"information_content":100.0}
{"id":"MONDO:0017812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"segmental progressive overgrowth syndrome with fibroadipose hyperplasia","equivalent_identifiers":["MONDO:0017812","orphanet:314662","UMLS:C5192432","SNOMEDCT:787094005","medgen:1673986"],"information_content":100.0}
{"id":"MONDO:0017813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van Maldergem syndrome","equivalent_identifiers":["MONDO:0017813","DOID:0060238","OMIM.PS:601390","orphanet:314679","UMLS:C1832390","MESH:C536530","SNOMEDCT:763353000","medgen:318616"],"information_content":92.8}
{"id":"MONDO:0017818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal arteriopathy syndrome due to fibulin-4 deficiency","equivalent_identifiers":["MONDO:0017818","orphanet:314718","UMLS:C5190604","SNOMEDCT:782773005","medgen:1673111"],"information_content":100.0}
{"id":"MONDO:0017819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical dentin dysplasia due to SMOC2 deficiency","equivalent_identifiers":["MONDO:0017819","orphanet:314721","UMLS:C5190802","SNOMEDCT:783059004","medgen:1673452"],"information_content":100.0}
{"id":"MONDO:0017823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"somatomammotropinoma","equivalent_identifiers":["MONDO:0017823","orphanet:314769","UMLS:C1708927","UMLS:C4755297","NCIT:C45928","SNOMEDCT:778046002","medgen:1649254"],"information_content":100.0}
{"id":"MONDO:0017824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated pituitary adenoma","equivalent_identifiers":["MONDO:0017824","OMIM.PS:102200","orphanet:314777","UMLS:C2676191","MESH:C566321","MEDDRA:10080510","SNOMEDCT:702375004","medgen:436629"],"information_content":87.2}
{"id":"MONDO:0017825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silent pituitary adenoma","equivalent_identifiers":["MONDO:0017825","orphanet:314786","UMLS:C0338078","MEDDRA:10029556","SNOMEDCT:1156905002","SNOMEDCT:254962005","medgen:90850","HP:0011761"],"information_content":100.0}
{"id":"MONDO:0017826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"null pituitary adenoma","equivalent_identifiers":["MONDO:0017826","orphanet:314790","UMLS:C1709286","UMLS:C5680967","NCIT:C45924","medgen:1813085"],"information_content":100.0}
{"id":"MONDO:0017827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant peripheral nerve sheath tumor","equivalent_identifiers":["MONDO:0017827","DOID:5940","orphanet:3148","EFO:0000760","UMLS:C0206729","UMLS:C0751690","UMLS:C1321708","MEDDRA:10026667","MEDDRA:10029236","MEDDRA:10029239","MEDDRA:10029273","MEDDRA:10029276","MEDDRA:10034589","MEDDRA:10034590","MEDDRA:10058387","MEDDRA:10061527","MEDDRA:10073836","MEDDRA:10081318","NCIT:C3798","SNOMEDCT:19897006","SNOMEDCT:404037002","SNOMEDCT:77418004","medgen:155614","icd11.foundation:71413945","HP:0100697"],"information_content":74.7}
{"id":"MONDO:0017830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe Canavan disease","equivalent_identifiers":["MONDO:0017830","orphanet:314911","UMLS:C5575558","medgen:1826002"],"information_content":100.0}
{"id":"MONDO:0017831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mild Canavan disease","equivalent_identifiers":["MONDO:0017831","orphanet:314918","UMLS:C4017127","medgen:865564"],"information_content":100.0}
{"id":"MONDO:0017833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary hypereosinophilic syndrome","equivalent_identifiers":["MONDO:0017833","orphanet:314950","UMLS:C5679898","SNOMEDCT:1264010001","medgen:1830089"],"information_content":100.0}
{"id":"MONDO:0017836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrokeratoderma en cocardes","equivalent_identifiers":["MONDO:0017836","orphanet:315","UMLS:C5848050","SNOMEDCT:239062001","medgen:1845700"],"information_content":100.0}
{"id":"MONDO:0017837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple sclerosis-ichthyosis-factor VIII deficiency syndrome","equivalent_identifiers":["MONDO:0017837","orphanet:3151","UMLS:C4518551","SNOMEDCT:733028000","medgen:1391655"],"information_content":100.0}
{"id":"MONDO:0017838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sclerosteosis","equivalent_identifiers":["MONDO:0017838","DOID:0060251","OMIM.PS:269500","orphanet:3152","UMLS:C0265301","MESH:C537525","NCIT:C131133","SNOMEDCT:17568006","medgen:120530","icd11.foundation:371637416"],"information_content":92.8}
{"id":"MONDO:0017839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","equivalent_identifiers":["MONDO:0017839","orphanet:315306","UMLS:C5679896","medgen:1826062"],"information_content":100.0}
{"id":"MONDO:0017840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","equivalent_identifiers":["MONDO:0017840","orphanet:315311","UMLS:C5679895","medgen:1826061"],"information_content":100.0}
{"id":"MONDO:0017842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Loken syndrome","equivalent_identifiers":["MONDO:0017842","DOID:0050576","OMIM.PS:266900","orphanet:3156","UMLS:C0403553","MESH:C537580","MEDDRA:10084074","NCIT:C168588","medgen:96045","icd11.foundation:1975732692","ICD10:Q61.5"],"information_content":84.8}
{"id":"MONDO:0017843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital pulmonary sequestration","equivalent_identifiers":["MONDO:0017843","orphanet:3161","UMLS:C0006288","UMLS:C4020703","MESH:D001998","MEDDRA:10059160","NCIT:C97124","SNOMEDCT:18620009","medgen:892881","icd11.foundation:1833083626","HP:0100632"],"information_content":90.9}
{"id":"MONDO:0017844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sezary syndrome","equivalent_identifiers":["MONDO:0017844","DOID:8541","orphanet:3162","EFO:1000785","UMLS:C0036920","MESH:D012751","MEDDRA:10040493","MEDDRA:10040500","MEDDRA:10040516","NCIT:C3366","SNOMEDCT:118611004","SNOMEDCT:4950009","medgen:19959","icd11.foundation:1358020385","ICD10:C84.1","ICD9:202.2"],"information_content":89.4}
{"id":"MONDO:0017845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia","equivalent_identifiers":["MONDO:0017845","DOID:0050952","OMIM.PS:108600","orphanet:316226","UMLS:C1849156","MESH:C564815","MEDDRA:10073037","medgen:376528","HP:0002497"],"information_content":81.7}
{"id":"MONDO:0017850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sirenomelia","equivalent_identifiers":["MONDO:0017850","orphanet:3169","UMLS:C0037205","MEDDRA:10049216","MEDDRA:10072457","MEDDRA:10072464","NCIT:C118455","SNOMEDCT:253191000","SNOMEDCT:67254002","SNOMEDCT:723973002","SNOMEDCT:91089008","medgen:52357","icd11.foundation:473306797","HP:0010497"],"information_content":100.0}
{"id":"MONDO:0017851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrokeratodermia variabilis","equivalent_identifiers":["MONDO:0017851","DOID:0050467","OMIM.PS:133200","orphanet:308166","orphanet:316","orphanet:317","UMLS:C0265961","UMLS:C1851479","MESH:C536154","MESH:D056266","MEDDRA:10049048","NCIT:C84696","SNOMEDCT:70041004","medgen:75587","icd11.foundation:551200965"],"information_content":85.5}
{"id":"MONDO:0017852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile spasms-broad thumbs syndrome","equivalent_identifiers":["MONDO:0017852","orphanet:3173","UMLS:C4749287","SNOMEDCT:770438007","medgen:1667345"],"information_content":100.0}
{"id":"MONDO:0017853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypersensitivity pneumonitis","equivalent_identifiers":["MONDO:0017853","DOID:841","orphanet:31740","EFO:1001321","UMLS:C0002390","MESH:D000542","MEDDRA:10001890","MEDDRA:10001891","MEDDRA:10015887","MEDDRA:10035743","MEDDRA:10035754","MEDDRA:10081988","NCIT:C34369","SNOMEDCT:37471005","medgen:1446","ICD10:J67.9","ICD9:495","HP:0006516"],"information_content":82.1}
{"id":"MONDO:0017856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked spasticity-intellectual disability-epilepsy syndrome","equivalent_identifiers":["MONDO:0017856","orphanet:3175","UMLS:C4510949","SNOMEDCT:725163002","medgen:1376165"],"information_content":100.0}
{"id":"MONDO:0017857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spina bifida-hypospadias syndrome","equivalent_identifiers":["MONDO:0017857","orphanet:3176","UMLS:C4706660","SNOMEDCT:763889002","medgen:1638294"],"information_content":100.0}
{"id":"MONDO:0017858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythroleukemia","equivalent_identifiers":["MONDO:0017858","DOID:0080780","orphanet:318","EFO:0000218","EFO:1001955","UMLS:C0023440","MESH:D004915","MEDDRA:10000739","MEDDRA:10000740","MEDDRA:10012593","MEDDRA:10015245","MEDDRA:10015249","MEDDRA:10015281","MEDDRA:10015282","MEDDRA:10028579","MEDDRA:10042799","MEDDRA:10060401","NCIT:C8923","NCIT:C95993","SNOMEDCT:14317002","SNOMEDCT:93451002","medgen:7316","icd11.foundation:538743484","icd11.foundation:631263622"],"information_content":84.2}
{"id":"MONDO:0017859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colchicine poisoning","equivalent_identifiers":["MONDO:0017859","orphanet:31824","UMLS:C0274779","SNOMEDCT:24354007","icd11.foundation:1617857912"],"information_content":100.0}
{"id":"MONDO:0017860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methanol poisoning","equivalent_identifiers":["MONDO:0017860","orphanet:31825"],"information_content":100.0}
{"id":"MONDO:0017861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ethylene glycol poisoning","equivalent_identifiers":["MONDO:0017861","orphanet:31826","UMLS:C0413194","SNOMEDCT:426692001"],"information_content":100.0}
{"id":"MONDO:0017865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital pulmonary valve stenosis","equivalent_identifiers":["MONDO:0017865","orphanet:3189","UMLS:C0162164","MEDDRA:10010603","MEDDRA:10037451","MEDDRA:10041991","NCIT:C197884","SNOMEDCT:67278007","medgen:511533","icd11.foundation:353180069"],"information_content":89.4}
{"id":"MONDO:0017867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal 17p13.1 microdeletion syndrome","equivalent_identifiers":["MONDO:0017867","orphanet:319171","UMLS:C4749349","SNOMEDCT:770629000","medgen:1657963"],"information_content":100.0}
{"id":"MONDO:0017868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diencephalic-mesencephalic junction dysplasia","equivalent_identifiers":["MONDO:0017868","OMIM.PS:251280","orphanet:319192","UMLS:C4707858","SNOMEDCT:766871009","medgen:1641855"],"information_content":92.8}
{"id":"MONDO:0017869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondroectodermal dysplasia with night blindness","equivalent_identifiers":["MONDO:0017869","orphanet:319195","UMLS:C4706300","SNOMEDCT:763134002","medgen:1641815"],"information_content":100.0}
{"id":"MONDO:0017870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"supravalvular pulmonary stenosis","equivalent_identifiers":["MONDO:0017870","orphanet:3192","UMLS:C3280212","medgen:481842","HP:0034349"],"information_content":100.0}
{"id":"MONDO:0017872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lujo hemorrhagic fever","equivalent_identifiers":["MONDO:0017872","DOID:0050202","orphanet:319213","UMLS:C4274433","MESH:C000723471","MEDDRA:10079325","MEDDRA:10079329","SNOMEDCT:716585008","medgen:905662","ICD10:A96.8"],"information_content":100.0}
{"id":"MONDO:0017880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rift valley fever","equivalent_identifiers":["MONDO:0017880","DOID:1328","orphanet:319251","UMLS:C0035613","MESH:D012295","MEDDRA:10039143","MEDDRA:10039145","NCIT:C128419","SNOMEDCT:402917003","medgen:20589","icd11.foundation:854137188","ICD10:A92.4"],"information_content":100.0}
{"id":"MONDO:0017884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary renal cell carcinoma","equivalent_identifiers":["MONDO:0017884","DOID:4465","orphanet:319298","EFO:0000640","UMLS:C1306837","UMLS:C1336078","UMLS:C2931899","UMLS:CN205129","MESH:C538614","MEDDRA:10078493","NCIT:C27890","NCIT:C6975","SNOMEDCT:733607005","SNOMEDCT:733608000","medgen:266300","HP:0006766"],"information_content":82.6}
{"id":"MONDO:0017885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromophobe renal cell carcinoma","equivalent_identifiers":["MONDO:0017885","DOID:4471","orphanet:319303","EFO:0000335","UMLS:C1266042","UMLS:C3887514","MEDDRA:10080544","NCIT:C4146","SNOMEDCT:128667008","SNOMEDCT:1443001","SNOMEDCT:733471003","medgen:266091"],"information_content":83.1}
{"id":"MONDO:0017886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MIT family translocation renal cell carcinoma","equivalent_identifiers":["MONDO:0017886","DOID:0081413","orphanet:319308","UMLS:C4518356","NCIT:C154494","SNOMEDCT:733881007","SNOMEDCT:764694005","medgen:1376834"],"information_content":82.6}
{"id":"MONDO:0017892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive myogenic arthrogryposis multiplex congenita","equivalent_identifiers":["MONDO:0017892","orphanet:319332","UMLS:C4707155","SNOMEDCT:764812008","medgen:1647450"],"information_content":100.0}
{"id":"MONDO:0017893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited acute myeloid leukemia","equivalent_identifiers":["MONDO:0017893","orphanet:319465","UMLS:C1275661","UMLS:C4707228","NCIT:C7175","SNOMEDCT:764940002","medgen:1634915"],"information_content":67.2}
{"id":"MONDO:0017894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with CEBPA somatic mutations","equivalent_identifiers":["MONDO:0017894","DOID:0081095","orphanet:319480","UMLS:C4707178","NCIT:C82433","SNOMEDCT:764855007","medgen:1640289"],"information_content":86.3}
{"id":"MONDO:0017895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial papillary or follicular thyroid carcinoma","equivalent_identifiers":["MONDO:0017895","orphanet:319487","UMLS:C5191836","NCIT:C118829","SNOMEDCT:786038001","medgen:1681657"],"information_content":87.2}
{"id":"MONDO:0017896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial nonmedullary thyroid carcinoma","equivalent_identifiers":["MONDO:0017896","OMIM.PS:188550","orphanet:319494","UMLS:C3501843","medgen:502247","HP:0040198"],"information_content":84.8}
{"id":"MONDO:0017900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency","equivalent_identifiers":["MONDO:0017900","orphanet:319547","UMLS:C4303071","SNOMEDCT:721876004","medgen:928740"],"information_content":100.0}
{"id":"MONDO:0017901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency","equivalent_identifiers":["MONDO:0017901","orphanet:319569","UMLS:C4511091","SNOMEDCT:725431001","medgen:1379275"],"information_content":100.0}
{"id":"MONDO:0017902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency","equivalent_identifiers":["MONDO:0017902","orphanet:319574","UMLS:C4511098","SNOMEDCT:725432008","medgen:1387677"],"information_content":100.0}
{"id":"MONDO:0017903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency","equivalent_identifiers":["MONDO:0017903","orphanet:319589","UMLS:C4510875","SNOMEDCT:725151007","medgen:1371829"],"information_content":100.0}
{"id":"MONDO:0017904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"steroid dehydrogenase deficiency-dental anomalies syndrome","equivalent_identifiers":["MONDO:0017904","orphanet:3196","UMLS:C2931508","MESH:C537490","SNOMEDCT:723583009","medgen:419431"],"information_content":100.0}
{"id":"MONDO:0017905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked Mendelian susceptibility to mycobacterial diseases","equivalent_identifiers":["MONDO:0017905","orphanet:319605","UMLS:C4304413","SNOMEDCT:719814009","medgen:930082"],"information_content":95.4}
{"id":"MONDO:0017906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyloidosis cutis dyschromia","equivalent_identifiers":["MONDO:0017906","DOID:0080932","orphanet:319635","UMLS:C4554601","SNOMEDCT:764849002","medgen:1641859"],"information_content":100.0}
{"id":"MONDO:0017909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited glutathione synthetase deficiency","equivalent_identifiers":["MONDO:0017909","DOID:0080699","orphanet:32","MESH:C536835","NCIT:C128193","SNOMEDCT:234589002"],"information_content":92.8}
{"id":"MONDO:0017910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Xerocytosis","equivalent_identifiers":["MONDO:0017910","DOID:0111575","orphanet:3202","UMLS:C0272051","MESH:C536764","MEDDRA:10089900","SNOMEDCT:715526002","SNOMEDCT:87994004","medgen:124415","icd11.foundation:799088159"],"information_content":92.8}
{"id":"MONDO:0017917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternally-inherited spastic paraplegia","equivalent_identifiers":["MONDO:0017917","orphanet:320360","UMLS:C4755299","SNOMEDCT:778048001","medgen:1663227"],"information_content":100.0}
{"id":"MONDO:0017918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome","equivalent_identifiers":["MONDO:0017918","orphanet:3207","UMLS:C2931292","MESH:C536701","SNOMEDCT:783703004","medgen:419038"],"information_content":100.0}
{"id":"MONDO:0017919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"OEIS Complex","equivalent_identifiers":["MONDO:0017919","DOID:0080173","OMIM:258040","orphanet:322","UMLS:C1850321","MESH:D000099061","NCIT:C99142","medgen:338020"],"information_content":89.4}
{"id":"MONDO:0017920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome","equivalent_identifiers":["MONDO:0017920","orphanet:3224","UMLS:C2931654","MESH:C537887","SNOMEDCT:721086004","medgen:419464"],"information_content":100.0}
{"id":"MONDO:0017921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss-familial salivary gland insensitivity to aldosterone syndrome","equivalent_identifiers":["MONDO:0017921","orphanet:3225","UMLS:C2931369","UMLS:C4274756","MESH:C536927","SNOMEDCT:716239006","medgen:419395"],"information_content":100.0}
{"id":"MONDO:0017923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple synostoses syndrome","equivalent_identifiers":["MONDO:0017923","DOID:0050794","OMIM.PS:186500","orphanet:3237","UMLS:C0175700","medgen:511579","icd11.foundation:248917534"],"information_content":89.4}
{"id":"MONDO:0017924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central nervous system calcification-deafness-tubular acidosis-anemia syndrome","equivalent_identifiers":["MONDO:0017924","orphanet:3240","UMLS:C4512024","SNOMEDCT:726669007","medgen:1384620"],"information_content":100.0}
{"id":"MONDO:0017925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-cell immunodeficiency with epidermodysplasia verruciformis","equivalent_identifiers":["MONDO:0017925","orphanet:324294","UMLS:C4749500","SNOMEDCT:770785002","medgen:1648416"],"information_content":100.0}
{"id":"MONDO:0017926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple paragangliomas associated with polycythemia","equivalent_identifiers":["MONDO:0017926","orphanet:324299","UMLS:C5679884","SNOMEDCT:1197217007","medgen:1812993"],"information_content":100.0}
{"id":"MONDO:0017928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"9p13 microdeletion syndrome","equivalent_identifiers":["MONDO:0017928","orphanet:324313","UMLS:C4707097","SNOMEDCT:764725008","medgen:1635922"],"information_content":100.0}
{"id":"MONDO:0017932","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular hypertrophy-hepatomegaly-polyhydramnios syndrome","equivalent_identifiers":["MONDO:0017932","orphanet:324416","UMLS:C4751007","SNOMEDCT:773584001","medgen:1665387"],"information_content":100.0}
{"id":"MONDO:0017933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation","equivalent_identifiers":["MONDO:0017933","orphanet:324525","UMLS:C4749942","SNOMEDCT:771509001","medgen:1650300"],"information_content":100.0}
{"id":"MONDO:0017934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome","equivalent_identifiers":["MONDO:0017934","orphanet:324540","UMLS:C4751006","SNOMEDCT:773583007","medgen:1651057"],"information_content":100.0}
{"id":"MONDO:0017935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperinsulinism due to HNF1A deficiency","equivalent_identifiers":["MONDO:0017935","orphanet:324575","UMLS:C4303475","SNOMEDCT:721234004","medgen:929144"],"information_content":100.0}
{"id":"MONDO:0017936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign Samaritan congenital myopathy","equivalent_identifiers":["MONDO:0017936","orphanet:324581","UMLS:C4749502","SNOMEDCT:770787005","medgen:1666762"],"information_content":100.0}
{"id":"MONDO:0017937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain","equivalent_identifiers":["MONDO:0017937","orphanet:324585","UMLS:C4755257","SNOMEDCT:778003000","medgen:1650625"],"information_content":100.0}
{"id":"MONDO:0017939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Classic MmD","equivalent_identifiers":["MONDO:0017939","orphanet:324604","UMLS:C5679883","medgen:1826166"],"information_content":100.0}
{"id":"MONDO:0017940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","equivalent_identifiers":["MONDO:0017940","orphanet:324611","UMLS:C4707173","SNOMEDCT:764730007","medgen:1633598"],"information_content":100.0}
{"id":"MONDO:0017941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chikungunya","equivalent_identifiers":["MONDO:0017941","DOID:0050012","orphanet:324625","EFO:0008494","UMLS:C0008055","MESH:D065632","MEDDRA:10067256","NCIT:C128422","SNOMEDCT:111864006","medgen:3362","icd11.foundation:900389391"],"information_content":100.0}
{"id":"MONDO:0017943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoerythrocyte sensitization syndrome","equivalent_identifiers":["MONDO:0017943","orphanet:324636","UMLS:C0301928","MESH:C535645","MEDDRA:10078888","MEDDRA:10087424","MEDDRA:10087584","MEDDRA:10087585","MEDDRA:10087586","MEDDRA:10087587","SNOMEDCT:275446004","medgen:90141"],"information_content":100.0}
{"id":"MONDO:0017945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABetaL34V amyloidosis","equivalent_identifiers":["MONDO:0017945","orphanet:324703","UMLS:C5679882","medgen:1842835"],"information_content":100.0}
{"id":"MONDO:0017946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABeta amyloidosis, Iowa type","equivalent_identifiers":["MONDO:0017946","orphanet:324708","UMLS:C3888309","medgen:854855"],"information_content":100.0}
{"id":"MONDO:0017947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABeta amyloidosis, Italian type","equivalent_identifiers":["MONDO:0017947","orphanet:324713","UMLS:C3888308","medgen:854854"],"information_content":100.0}
{"id":"MONDO:0017948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABetaA21G amyloidosis","equivalent_identifiers":["MONDO:0017948","orphanet:324718","UMLS:C3888307","medgen:854853"],"information_content":100.0}
{"id":"MONDO:0017949","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABeta amyloidosis, Arctic type","equivalent_identifiers":["MONDO:0017949","orphanet:324723","UMLS:C2751494","medgen:414032"],"information_content":100.0}
{"id":"MONDO:0017967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Anorchism","equivalent_identifiers":["MONDO:0017967","orphanet:325124","UMLS:C0405582","UMLS:C1261504","MEDDRA:10002641","MEDDRA:10087911","SNOMEDCT:1003548004","SNOMEDCT:274151005","SNOMEDCT:371015003","medgen:98344","icd11.foundation:1382370664","HP:0030869"],"information_content":100.0}
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{"id":"MONDO:0017972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Classic CLAH","equivalent_identifiers":["MONDO:0017972","orphanet:325524","UMLS:C5679869","medgen:1842881"],"information_content":100.0}
{"id":"MONDO:0017973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-classic congenital lipoid adrenal hyperplasia due to STAR deficency","equivalent_identifiers":["MONDO:0017973","orphanet:325529","UMLS:C5680948","medgen:1842170"],"information_content":100.0}
{"id":"MONDO:0017979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune lymphoproliferative syndrome","equivalent_identifiers":["MONDO:0017979","DOID:6688","orphanet:3261","MESH:D056735","NCIT:C37864","icd11.foundation:1072688797","ICD10:D89.82","ICD9:279.41"],"information_content":79.6}
{"id":"MONDO:0017983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"humero-radio-ulnar synostosis","equivalent_identifiers":["MONDO:0017983","orphanet:3266","UMLS:C4751207","SNOMEDCT:773733000","medgen:1656946","icd11.foundation:1798339866"],"information_content":92.8}
{"id":"MONDO:0017985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital radioulnar synostosis","equivalent_identifiers":["MONDO:0017985","DOID:9827","orphanet:3269","UMLS:C0158761","MESH:C562408","MEDDRA:10037798","SNOMEDCT:33313004","medgen:57861","icd11.foundation:1098526181","ICD9:755.53","HP:0002974"],"information_content":89.4}
{"id":"MONDO:0017987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syringomyelia","equivalent_identifiers":["MONDO:0017987","DOID:327","orphanet:3280","UMLS:C0039144","UMLS:C1522522","MESH:D013595","MEDDRA:10042928","NCIT:C85179","SNOMEDCT:111496009","medgen:21449","icd11.foundation:1161887622","HP:0003396"],"information_content":88.2}
{"id":"MONDO:0017988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multifocal atrial tachycardia","equivalent_identifiers":["MONDO:0017988","orphanet:3282","UMLS:C0221158","MEDDRA:10052350","NCIT:C71050","SNOMEDCT:49982000","medgen:66362","icd11.foundation:262929566","HP:0011701"],"information_content":100.0}
{"id":"MONDO:0017989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"His bundle tachycardia","equivalent_identifiers":["MONDO:0017989","orphanet:3283","UMLS:C0039235","MESH:D013613","MEDDRA:10023246","MEDDRA:10074640","NCIT:C111646","SNOMEDCT:233901002","SNOMEDCT:251155001","SNOMEDCT:419166005","medgen:21066","icd11.foundation:962827983","HP:0011716"],"information_content":100.0}
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{"id":"MONDO:0017991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Takayasu arteritis","equivalent_identifiers":["MONDO:0017991","DOID:2508","OMIM:207600","orphanet:3287","orphanet:99079","EFO:1001857","UMLS:C0003490","UMLS:C0003510","UMLS:C0039263","UMLS:C3146222","MESH:D001015","MESH:D013625","MEDDRA:10002890","MEDDRA:10037496","MEDDRA:10043097","MEDDRA:10043098","MEDDRA:10058930","NCIT:C34391","NCIT:C35062","SNOMEDCT:239937004","SNOMEDCT:359789008","medgen:21458","icd11.foundation:1327645131","ICD10:M31.4","ICD9:446.7"],"information_content":100.0}
{"id":"MONDO:0017992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis","equivalent_identifiers":["MONDO:0017992","orphanet:329173","UMLS:C5394674","SNOMEDCT:829973009","medgen:1720168"],"information_content":100.0}
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{"id":"MONDO:0017999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatty acid hydroxylase-associated neurodegeneration","equivalent_identifiers":["MONDO:0017999","orphanet:329308","UMLS:C3668943","MESH:C580102","NCIT:C188989","SNOMEDCT:702419001","medgen:777150"],"information_content":100.0}
{"id":"MONDO:0018000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary thrombocytosis with transverse limb defect","equivalent_identifiers":["MONDO:0018000","orphanet:329319","UMLS:C4749944","SNOMEDCT:771511005","medgen:1653707"],"information_content":100.0}
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{"id":"MONDO:0018004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute megakaryoblastic leukemia without down syndrome","equivalent_identifiers":["MONDO:0018004","orphanet:329469","UMLS:C5679860","medgen:1843134"],"information_content":100.0}
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{"id":"MONDO:0018006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset distal myopathy due to VCP mutation","equivalent_identifiers":["MONDO:0018006","orphanet:329478","UMLS:C4749506","SNOMEDCT:770792007","medgen:1660404"],"information_content":100.0}
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{"id":"MONDO:0018015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermittent hydrarthrosis","equivalent_identifiers":["MONDO:0018015","orphanet:329967","UMLS:C0149910","SNOMEDCT:711286009","medgen:508453","icd11.foundation:1855039383"],"information_content":100.0}
{"id":"MONDO:0018018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wild type ATTR amyloidosis","equivalent_identifiers":["MONDO:0018018","DOID:0080937","orphanet:330001","UMLS:C0342623","MEDDRA:10083919","SNOMEDCT:237877004","medgen:87446"],"information_content":100.0}
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{"id":"MONDO:0018022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobin Lepore-beta-thalassemia syndrome","equivalent_identifiers":["MONDO:0018022","orphanet:330032","UMLS:C5679855","medgen:1826060"],"information_content":100.0}
{"id":"MONDO:0018023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobin M disease","equivalent_identifiers":["MONDO:0018023","OMIM:617971","orphanet:330041","UMLS:C1840779","UMLS:C3665425","MESH:C564192","MESH:C581942","SNOMEDCT:74912001","medgen:777099"],"information_content":100.0}
{"id":"MONDO:0018024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydroa vacciniforme","equivalent_identifiers":["MONDO:0018024","orphanet:330058","UMLS:C0020241","MESH:D006837","MEDDRA:10083442","NCIT:C84766","SNOMEDCT:200837006","medgen:5661","icd11.foundation:2053786485","HP:0032381"],"information_content":95.4}
{"id":"MONDO:0018025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic actinic dermatitis","equivalent_identifiers":["MONDO:0018025","orphanet:330064","UMLS:C0282309","SNOMEDCT:52636001","medgen:76406","icd11.foundation:248339081"],"information_content":100.0}
{"id":"MONDO:0018026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tetraploidy","equivalent_identifiers":["MONDO:0018026","orphanet:3305","UMLS:C0333694","UMLS:C0795884","MESH:D057891","SNOMEDCT:62749002","SNOMEDCT:726363000","medgen:163193","icd11.foundation:1705084192"],"information_content":100.0}
{"id":"MONDO:0018027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duplication/inversion 15q11","equivalent_identifiers":["MONDO:0018027","orphanet:3306","UMLS:C3711376","MESH:C580205","MEDDRA:10081682","SNOMEDCT:723332005","medgen:777984"],"information_content":100.0}
{"id":"MONDO:0018028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetrasomy 5p","equivalent_identifiers":["MONDO:0018028","orphanet:3309","UMLS:C0795813","SNOMEDCT:766755003","medgen:1638801"],"information_content":100.0}
{"id":"MONDO:0018029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital factor XIII deficiency","equivalent_identifiers":["MONDO:0018029","DOID:2211","orphanet:331","UMLS:C0015530","MEDDRA:10016083","NCIT:C131633","NCIT:C98941","SNOMEDCT:50189006","medgen:4639"],"information_content":90.9}
{"id":"MONDO:0018030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetrasomy 9p","equivalent_identifiers":["MONDO:0018030","orphanet:3310","UMLS:C0795832","MESH:C538027","SNOMEDCT:715530004","medgen:162876","icd11.foundation:1426428869"],"information_content":100.0}
{"id":"MONDO:0018031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous slack skin disease","equivalent_identifiers":["MONDO:0018031","orphanet:33111","UMLS:C0457002","NCIT:C35464","SNOMEDCT:277796003","medgen:99139"],"information_content":100.0}
{"id":"MONDO:0018034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thalidomide embryopathy","equivalent_identifiers":["MONDO:0018034","orphanet:3312","UMLS:C0432365","MEDDRA:10071249","MEDDRA:10075183","MEDDRA:10075184","NCIT:C99082","SNOMEDCT:36193003","medgen:98490","icd11.foundation:299085643"],"information_content":100.0}
{"id":"MONDO:0018039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"selective IgM deficiency","equivalent_identifiers":["MONDO:0018039","DOID:0050222","orphanet:331235","UMLS:C0154275","MEDDRA:10039916","NCIT:C26965","SNOMEDCT:190980000","medgen:57820"],"information_content":100.0}
{"id":"MONDO:0018043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thomas syndrome","equivalent_identifiers":["MONDO:0018043","orphanet:3316","UMLS:C2931225","MESH:C536514","SNOMEDCT:716740009","medgen:419362"],"information_content":100.0}
{"id":"MONDO:0018044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic hypersomnia","equivalent_identifiers":["MONDO:0018044","orphanet:33208","UMLS:C0033138","UMLS:C0751757","MESH:D020177","MEDDRA:10036694","MEDDRA:10075058","NCIT:C116343","NCIT:C84781","SNOMEDCT:36124002","SNOMEDCT:3731000119107","medgen:155626","icd11.foundation:631826564"],"information_content":92.8}
{"id":"MONDO:0018048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heparin-induced thrombocytopenia","equivalent_identifiers":["MONDO:0018048","orphanet:3325","UMLS:C0272285","MEDDRA:10051601","MEDDRA:10062506","NCIT:C99111","SNOMEDCT:73397007","medgen:124423","icd11.foundation:1143142333","HP:0011874"],"information_content":100.0}
{"id":"MONDO:0018050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tibial aplasia-ectrodactyly syndrome","equivalent_identifiers":["MONDO:0018050","orphanet:3329","UMLS:C4551989","SNOMEDCT:715531000","medgen:1639878"],"information_content":90.9}
{"id":"MONDO:0018051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jessner lymphocytic infiltration of the skin","equivalent_identifiers":["MONDO:0018051","orphanet:33314","UMLS:C0580181","MEDDRA:10063628","SNOMEDCT:19719003","medgen:663150","icd11.foundation:1624135677"],"information_content":100.0}
{"id":"MONDO:0018053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichothiodystrophy","equivalent_identifiers":["MONDO:0018053","DOID:0111866","OMIM.PS:601675","orphanet:33364","UMLS:C1955934","MESH:D054463","MEDDRA:10044628","NCIT:C4924","SNOMEDCT:723551003","medgen:363064","icd11.foundation:1366758649"],"information_content":83.6}
{"id":"MONDO:0018054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial atrial fibrillation","equivalent_identifiers":["MONDO:0018054","DOID:0050650","OMIM.PS:608583","orphanet:334","UMLS:C3468561","MEDDRA:10088317","SNOMEDCT:715395008","medgen:894635","icd11.foundation:45855978"],"information_content":80.6}
{"id":"MONDO:0018055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pediatric hepatocellular carcinoma","equivalent_identifiers":["MONDO:0018055","DOID:0070322","orphanet:33402","UMLS:C0279606","NCIT:C7955","SNOMEDCT:1208349005","medgen:75999"],"information_content":87.2}
{"id":"MONDO:0018056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bullous lichen planus","equivalent_identifiers":["MONDO:0018056","orphanet:33408","UMLS:C0023648","MEDDRA:10056960","NCIT:C34778","SNOMEDCT:6111009","medgen:9755","icd11.foundation:606709958"],"information_content":100.0}
{"id":"MONDO:0018058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tracheal agenesis","equivalent_identifiers":["MONDO:0018058","orphanet:3346","UMLS:C1261567","MESH:C536975","NCIT:C35376","SNOMEDCT:1003555002","SNOMEDCT:3987009","medgen:266059"],"information_content":100.0}
{"id":"MONDO:0018059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meningococcal meningitis","equivalent_identifiers":["MONDO:0018059","DOID:0080176","orphanet:33475","EFO:1001040","UMLS:C0007813","UMLS:C0025294","MESH:D008585","MEDDRA:10027249","MEDDRA:10027276","MEDDRA:10028910","SNOMEDCT:192644005","medgen:6299","icd11.foundation:516585689","ICD10:A39.0","ICD9:036.0"],"information_content":100.0}
{"id":"MONDO:0018060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital fibrinogen deficiency","equivalent_identifiers":["MONDO:0018060","orphanet:335","UMLS:C2062367","medgen:412157","icd11.foundation:1452989457"],"information_content":89.4}
{"id":"MONDO:0018061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichodermodysplasia-dental alterations syndrome","equivalent_identifiers":["MONDO:0018061","orphanet:3353","UMLS:C2931485","MESH:C537402","SNOMEDCT:763620003","medgen:419092"],"information_content":100.0}
{"id":"MONDO:0018063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular non-suppurative panniculitis","equivalent_identifiers":["MONDO:0018063","DOID:1525","orphanet:33577","EFO:1000742","UMLS:C0030328","MESH:D010201","MEDDRA:10047883","NCIT:C197537","SNOMEDCT:33760009","medgen:10559","ICD10:M35.6"],"information_content":100.0}
{"id":"MONDO:0018065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated trigonocephaly","equivalent_identifiers":["MONDO:0018065","OMIM.PS:190440","orphanet:3366"],"information_content":92.8}
{"id":"MONDO:0018066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy X","equivalent_identifiers":["MONDO:0018066","orphanet:3375","UMLS:C0221033","MESH:C535318","MEDDRA:10076910","NCIT:C129718","SNOMEDCT:35111009","medgen:113140","icd11.foundation:423644907"],"information_content":100.0}
{"id":"MONDO:0018067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triploidy","equivalent_identifiers":["MONDO:0018067","orphanet:3376","UMLS:C0333693","MESH:D057885","MEDDRA:10089702","NCIT:C85204","SNOMEDCT:14847005","SNOMEDCT:66651005","medgen:90711","icd11.foundation:1900317965"],"information_content":100.0}
{"id":"MONDO:0018068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 13","equivalent_identifiers":["MONDO:0018068","DOID:11665","orphanet:3378","UMLS:C0152095","UMLS:C4319808","MESH:C536305","MESH:D000073839","MEDDRA:10034115","MEDDRA:10044686","NCIT:C101223","SNOMEDCT:21111006","medgen:56261","icd11.foundation:1435958084","ICD10:Q91.7","ICD9:758.1"],"information_content":92.8}
{"id":"MONDO:0018069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal trisomy 17q","equivalent_identifiers":["MONDO:0018069","orphanet:3379","UMLS:C4707663","SNOMEDCT:766051001","medgen:1635674"],"information_content":100.0}
{"id":"MONDO:0018071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trisomy 18","equivalent_identifiers":["MONDO:0018071","DOID:1085","orphanet:3380","UMLS:C4317091","MESH:C580500","MESH:D000073842","MEDDRA:10053884","SNOMEDCT:51500006","medgen:1384417","icd11.foundation:1505179968","ICD9:758.2"],"information_content":92.8}
{"id":"MONDO:0018072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent truncus arteriosus","equivalent_identifiers":["MONDO:0018072","orphanet:3384","UMLS:C0041206","UMLS:C0041207","UMLS:C4020867","MESH:D014339","MEDDRA:10044703","MEDDRA:10059207","NCIT:C98880","SNOMEDCT:58140002","SNOMEDCT:61959006","SNOMEDCT:787779000","medgen:52867","icd11.foundation:1832500366","ICD10:Q20.0","HP:0001660"],"information_content":86.3}
{"id":"MONDO:0018075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neural tube defect","equivalent_identifiers":["MONDO:0018075","DOID:0080074","orphanet:3388","UMLS:C0027794","MESH:D009436","MEDDRA:10052046","NCIT:C84923","SNOMEDCT:253098009","medgen:18009","HP:0045005"],"information_content":75.3}
{"id":"MONDO:0018076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tuberculosis","equivalent_identifiers":["MONDO:0018076","DOID:399","orphanet:3389","UMLS:C0041296","MESH:D014376","MEDDRA:10021868","MEDDRA:10021870","MEDDRA:10043148","MEDDRA:10044755","MEDDRA:10044756","MEDDRA:10044766","NCIT:C3423","SNOMEDCT:371569005","SNOMEDCT:373576009","SNOMEDCT:56717001","medgen:22513","icd11.foundation:2072728114"],"information_content":73.2}
{"id":"MONDO:0018077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tularemia","equivalent_identifiers":["MONDO:0018077","DOID:2123","orphanet:3392","EFO:1001444","UMLS:C0041351","MESH:D014406","MEDDRA:10017330","MEDDRA:10045146","MEDDRA:10045147","MEDDRA:10046199","MEDDRA:10060438","NCIT:C85208","SNOMEDCT:19265001","medgen:22520"],"information_content":87.2}
{"id":"MONDO:0018078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"soft tissue sarcoma","equivalent_identifiers":["MONDO:0018078","orphanet:3394","EFO:1001968","UMLS:C4551687","UMLS:CN204398","MEDDRA:10075333","MEDDRA:10082652","NCIT:C9306","SNOMEDCT:424952003","medgen:1642116","HP:0030448"],"information_content":56.7}
{"id":"MONDO:0018081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hantavirosis","equivalent_identifiers":["MONDO:0018081","orphanet:340","EFO:0007299","UMLS:C0019101","UMLS:C2930957","MESH:C535630","MESH:D006480","MEDDRA:10019015","MEDDRA:10019142","MEDDRA:10019606","MEDDRA:10023484","MEDDRA:10055301","MEDDRA:10062539","MEDDRA:10075015","MEDDRA:10075020","SNOMEDCT:364756009","SNOMEDCT:716864001","medgen:42408","icd11.foundation:1059069619"],"information_content":100.0}
{"id":"MONDO:0018082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aorto-ventricular tunnel","equivalent_identifiers":["MONDO:0018082","orphanet:3400","UMLS:C4023262","MESH:D000082903","medgen:868852","HP:0011627"],"information_content":92.8}
{"id":"MONDO:0018084","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Uhl anomaly","equivalent_identifiers":["MONDO:0018084","orphanet:3403","UMLS:C0265857","MESH:C536932","MEDDRA:10048951","SNOMEDCT:2829000","medgen:78576","HP:0011724"],"information_content":100.0}
{"id":"MONDO:0018085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"umbilical cord ulceration-intestinal atresia syndrome","equivalent_identifiers":["MONDO:0018085","orphanet:3405","UMLS:C2931371","MESH:C536938","medgen:419062"],"information_content":100.0}
{"id":"MONDO:0018086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulerythema ophryogenesis","equivalent_identifiers":["MONDO:0018086","orphanet:3406","UMLS:C5700076","medgen:1813086"],"information_content":100.0}
{"id":"MONDO:0018088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial Mediterranean fever","equivalent_identifiers":["MONDO:0018088","DOID:2987","orphanet:342","UMLS:C0031069","MESH:D010505","MEDDRA:10016207","MEDDRA:10016211","NCIT:C84707","SNOMEDCT:12579009","medgen:45811","icd11.foundation:1373335705","ICD9:277.31"],"information_content":92.8}
{"id":"MONDO:0018089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"double outlet right ventricle","equivalent_identifiers":["MONDO:0018089","DOID:6406","orphanet:3426","UMLS:C0013069","UMLS:C3257801","MESH:D004310","MEDDRA:10013611","NCIT:C98916","SNOMEDCT:204299009","SNOMEDCT:7484005","medgen:41649","icd11.foundation:141717788","ICD10:Q20.1","ICD9:745.11","HP:0001719"],"information_content":85.5}
{"id":"MONDO:0018090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"double outlet left ventricle","equivalent_identifiers":["MONDO:0018090","orphanet:3427","UMLS:C0265809","MEDDRA:10080133","SNOMEDCT:7368005","medgen:120558","icd11.foundation:2094997989","ICD10:Q20.2","HP:0011581"],"information_content":100.0}
{"id":"MONDO:0018091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-brachydactyly-kyphoscoliosis syndrome","equivalent_identifiers":["MONDO:0018091","orphanet:3433","UMLS:C2931177","MESH:C536349","SNOMEDCT:719378009","medgen:419731"],"information_content":100.0}
{"id":"MONDO:0018092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Vogt-Koyanagi-Harada disease","equivalent_identifiers":["MONDO:0018092","DOID:12297","orphanet:3437","UMLS:C0042170","MESH:D014607","MEDDRA:10019155","MEDDRA:10047679","MEDDRA:10047680","MEDDRA:10082001","NCIT:C85218","SNOMEDCT:193497004","medgen:22599","ICD10:H20.82","ICD9:364.24"],"information_content":100.0}
{"id":"MONDO:0018094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome","equivalent_identifiers":["MONDO:0018094","DOID:9258","OMIM.PS:193500","orphanet:3440","UMLS:C3266898","MESH:D014849","MEDDRA:10069203","NCIT:C85222","SNOMEDCT:47434006","SNOMEDCT:715952000","medgen:473809","icd11.foundation:304883627"],"information_content":82.6}
{"id":"MONDO:0018095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weaver-Williams syndrome","equivalent_identifiers":["MONDO:0018095","orphanet:3448","UMLS:C0796198","SNOMEDCT:726670008","medgen:1392915"],"information_content":100.0}
{"id":"MONDO:0018096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Weill-Marchesani syndrome","equivalent_identifiers":["MONDO:0018096","DOID:0050475","OMIM.PS:277600","orphanet:3449","UMLS:C0265313","MESH:D056846","MEDDRA:10064963","NCIT:C85226","SNOMEDCT:2884008","medgen:82705"],"information_content":89.4}
{"id":"MONDO:0018097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"West syndrome","equivalent_identifiers":["MONDO:0018097","DOID:0050562","DOID:2481","orphanet:3451","EFO:1000643","UMLS:C0037769","UMLS:C1527366","MESH:D013036","MEDDRA:10021750","MEDDRA:10039371","MEDDRA:10058893","NCIT:C84788","SNOMEDCT:1217008005","SNOMEDCT:28055006","medgen:11519","icd11.foundation:1023597213","HP:0011097"],"information_content":85.5}
{"id":"MONDO:0018100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypomagnesemia","equivalent_identifiers":["MONDO:0018100","DOID:0060879","OMIM.PS:602014","UMLS:C0151723","UMLS:C4049202","MEDDRA:10021027","MEDDRA:10021028","MEDDRA:10076626","MEDDRA:10076629","NCIT:C123263","NCIT:C37975","SNOMEDCT:190855004","SNOMEDCT:80710001","medgen:57481","ICD10:E83.4","HP:0002917"],"information_content":80.2}
{"id":"MONDO:0018102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal dystrophy","equivalent_identifiers":["MONDO:0018102","DOID:2566","orphanet:34533","UMLS:C0010035","UMLS:C0010036","MESH:D003317","MEDDRA:10011005","MEDDRA:10019868","NCIT:C34512","NCIT:C34513","SNOMEDCT:5587004","SNOMEDCT:77797009","medgen:3619","icd11.foundation:1291475891","ICD9:371.5","HP:0001131"],"information_content":73.2}
{"id":"MONDO:0018103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Quinquaud's folliculitis decalvans","equivalent_identifiers":["MONDO:0018103","orphanet:346","UMLS:C2608043","MEDDRA:10063921","SNOMEDCT:53593008","medgen:750617","icd11.foundation:1454811046"],"information_content":100.0}
{"id":"MONDO:0018105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolfram syndrome","equivalent_identifiers":["MONDO:0018105","DOID:10632","orphanet:3463","UMLS:C0043207","MESH:D014929","MEDDRA:10078338","MEDDRA:10078339","NCIT:C35133","SNOMEDCT:70694009","medgen:21923","icd11.foundation:151381747"],"information_content":90.9}
{"id":"MONDO:0018106","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xanthinuria","equivalent_identifiers":["MONDO:0018106","DOID:0060236","OMIM.PS:278300","orphanet:3467","UMLS:C5779508","SNOMEDCT:54627004","medgen:1830243","ICD10:E79.8"],"information_content":92.8}
{"id":"MONDO:0018108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic disseminated cytomegalovirus infection","equivalent_identifiers":["MONDO:0018108","orphanet:35062","UMLS:C5680152","medgen:1826159"],"information_content":100.0}
{"id":"MONDO:0018115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermal nevus syndrome","equivalent_identifiers":["MONDO:0018115","orphanet:35125","UMLS:C5848385","SNOMEDCT:239112008","medgen:1847175"],"information_content":100.0}
{"id":"MONDO:0018116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"galactosemia","equivalent_identifiers":["MONDO:0018116","DOID:9870","OMIM.PS:230400","orphanet:352","UMLS:C0016952","UMLS:C4023071","MESH:D005693","MEDDRA:10017604","MEDDRA:10017605","MEDDRA:10017610","NCIT:C84723","SNOMEDCT:190745006","medgen:8943","ICD10:E74.21","ICD9:271.1","HP:0012024"],"information_content":87.2}
{"id":"MONDO:0018123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-obesity-brain malformations-facial dysmorphism syndrome","equivalent_identifiers":["MONDO:0018123","orphanet:352530","UMLS:C4706414","SNOMEDCT:763350002","medgen:1644787"],"information_content":100.0}
{"id":"MONDO:0018124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oncogenic osteomalacia","equivalent_identifiers":["MONDO:0018124","orphanet:352540","UMLS:C1274103","MESH:C537751","MEDDRA:10077950","NCIT:C67235","SNOMEDCT:392559009","medgen:226893"],"information_content":88.2}
{"id":"MONDO:0018125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal epilepsy-intellectual disability-cerebro-cerebellar malformation","equivalent_identifiers":["MONDO:0018125","orphanet:352587","UMLS:C4707306","SNOMEDCT:765089003","medgen:1640999"],"information_content":100.0}
{"id":"MONDO:0018126","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive myoclonic epilepsy with dystonia","equivalent_identifiers":["MONDO:0018126","orphanet:352596","UMLS:C4706413","SNOMEDCT:763349002","medgen:1642042"],"information_content":100.0}
{"id":"MONDO:0018129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cerebellar ataxia with late-onset spasticity","equivalent_identifiers":["MONDO:0018129","orphanet:352641","UMLS:C4706412","SNOMEDCT:763348005","medgen:1635411"],"information_content":100.0}
{"id":"MONDO:0018130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain dopamine-serotonin vesicular transport disease","equivalent_identifiers":["MONDO:0018130","DOID:0070490","OMIM:618049","orphanet:352649","UMLS:C4303546","UMLS:C4747991","SNOMEDCT:717942003","medgen:929215"],"information_content":100.0}
{"id":"MONDO:0018131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion","equivalent_identifiers":["MONDO:0018131","orphanet:352665","UMLS:C5679925","medgen:1842292"],"information_content":100.0}
{"id":"MONDO:0018133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"attenuated Chédiak-Higashi syndrome","equivalent_identifiers":["MONDO:0018133","orphanet:352723","UMLS:C4304022","SNOMEDCT:720520009","medgen:929691"],"information_content":100.0}
{"id":"MONDO:0018135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 1","equivalent_identifiers":["MONDO:0018135","orphanet:352731","UMLS:C0268494","MESH:C537728","SNOMEDCT:765146000","medgen:82809"],"information_content":89.4}
{"id":"MONDO:0018136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MP OCA type 1","equivalent_identifiers":["MONDO:0018136","orphanet:352734","UMLS:C0342681","UMLS:C5679923","SNOMEDCT:237919007","medgen:1842241"],"information_content":100.0}
{"id":"MONDO:0018137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"temperature-sensitive oculocutaneous albinism type 1","equivalent_identifiers":["MONDO:0018137","orphanet:352737","UMLS:C1847132","MESH:C564645","medgen:337736"],"information_content":100.0}
{"id":"MONDO:0018141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate carboxylase deficiency, infantile form","equivalent_identifiers":["MONDO:0018141","orphanet:353308","UMLS:C5679928","medgen:1842180"],"information_content":100.0}
{"id":"MONDO:0018142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate carboxylase deficiency, severe neonatal type","equivalent_identifiers":["MONDO:0018142","orphanet:353314","UMLS:C5679929","medgen:1842956"],"information_content":100.0}
{"id":"MONDO:0018143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate carboxylase deficiency, benign type","equivalent_identifiers":["MONDO:0018143","orphanet:353320","UMLS:C5679927","medgen:1842785"],"information_content":100.0}
{"id":"MONDO:0018149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GM1 gangliosidosis","equivalent_identifiers":["MONDO:0018149","DOID:3322","orphanet:354","UMLS:C0085131","UMLS:C1854788","UMLS:C1856559","UMLS:C2718068","MESH:D016537","MEDDRA:10083308","NCIT:C84739","SNOMEDCT:124465002","SNOMEDCT:238025006","medgen:43107","icd11.foundation:401105928","ICD10:E75.19","HP:0008166"],"information_content":90.9}
{"id":"MONDO:0018150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gaucher disease","equivalent_identifiers":["MONDO:0018150","DOID:1926","orphanet:355","UMLS:C0017205","MESH:D005776","MEDDRA:10018048","MEDDRA:10018446","NCIT:C61268","SNOMEDCT:180485001","SNOMEDCT:190794006","medgen:42164","icd11.foundation:1923566939","ICD10:E75.22"],"information_content":88.2}
{"id":"MONDO:0018153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Erdheim-Chester disease","equivalent_identifiers":["MONDO:0018153","DOID:4329","orphanet:35687","EFO:1000926","UMLS:C0878675","MESH:D031249","MEDDRA:10060801","NCIT:C53972","SNOMEDCT:699537002","SNOMEDCT:703711007","medgen:163902","icd11.foundation:1395439137","icd11.foundation:146718003"],"information_content":86.3}
{"id":"MONDO:0018154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Madelung deformity","equivalent_identifiers":["MONDO:0018154","UMLS:C0152441","MESH:C562398","MEDDRA:10007700","MEDDRA:10025427","SNOMEDCT:4530000","medgen:57537","icd11.foundation:1398663515","HP:0003067"],"information_content":92.8}
{"id":"MONDO:0018155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lateral sclerosis","equivalent_identifiers":["MONDO:0018155","DOID:230","orphanet:35689","UMLS:C0154682","MEDDRA:10036704","NCIT:C129933","SNOMEDCT:81211007","medgen:57591","icd11.foundation:1686688462","ICD10:G12.23","ICD9:335.24"],"information_content":92.8}
{"id":"MONDO:0018159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical hemolytic-uremic syndrome with DGKE deficiency","equivalent_identifiers":["MONDO:0018159","orphanet:357008","UMLS:C5679921","SNOMEDCT:1269225005","medgen:1826167"],"information_content":100.0}
{"id":"MONDO:0018161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-hereditary retinoblastoma","equivalent_identifiers":["MONDO:0018161","orphanet:357034","EFO:0005717","UMLS:C5680987","UMLS:CN204600","medgen:1842255"],"information_content":100.0}
{"id":"MONDO:0018163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cutis laxa type 2A","equivalent_identifiers":["MONDO:0018163","DOID:0070134","OMIM:219200","orphanet:357058","UMLS:C0268355","SNOMEDCT:784381008","medgen:82795"],"information_content":95.4}
{"id":"MONDO:0018166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oral submucous fibrosis","equivalent_identifiers":["MONDO:0018166","DOID:5773","orphanet:357154","EFO:1001818","UMLS:C0029171","UMLS:C0029172","MESH:D009914","MEDDRA:10031023","MEDDRA:10031025","MEDDRA:10056775","NCIT:C34866","SNOMEDCT:32883009","medgen:45213","icd11.foundation:1798376929","ICD10:K13.5","ICD9:528.8"],"information_content":100.0}
{"id":"MONDO:0018168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary non-essential cutis verticis gyrata","equivalent_identifiers":["MONDO:0018168","orphanet:357225","UMLS:C4755295","SNOMEDCT:778044004","medgen:1653253","icd11.foundation:129937701"],"information_content":100.0}
{"id":"MONDO:0018169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"morning glory syndrome","equivalent_identifiers":["MONDO:0018169","orphanet:35737","UMLS:C3554721","MEDDRA:10027974","medgen:767635","HP:0025514"],"information_content":100.0}
{"id":"MONDO:0018175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined deficiency of factor V and factor VIII","equivalent_identifiers":["MONDO:0018175","orphanet:35909","UMLS:C1856883","SNOMEDCT:715559004","medgen:384006","icd11.foundation:184219764"],"information_content":90.9}
{"id":"MONDO:0018177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glioblastoma","equivalent_identifiers":["MONDO:0018177","DOID:3068","orphanet:360","EFO:0000519","UMLS:C0017636","UMLS:C1621958","UMLS:CN227279","MESH:D005909","MEDDRA:10018336","MEDDRA:10018337","NCIT:C129295","NCIT:C3058","SNOMEDCT:1163375002","SNOMEDCT:393563007","SNOMEDCT:63634009","medgen:42228","HP:0012174"],"information_content":69.7}
{"id":"MONDO:0018178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal lymphangiectasia","equivalent_identifiers":["MONDO:0018178","orphanet:36204","UMLS:C0024215","MESH:D008201","MEDDRA:10025213","SNOMEDCT:197260007","medgen:9828","icd11.foundation:1255239964","HP:0002593"],"information_content":92.8}
{"id":"MONDO:0018182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bullous impetigo","equivalent_identifiers":["MONDO:0018182","orphanet:36237","UMLS:C0021100","UMLS:C1542647","MEDDRA:10006563","MEDDRA:10021532","SNOMEDCT:399183005","medgen:507838","icd11.foundation:1398484288"],"information_content":100.0}
{"id":"MONDO:0018183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"staphylococcal necrotizing pneumonia","equivalent_identifiers":["MONDO:0018183","orphanet:36238","UMLS:C4706659","SNOMEDCT:763888005","medgen:1637863"],"information_content":100.0}
{"id":"MONDO:0018189","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome","equivalent_identifiers":["MONDO:0018189","orphanet:363429","UMLS:C4706388","SNOMEDCT:763312008","medgen:1644588"],"information_content":92.8}
{"id":"MONDO:0018193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular teratoma","equivalent_identifiers":["MONDO:0018193","orphanet:363483","EFO:1000573","UMLS:C0238451","MESH:C562472","MEDDRA:10043278","MEDDRA:10043279","NCIT:C3877","SNOMEDCT:255106001","medgen:68669","HP:0100616"],"information_content":82.6}
{"id":"MONDO:0018197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome, hepatocerebrorenal form","equivalent_identifiers":["MONDO:0018197","orphanet:363534","UMLS:C5190602","SNOMEDCT:782771007","medgen:1674910"],"information_content":100.0}
{"id":"MONDO:0018198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute encephalopathy with biphasic seizures and late reduced diffusion","equivalent_identifiers":["MONDO:0018198","orphanet:363549","UMLS:C4707658","NCIT:C202017","SNOMEDCT:766044005","medgen:1645136"],"information_content":100.0}
{"id":"MONDO:0018199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"new-onset refractory status epilepticus","equivalent_identifiers":["MONDO:0018199","orphanet:363558","UMLS:C4749462","MEDDRA:10087465","SNOMEDCT:770758009","medgen:1657271"],"information_content":100.0}
{"id":"MONDO:0018203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LMNA-related cardiocutaneous progeria syndrome","equivalent_identifiers":["MONDO:0018203","orphanet:363618","UMLS:C4750858","SNOMEDCT:773426004","medgen:1667690"],"information_content":100.0}
{"id":"MONDO:0018204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"20q11.2 microduplication syndrome","equivalent_identifiers":["MONDO:0018204","orphanet:363659","UMLS:C4706257","SNOMEDCT:763061004","medgen:1639138"],"information_content":100.0}
{"id":"MONDO:0018205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 1q","equivalent_identifiers":["MONDO:0018205","orphanet:36367","UMLS:C4273897","SNOMEDCT:717633007","medgen:900126"],"information_content":100.0}
{"id":"MONDO:0018206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood-onset autosomal recessive myopathy with external ophthalmoplegia","equivalent_identifiers":["MONDO:0018206","orphanet:363677","UMLS:C5192594","SNOMEDCT:787172004","medgen:1673410"],"information_content":100.0}
{"id":"MONDO:0018209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alexander disease type I","equivalent_identifiers":["MONDO:0018209","orphanet:363717","UMLS:C5769581","SNOMEDCT:1259106002","medgen:1820954"],"information_content":100.0}
{"id":"MONDO:0018210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alexander disease type II","equivalent_identifiers":["MONDO:0018210","orphanet:363722","UMLS:C5679914","SNOMEDCT:1332388003","medgen:1842714"],"information_content":100.0}
{"id":"MONDO:0018213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory and autonomic neuropathy type 1","equivalent_identifiers":["MONDO:0018213","DOID:0070162","orphanet:36386","UMLS:C0020071","NCIT:C170433","SNOMEDCT:230553002","SNOMEDCT:397734008","medgen:5645","icd11.foundation:1989773046"],"information_content":87.2}
{"id":"MONDO:0018214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized epilepsy with febrile seizures plus","equivalent_identifiers":["MONDO:0018214","DOID:0060170","OMIM.PS:604233","orphanet:36387","UMLS:C3502809","MESH:C565808","NCIT:C122811","SNOMEDCT:699688008","medgen:503203","ICD10:G40.3"],"information_content":84.2}
{"id":"MONDO:0018216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome","equivalent_identifiers":["MONDO:0018216","DOID:0050880","orphanet:363958","MESH:C566476","SNOMEDCT:717338006"],"information_content":100.0}
{"id":"MONDO:0018217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Koolen-de Vries syndrome due to a point mutation","equivalent_identifiers":["MONDO:0018217","orphanet:363965","UMLS:C5680974","medgen:1843302"],"information_content":100.0}
{"id":"MONDO:0018218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cerebral atrophy","equivalent_identifiers":["MONDO:0018218","orphanet:363969","UMLS:C4755252","SNOMEDCT:776087007","medgen:1653890"],"information_content":100.0}
{"id":"MONDO:0018225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALK-positive large B-cell lymphoma","equivalent_identifiers":["MONDO:0018225","orphanet:364043","UMLS:C1333294","MEDDRA:10089865","NCIT:C7225","SNOMEDCT:450910000","SNOMEDCT:715950008","medgen:232429","icd11.foundation:2077559619"],"information_content":92.8}
{"id":"MONDO:0018226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile epileptic-dyskinetic encephalopathy","equivalent_identifiers":["MONDO:0018226","orphanet:364063","UMLS:C4552072","MESH:C567924","SNOMEDCT:771223000","medgen:1637882"],"information_content":100.0}
{"id":"MONDO:0018227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypocomplementemic urticarial vasculitis","equivalent_identifiers":["MONDO:0018227","orphanet:36412","UMLS:C0343206","SNOMEDCT:239945009","medgen:83360","icd11.foundation:629572966"],"information_content":100.0}
{"id":"MONDO:0018229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stevens-Johnson syndrome","equivalent_identifiers":["MONDO:0018229","DOID:0050426","OMIM:608579","orphanet:36426","EFO:0004276","UMLS:C0038325","UMLS:C1837818","UMLS:C1840548","UMLS:C2608081","UMLS:C3277286","MESH:D013262","MEDDRA:10006561","MEDDRA:10015209","MEDDRA:10015211","MEDDRA:10015219","MEDDRA:10042029","MEDDRA:10042030","MEDDRA:10042033","MEDDRA:10042849","NCIT:C79484","SNOMEDCT:73442001","medgen:20955","icd11.foundation:450167795","ICD10:L51.1","ICD9:695.13"],"information_content":100.0}
{"id":"MONDO:0018242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune hypoparathyroidism","equivalent_identifiers":["MONDO:0018242","orphanet:36913","UMLS:C0271865","MEDDRA:10090022","SNOMEDCT:75316000","medgen:488838","icd11.foundation:1790437089","HP:0011771"],"information_content":95.4}
{"id":"MONDO:0018243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-hyperkinetic movement-truncal ataxia syndrome","equivalent_identifiers":["MONDO:0018243","orphanet:369847","UMLS:C5192595","SNOMEDCT:787174003","medgen:1683856"],"information_content":95.4}
{"id":"MONDO:0018244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity due to SIM1 deficiency","equivalent_identifiers":["MONDO:0018244","orphanet:369873","UMLS:C5191050","SNOMEDCT:783719006","medgen:1680592"],"information_content":100.0}
{"id":"MONDO:0018245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2p21 microdeletion syndrome without cystinuria","equivalent_identifiers":["MONDO:0018245","orphanet:369881","UMLS:C4749458","SNOMEDCT:770754006","medgen:1666351"],"information_content":100.0}
{"id":"MONDO:0018247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CADDS","equivalent_identifiers":["MONDO:0018247","orphanet:369942"],"information_content":100.0}
{"id":"MONDO:0018248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-seizures-macrocephaly-obesity syndrome","equivalent_identifiers":["MONDO:0018248","orphanet:369950","UMLS:C4749455","SNOMEDCT:770750002","medgen:1650833"],"information_content":100.0}
{"id":"MONDO:0018250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse palmoplantar keratoderma with painful fissures","equivalent_identifiers":["MONDO:0018250","orphanet:369999","UMLS:C4755309","SNOMEDCT:778062008","medgen:1660049"],"information_content":100.0}
{"id":"MONDO:0018252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal palmoplantar keratoderma with joint keratoses","equivalent_identifiers":["MONDO:0018252","orphanet:370002","UMLS:C4755302","SNOMEDCT:778051008","medgen:1667811"],"information_content":100.0}
{"id":"MONDO:0018253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-facial dysmorphism-hand anomalies syndrome","equivalent_identifiers":["MONDO:0018253","orphanet:370010","UMLS:C4750848","SNOMEDCT:773416006","medgen:1655582"],"information_content":100.0}
{"id":"MONDO:0018254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, Isidor type","equivalent_identifiers":["MONDO:0018254","orphanet:370015","UMLS:C5190629","SNOMEDCT:782821004","medgen:1676518"],"information_content":100.0}
{"id":"MONDO:0018256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with t(8;16)(p11;p13) translocation","equivalent_identifiers":["MONDO:0018256","DOID:0070630","orphanet:370026","UMLS:C4511003","NCIT:C200421","SNOMEDCT:725390002","SNOMEDCT:725391003","medgen:1376688"],"information_content":95.4}
{"id":"MONDO:0018264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism type 6","equivalent_identifiers":["MONDO:0018264","DOID:0080614","OMIM:113750","orphanet:370097","UMLS:C2676042","UMLS:C3805375","MESH:C567300","SNOMEDCT:722058005","medgen:811705"],"information_content":100.0}
{"id":"MONDO:0018266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia - telangiectasia variant","equivalent_identifiers":["MONDO:0018266","orphanet:370109","UMLS:C1876175","MESH:C566865","SNOMEDCT:763065008","medgen:406286"],"information_content":100.0}
{"id":"MONDO:0018270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extraskeletal Ewing sarcoma","equivalent_identifiers":["MONDO:0018270","DOID:4232","orphanet:370334","UMLS:C0279980","MEDDRA:10015759","MEDDRA:10015760","MEDDRA:10015763","NCIT:C7135","medgen:76053"],"information_content":85.5}
{"id":"MONDO:0018271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral primitive neuroectodermal tumor","equivalent_identifiers":["MONDO:0018271","orphanet:370348","UMLS:C0206093","UMLS:C0684337","MESH:D018241","MEDDRA:10056672","NCIT:C9341","SNOMEDCT:253096008","SNOMEDCT:73676002","medgen:151926","HP:0030061"],"information_content":76.5}
{"id":"MONDO:0018273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"XYLT1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0018273","orphanet:370930","UMLS:C4750849","SNOMEDCT:773418007","medgen:1659170"],"information_content":100.0}
{"id":"MONDO:0018274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GM3 synthase deficiency","equivalent_identifiers":["MONDO:0018274","DOID:0060470","OMIM:609056","orphanet:370933","UMLS:C1836824","MESH:C563799","SNOMEDCT:722762005","medgen:323005"],"information_content":100.0}
{"id":"MONDO:0018278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital muscular dystrophy with intellectual disability","equivalent_identifiers":["MONDO:0018278","orphanet:370968","UMLS:C5190846","SNOMEDCT:783174004","medgen:1683413"],"information_content":100.0}
{"id":"MONDO:0018280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscle-eye-brain disease with bilateral multicystic leucodystrophy","equivalent_identifiers":["MONDO:0018280","orphanet:370997","UMLS:C5191414","SNOMEDCT:785298001","medgen:1675257"],"information_content":100.0}
{"id":"MONDO:0018298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multicentric osteolysis-nodulosis-arthropathy spectrum","equivalent_identifiers":["MONDO:0018298","orphanet:371428","UMLS:C1850155","MESH:C536051","SNOMEDCT:716868003","medgen:342428"],"information_content":92.8}
{"id":"MONDO:0018301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interstitial cystitis","equivalent_identifiers":["MONDO:0018301","DOID:13949","DOID:1678","orphanet:37202","EFO:0008507","EFO:1000869","UMLS:C0282488","UMLS:C0600040","MESH:D018856","MEDDRA:10008927","MEDDRA:10008928","MEDDRA:10011796","MEDDRA:10011801","NCIT:C27189","SNOMEDCT:111409009","SNOMEDCT:197834003","medgen:129176","icd11.foundation:1650709285","ICD10:N30.1","ICD9:595.1"],"information_content":100.0}
{"id":"MONDO:0018304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schnitzler syndrome","equivalent_identifiers":["MONDO:0018304","DOID:4371","orphanet:37748","EFO:1001165","UMLS:C0524988","MESH:D019873","MEDDRA:10062908","SNOMEDCT:402415001","medgen:141892","icd11.foundation:1867840545"],"information_content":100.0}
{"id":"MONDO:0018305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic granulomatous disease","equivalent_identifiers":["MONDO:0018305","DOID:3265","OMIM.PS:306400","orphanet:379","UMLS:C0018203","MESH:D006105","MEDDRA:10008906","NCIT:C26788","SNOMEDCT:387759001","medgen:5377","icd11.foundation:1329764681","ICD10:D71"],"information_content":86.3}
{"id":"MONDO:0018306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Griscelli syndrome","equivalent_identifiers":["MONDO:0018306","DOID:0060831","OMIM.PS:214450","orphanet:381","UMLS:C0398794","MEDDRA:10081517","SNOMEDCT:37548006","medgen:585090"],"information_content":90.9}
{"id":"MONDO:0018309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirschsprung disease","equivalent_identifiers":["MONDO:0018309","DOID:10487","OMIM.PS:142623","orphanet:388","UMLS:C0019569","MESH:D006627","MEDDRA:10001472","MEDDRA:10010539","MEDDRA:10020109","MEDDRA:10027113","MEDDRA:10034276","MEDDRA:10078849","NCIT:C34700","SNOMEDCT:204739008","medgen:5559","icd11.foundation:1772690306","ICD10:Q43.1","HP:0002251"],"information_content":83.6}
{"id":"MONDO:0018310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Langerhans cell histiocytosis","equivalent_identifiers":["MONDO:0018310","DOID:2571","OMIM:604856","orphanet:389","EFO:1000318","UMLS:C0019621","UMLS:C0432547","UMLS:C0432548","UMLS:C0432549","UMLS:C0432550","UMLS:C0432551","UMLS:C0432552","UMLS:C0432553","UMLS:C0432554","UMLS:C5779774","MESH:C538636","MESH:D006646","MEDDRA:10023688","MEDDRA:10024266","MEDDRA:10024267","MEDDRA:10024268","MEDDRA:10024269","MEDDRA:10024270","MEDDRA:10024271","MEDDRA:10024272","MEDDRA:10024273","MEDDRA:10053133","MEDDRA:10069698","NCIT:C3107","SNOMEDCT:110450007","SNOMEDCT:65399007","medgen:5568","icd11.foundation:1388720498","icd11.foundation:216625985","ICD10:C96.0","ICD10:C96.6","ICD9:202.5"],"information_content":80.2}
{"id":"MONDO:0018312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"histoplasmosis","equivalent_identifiers":["MONDO:0018312","DOID:1731","orphanet:390","EFO:0007310","UMLS:C0019655","MESH:D006660","MEDDRA:10020140","MEDDRA:10020141","MEDDRA:10020147","MEDDRA:10020151","MEDDRA:10021816","NCIT:C77201","SNOMEDCT:12962009","medgen:42468","icd11.foundation:1303003466","icd11.foundation:1553838370","ICD10:B39","ICD9:115","HP:0032256"],"information_content":88.2}
{"id":"MONDO:0018314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile-onset mesial temporal lobe epilepsy with severe cognitive regression","equivalent_identifiers":["MONDO:0018314","orphanet:391316","UMLS:C4750853","SNOMEDCT:773421009","medgen:1654958"],"information_content":100.0}
{"id":"MONDO:0018315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked osteoporosis with fractures","equivalent_identifiers":["MONDO:0018315","orphanet:391330","UMLS:C5190610","SNOMEDCT:782785002","medgen:1674557"],"information_content":100.0}
{"id":"MONDO:0018316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatal post-viral neurodegenerative disorder","equivalent_identifiers":["MONDO:0018316","orphanet:391343","UMLS:C4751597","SNOMEDCT:774206008","medgen:1657472"],"information_content":100.0}
{"id":"MONDO:0018317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth retardation-mild developmental delay-chronic hepatitis syndrome","equivalent_identifiers":["MONDO:0018317","orphanet:391366","UMLS:C4751595","SNOMEDCT:774204006","medgen:1654119"],"information_content":100.0}
{"id":"MONDO:0018320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary microcephaly-mild intellectual disability-young-onset diabetes syndrome","equivalent_identifiers":["MONDO:0018320","orphanet:391408","UMLS:C5190597","SNOMEDCT:782755007","medgen:1675765"],"information_content":100.0}
{"id":"MONDO:0018321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical juvenile parkinsonism","equivalent_identifiers":["MONDO:0018321","orphanet:391411","UMLS:C4510873","SNOMEDCT:725146001","medgen:1380105"],"information_content":95.4}
{"id":"MONDO:0018322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HSD10 disease, infantile type","equivalent_identifiers":["MONDO:0018322","orphanet:391428","UMLS:C5680025","medgen:1843150"],"information_content":100.0}
{"id":"MONDO:0018323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HSD10 disease, neonatal type","equivalent_identifiers":["MONDO:0018323","orphanet:391457","UMLS:C5680026","medgen:1842355"],"information_content":100.0}
{"id":"MONDO:0018324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset myasthenia gravis","equivalent_identifiers":["MONDO:0018324","orphanet:391490","EFO:1001490","UMLS:C5680024","medgen:1843050"],"information_content":100.0}
{"id":"MONDO:0018328","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"homozygous familial hypercholesterolemia","equivalent_identifiers":["MONDO:0018328","orphanet:391665","UMLS:C0342881","MESH:D000090542","MEDDRA:10057080","MEDDRA:10057100","SNOMEDCT:238078005","medgen:575266"],"information_content":100.0}
{"id":"MONDO:0018332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","equivalent_identifiers":["MONDO:0018332","orphanet:394529","UMLS:C5680029","medgen:1842925"],"information_content":100.0}
{"id":"MONDO:0018333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple acyl-CoA dehydrogenase deficiency, mild type","equivalent_identifiers":["MONDO:0018333","orphanet:394532","UMLS:C5680028","medgen:1843108"],"information_content":100.0}
{"id":"MONDO:0018334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic hiccup","equivalent_identifiers":["MONDO:0018334","orphanet:396","UMLS:C0744898","SNOMEDCT:716771000","medgen:900733","icd11.foundation:1300687612"],"information_content":100.0}
{"id":"MONDO:0018338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"activated PI3K-delta syndrome","equivalent_identifiers":["MONDO:0018338","orphanet:397596","MESH:C585640","SNOMEDCT:711480000"],"information_content":92.8}
{"id":"MONDO:0018339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PrP systemic amyloidosis","equivalent_identifiers":["MONDO:0018339","orphanet:397606","UMLS:C4518776","SNOMEDCT:733422008","medgen:1377371"],"information_content":100.0}
{"id":"MONDO:0018342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome with Jeune asphyxiating thoracic dystrophy","equivalent_identifiers":["MONDO:0018342","orphanet:397715","UMLS:C4518774","SNOMEDCT:733418003","medgen:1371401"],"information_content":92.8}
{"id":"MONDO:0018343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periodic paralysis with later-onset distal motor neuropathy","equivalent_identifiers":["MONDO:0018343","orphanet:397750","UMLS:C4751573","SNOMEDCT:774154008","medgen:1670241"],"information_content":100.0}
{"id":"MONDO:0018346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ferro-cerebro-cutaneous syndrome","equivalent_identifiers":["MONDO:0018346","OMIM:301072","orphanet:397922","UMLS:C4751570","SNOMEDCT:774151000","medgen:1658844"],"information_content":100.0}
{"id":"MONDO:0018349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MAN1B1-congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0018349","orphanet:397941","UMLS:C4518783","SNOMEDCT:733450008","medgen:1375785"],"information_content":100.0}
{"id":"MONDO:0018353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"refractory celiac disease","equivalent_identifiers":["MONDO:0018353","orphanet:398063","EFO:0009266","UMLS:C4749333","MEDDRA:10090059","NCIT:C200033","SNOMEDCT:770593004","medgen:1670595"],"information_content":83.6}
{"id":"MONDO:0018355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SIM1-related Prader-Willi-like syndrome","equivalent_identifiers":["MONDO:0018355","orphanet:398079","UMLS:C5680040","SNOMEDCT:1229943004","medgen:1802084"],"information_content":100.0}
{"id":"MONDO:0018360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal lupus erythematosus","equivalent_identifiers":["MONDO:0018360","orphanet:398124","EFO:0004537","UMLS:C0409979","MESH:C536397","MEDDRA:10057887","NCIT:C99236","SNOMEDCT:95609003","medgen:98372","icd11.foundation:213855225"],"information_content":100.0}
{"id":"MONDO:0018362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent idiopathic facial pain","equivalent_identifiers":["MONDO:0018362","orphanet:398147","UMLS:C5191641","SNOMEDCT:785723001","medgen:1673850","icd11.foundation:1799118131"],"information_content":100.0}
{"id":"MONDO:0018363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal facial dermal dysplasia","equivalent_identifiers":["MONDO:0018363","OMIM.PS:136500","orphanet:398166","UMLS:C2936827","UMLS:C4020754","UMLS:C4023409","MESH:C537068","MESH:D000090303","SNOMEDCT:789156003","medgen:445408","icd11.foundation:1200544726","HP:0011336"],"information_content":89.4}
{"id":"MONDO:0018369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immature ovarian teratoma","equivalent_identifiers":["MONDO:0018369","DOID:6331","orphanet:398987","UMLS:C0346182","UMLS:C4724097","NCIT:C39995","NCIT:C8111","SNOMEDCT:254871000","medgen:138044","icd11.foundation:551209361"],"information_content":92.8}
{"id":"MONDO:0018370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"KLHL9-related early-onset distal myopathy","equivalent_identifiers":["MONDO:0018370","orphanet:399081","UMLS:C4706574","SNOMEDCT:763776004","medgen:1647584"],"information_content":100.0}
{"id":"MONDO:0018371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nebulin-related early-onset distal myopathy","equivalent_identifiers":["MONDO:0018371","orphanet:399103","UMLS:C5190827","SNOMEDCT:783148005","medgen:1677937"],"information_content":100.0}
{"id":"MONDO:0018376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary non-traumatic avascular necrosis","equivalent_identifiers":["MONDO:0018376","orphanet:399180","UMLS:C5192430","SNOMEDCT:787092009","medgen:1684106"],"information_content":100.0}
{"id":"MONDO:0018381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteochondrosis","equivalent_identifiers":["MONDO:0018381","DOID:8125","orphanet:399319","EFO:0008577","UMLS:C0029429","UMLS:C0158445","UMLS:C0729346","MESH:D055034","MEDDRA:10015074","MEDDRA:10015075","MEDDRA:10023259","MEDDRA:10031233","MEDDRA:10031234","NCIT:C34879","NCIT:C35313","SNOMEDCT:19579005","medgen:18216","icd11.foundation:1446309782","ICD10:M92","ICD10:M93.9","ICD9:732.6","HP:0040188"],"information_content":83.1}
{"id":"MONDO:0018382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiphysiolysis of the hip","equivalent_identifiers":["MONDO:0018382","OMIM:182260","orphanet:399329","UMLS:C0149887","MESH:D060048","MEDDRA:10041027","MEDDRA:10041028","MEDDRA:10057733","NCIT:C118384","SNOMEDCT:26460006","medgen:57704","HP:0006461"],"information_content":100.0}
{"id":"MONDO:0018394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"male infertility with teratozoospermia due to single gene mutation","equivalent_identifiers":["MONDO:0018394","orphanet:399808","UMLS:C4706677","SNOMEDCT:764096006","medgen:1643966"],"information_content":88.2}
{"id":"MONDO:0018408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystic echinococcosis","equivalent_identifiers":["MONDO:0018408","DOID:1495","orphanet:400","UMLS:C4553297","MEDDRA:10020479","SNOMEDCT:721822004","medgen:1639841","ICD10:B67.4","ICD9:122.4"],"information_content":100.0}
{"id":"MONDO:0018416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 59","equivalent_identifiers":["MONDO:0018416","orphanet:401795","UMLS:C4750857","SNOMEDCT:773425000","medgen:1669596"],"information_content":100.0}
{"id":"MONDO:0018417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 60","equivalent_identifiers":["MONDO:0018417","orphanet:401800","UMLS:C5190589","SNOMEDCT:782746009","medgen:1683240"],"information_content":100.0}
{"id":"MONDO:0018418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 66","equivalent_identifiers":["MONDO:0018418","orphanet:401815","UMLS:C5190590","SNOMEDCT:782747000","medgen:1675102"],"information_content":100.0}
{"id":"MONDO:0018419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 67","equivalent_identifiers":["MONDO:0018419","orphanet:401820","UMLS:C4707829","SNOMEDCT:766767001","medgen:1644708"],"information_content":100.0}
{"id":"MONDO:0018421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 69","equivalent_identifiers":["MONDO:0018421","orphanet:401830","UMLS:C5190577","SNOMEDCT:782725000","medgen:1679277"],"information_content":100.0}
{"id":"MONDO:0018422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 70","equivalent_identifiers":["MONDO:0018422","orphanet:401835","UMLS:C4749431","SNOMEDCT:770724001","medgen:1655287"],"information_content":100.0}
{"id":"MONDO:0018423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive spastic paraplegia type 71","equivalent_identifiers":["MONDO:0018423","orphanet:401840","UMLS:C5190578","SNOMEDCT:782726004","medgen:1680976"],"information_content":100.0}
{"id":"MONDO:0018425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Huntington disease-like syndrome due to C9ORF72 expansions","equivalent_identifiers":["MONDO:0018425","orphanet:401901","UMLS:C5190586","SNOMEDCT:782743001","medgen:1676144"],"information_content":100.0}
{"id":"MONDO:0018428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"9q31.1q31.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0018428","orphanet:401923","UMLS:C4750910","SNOMEDCT:773493002","medgen:1665719"],"information_content":100.0}
{"id":"MONDO:0018429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"14q24.1q24.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0018429","orphanet:401935","UMLS:C4750911","SNOMEDCT:773494008","medgen:1668571"],"information_content":100.0}
{"id":"MONDO:0018430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","equivalent_identifiers":["MONDO:0018430","orphanet:401959","UMLS:C4750913","SNOMEDCT:773497001","medgen:1660429"],"information_content":100.0}
{"id":"MONDO:0018433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with t(6;9)(p23;q34)","equivalent_identifiers":["MONDO:0018433","orphanet:402014","UMLS:C4518837","SNOMEDCT:733598001","medgen:1376401"],"information_content":100.0}
{"id":"MONDO:0018434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with t(9;11)(p22;q23)","equivalent_identifiers":["MONDO:0018434","orphanet:402017","UMLS:C2919692","medgen:753997"],"information_content":100.0}
{"id":"MONDO:0018435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)","equivalent_identifiers":["MONDO:0018435","DOID:0081083","orphanet:402020","UMLS:C2826172","NCIT:C82426","SNOMEDCT:450929006","SNOMEDCT:780844005","medgen:415269"],"information_content":92.8}
{"id":"MONDO:0018436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)","equivalent_identifiers":["MONDO:0018436","orphanet:402023","UMLS:C4706584","SNOMEDCT:763796007","medgen:1638466"],"information_content":100.0}
{"id":"MONDO:0018437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with NPM1 somatic mutations","equivalent_identifiers":["MONDO:0018437","orphanet:402026","UMLS:C4706386","SNOMEDCT:763309005","medgen:1633725"],"information_content":100.0}
{"id":"MONDO:0018439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic colitis","equivalent_identifiers":["MONDO:0018439","orphanet:402035","UMLS:C0267448","MEDDRA:10057271","NCIT:C27053","SNOMEDCT:29120000","medgen:75633","icd11.foundation:1169803773","HP:0031813"],"information_content":100.0}
{"id":"MONDO:0018440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive distal renal tubular acidosis","equivalent_identifiers":["MONDO:0018440","orphanet:402041","UMLS:C1864498","MESH:C537758","medgen:351142"],"information_content":92.8}
{"id":"MONDO:0018442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acitretin/etretinate embryopathy","equivalent_identifiers":["MONDO:0018442","orphanet:40366","UMLS:C2931755","UMLS:C4510941","MESH:C538169","SNOMEDCT:725287006","SNOMEDCT:890202007","medgen:1386157"],"information_content":100.0}
{"id":"MONDO:0018443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome","equivalent_identifiers":["MONDO:0018443","orphanet:404451","UMLS:C4751506","SNOMEDCT:774070008","medgen:1650412"],"information_content":100.0}
{"id":"MONDO:0018445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome","equivalent_identifiers":["MONDO:0018445","OMIM:618272","orphanet:404476","UMLS:C4748924","SNOMEDCT:782722002","medgen:1648360"],"information_content":100.0}
{"id":"MONDO:0018447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondromyxoid fibroma","equivalent_identifiers":["MONDO:0018447","orphanet:404507","EFO:0000332","UMLS:C0221290","MEDDRA:10008733","NCIT:C3830","SNOMEDCT:39553005","medgen:66375"],"information_content":89.4}
{"id":"MONDO:0018448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"clear cell papillary renal cell carcinoma","equivalent_identifiers":["MONDO:0018448","orphanet:404511","EFO:1000507","UMLS:C4518333","MEDDRA:10085663","NCIT:C121955","SNOMEDCT:734014001","SNOMEDCT:734015000","medgen:1388623"],"information_content":100.0}
{"id":"MONDO:0018450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy with respiratory distress type 2","equivalent_identifiers":["MONDO:0018450","orphanet:404521","UMLS:C4749434","SNOMEDCT:770727008","medgen:1658540"],"information_content":100.0}
{"id":"MONDO:0018458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypocalciuric hypercalcemia","equivalent_identifiers":["MONDO:0018458","DOID:0060699","OMIM.PS:145980","orphanet:405","UMLS:C1809471","MEDDRA:10068698","MEDDRA:10068702","MEDDRA:10068704","MEDDRA:10068705","NCIT:C123262","SNOMEDCT:237885008","medgen:369200","icd11.foundation:81374726","ICD10:E83.5"],"information_content":90.9}
{"id":"MONDO:0018459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated glycerol kinase deficiency","equivalent_identifiers":["MONDO:0018459","orphanet:408","UMLS:C0574108","SNOMEDCT:297256008","medgen:657821","icd11.foundation:542432712"],"information_content":92.8}
{"id":"MONDO:0018460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eales disease","equivalent_identifiers":["MONDO:0018460","orphanet:40923","UMLS:C0271073","MESH:C538011","MEDDRA:10057429","SNOMEDCT:54122009","medgen:75733","icd11.foundation:945788847"],"information_content":100.0}
{"id":"MONDO:0018461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Angelman syndrome due to a point mutation","equivalent_identifiers":["MONDO:0018461","orphanet:411511","UMLS:C5681146","medgen:1842258"],"information_content":100.0}
{"id":"MONDO:0018462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Angelman syndrome due to imprinting defect in 15q11-q13","equivalent_identifiers":["MONDO:0018462","orphanet:411515","UMLS:C5681834","medgen:1826135"],"information_content":100.0}
{"id":"MONDO:0018463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mild phosphoribosylpyrophosphate synthetase superactivity","equivalent_identifiers":["MONDO:0018463","orphanet:411536","UMLS:C5680016","medgen:1843112"],"information_content":100.0}
{"id":"MONDO:0018464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe phosphoribosylpyrophosphate synthetase superactivity","equivalent_identifiers":["MONDO:0018464","orphanet:411543","UMLS:C5680017","medgen:1843045"],"information_content":100.0}
{"id":"MONDO:0018465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hirata disease","equivalent_identifiers":["MONDO:0018465","DOID:0040100","orphanet:411593","UMLS:C0854359","MEDDRA:10022472","SNOMEDCT:408539000","medgen:678528"],"information_content":100.0}
{"id":"MONDO:0018467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephropathic infantile cystinosis","equivalent_identifiers":["MONDO:0018467","orphanet:411629","UMLS:C3537440","MESH:C565655","SNOMEDCT:62332007","medgen:760976"],"information_content":100.0}
{"id":"MONDO:0018468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proton-pump inhibitor-responsive esophageal eosinophilia","equivalent_identifiers":["MONDO:0018468","orphanet:411696","UMLS:C4749332","SNOMEDCT:770592009","medgen:1669432"],"information_content":100.0}
{"id":"MONDO:0018469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary non-tuberculous mycobacterial infection","equivalent_identifiers":["MONDO:0018469","orphanet:411703","UMLS:C3472679","SNOMEDCT:1731000119106","medgen:758704","icd11.foundation:1798822437"],"information_content":100.0}
{"id":"MONDO:0018470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal agenesis","equivalent_identifiers":["MONDO:0018470","DOID:14766","OMIM.PS:191830","orphanet:411709","UMLS:C0542519","MEDDRA:10038354","MEDDRA:10038356","NCIT:C99041","SNOMEDCT:204942005","medgen:154237","icd11.foundation:683319223","HP:0000104"],"information_content":86.3}
{"id":"MONDO:0018471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized eruptive keratoacanthoma","equivalent_identifiers":["MONDO:0018471","orphanet:411777","UMLS:C0345985","SNOMEDCT:254664008","medgen:577226"],"information_content":100.0}
{"id":"MONDO:0018472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated trichomegaly","equivalent_identifiers":["MONDO:0018472","DOID:0111566","orphanet:411788","UMLS:C4706941","SNOMEDCT:764523004","medgen:1639703","icd11.foundation:1611595637"],"information_content":100.0}
{"id":"MONDO:0018473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlipoproteinemia type 3","equivalent_identifiers":["MONDO:0018473","DOID:3145","OMIM:617347","orphanet:412","UMLS:C0020479","UMLS:C1862556","UMLS:C1862557","UMLS:C1862558","UMLS:C1862560","UMLS:C1862561","UMLS:C1862562","UMLS:C2676098","MESH:C566260","MESH:C566261","MESH:C566262","MESH:C566263","MESH:C566264","MESH:C566265","MESH:D006952","MEDDRA:10038316","MEDDRA:10045266","MEDDRA:10054595","MEDDRA:10054677","MEDDRA:10058389","MEDDRA:10058414","MEDDRA:10060751","MEDDRA:10060752","MEDDRA:10064615","MEDDRA:10064708","NCIT:C34710","SNOMEDCT:398796005","medgen:9364"],"information_content":100.0}
{"id":"MONDO:0018474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"13q12.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0018474","orphanet:412035","UMLS:C4750951","SNOMEDCT:773547003","medgen:1657124"],"information_content":100.0}
{"id":"MONDO:0018475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PRKAR1B-related neurodegenerative dementia with intermediate filaments","equivalent_identifiers":["MONDO:0018475","orphanet:412066","UMLS:C4751505","SNOMEDCT:774069007","medgen:1654800"],"information_content":100.0}
{"id":"MONDO:0018476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia-aphonia syndrome","equivalent_identifiers":["MONDO:0018476","orphanet:412217","UMLS:C5190573","SNOMEDCT:782718007","medgen:1675660"],"information_content":100.0}
{"id":"MONDO:0018477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kernicterus","equivalent_identifiers":["MONDO:0018477","DOID:2382","orphanet:415286","EFO:1001002","UMLS:C0022610","MESH:D007647","MEDDRA:10023140","MEDDRA:10023376","MEDDRA:10029814","MEDDRA:10058102","NCIT:C84799","SNOMEDCT:50143004","SNOMEDCT:74925009","medgen:44018","ICD10:P57","HP:0001343"],"information_content":95.4}
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{"id":"MONDO:0018485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to acid maltase deficiency, late-onset","equivalent_identifiers":["MONDO:0018485","orphanet:420429","UMLS:C0342753","SNOMEDCT:722343009","medgen:575206"],"information_content":100.0}
{"id":"MONDO:0018486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"visual snow syndrome","equivalent_identifiers":["MONDO:0018486","orphanet:420556","UMLS:C4324662","MESH:C000726567","MEDDRA:10079450","SNOMEDCT:771237009","medgen:1661883","icd11.foundation:806322116"],"information_content":100.0}
{"id":"MONDO:0018487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive severe congenital neutropenia due to CXCR2 deficiency","equivalent_identifiers":["MONDO:0018487","orphanet:420699","UMLS:C5190862","SNOMEDCT:783200000","medgen:1682018"],"information_content":100.0}
{"id":"MONDO:0018490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cono-spondylar dysplasia","equivalent_identifiers":["MONDO:0018490","orphanet:420794","UMLS:C4707860","SNOMEDCT:766874001","medgen:1638945"],"information_content":100.0}
{"id":"MONDO:0018492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary clear cell renal cell carcinoma","equivalent_identifiers":["MONDO:0018492","DOID:7192","orphanet:422526","UMLS:C1333985","NCIT:C36260","SNOMEDCT:764961009","medgen:234343"],"information_content":92.8}
{"id":"MONDO:0018493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant hyperthermia of anesthesia","equivalent_identifiers":["MONDO:0018493","DOID:8545","orphanet:423","UMLS:C0024591","UMLS:C5779784","MESH:D008305","MEDDRA:10016561","MEDDRA:10020742","MEDDRA:10020844","MEDDRA:10025599","MEDDRA:10025607","NCIT:C84869","SNOMEDCT:213026003","SNOMEDCT:405501007","medgen:9867","ICD10:T88.3","ICD9:995.86","HP:0002047"],"information_content":87.2}
{"id":"MONDO:0018494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-short stature-intellectual disability-facial dysmorphism syndrome","equivalent_identifiers":["MONDO:0018494","orphanet:423306","UMLS:C4749647","SNOMEDCT:771074000","medgen:1659920"],"information_content":100.0}
{"id":"MONDO:0018495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome","equivalent_identifiers":["MONDO:0018495","orphanet:423479","UMLS:C4517296","SNOMEDCT:732246009","medgen:1374000"],"information_content":100.0}
{"id":"MONDO:0018507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly-complex motor and sensory axonal neuropathy syndrome","equivalent_identifiers":["MONDO:0018507","orphanet:423894","UMLS:C4706585","SNOMEDCT:763798008","medgen:1637079"],"information_content":100.0}
{"id":"MONDO:0018521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"squamous cell carcinoma of pancreas","equivalent_identifiers":["MONDO:0018521","DOID:0080323","orphanet:424039","UMLS:C2675993","NCIT:C173813","medgen:393937","HP:0012142"],"information_content":95.4}
{"id":"MONDO:0018528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy with myasthenic-like onset","equivalent_identifiers":["MONDO:0018528","orphanet:424107","UMLS:C4706390","SNOMEDCT:763315005","medgen:1642781"],"information_content":100.0}
{"id":"MONDO:0018540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PFAPA syndrome","equivalent_identifiers":["MONDO:0018540","DOID:0081451","orphanet:42642","UMLS:C4082167","MEDDRA:10070594","MEDDRA:10070596","NCIT:C116917","SNOMEDCT:717231003","medgen:909507"],"information_content":100.0}
{"id":"MONDO:0018541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypoaldosteronism","equivalent_identifiers":["MONDO:0018541","orphanet:427","UMLS:C4275180","SNOMEDCT:715343000","medgen:899592","icd11.foundation:712299654"],"information_content":88.2}
{"id":"MONDO:0018542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe congenital neutropenia","equivalent_identifiers":["MONDO:0018542","DOID:0050590","OMIM.PS:202700","orphanet:42738","UMLS:C0340970","UMLS:C1853118","UMLS:C4551555","MEDDRA:10052210","MEDDRA:10052213","MEDDRA:10069819","NCIT:C166152","SNOMEDCT:89655007","medgen:343974","ICD10:D70","HP:0005541"],"information_content":81.3}
{"id":"MONDO:0018543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant hypocalcemia","equivalent_identifiers":["MONDO:0018543","DOID:0090109","OMIM.PS:601198","orphanet:428","UMLS:C4048195","NCIT:C123261","SNOMEDCT:711152006","medgen:884527","ICD10:E20.8"],"information_content":92.8}
{"id":"MONDO:0018544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenoleukodystrophy","equivalent_identifiers":["MONDO:0018544","DOID:10588","OMIM:300100","orphanet:43","UMLS:C0162309","MESH:D000326","MEDDRA:10051260","NCIT:C61252","medgen:57667","icd11.foundation:1085655586","ICD10:E71.52"],"information_content":90.9}
{"id":"MONDO:0018546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"serotonin syndrome","equivalent_identifiers":["MONDO:0018546","orphanet:43116","EFO:1001842","UMLS:C0699828","MESH:D020230","MEDDRA:10040108","SNOMEDCT:371089000","medgen:152119","icd11.foundation:678764364"],"information_content":100.0}
{"id":"MONDO:0018551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patent urachus","equivalent_identifiers":["MONDO:0018551","orphanet:431341","UMLS:C0266357","NCIT:C99005","SNOMEDCT:398316009","medgen:75610","icd11.foundation:1391202028","HP:0010479"],"information_content":100.0}
{"id":"MONDO:0018555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism","equivalent_identifiers":["MONDO:0018555","DOID:0090070","OMIM.PS:147950","orphanet:432","UMLS:C0271623","UMLS:C3489396","MEDDRA:10021012","MEDDRA:10059594","NCIT:C113347","NCIT:C120145","SNOMEDCT:33927004","medgen:82883","HP:0000044"],"information_content":70.5}
{"id":"MONDO:0018556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lambert-Eaton myasthenic syndrome","equivalent_identifiers":["MONDO:0018556","DOID:0050214","orphanet:43393","EFO:0020094","UMLS:C0022972","MESH:D015624","MEDDRA:10014070","MEDDRA:10067685","NCIT:C3155","SNOMEDCT:56989000","medgen:6005","icd11:8C62","icd11.foundation:796417193","ICD10:G70.80","ICD10:G73.1","ICD9:358.3"],"information_content":100.0}
{"id":"MONDO:0018561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"precocious puberty in female","equivalent_identifiers":["MONDO:0018561","orphanet:435561","UMLS:C0271616","SNOMEDCT:19911007","medgen:543449","HP:0010465"],"information_content":95.4}
{"id":"MONDO:0018564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3p25.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0018564","orphanet:435638","UMLS:C5437630","SNOMEDCT:890123006","medgen:1733655"],"information_content":100.0}
{"id":"MONDO:0018566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature-advanced bone age-early-onset osteoarthritis syndrome","equivalent_identifiers":["MONDO:0018566","orphanet:435804","UMLS:C5681177","SNOMEDCT:1197586007","medgen:1811782"],"information_content":100.0}
{"id":"MONDO:0018567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","equivalent_identifiers":["MONDO:0018567","orphanet:435819","UMLS:C5569028","SNOMEDCT:1187566006","medgen:1800451"],"information_content":100.0}
{"id":"MONDO:0018569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome","equivalent_identifiers":["MONDO:0018569","orphanet:435938","UMLS:C5681178","SNOMEDCT:1197588008","medgen:1812501"],"information_content":100.0}
{"id":"MONDO:0018570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatasia","equivalent_identifiers":["MONDO:0018570","DOID:14213","OMIM:241510","orphanet:436","UMLS:C0020630","UMLS:C0220743","MESH:C562440","MESH:D007014","MEDDRA:10049933","NCIT:C26798","SNOMEDCT:190859005","SNOMEDCT:30174008","SNOMEDCT:360792001","medgen:43799","icd11.foundation:422012968","ICD10:E83.39"],"information_content":86.3}
{"id":"MONDO:0018571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"contractures-developmental delay-Pierre Robin syndrome","equivalent_identifiers":["MONDO:0018571","orphanet:436003","UMLS:C5680042","SNOMEDCT:1216940001","medgen:1805516"],"information_content":100.0}
{"id":"MONDO:0018572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome","equivalent_identifiers":["MONDO:0018572","orphanet:436141","UMLS:C5681179","SNOMEDCT:1197591008","medgen:1808836"],"information_content":100.0}
{"id":"MONDO:0018573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intrauterine growth restriction-short stature-early adult-onset diabetes syndrome","equivalent_identifiers":["MONDO:0018573","orphanet:436144","UMLS:C5681180","SNOMEDCT:1197592001","medgen:1801791"],"information_content":100.0}
{"id":"MONDO:0018576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy","equivalent_identifiers":["MONDO:0018576","orphanet:436271","UMLS:C5688227","SNOMEDCT:1220598005","medgen:1806079"],"information_content":100.0}
{"id":"MONDO:0018577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","equivalent_identifiers":["MONDO:0018577","orphanet:436274","UMLS:C5680045","SNOMEDCT:1220599002","medgen:1810682"],"information_content":100.0}
{"id":"MONDO:0018582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mahvash Disease","equivalent_identifiers":["MONDO:0018582","DOID:0112306","OMIM:619290","orphanet:438274","UMLS:C4763635","NCIT:C157461","SNOMEDCT:1228875006","medgen:1677024"],"information_content":92.8}
{"id":"MONDO:0018588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALECT2 amyloidosis","equivalent_identifiers":["MONDO:0018588","orphanet:439224","UMLS:C5680047","SNOMEDCT:1228881003","medgen:1801621","icd11.foundation:1363099940"],"information_content":100.0}
{"id":"MONDO:0018589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AApoAIV amyloidosis","equivalent_identifiers":["MONDO:0018589","DOID:0080927","orphanet:439232","UMLS:C5568805","SNOMEDCT:1187124004","medgen:1800228","icd11.foundation:1235542353"],"information_content":100.0}
{"id":"MONDO:0018591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ITM2B amyloidosis","equivalent_identifiers":["MONDO:0018591","orphanet:439254","UMLS:C0268393","MESH:D028243","SNOMEDCT:45639009","medgen:82800","icd11.foundation:503091580"],"information_content":92.8}
{"id":"MONDO:0018601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome","equivalent_identifiers":["MONDO:0018601","orphanet:440354","UMLS:C5680056","SNOMEDCT:1229999001","medgen:1801714"],"information_content":100.0}
{"id":"MONDO:0018603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SFTPC- related interstitial lung disease","equivalent_identifiers":["MONDO:0018603","orphanet:440392"],"information_content":100.0}
{"id":"MONDO:0018607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined hamartoma of the retina and retinal pigment epithelium","equivalent_identifiers":["MONDO:0018607","orphanet:440727","UMLS:C1862062","NCIT:C174548","SNOMEDCT:1229998009","medgen:396281","HP:0030510"],"information_content":100.0}
{"id":"MONDO:0018608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pure autonomic failure","equivalent_identifiers":["MONDO:0018608","orphanet:441","UMLS:C0393911","UMLS:C2931939","MESH:C544351","MESH:D054970","MEDDRA:10089970","MEDDRA:10089971","MEDDRA:10089972","SNOMEDCT:84438001","medgen:98293","icd11.foundation:734022291"],"information_content":100.0}
{"id":"MONDO:0018610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset posterior subcapsular cataract","equivalent_identifiers":["MONDO:0018610","orphanet:441447","UMLS:C5681190","medgen:1842187"],"information_content":100.0}
{"id":"MONDO:0018611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset lamellar cataract","equivalent_identifiers":["MONDO:0018611","orphanet:441452","UMLS:C5681191","medgen:1843303"],"information_content":100.0}
{"id":"MONDO:0018612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital hypothyroidism","equivalent_identifiers":["MONDO:0018612","DOID:0050328","orphanet:442","UMLS:C0010308","UMLS:C3165526","MESH:D003409","MEDDRA:10010510","MEDDRA:10011381","MEDDRA:10021115","NCIT:C197816","NCIT:C26734","NCIT:C27116","SNOMEDCT:190268003","SNOMEDCT:217710005","medgen:41344","icd11.foundation:602450215","ICD10:E00.1","ICD10:E03.1","ICD9:243","HP:0000851"],"information_content":76.4}
{"id":"MONDO:0018613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AH amyloidosis","equivalent_identifiers":["MONDO:0018613","DOID:0080934","orphanet:442582","UMLS:C5204115","NCIT:C158962","SNOMEDCT:1231149005","medgen:1684787","icd11.foundation:1511136608"],"information_content":100.0}
{"id":"MONDO:0018614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"undetermined early-onset epileptic encephalopathy","equivalent_identifiers":["MONDO:0018614","orphanet:442835","UMLS:C5680057","medgen:1826068"],"information_content":81.3}
{"id":"MONDO:0018616","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central serous chorioretinopathy","equivalent_identifiers":["MONDO:0018616","orphanet:443079","EFO:0009784","UMLS:C0730328","MESH:D056833","MEDDRA:10007974","MEDDRA:10086644","MEDDRA:10086647","NCIT:C115124","SNOMEDCT:312956001","medgen:147591","icd11.foundation:1623925689","HP:0025567"],"information_content":100.0}
{"id":"MONDO:0018629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal stiff limb syndrome","equivalent_identifiers":["MONDO:0018629","orphanet:443804","UMLS:C4324606","MEDDRA:10079359","medgen:1672496"],"information_content":100.0}
{"id":"MONDO:0018631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marie Unna hereditary hypotrichosis","equivalent_identifiers":["MONDO:0018631","orphanet:444","UMLS:C2931059","MESH:C535912","SNOMEDCT:254234005","medgen:419706"],"information_content":92.8}
{"id":"MONDO:0018632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"11q22.2q22.3 microdeletion syndrome","equivalent_identifiers":["MONDO:0018632","orphanet:444002","UMLS:C5680062","SNOMEDCT:1229882003","medgen:1805294"],"information_content":100.0}
{"id":"MONDO:0018633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"20q11.2 microdeletion syndrome","equivalent_identifiers":["MONDO:0018633","orphanet:444051","UMLS:C5680063","SNOMEDCT:1229891004","medgen:1810637"],"information_content":100.0}
{"id":"MONDO:0018636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome","equivalent_identifiers":["MONDO:0018636","orphanet:444463"],"information_content":100.0}
{"id":"MONDO:0018637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial chylomicronemia syndrome","equivalent_identifiers":["MONDO:0018637","DOID:0111417","orphanet:444490","UMLS:C5442313","MEDDRA:10085051","MEDDRA:10085052","SNOMEDCT:1197489003","medgen:1778100"],"information_content":88.2}
{"id":"MONDO:0018638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoaldosteronism","equivalent_identifiers":["MONDO:0018638","DOID:0060854","DOID:4479","orphanet:444916","UMLS:C0033805","MESH:D011546","MEDDRA:10080593","NCIT:C85034","SNOMEDCT:77098009","medgen:18721","HP:0008242"],"information_content":82.6}
{"id":"MONDO:0018642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NIK deficiency","equivalent_identifiers":["MONDO:0018642","orphanet:447731","UMLS:C5680065","SNOMEDCT:1197478005","medgen:1808868"],"information_content":100.0}
{"id":"MONDO:0018643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"susceptibility to localized juvenile periodontitis","equivalent_identifiers":["MONDO:0018643","orphanet:447740","UMLS:C5681199","SNOMEDCT:1197482007","medgen:1812489"],"information_content":100.0}
{"id":"MONDO:0018644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant complex spastic paraplegia type 9B","equivalent_identifiers":["MONDO:0018644","orphanet:447757","UMLS:C5568979","SNOMEDCT:1187466009","medgen:1800402"],"information_content":100.0}
{"id":"MONDO:0018646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sclerosing cholangitis","equivalent_identifiers":["MONDO:0018646","DOID:14268","orphanet:447771","EFO:0004268","UMLS:C0008313","MESH:D015209","MEDDRA:10008609","MEDDRA:10039717","NCIT:C4828","SNOMEDCT:235917005","medgen:3036","ICD10:K83.09","HP:0030991"],"information_content":87.2}
{"id":"MONDO:0018648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Keratocystic odontogenic tumor","equivalent_identifiers":["MONDO:0018648","orphanet:447777","UMLS:C0341038","UMLS:C1708604","MEDDRA:10080839","NCIT:C54302","SNOMEDCT:110417007","SNOMEDCT:713277006","medgen:313330","HP:0010603"],"information_content":95.4}
{"id":"MONDO:0018655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome","equivalent_identifiers":["MONDO:0018655","orphanet:447893","UMLS:C5681201","medgen:1842862"],"information_content":100.0}
{"id":"MONDO:0018656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TACH syndrome","equivalent_identifiers":["MONDO:0018656","orphanet:447896","UMLS:C5680067","medgen:1842823"],"information_content":100.0}
{"id":"MONDO:0018657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome","equivalent_identifiers":["MONDO:0018657","OMIM:618373","orphanet:447961","UMLS:C5193062","UMLS:C5681108","SNOMEDCT:1230005002","medgen:1807813"],"information_content":100.0}
{"id":"MONDO:0018658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"19p13.3 microduplication syndrome","equivalent_identifiers":["MONDO:0018658","orphanet:447980","UMLS:C5679996","SNOMEDCT:1229883008","medgen:1807189"],"information_content":100.0}
{"id":"MONDO:0018661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zika fever","equivalent_identifiers":["MONDO:0018661","DOID:0060478","orphanet:448237","UMLS:C0276289","MESH:D000071243","MEDDRA:10078205","NCIT:C128423","SNOMEDCT:3928002","medgen:547236","icd11.foundation:1401438580","ICD10:A92.8","ICD9:066.3"],"information_content":95.4}
{"id":"MONDO:0018662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive brachyolmia","equivalent_identifiers":["MONDO:0018662","orphanet:448242","UMLS:C4760908","MEDDRA:10081837","SNOMEDCT:783789002","medgen:1675807","icd11.foundation:625421044"],"information_content":92.8}
{"id":"MONDO:0018663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"regressive spondylometaphyseal dysplasia","equivalent_identifiers":["MONDO:0018663","OMIM:618019","orphanet:448267","UMLS:C4747922","SNOMEDCT:1237412001","medgen:1648288"],"information_content":100.0}
{"id":"MONDO:0018664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectopia cordis","equivalent_identifiers":["MONDO:0018664","orphanet:448270","UMLS:C0013580","MESH:D054083","MEDDRA:10014144","NCIT:C111643","SNOMEDCT:78250005","medgen:41703","icd11.foundation:285576893","HP:0001683"],"information_content":88.2}
{"id":"MONDO:0018666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatoblastoma","equivalent_identifiers":["MONDO:0018666","DOID:687","orphanet:449","EFO:1000292","UMLS:C0206624","MESH:D018197","MEDDRA:10019822","MEDDRA:10019825","MEDDRA:10062001","NCIT:C3728","SNOMEDCT:109843000","SNOMEDCT:45024009","medgen:61644","icd11.foundation:1241693063","icd11.foundation:1556608523","ICD10:C22.2","HP:0002884"],"information_content":74.3}
{"id":"MONDO:0018667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleural empyema","equivalent_identifiers":["MONDO:0018667","DOID:3798","orphanet:449266","EFO:0009680","UMLS:C0014013","UMLS:C5945062","MESH:D016724","MEDDRA:10037381","MEDDRA:10037658","MEDDRA:10090758","NCIT:C45692","SNOMEDCT:405950009","SNOMEDCT:405951008","SNOMEDCT:58554001","medgen:4928","ICD10:J86","HP:0011919"],"information_content":95.4}
{"id":"MONDO:0018668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scedosporiosis","equivalent_identifiers":["MONDO:0018668","orphanet:449280","UMLS:C1142170","MESH:C000656924","MEDDRA:10059045","SNOMEDCT:1217227009","medgen:1713603","icd11.foundation:807637046"],"information_content":100.0}
{"id":"MONDO:0018669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Snake Bites","equivalent_identifiers":["MONDO:0018669","orphanet:449285","UMLS:C0037379","MESH:D012909","SNOMEDCT:61288004"],"information_content":100.0}
{"id":"MONDO:0018671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG4-related kidney disease","equivalent_identifiers":["MONDO:0018671","orphanet:449395","UMLS:C5392056","SNOMEDCT:1187507004","medgen:1708840","icd11.foundation:1877692678"],"information_content":100.0}
{"id":"MONDO:0018672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG4-related aortitis","equivalent_identifiers":["MONDO:0018672","orphanet:449400","UMLS:C5569008","SNOMEDCT:1187508009","medgen:1800431","icd11.foundation:593151236"],"information_content":100.0}
{"id":"MONDO:0018673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG4-related pachymeningitis","equivalent_identifiers":["MONDO:0018673","orphanet:449427","UMLS:C4545992","SNOMEDCT:762282007","medgen:1627405","icd11.foundation:1140264879"],"information_content":100.0}
{"id":"MONDO:0018674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG4-related submandibular gland disease","equivalent_identifiers":["MONDO:0018674","orphanet:449432","UMLS:C2826557","UMLS:C5679995","MEDDRA:10089280","NCIT:C82887","SNOMEDCT:1264005000","SNOMEDCT:448131008","medgen:1830092","icd11.foundation:588811750"],"information_content":100.0}
{"id":"MONDO:0018675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG4-related ophthalmic disorder","equivalent_identifiers":["MONDO:0018675","orphanet:449563","UMLS:C5569009","MEDDRA:10091105","SNOMEDCT:1187510006","medgen:1800432"],"information_content":92.8}
{"id":"MONDO:0018677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heterotaxia","equivalent_identifiers":["MONDO:0018677","DOID:0050545","OMIM.PS:306955","orphanet:157769","orphanet:450","EFO:0009081","UMLS:C0266642","UMLS:C3178805","MESH:D059446","MEDDRA:10059119","MEDDRA:10067265","MEDDRA:10083670","NCIT:C117273","NCIT:C87083","SNOMEDCT:14821001","medgen:465273","icd11.foundation:780273165","HP:0030853"],"information_content":78.8}
{"id":"MONDO:0018680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous pseudolymphoma","equivalent_identifiers":["MONDO:0018680","orphanet:451607","UMLS:C0311220","MEDDRA:10066171","NCIT:C62776","SNOMEDCT:128862000","medgen:81385","icd11.foundation:1620802923","HP:0031549"],"information_content":100.0}
{"id":"MONDO:0018681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome","equivalent_identifiers":["MONDO:0018681","orphanet:453499"],"information_content":92.8}
{"id":"MONDO:0018682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital insensitivity to pain with severe intellectual disability","equivalent_identifiers":["MONDO:0018682","orphanet:453510","UMLS:C5679994","SNOMEDCT:1237623009","medgen:1814444"],"information_content":100.0}
{"id":"MONDO:0018683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired ichthyosis","equivalent_identifiers":["MONDO:0018683","orphanet:454","UMLS:C0263386","MESH:C538175","MEDDRA:10000561","MEDDRA:10021199","NCIT:C112831","SNOMEDCT:8691004","medgen:78092","icd11.foundation:1504032289"],"information_content":100.0}
{"id":"MONDO:0018684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic neonatal atrial flutter","equivalent_identifiers":["MONDO:0018684","orphanet:45452","UMLS:C4275090","SNOMEDCT:715560009","medgen:904097","icd11.foundation:208964573"],"information_content":100.0}
{"id":"MONDO:0018685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"incessant infant ventricular tachycardia","equivalent_identifiers":["MONDO:0018685","orphanet:45453","UMLS:C0340487","SNOMEDCT:233908008","medgen:573762","icd11.foundation:1364925734"],"information_content":100.0}
{"id":"MONDO:0018690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adie syndrome","equivalent_identifiers":["MONDO:0018690","DOID:11549","OMIM:103100","orphanet:454718","EFO:0004126","UMLS:C0001519","UMLS:C0040416","MESH:D000270","MESH:D015845","MEDDRA:10020352","MEDDRA:10020353","MEDDRA:10037512","MEDDRA:10043995","MEDDRA:10050003","NCIT:C34357","SNOMEDCT:24225004","medgen:138","HP:0012074"],"information_content":100.0}
{"id":"MONDO:0018694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated tracheo-esophageal fistula","equivalent_identifiers":["MONDO:0018694","orphanet:454750","NCIT:C35080"],"information_content":92.8}
{"id":"MONDO:0018695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"avian influenza","equivalent_identifiers":["MONDO:0018695","DOID:4492","orphanet:454836","EFO:0005222","UMLS:C0016627","MESH:D005585","MEDDRA:10064097","MEDDRA:10073988","SNOMEDCT:55604004","medgen:42091","ICD10:J09.X"],"information_content":100.0}
{"id":"MONDO:0018696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corticobasal syndrome","equivalent_identifiers":["MONDO:0018696","DOID:0081392","orphanet:454887","UMLS:C5575119","SNOMEDCT:1230018005","medgen:1801322"],"information_content":100.0}
{"id":"MONDO:0018698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary neuroendocrine tumor of small intestine","equivalent_identifiers":["MONDO:0018698","orphanet:456333","UMLS:C5679993","medgen:1826066"],"information_content":100.0}
{"id":"MONDO:0018702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TAFRO syndrome","equivalent_identifiers":["MONDO:0018702","orphanet:457077","UMLS:C4552543","MEDDRA:10081058","SNOMEDCT:1187615007","medgen:1672503"],"information_content":100.0}
{"id":"MONDO:0018703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated splenogonadal fusion","equivalent_identifiers":["MONDO:0018703","orphanet:457083"],"information_content":100.0}
{"id":"MONDO:0018705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome","equivalent_identifiers":["MONDO:0018705","orphanet:457205","UMLS:C5680002","SNOMEDCT:1260129000","medgen:1814445"],"information_content":100.0}
{"id":"MONDO:0018709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-hypotonia-movement disorder syndrome","equivalent_identifiers":["MONDO:0018709","orphanet:457260","UMLS:C5681121","SNOMEDCT:1254654006","medgen:1814468"],"information_content":100.0}
{"id":"MONDO:0018710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephaly-severe kyphoscoliosis-overgrowth syndrome","equivalent_identifiers":["MONDO:0018710","orphanet:457359","UMLS:C5681123","SNOMEDCT:1260143005","medgen:1814470"],"information_content":100.0}
{"id":"MONDO:0018711","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome","equivalent_identifiers":["MONDO:0018711","orphanet:457365","UMLS:C5681124","SNOMEDCT:1208746001","medgen:1805563"],"information_content":100.0}
{"id":"MONDO:0018724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome","equivalent_identifiers":["MONDO:0018724","orphanet:459070","UMLS:C5687848","SNOMEDCT:1217228004","medgen:1811349"],"information_content":100.0}
{"id":"MONDO:0018725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corpus callosum agenesis-macrocephaly-hypertelorism syndrome","equivalent_identifiers":["MONDO:0018725","orphanet:459074","UMLS:C5679998","SNOMEDCT:1208720000","medgen:1801729"],"information_content":100.0}
{"id":"MONDO:0018733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability syndrome due to a DYRK1A point mutation","equivalent_identifiers":["MONDO:0018733","orphanet:464311","UMLS:C5679991","medgen:1826160"],"information_content":100.0}
{"id":"MONDO:0018734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"verrucous hemangioma","equivalent_identifiers":["MONDO:0018734","DOID:470","orphanet:464318","UMLS:C0334540","NCIT:C4299","SNOMEDCT:20985003","medgen:90802"],"information_content":100.0}
{"id":"MONDO:0018735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MALT1 wt Allele","equivalent_identifiers":["MONDO:0018735","orphanet:464321","UMLS:C5575322","NCIT:C60672","SNOMEDCT:1208725005","medgen:1804470"],"information_content":100.0}
{"id":"MONDO:0018736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kaposiform lymphangiomatosis","equivalent_identifiers":["MONDO:0018736","orphanet:464329","UMLS:C5681097","SNOMEDCT:1228861004","medgen:1807991","icd11.foundation:1139222402"],"information_content":100.0}
{"id":"MONDO:0018737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"catastrophic antiphospholipid syndrome","equivalent_identifiers":["MONDO:0018737","orphanet:464343","UMLS:C3662487","MEDDRA:10085687","SNOMEDCT:609329007","medgen:783641"],"information_content":100.0}
{"id":"MONDO:0018739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal alloimmune neutropenia","equivalent_identifiers":["MONDO:0018739","orphanet:464370","UMLS:C0272176","SNOMEDCT:14333004","medgen:543869"],"information_content":100.0}
{"id":"MONDO:0018740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug-induced methemoglobinemia","equivalent_identifiers":["MONDO:0018740","orphanet:464453","UMLS:C0472781","NCIT:C101045","SNOMEDCT:191390009","medgen:632786","icd11.foundation:746336827"],"information_content":100.0}
{"id":"MONDO:0018742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial gastric type 1 neuroendocrine tumor","equivalent_identifiers":["MONDO:0018742","orphanet:464756","UMLS:C5681095","SNOMEDCT:1264340007","medgen:1826112"],"information_content":100.0}
{"id":"MONDO:0018746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucous membrane pemphigoid","equivalent_identifiers":["MONDO:0018746","DOID:11656","orphanet:46486","EFO:1000680","UMLS:C0030804","UMLS:C0157721","MESH:D010390","MEDDRA:10004294","MEDDRA:10057052","MEDDRA:10067776","MEDDRA:10087064","NCIT:C34907","SNOMEDCT:34250006","SNOMEDCT:76092003","medgen:10619","icd11.foundation:1456138933","ICD10:L12.1","ICD9:694.6","ICD9:694.61"],"information_content":95.4}
{"id":"MONDO:0018747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired epidermolysis bullosa","equivalent_identifiers":["MONDO:0018747","DOID:4313","orphanet:46487","EFO:1000691","UMLS:C0079293","MESH:D016107","MEDDRA:10056508","MEDDRA:10074980","NCIT:C84690","SNOMEDCT:2772003","medgen:37178","icd11.foundation:2034586329","ICD10:L12.3"],"information_content":100.0}
{"id":"MONDO:0018748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"linear IgA Dermatosis","equivalent_identifiers":["MONDO:0018748","orphanet:46488","EFO:0009313","UMLS:C0406650","MESH:D062027","MEDDRA:10024512","MEDDRA:10024513","MEDDRA:10024515","MEDDRA:10048601","SNOMEDCT:95330001","medgen:473106","icd11.foundation:1802341051"],"information_content":100.0}
{"id":"MONDO:0018749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome","equivalent_identifiers":["MONDO:0018749","orphanet:46532","UMLS:C0271994","SNOMEDCT:16964007","medgen:543715","icd11.foundation:418601307"],"information_content":100.0}
{"id":"MONDO:0018752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exercise-induced malignant hyperthermia","equivalent_identifiers":["MONDO:0018752","orphanet:466650","UMLS:C4544037","UMLS:C5700399","SNOMEDCT:1237338002","SNOMEDCT:735907005","medgen:1814609","HP:0034732"],"information_content":100.0}
{"id":"MONDO:0018755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scorpion envenomation","equivalent_identifiers":["MONDO:0018755","orphanet:466677","UMLS:C0413114","SNOMEDCT:217670007"],"information_content":100.0}
{"id":"MONDO:0018759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome","equivalent_identifiers":["MONDO:0018759","orphanet:466921","UMLS:C5568863","SNOMEDCT:1187251009","medgen:1800286"],"information_content":100.0}
{"id":"MONDO:0018760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DeSanto-Shinawi syndrome","equivalent_identifiers":["MONDO:0018760","DOID:0081126","orphanet:466943","UMLS:C4225239","SNOMEDCT:1187247007","medgen:908218"],"information_content":92.8}
{"id":"MONDO:0018761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SMARCA4-deficient sarcoma of thorax","equivalent_identifiers":["MONDO:0018761","DOID:0080532","orphanet:466962","UMLS:C5554190","MEDDRA:10086058","NCIT:C183115","medgen:1806595"],"information_content":92.8}
{"id":"MONDO:0018763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tubulinopathy-associated dysgyria","equivalent_identifiers":["MONDO:0018763","orphanet:467166","UMLS:C5568850","SNOMEDCT:1187215002","medgen:1800273"],"information_content":100.0}
{"id":"MONDO:0018764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephalic primordial dwarfism due to RTTN deficiency","equivalent_identifiers":["MONDO:0018764","OMIM:614833","orphanet:468631","UMLS:C3553831","SNOMEDCT:1187195007","medgen:766745"],"information_content":95.4}
{"id":"MONDO:0018765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptogenic multifocal ulcerous stenosing enteritis","equivalent_identifiers":["MONDO:0018765","orphanet:468635","UMLS:C4302263","SNOMEDCT:722849002","medgen:927932","icd11.foundation:1401898155"],"information_content":100.0}
{"id":"MONDO:0018766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic enteropathy associated with SLCO2A1 gene","equivalent_identifiers":["MONDO:0018766","orphanet:468641","UMLS:C5568838","SNOMEDCT:1187194006","medgen:1800261"],"information_content":100.0}
{"id":"MONDO:0018767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe primary trimethylaminuria","equivalent_identifiers":["MONDO:0018767","DOID:0080361","OMIM:602079","orphanet:468726","UMLS:C5575503","MESH:C536561","SNOMEDCT:1237339005","medgen:1814174"],"information_content":100.0}
{"id":"MONDO:0018768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial cold autoinflammatory syndrome","equivalent_identifiers":["MONDO:0018768","DOID:0090061","OMIM.PS:120100","orphanet:47045","UMLS:C0343068","MEDDRA:10064570","MEDDRA:10064575","MEDDRA:10071094","NCIT:C119053","medgen:137986","icd11.foundation:1932140025","ICD10:L50.2"],"information_content":89.4}
{"id":"MONDO:0018770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jeune syndrome","equivalent_identifiers":["MONDO:0018770","DOID:0050592","OMIM.PS:208500","orphanet:474","UMLS:C0265275","MESH:C537571","MEDDRA:10057621","MEDDRA:10057642","NCIT:C84794","SNOMEDCT:75049004","medgen:78548","icd11.foundation:554018956","ICD10:Q77.2"],"information_content":78.8}
{"id":"MONDO:0018772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome","equivalent_identifiers":["MONDO:0018772","DOID:0050777","OMIM.PS:213300","orphanet:475","UMLS:C0431399","UMLS:C5437781","MESH:C536293","MEDDRA:10078574","NCIT:C74996","SNOMEDCT:253175003","SNOMEDCT:716997004","SNOMEDCT:890430009","medgen:98464","icd11.foundation:1414756318","HP:0002335"],"information_content":75.5}
{"id":"MONDO:0018773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome","equivalent_identifiers":["MONDO:0018773","orphanet:476093","UMLS:C5568137","SNOMEDCT:1179294000","medgen:1799560"],"information_content":100.0}
{"id":"MONDO:0018777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome","equivalent_identifiers":["MONDO:0018777","orphanet:476119","UMLS:C5568802","SNOMEDCT:1187115008","medgen:1800225"],"information_content":100.0}
{"id":"MONDO:0018780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital generalized hypercontractile muscle stiffness syndrome","equivalent_identifiers":["MONDO:0018780","orphanet:476406","UMLS:C5567789","SNOMEDCT:1174000008","medgen:1799212"],"information_content":100.0}
{"id":"MONDO:0018781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"KID syndrome","equivalent_identifiers":["MONDO:0018781","OMIM.PS:148210","orphanet:477","UMLS:C3665333","MESH:C536168","MESH:C580224","MEDDRA:10048786","SNOMEDCT:239059004","SNOMEDCT:2625009","medgen:777082"],"information_content":90.9}
{"id":"MONDO:0018784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pediatric multiple sclerosis","equivalent_identifiers":["MONDO:0018784","orphanet:477738","UMLS:C5568571","SNOMEDCT:1186728004","medgen:1799994"],"information_content":100.0}
{"id":"MONDO:0018793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary condylar hyperplasia","equivalent_identifiers":["MONDO:0018793","orphanet:477781","UMLS:C5568570","SNOMEDCT:1186726000","medgen:1799993"],"information_content":100.0}
{"id":"MONDO:0018794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","equivalent_identifiers":["MONDO:0018794","OMIM:618372","orphanet:477787","EFO:0010263","UMLS:C5567651","SNOMEDCT:1172901009","medgen:1799074"],"information_content":100.0}
{"id":"MONDO:0018800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kallmann syndrome","equivalent_identifiers":["MONDO:0018800","DOID:3614","orphanet:478","UMLS:C0162809","MESH:D017436","MEDDRA:10023276","MEDDRA:10053142","MEDDRA:10053145","MEDDRA:10064781","NCIT:C75479","SNOMEDCT:93559003","medgen:102469"],"information_content":80.6}
{"id":"MONDO:0018801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital bilateral absence of vas deferens","equivalent_identifiers":["MONDO:0018801","DOID:0111862","OMIM.PS:277180","orphanet:48","UMLS:C1865433","SNOMEDCT:275416002","medgen:400764"],"information_content":90.9}
{"id":"MONDO:0018804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MYO5B-related progressive familial intrahepatic cholestasis","equivalent_identifiers":["MONDO:0018804","orphanet:480491","UMLS:C5680100","medgen:1826070"],"information_content":100.0}
{"id":"MONDO:0018805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bile duct cyst","equivalent_identifiers":["MONDO:0018805","DOID:899","OMIM:603003","orphanet:480501","UMLS:C0008340","UMLS:C1257797","MESH:D015529","MEDDRA:10008625","NCIT:C2943","SNOMEDCT:1204346009","SNOMEDCT:1204371007","SNOMEDCT:397868007","SNOMEDCT:398197009","SNOMEDCT:440471007","medgen:3037","icd11.foundation:819487805","ICD10:Q44.4","HP:0100890"],"information_content":100.0}
{"id":"MONDO:0018808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Caroli syndrome","equivalent_identifiers":["MONDO:0018808","DOID:0081394","orphanet:480520","UMLS:C5700203","MEDDRA:10007672","SNOMEDCT:1237346001","medgen:1814547"],"information_content":100.0}
{"id":"MONDO:0018810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal hydranencephaly-diaphragmatic hernia syndrome","equivalent_identifiers":["MONDO:0018810","orphanet:480528","UMLS:C5567527","SNOMEDCT:1172705006","medgen:1798950"],"information_content":100.0}
{"id":"MONDO:0018813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement","equivalent_identifiers":["MONDO:0018813","orphanet:480541","UMLS:C4524190","MEDDRA:10080217","NCIT:C138195","SNOMEDCT:1172704005","SNOMEDCT:786909001","medgen:1617477"],"information_content":82.1}
{"id":"MONDO:0018815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aneurysmal bone cyst","equivalent_identifiers":["MONDO:0018815","OMIM:606179","orphanet:480553","EFO:1001760","UMLS:C0152244","MESH:D017824","MEDDRA:10002362","NCIT:C3516","SNOMEDCT:203468000","SNOMEDCT:76000001","medgen:57758","icd11.foundation:1603788294","HP:0012063"],"information_content":88.2}
{"id":"MONDO:0018816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated neonatal sclerosing cholangitis","equivalent_identifiers":["MONDO:0018816","OMIM:617394","orphanet:480556","UMLS:C4479344","medgen:1393230"],"information_content":100.0}
{"id":"MONDO:0018820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome","equivalent_identifiers":["MONDO:0018820","DOID:0081386","OMIM:616878","orphanet:480864","UMLS:C5567524","SNOMEDCT:1172698005","medgen:1798947"],"information_content":100.0}
{"id":"MONDO:0018821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability","equivalent_identifiers":["MONDO:0018821","orphanet:480880","UMLS:C5567523","SNOMEDCT:1172697000","medgen:1798946"],"information_content":100.0}
{"id":"MONDO:0018822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome","equivalent_identifiers":["MONDO:0018822","orphanet:480898","UMLS:C5567522","SNOMEDCT:1172696009","medgen:1798945"],"information_content":100.0}
{"id":"MONDO:0018823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome","equivalent_identifiers":["MONDO:0018823","orphanet:480907"],"information_content":100.0}
{"id":"MONDO:0018824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyoderma gangrenosum","equivalent_identifiers":["MONDO:0018824","DOID:8553","orphanet:48104","EFO:0006835","UMLS:C0085652","MESH:D017511","MEDDRA:10037634","MEDDRA:10037635","MEDDRA:10037636","SNOMEDCT:74578003","medgen:43224","icd11.foundation:2120746218","ICD10:L88","ICD9:686.01","HP:0025452"],"information_content":89.4}
{"id":"MONDO:0018825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PYCR2-related microcephaly-progressive leukoencephalopathy","equivalent_identifiers":["MONDO:0018825","orphanet:481152"],"information_content":100.0}
{"id":"MONDO:0018827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial chilblain lupus","equivalent_identifiers":["MONDO:0018827","OMIM.PS:610448","orphanet:481662","UMLS:C5688224","MEDDRA:10090201","SNOMEDCT:1220590003","medgen:1807766"],"information_content":92.8}
{"id":"MONDO:0018828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudo-TORCH syndrome 2","equivalent_identifiers":["MONDO:0018828","OMIM:617397","orphanet:481665","UMLS:C4479376","SNOMEDCT:1251449006","medgen:1373355"],"information_content":100.0}
{"id":"MONDO:0018829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial schizencephaly","equivalent_identifiers":["MONDO:0018829","orphanet:481986","UMLS:C2931870","MESH:C538514","medgen:419186"],"information_content":100.0}
{"id":"MONDO:0018830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kimura disease","equivalent_identifiers":["MONDO:0018830","DOID:7365","orphanet:482","EFO:1000722","UMLS:C0033838","MESH:D000082242","MESH:D000796","MEDDRA:10048640","NCIT:C26867","SNOMEDCT:399894006","medgen:46183","icd11.foundation:1229046951"],"information_content":100.0}
{"id":"MONDO:0018832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HTRA1-related autosomal dominant cerebral small vessel disease","equivalent_identifiers":["MONDO:0018832","orphanet:482077","UMLS:C5568568","SNOMEDCT:1186724002","medgen:1799991"],"information_content":100.0}
{"id":"MONDO:0018835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular regenerative hyperplasia of the liver","equivalent_identifiers":["MONDO:0018835","orphanet:48372","UMLS:C1318485","UMLS:C4520976","UMLS:C5779783","SNOMEDCT:65860006","SNOMEDCT:715140008","SNOMEDCT:737205008","medgen:1830387","icd11.foundation:1642018758","HP:0011954"],"information_content":100.0}
{"id":"MONDO:0018837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postinfectious vasculitis","equivalent_identifiers":["MONDO:0018837","orphanet:48435","UMLS:C4510302","SNOMEDCT:724063005","medgen:1376009"],"information_content":100.0}
{"id":"MONDO:0018838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly","equivalent_identifiers":["MONDO:0018838","DOID:0050453","OMIM.PS:607432","orphanet:48471","UMLS:C0266463","UMLS:C1879312","MESH:D054082","MEDDRA:10048911","MEDDRA:10048915","NCIT:C103921","SNOMEDCT:204036008","medgen:78604","ICD10:Q04.3","HP:0001339"],"information_content":72.5}
{"id":"MONDO:0018839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired schizencephaly","equivalent_identifiers":["MONDO:0018839","orphanet:485275","UMLS:C5681246","medgen:1825983"],"information_content":100.0}
{"id":"MONDO:0018840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated congenital hepatic fibrosis","equivalent_identifiers":["MONDO:0018840","orphanet:485426","UMLS:C0009714","MESH:C562378","MEDDRA:10056533","NCIT:C97071","SNOMEDCT:79607001","medgen:40449","HP:0002612"],"information_content":100.0}
{"id":"MONDO:0018842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary effusion lymphoma","equivalent_identifiers":["MONDO:0018842","orphanet:48686","EFO:1000491","UMLS:C1292753","MESH:D054685","MEDDRA:10065857","NCIT:C6915","SNOMEDCT:128800006","SNOMEDCT:713516007","medgen:220953","icd11.foundation:697911710"],"information_content":85.5}
{"id":"MONDO:0018844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urachal cyst","equivalent_identifiers":["MONDO:0018844","orphanet:488","UMLS:C0041915","MESH:D014496","MEDDRA:10065375","NCIT:C85216","SNOMEDCT:17234001","medgen:21770","icd11.foundation:1125432593","HP:0012618"],"information_content":100.0}
{"id":"MONDO:0018845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal myositis","equivalent_identifiers":["MONDO:0018845","orphanet:48918","UMLS:C0409988","SNOMEDCT:240119009","medgen:592748","icd11.foundation:708931518"],"information_content":100.0}
{"id":"MONDO:0018846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"penile agenesis","equivalent_identifiers":["MONDO:0018846","orphanet:49","UMLS:C0555231","UMLS:C1387005","UMLS:C4551491","MESH:C536649","MEDDRA:10087156","NCIT:C99009","SNOMEDCT:204908001","SNOMEDCT:59981001","medgen:278031","HP:0030261"],"information_content":92.8}
{"id":"MONDO:0018848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG4-related retroperitoneal fibrosis","equivalent_identifiers":["MONDO:0018848","orphanet:49041","UMLS:C0035357","UMLS:C4048297","MESH:D012185","MEDDRA:10016661","MEDDRA:10021244","MEDDRA:10038979","MEDDRA:10085210","NCIT:C123249","NCIT:C26876","SNOMEDCT:197808006","SNOMEDCT:49120005","medgen:20554","icd11.foundation:900354709","HP:0005200"],"information_content":95.4}
{"id":"MONDO:0018849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentinogenesis imperfecta","equivalent_identifiers":["MONDO:0018849","DOID:4154","orphanet:49042","UMLS:C0011436","MESH:D003811","MEDDRA:10054013","NCIT:C84667","SNOMEDCT:196286005","medgen:8313","icd11.foundation:2090257992","HP:0000703"],"information_content":90.9}
{"id":"MONDO:0018850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proliferating trichilemmal cyst","equivalent_identifiers":["MONDO:0018850","orphanet:492","UMLS:C2959585","MEDDRA:10089977","MEDDRA:10089983","NCIT:C27125","SNOMEDCT:128638007","SNOMEDCT:254678009","SNOMEDCT:446023005","medgen:754766"],"information_content":100.0}
{"id":"MONDO:0018851","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial keratoacanthoma","equivalent_identifiers":["MONDO:0018851","orphanet:493","UMLS:C5848325","SNOMEDCT:716774008","medgen:1843863"],"information_content":100.0}
{"id":"MONDO:0018852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achromatopsia","equivalent_identifiers":["MONDO:0018852","DOID:13911","orphanet:49382","UMLS:C0152200","UMLS:C0302129","MEDDRA:10000454","MEDDRA:10005175","NCIT:C84528","SNOMEDCT:102450007","medgen:57751","ICD10:H53.51","ICD9:368.54","HP:0011516"],"information_content":87.2}
{"id":"MONDO:0018853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transgrediens et progrediens palmoplantar keratoderma","equivalent_identifiers":["MONDO:0018853","orphanet:495","UMLS:C1851480","medgen:338702"],"information_content":100.0}
{"id":"MONDO:0018854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired purpura fulminans","equivalent_identifiers":["MONDO:0018854","orphanet:49566","UMLS:C4510896","SNOMEDCT:725157006","medgen:1377273"],"information_content":100.0}
{"id":"MONDO:0018855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis pilaris atrophicans","equivalent_identifiers":["MONDO:0018855","DOID:0080751","OMIM:604093","orphanet:498","UMLS:C0263428","MESH:C537412","MEDDRA:10083835","SNOMEDCT:400059005","SNOMEDCT:400126005","medgen:75520","icd11.foundation:273325594","HP:0100837"],"information_content":87.2}
{"id":"MONDO:0018856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lichen amyloidosis","equivalent_identifiers":["MONDO:0018856","orphanet:49804","UMLS:C5779561","MEDDRA:10011659","MEDDRA:10024427","SNOMEDCT:718105008","medgen:1830282"],"information_content":100.0}
{"id":"MONDO:0018858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Graham Little-Piccardi-Lassueur syndrome","equivalent_identifiers":["MONDO:0018858","orphanet:505","UMLS:C4273658","MEDDRA:10090035","SNOMEDCT:718215008","medgen:905915"],"information_content":100.0}
{"id":"MONDO:0018860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microlissencephaly-micromelia syndrome","equivalent_identifiers":["MONDO:0018860","orphanet:50810","UMLS:C4509878","SNOMEDCT:723405001","medgen:1377242"],"information_content":100.0}
{"id":"MONDO:0018861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zellweger-like syndrome without peroxisomal anomalies","equivalent_identifiers":["MONDO:0018861","orphanet:50812","UMLS:C4305104","SNOMEDCT:718880003","medgen:930773","icd11.foundation:697302760"],"information_content":100.0}
{"id":"MONDO:0018864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kikuchi-Fujimoto disease","equivalent_identifiers":["MONDO:0018864","orphanet:50918","UMLS:C0398367","MESH:D020042","MEDDRA:10069070","MEDDRA:10069071","MEDDRA:10069082","MEDDRA:10075722","MEDDRA:10075723","NCIT:C71719","SNOMEDCT:127217009","medgen:97979"],"information_content":100.0}
{"id":"MONDO:0018865","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"striate palmoplantar keratoderma","equivalent_identifiers":["MONDO:0018865","DOID:0081105","orphanet:50942","UMLS:C4707237","SNOMEDCT:764958008","medgen:1631598","icd11.foundation:1171134598"],"information_content":92.8}
{"id":"MONDO:0018866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi-Goutieres syndrome","equivalent_identifiers":["MONDO:0018866","DOID:0050629","OMIM.PS:225750","orphanet:51","UMLS:C0393591","MESH:C535607","MEDDRA:10083189","SNOMEDCT:230312006","medgen:97953","ICD10:G31.8"],"information_content":84.2}
{"id":"MONDO:0018868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metachromatic leukodystrophy","equivalent_identifiers":["MONDO:0018868","DOID:10581","orphanet:512","UMLS:C0023522","MESH:D007966","MEDDRA:10067609","NCIT:C61251","SNOMEDCT:238031009","SNOMEDCT:396338004","SNOMEDCT:66521008","medgen:6071","icd11.foundation:172326564","ICD10:E75.25"],"information_content":89.4}
{"id":"MONDO:0018869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cobblestone lissencephaly","equivalent_identifiers":["MONDO:0018869","orphanet:51577","UMLS:C0431376","MESH:D054222","SNOMEDCT:253149002","medgen:96562","HP:0007260"],"information_content":92.8}
{"id":"MONDO:0018870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arterial calcification of infancy","equivalent_identifiers":["MONDO:0018870","DOID:0050644","OMIM.PS:208000","orphanet:51608","UMLS:C1859727","MESH:C537440","medgen:395331"],"information_content":92.8}
{"id":"MONDO:0018871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myelomonocytic leukemia M4","equivalent_identifiers":["MONDO:0018871","DOID:0081082","orphanet:517","EFO:0000223","UMLS:C0023479","MESH:D015479","MEDDRA:10000890","MEDDRA:10054297","NCIT:C7463","SNOMEDCT:110005000","SNOMEDCT:277601005","SNOMEDCT:30962008","medgen:9732","icd11.foundation:1613358778","ICD10:C92.5","HP:0004820"],"information_content":82.6}
{"id":"MONDO:0018872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute megakaryoblastic leukemia","equivalent_identifiers":["MONDO:0018872","DOID:8761","orphanet:518","EFO:0003025","UMLS:C0023462","MESH:D007947","MEDDRA:10000859","MEDDRA:10000860","MEDDRA:10000861","MEDDRA:10027121","MEDDRA:10027122","MEDDRA:10027124","MEDDRA:10060556","NCIT:C3170","SNOMEDCT:188754005","SNOMEDCT:277602003","SNOMEDCT:52220008","medgen:44124","icd11.foundation:2057381869","ICD10:C94.2","ICD9:207.2","HP:0006733"],"information_content":88.2}
{"id":"MONDO:0018873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior cutaneous nerve entrapment syndrome","equivalent_identifiers":["MONDO:0018873","orphanet:51890","UMLS:C0393899","MEDDRA:10090731","SNOMEDCT:230648001","medgen:581659"],"information_content":100.0}
{"id":"MONDO:0018874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia","equivalent_identifiers":["MONDO:0018874","DOID:9119","OMIM:601626","orphanet:519","EFO:0000222","UMLS:C0023467","UMLS:C3275959","MESH:D015470","MEDDRA:10000801","MEDDRA:10000878","MEDDRA:10000880","MEDDRA:10000884","MEDDRA:10000886","MEDDRA:10024291","MEDDRA:10024346","MEDDRA:10028552","MEDDRA:10028557","MEDDRA:10029549","MEDDRA:10029551","MEDDRA:10051003","MEDDRA:10054296","MEDDRA:10060354","MEDDRA:10060394","MEDDRA:10060553","MEDDRA:10060557","NCIT:C3171","SNOMEDCT:1162928000","SNOMEDCT:91861009","medgen:9730","ICD9:205.0","KEGG.DISEASE:05221","HP:0004808"],"information_content":61.6}
{"id":"MONDO:0018876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mantle cell lymphoma","equivalent_identifiers":["MONDO:0018876","DOID:0050746","orphanet:52416","EFO:1001469","UMLS:C0334638","UMLS:C4721414","MESH:D020522","MEDDRA:10026798","MEDDRA:10026799","MEDDRA:10026806","MEDDRA:10061275","NCIT:C4337","NCIT:C4339","SNOMEDCT:443487006","SNOMEDCT:74654000","medgen:1668377","icd11.foundation:1804127841"],"information_content":75.3}
{"id":"MONDO:0018877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis punctata albescens","equivalent_identifiers":["MONDO:0018877","orphanet:52427","UMLS:C1405854","SNOMEDCT:715562001","medgen:278050","icd11.foundation:567796529"],"information_content":100.0}
{"id":"MONDO:0018878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"branchiootic syndrome","equivalent_identifiers":["MONDO:0018878","DOID:0060232","OMIM.PS:602588","orphanet:52429","UMLS:C4273131","MESH:C537104","SNOMEDCT:764810000","medgen:1636666","ICD10:Q87.0"],"information_content":90.9}
{"id":"MONDO:0018879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lichen planopilaris","equivalent_identifiers":["MONDO:0018879","orphanet:525","UMLS:C0023645","MESH:C535892","MEDDRA:10090037","SNOMEDCT:64540004","medgen:44150","icd11.foundation:572258139"],"information_content":100.0}
{"id":"MONDO:0018881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myelodysplasia","equivalent_identifiers":["MONDO:0018881","DOID:0050908","OMIM:614286","orphanet:52688","EFO:0000198","UMLS:C0026985","UMLS:C0033027","UMLS:C1851971","UMLS:C2713368","UMLS:C3276787","UMLS:C3463824","MESH:D009190","MESH:D011289","MEDDRA:10028532","MEDDRA:10028533","MEDDRA:10028534","MEDDRA:10028536","MEDDRA:10028548","MEDDRA:10036587","MEDDRA:10054577","NCIT:C3247","SNOMEDCT:109995007","SNOMEDCT:128623006","SNOMEDCT:188736006","medgen:483005","HP:0002863"],"information_content":71.1}
{"id":"MONDO:0018882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vasculitis","equivalent_identifiers":["MONDO:0018882","DOID:865","orphanet:52759","EFO:0006803","UMLS:C0042384","MESH:D014657","MEDDRA:10002369","MEDDRA:10047112","MEDDRA:10047115","MEDDRA:10047128","NCIT:C26912","SNOMEDCT:31996006","medgen:12054","icd11.foundation:572581721","HP:0002633"],"information_content":72.9}
{"id":"MONDO:0018883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Berardinelli-Seip congenital lipodystrophy","equivalent_identifiers":["MONDO:0018883","orphanet:528","NCIT:C84594","icd11.foundation:1628738474","icd11.foundation:641763399"],"information_content":90.9}
{"id":"MONDO:0018884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Roch-Leri mesosomatous lipomatosis","equivalent_identifiers":["MONDO:0018884","orphanet:529","UMLS:C4274284","SNOMEDCT:716772007","medgen:896565"],"information_content":100.0}
{"id":"MONDO:0018890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lyell syndrome","equivalent_identifiers":["MONDO:0018890","orphanet:537"],"information_content":100.0}
{"id":"MONDO:0018891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial tumoral calcinosis","equivalent_identifiers":["MONDO:0018891","orphanet:53715","EFO:0009385","UMLS:C0263628","MEDDRA:10059364","MEDDRA:10059367","SNOMEDCT:61778004","medgen:452340"],"information_content":88.2}
{"id":"MONDO:0018892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wyburn-Mason syndrome","equivalent_identifiers":["MONDO:0018892","orphanet:53719","UMLS:C0265321","MESH:C536752","MEDDRA:10048661","SNOMEDCT:6729006","medgen:120534"],"information_content":100.0}
{"id":"MONDO:0018895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Plummer-Vinson syndrome","equivalent_identifiers":["MONDO:0018895","orphanet:54028","UMLS:C0032249","MESH:D011004","MEDDRA:10034132","MEDDRA:10035632","MEDDRA:10040664","NCIT:C85016","SNOMEDCT:80126007","medgen:45967","icd11.foundation:1568337509"],"information_content":100.0}
{"id":"MONDO:0018896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombotic thrombocytopenic purpura","equivalent_identifiers":["MONDO:0018896","DOID:10772","orphanet:54057","UMLS:C0034155","MESH:D011697","MEDDRA:10037562","MEDDRA:10037563","MEDDRA:10043562","MEDDRA:10043648","MEDDRA:10073197","NCIT:C78797","SNOMEDCT:78129009","medgen:48266","icd11.foundation:1708277768","ICD10:M31.19"],"information_content":92.8}
{"id":"MONDO:0018899","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior cortical atrophy","equivalent_identifiers":["MONDO:0018899","orphanet:54247","UMLS:C4275079","MEDDRA:10078207","MEDDRA:10078221","SNOMEDCT:715574002","medgen:909667","icd11.foundation:377572273"],"information_content":100.0}
{"id":"MONDO:0018900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corticosteroid-sensitive aseptic abscess syndrome","equivalent_identifiers":["MONDO:0018900","orphanet:54251","UMLS:C4303863","SNOMEDCT:720751000","medgen:929532"],"information_content":100.0}
{"id":"MONDO:0018901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"left ventricular noncompaction","equivalent_identifiers":["MONDO:0018901","DOID:0060480","OMIM.PS:604169","orphanet:54260","UMLS:C1960469","MEDDRA:10091247","NCIT:C99544","medgen:450531","HP:0030682"],"information_content":82.1}
{"id":"MONDO:0018902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatocellular adenoma","equivalent_identifiers":["MONDO:0018902","DOID:0050868","orphanet:54272","EFO:0000762","UMLS:C0206669","MESH:D018248","MEDDRA:10001235","MEDDRA:10019629","MEDDRA:10019827","NCIT:C3758","SNOMEDCT:1156419009","SNOMEDCT:424263008","SNOMEDCT:78058005","medgen:61655","icd11.foundation:1481070735","HP:0012028"],"information_content":84.2}
{"id":"MONDO:0018904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary membranoproliferative glomerulonephritis","equivalent_identifiers":["MONDO:0018904","orphanet:54370"],"information_content":85.5}
{"id":"MONDO:0018906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"follicular lymphoma","equivalent_identifiers":["MONDO:0018906","DOID:0050873","orphanet:545","UMLS:C0024301","MESH:D008224","MEDDRA:10029473","MEDDRA:10029478","MEDDRA:10085128","MEDDRA:10085262","NCIT:C3209","SNOMEDCT:303055001","SNOMEDCT:307637005","SNOMEDCT:308121000","SNOMEDCT:55150002","medgen:7417","icd11.foundation:797822185","HP:0033125"],"information_content":71.2}
{"id":"MONDO:0018907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniopharyngioma","equivalent_identifiers":["MONDO:0018907","DOID:3840","orphanet:54595","EFO:1000209","UMLS:C0010276","MESH:D003397","MEDDRA:10011318","NCIT:C2964","SNOMEDCT:189179009","SNOMEDCT:40009002","medgen:41339","HP:0030062"],"information_content":82.1}
{"id":"MONDO:0018908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-Hodgkin lymphoma","equivalent_identifiers":["MONDO:0018908","DOID:0060060","orphanet:547","EFO:0005952","UMLS:C0024305","UMLS:C1622254","UMLS:C1622813","MESH:D008228","MEDDRA:10025311","MEDDRA:10029547","MEDDRA:10029593","NCIT:C3211","SNOMEDCT:1172592001","SNOMEDCT:128929007","SNOMEDCT:188675007","medgen:6160","HP:0012539"],"information_content":54.0}
{"id":"MONDO:0018911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maturity-onset diabetes of the young","equivalent_identifiers":["MONDO:0018911","DOID:0050524","OMIM.PS:125850","orphanet:552","UMLS:C0342276","MESH:C562772","MEDDRA:10026948","NCIT:C114769","SNOMEDCT:609561005","medgen:87433","ICD10:E11.8","KEGG.DISEASE:04950","HP:0004904"],"information_content":82.1}
{"id":"MONDO:0018913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malakoplakia","equivalent_identifiers":["MONDO:0018913","orphanet:556","EFO:1001807","UMLS:C0024525","UMLS:C0333746","MESH:D008287","MEDDRA:10080344","MEDDRA:10090120","NCIT:C36016","NCIT:C84833","SNOMEDCT:264545007","SNOMEDCT:50707001","SNOMEDCT:716766007","SNOMEDCT:82662004","medgen:44257","HP:0033046"],"information_content":100.0}
{"id":"MONDO:0018914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis simplex","equivalent_identifiers":["MONDO:0018914","orphanet:55654","UMLS:C1854310","MESH:C537160","SNOMEDCT:723362004","medgen:344257"],"information_content":85.5}
{"id":"MONDO:0018919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"McCune-Albright syndrome","equivalent_identifiers":["MONDO:0018919","DOID:1858","OMIM:174800","orphanet:562","UMLS:C0242292","MEDDRA:10051698","MEDDRA:10052032","NCIT:C48627","SNOMEDCT:726029005","medgen:69164","icd11.foundation:132749439","ICD10:Q78.1","ICD9:756.54"],"information_content":92.8}
{"id":"MONDO:0018920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripartum cardiomyopathy","equivalent_identifiers":["MONDO:0018920","DOID:9997","orphanet:563","EFO:0002628","UMLS:C0269972","UMLS:C0877208","MESH:D000099088","MEDDRA:10049430","MEDDRA:10071182","NCIT:C171602","SNOMEDCT:62377009","medgen:163756","icd11.foundation:1218807936","ICD10:O90.3","ICD9:674.5"],"information_content":95.4}
{"id":"MONDO:0018921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome","equivalent_identifiers":["MONDO:0018921","DOID:0050778","OMIM.PS:249000","orphanet:564","UMLS:C0265215","NCIT:C98978","SNOMEDCT:29076005","medgen:120513","icd11.foundation:695796893","ICD9:753.1"],"information_content":82.1}
{"id":"MONDO:0018922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cold agglutinin disease","equivalent_identifiers":["MONDO:0018922","orphanet:56425","UMLS:C1264008","SNOMEDCT:127055007","medgen:688249"],"information_content":100.0}
{"id":"MONDO:0018923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"22q11.2 deletion syndrome","equivalent_identifiers":["MONDO:0018923","orphanet:567","icd11.foundation:1868156761"],"information_content":89.4}
{"id":"MONDO:0018924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia, Lenz type","equivalent_identifiers":["MONDO:0018924","orphanet:568","icd11.foundation:678242327"],"information_content":100.0}
{"id":"MONDO:0018925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial or sporadic hemiplegic migraine","equivalent_identifiers":["MONDO:0018925","orphanet:569","UMLS:C0270862","MEDDRA:10019476","MEDDRA:10027604","SNOMEDCT:59292006","icd11.foundation:1957063016"],"information_content":86.3}
{"id":"MONDO:0018927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SUNCT syndrome","equivalent_identifiers":["MONDO:0018927","orphanet:57145","UMLS:C1262087","MESH:D050798","MEDDRA:10061981","MEDDRA:10087308","NCIT:C85174","SNOMEDCT:725058003","medgen:224724"],"information_content":100.0}
{"id":"MONDO:0018929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"medial condensing osteitis of the clavicle","equivalent_identifiers":["MONDO:0018929","orphanet:57196","UMLS:C5396729","SNOMEDCT:870320009","medgen:1710994"],"information_content":100.0}
{"id":"MONDO:0018930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monosomy 21","equivalent_identifiers":["MONDO:0018930","orphanet:574","UMLS:C0795875","MESH:C537108","medgen:162883"],"information_content":100.0}
{"id":"MONDO:0018931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucolipidosis type III, alpha/beta","equivalent_identifiers":["MONDO:0018931","DOID:0080071","OMIM:252600","orphanet:423461","orphanet:577","UMLS:C0033788","UMLS:C2673375","MESH:C567099","MEDDRA:10072929","SNOMEDCT:65764006","medgen:10988"],"information_content":100.0}
{"id":"MONDO:0018933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mazabraud syndrome","equivalent_identifiers":["MONDO:0018933","orphanet:57782","UMLS:C3697137","MEDDRA:10081724","SNOMEDCT:699251001","medgen:784403","icd11.foundation:1153435718"],"information_content":100.0}
{"id":"MONDO:0018935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hairy cell leukemia","equivalent_identifiers":["MONDO:0018935","DOID:285","orphanet:58017","EFO:1000956","UMLS:C0023443","MESH:D007943","MEDDRA:10019053","MEDDRA:10019055","MEDDRA:10024326","MEDDRA:10024362","NCIT:C7402","SNOMEDCT:118613001","SNOMEDCT:54087003","medgen:9727","icd11.foundation:82152208","ICD10:C91.4","ICD9:202.4"],"information_content":87.2}
{"id":"MONDO:0018937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 3","equivalent_identifiers":["MONDO:0018937","DOID:12801","orphanet:581","UMLS:C0026706","MESH:D009084","MEDDRA:10056890","MEDDRA:10056918","NCIT:C61262","SNOMEDCT:88393000","medgen:6452","icd11.foundation:1477250013"],"information_content":89.4}
{"id":"MONDO:0018938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis type 4","equivalent_identifiers":["MONDO:0018938","DOID:12804","orphanet:582","UMLS:C0026707","MESH:D009085","MEDDRA:10027983","MEDDRA:10028095","NCIT:C61263","SNOMEDCT:378007","medgen:44513","icd11.foundation:2078241550","ICD10:E76.219"],"information_content":90.9}
{"id":"MONDO:0018939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscle-eye-brain disease","equivalent_identifiers":["MONDO:0018939","orphanet:588","UMLS:C0457133","MEDDRA:10089751","SNOMEDCT:277950001","medgen:105341"],"information_content":84.8}
{"id":"MONDO:0018940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myasthenic syndrome","equivalent_identifiers":["MONDO:0018940","DOID:3635","OMIM.PS:601462","orphanet:590","UMLS:C0751882","MESH:D020294","MEDDRA:10083942","NCIT:C84647","SNOMEDCT:230672006","medgen:155650","icd11.foundation:1515367530"],"information_content":76.2}
{"id":"MONDO:0018942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrophagic myofasciitis","equivalent_identifiers":["MONDO:0018942","orphanet:592","UMLS:C2931639","MESH:C537829","SNOMEDCT:718175009","medgen:419858"],"information_content":100.0}
{"id":"MONDO:0018943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy","equivalent_identifiers":["MONDO:0018943","DOID:0080307","OMIM.PS:601419","orphanet:593","UMLS:C2678065","MESH:C580316","MEDDRA:10087101","NCIT:C83009","SNOMEDCT:699269005","medgen:395532","icd11.foundation:125656853","HP:0003715"],"information_content":81.7}
{"id":"MONDO:0018945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"McLeod syndrome","equivalent_identifiers":["MONDO:0018945","DOID:0112107","OMIM:300842","orphanet:59306","UMLS:C0398568","UMLS:C0878670","MESH:C564038","SNOMEDCT:115845005","SNOMEDCT:234411007","medgen:140765","icd11.foundation:1749275115"],"information_content":100.0}
{"id":"MONDO:0018946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhombencephalosynapsis","equivalent_identifiers":["MONDO:0018946","orphanet:59315","UMLS:C1866130","MEDDRA:10090354","SNOMEDCT:442300000","medgen:356456","icd11.foundation:2112180041","HP:0031913"],"information_content":100.0}
{"id":"MONDO:0018948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiminicore myopathy","equivalent_identifiers":["MONDO:0018948","DOID:0080991","orphanet:598","UMLS:C0270962","MEDDRA:10062549","SNOMEDCT:55133004","medgen:75731"],"information_content":87.2}
{"id":"MONDO:0018950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylcrotonyl-CoA carboxylase deficiency","equivalent_identifiers":["MONDO:0018950","DOID:0050710","OMIM.PS:210200","orphanet:6","UMLS:C4551505","NCIT:C98674","SNOMEDCT:13144005","medgen:1633312"],"information_content":92.8}
{"id":"MONDO:0018951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal myopathy with vocal cord weakness","equivalent_identifiers":["MONDO:0018951","orphanet:600","UMLS:C1853723","MESH:C565262","SNOMEDCT:702383005","medgen:342950","icd11.foundation:1133125258"],"information_content":100.0}
{"id":"MONDO:0018953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parietal foramina","equivalent_identifiers":["MONDO:0018953","DOID:0060285","OMIM.PS:168500","orphanet:60015","UMLS:C1868598","MESH:C566826","SNOMEDCT:718099006","icd11.foundation:905361904","HP:0004423"],"information_content":90.9}
{"id":"MONDO:0018954","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Loeys-Dietz syndrome","equivalent_identifiers":["MONDO:0018954","DOID:0050466","OMIM.PS:609192","orphanet:60030","UMLS:C2697932","MESH:D055947","MEDDRA:10081284","NCIT:C75006","SNOMEDCT:446263001","medgen:395827"],"information_content":87.2}
{"id":"MONDO:0018955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recurrent respiratory papillomatosis","equivalent_identifiers":["MONDO:0018955","orphanet:60032","UMLS:C1168198","MESH:C535297","MEDDRA:10059314","NCIT:C128637","SNOMEDCT:472827002","medgen:216998","icd11.foundation:151039887"],"information_content":95.4}
{"id":"MONDO:0018956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic bronchiectasis","equivalent_identifiers":["MONDO:0018956","orphanet:60033","UMLS:C0339985","SNOMEDCT:233629001","medgen:573462"],"information_content":90.9}
{"id":"MONDO:0018957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pudendal neuralgia","equivalent_identifiers":["MONDO:0018957","orphanet:60039","UMLS:C1997249","MESH:D060545","MEDDRA:10078517","SNOMEDCT:427972000","medgen:372681","icd11.foundation:1492963618"],"information_content":100.0}
{"id":"MONDO:0018959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"potassium-aggravated myotonia","equivalent_identifiers":["MONDO:0018959","OMIM:608390","orphanet:612","UMLS:C2931826","MESH:C538353","NCIT:C122788","SNOMEDCT:702355008","medgen:444151","icd11.foundation:1707250468"],"information_content":90.9}
{"id":"MONDO:0018960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital primary megaureter","equivalent_identifiers":["MONDO:0018960","orphanet:617","UMLS:C4273898","SNOMEDCT:717459000","medgen:903364","icd11.foundation:566805920"],"information_content":88.2}
{"id":"MONDO:0018961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial melanoma","equivalent_identifiers":["MONDO:0018961","DOID:6846","orphanet:618","UMLS:C1512419","NCIT:C8498","medgen:268851"],"information_content":89.4}
{"id":"MONDO:0018963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary methemoglobinemia","equivalent_identifiers":["MONDO:0018963","orphanet:621","UMLS:C0272087","MESH:C580280","MEDDRA:10010543","MEDDRA:10062832","NCIT:C98898","SNOMEDCT:267550008","medgen:473013","icd11.foundation:586921197"],"information_content":88.2}
{"id":"MONDO:0018964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"homocystinuria without methylmalonic aciduria","equivalent_identifiers":["MONDO:0018964","OMIM.PS:236270","orphanet:622","UMLS:C4303479","SNOMEDCT:721225009","medgen:929148","icd11.foundation:726186034"],"information_content":89.4}
{"id":"MONDO:0018965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alport syndrome","equivalent_identifiers":["MONDO:0018965","DOID:10983","OMIM.PS:301050","orphanet:63","UMLS:C1567741","MEDDRA:10001843","NCIT:C34842","SNOMEDCT:770414008","medgen:339209","icd11.foundation:1170919425"],"information_content":88.2}
{"id":"MONDO:0018967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia","equivalent_identifiers":["MONDO:0018967","orphanet:632"],"information_content":100.0}
{"id":"MONDO:0018968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iniencephaly","equivalent_identifiers":["MONDO:0018968","orphanet:63259","UMLS:C0152234","MEDDRA:10022034","NCIT:C124549","SNOMEDCT:2438005","medgen:57756","icd11.foundation:1558931335","HP:0034205"],"information_content":92.8}
{"id":"MONDO:0018969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniorachischisis","equivalent_identifiers":["MONDO:0018969","orphanet:63260","UMLS:C0152426","MEDDRA:10011321","NCIT:C98907","SNOMEDCT:32219008","medgen:56290","icd11.foundation:675690362","HP:0030770"],"information_content":100.0}
{"id":"MONDO:0018971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acrocephaly","equivalent_identifiers":["MONDO:0018971","UMLS:C0030044","UMLS:C5399823","SNOMEDCT:48069004","medgen:1726910","HP:0000262"],"information_content":92.8}
{"id":"MONDO:0018974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paraneoplastic pemphigus","equivalent_identifiers":["MONDO:0018974","DOID:0080852","orphanet:63455","EFO:0008602","UMLS:C1112570","MEDDRA:10057056","medgen:798302","icd11.foundation:104197957","ICD10:L10.81"],"information_content":100.0}
{"id":"MONDO:0018976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schisis association","equivalent_identifiers":["MONDO:0018976","orphanet:63862","UMLS:C2931271","MESH:C536633","SNOMEDCT:718095000","medgen:444017"],"information_content":100.0}
{"id":"MONDO:0018979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multifocal motor neuropathy","equivalent_identifiers":["MONDO:0018979","orphanet:641","UMLS:C0393847","MEDDRA:10065579","SNOMEDCT:230591002","medgen:581615"],"information_content":100.0}
{"id":"MONDO:0018982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease type C","equivalent_identifiers":["MONDO:0018982","orphanet:646","UMLS:C0220756","MESH:D052556","NCIT:C85214","SNOMEDCT:66751000","medgen:67399","icd11.foundation:812702125"],"information_content":86.3}
{"id":"MONDO:0018988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iridocorneal endothelial syndrome","equivalent_identifiers":["MONDO:0018988","orphanet:64734","UMLS:C1096100","MESH:D057129","MEDDRA:10053678","NCIT:C84792","SNOMEDCT:129623003","medgen:242751","icd11.foundation:265074385"],"information_content":90.9}
{"id":"MONDO:0018991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatoportal sclerosis","equivalent_identifiers":["MONDO:0018991","orphanet:64743","UMLS:C4273756","UMLS:C4476911","SNOMEDCT:718096004","medgen:1391122"],"information_content":100.0}
{"id":"MONDO:0018992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG4-related thyroid disease","equivalent_identifiers":["MONDO:0018992","DOID:14351","orphanet:64744","UMLS:C0154162","MEDDRA:10039142","MEDDRA:10053985","MEDDRA:10053986","NCIT:C35827","SNOMEDCT:89024000","medgen:509536","icd11.foundation:1357889668","ICD10:E06.5"],"information_content":100.0}
{"id":"MONDO:0018996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","equivalent_identifiers":["MONDO:0018996","DOID:0050755","OMIM:606002","orphanet:64753","UMLS:C1853761","MESH:C537308","NCIT:C165500","SNOMEDCT:725408001","medgen:340052"],"information_content":100.0}
{"id":"MONDO:0018997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome","equivalent_identifiers":["MONDO:0018997","DOID:3490","OMIM.PS:163950","orphanet:648","UMLS:C0028326","MESH:D009634","MEDDRA:10029748","NCIT:C34854","SNOMEDCT:205684007","SNOMEDCT:205824006","medgen:18073","icd11.foundation:1044395354"],"information_content":81.7}
{"id":"MONDO:0018998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber congenital amaurosis","equivalent_identifiers":["MONDO:0018998","DOID:14791","OMIM.PS:204000","orphanet:65","UMLS:C0339527","MESH:D057130","MEDDRA:10070667","NCIT:C129075","SNOMEDCT:193413001","medgen:137922","icd11.foundation:650490256"],"information_content":79.9}
{"id":"MONDO:0018999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LCAT deficiency","equivalent_identifiers":["MONDO:0018999","orphanet:650","UMLS:C5779633","SNOMEDCT:49227001","medgen:1830326"],"information_content":92.8}
{"id":"MONDO:0019000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"perineural cyst","equivalent_identifiers":["MONDO:0019000","EFO:1001858","UMLS:C0520720","MESH:D052958","MEDDRA:10051766","MEDDRA:10051770","MEDDRA:10085865","NCIT:C4797","SNOMEDCT:81634008","medgen:105457","icd11.foundation:881909739","HP:0025643"],"information_content":100.0}
{"id":"MONDO:0019002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lhermitte-Duclos disease","equivalent_identifiers":["MONDO:0019002","orphanet:65285","UMLS:C0391826","NCIT:C8419","SNOMEDCT:128791005","SNOMEDCT:67944007","medgen:140251","HP:0500009"],"information_content":90.9}
{"id":"MONDO:0019004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephroblastoma","equivalent_identifiers":["MONDO:0019004","DOID:2154","DOID:5176","orphanet:654","UMLS:C0027708","MEDDRA:10029145","MEDDRA:10047985","MEDDRA:10047986","MEDDRA:10047987","NCIT:C40407","SNOMEDCT:25081006","SNOMEDCT:302849000","HP:0002667"],"information_content":78.5}
{"id":"MONDO:0019005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis","equivalent_identifiers":["MONDO:0019005","DOID:12712","OMIM.PS:256100","orphanet:655","UMLS:C0687120","MEDDRA:10066248","NCIT:C123200","SNOMEDCT:204958008","medgen:146912","icd11.foundation:158151813","HP:0000090"],"information_content":80.6}
{"id":"MONDO:0019006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial idiopathic steroid-resistant nephrotic syndrome","equivalent_identifiers":["MONDO:0019006","orphanet:656","UMLS:C4273714","SNOMEDCT:718141008","medgen:902527","icd11.foundation:1385860879"],"information_content":82.1}
{"id":"MONDO:0019007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaginal atresia","equivalent_identifiers":["MONDO:0019007","orphanet:65681","UMLS:C0220763","UMLS:C1321884","UMLS:C1841990","MEDDRA:10046879","SNOMEDCT:1144871000","SNOMEDCT:248871003","medgen:232948","icd11.foundation:1126562070","HP:0003250"],"information_content":90.9}
{"id":"MONDO:0019008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign recurrent intrahepatic cholestasis","equivalent_identifiers":["MONDO:0019008","DOID:0070230","OMIM.PS:243300","orphanet:65682","UMLS:C0149841","MEDDRA:10087038","NCIT:C84402","SNOMEDCT:31155007","medgen:57703","icd11.foundation:288945286"],"information_content":90.9}
{"id":"MONDO:0019009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated focal cortical dysplasia","equivalent_identifiers":["MONDO:0019009","orphanet:65683","UMLS:C4707795","SNOMEDCT:766710005","medgen:1645432"],"information_content":86.3}
{"id":"MONDO:0019012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carpenter syndrome","equivalent_identifiers":["MONDO:0019012","DOID:0060234","OMIM.PS:201000","orphanet:65759","UMLS:C1275078","MESH:C563187","MEDDRA:10081310","NCIT:C98873","SNOMEDCT:403767009","medgen:226897","icd11.foundation:2132713612"],"information_content":90.9}
{"id":"MONDO:0019015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"omphalocele","equivalent_identifiers":["MONDO:0019015","DOID:0060327","orphanet:660","UMLS:C0795690","MEDDRA:10030308","MEDDRA:10030309","NCIT:C98997","SNOMEDCT:18735004","medgen:162756","icd11.foundation:1168696429","HP:0001539"],"information_content":92.8}
{"id":"MONDO:0019016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternally-inherited progressive external ophthalmoplegia","equivalent_identifiers":["MONDO:0019016","orphanet:663"],"information_content":100.0}
{"id":"MONDO:0019017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short fifth metacarpals-insulin resistance syndrome","equivalent_identifiers":["MONDO:0019017","orphanet:66518","UMLS:C4303621","SNOMEDCT:721069005","medgen:929290"],"information_content":100.0}
{"id":"MONDO:0019018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tako-tsubo cardiomyopathy","equivalent_identifiers":["MONDO:0019018","orphanet:66529","EFO:1002000","UMLS:C1739395","MESH:D054549","MEDDRA:10066286","MEDDRA:10066287","MEDDRA:10067676","MEDDRA:10067748","MEDDRA:10067814","NCIT:C85181","SNOMEDCT:441541008","medgen:366029","icd11.foundation:478139552","HP:0011665"],"information_content":100.0}
{"id":"MONDO:0019019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta","equivalent_identifiers":["MONDO:0019019","DOID:12347","OMIM.PS:166200","orphanet:666","UMLS:C0029434","MESH:D010013","MEDDRA:10006371","MEDDRA:10031243","NCIT:C26837","SNOMEDCT:78314001","medgen:45246","icd11.foundation:1219932551","ICD9:756.51"],"information_content":72.7}
{"id":"MONDO:0019020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PANDAS","equivalent_identifiers":["MONDO:0019020","orphanet:66624","UMLS:C2931429","MESH:C537163","MEDDRA:10071571","MEDDRA:10071582","MEDDRA:10072147","SNOMEDCT:446682003","medgen:419798"],"information_content":100.0}
{"id":"MONDO:0019022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sensorineural hearing loss-early graying-essential tremor syndrome","equivalent_identifiers":["MONDO:0019022","orphanet:66633","UMLS:C4510044","SNOMEDCT:723721007","medgen:1389497"],"information_content":100.0}
{"id":"MONDO:0019023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous mastocytosis","equivalent_identifiers":["MONDO:0019023","DOID:3663","OMIM:154800","orphanet:66646","EFO:1000886","UMLS:C1136033","UMLS:C4749142","UMLS:C4749143","MESH:D034701","NCIT:C7137","SNOMEDCT:397012002","SNOMEDCT:703827008","medgen:210143","icd11.foundation:1300710062","HP:0200151"],"information_content":84.2}
{"id":"MONDO:0019024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mast cell sarcoma","equivalent_identifiers":["MONDO:0019024","DOID:355","orphanet:66661","EFO:1000364","UMLS:C0036221","MESH:D012515","MEDDRA:10025638","NCIT:C9348","SNOMEDCT:118615008","SNOMEDCT:13583002","SNOMEDCT:397010005","medgen:11322","icd11.foundation:1993363632","icd11.foundation:233404891","ICD10:C96.22","ICD9:202.6"],"information_content":100.0}
{"id":"MONDO:0019026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive osteopetrosis","equivalent_identifiers":["MONDO:0019026","OMIM.PS:259700","orphanet:667","UMLS:C1318518","UMLS:C4272578","NCIT:C129733","SNOMEDCT:367489004","medgen:1385510"],"information_content":84.2}
{"id":"MONDO:0019028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amoebiasis due to Entamoeba histolytica","equivalent_identifiers":["MONDO:0019028","orphanet:67","UMLS:C2930799","MESH:C531613","medgen:443898"],"information_content":100.0}
{"id":"MONDO:0019031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia with congenital dyserythropoietic anemia","equivalent_identifiers":["MONDO:0019031","orphanet:67044","UMLS:C4302508","SNOMEDCT:722475006","medgen:928177"],"information_content":100.0}
{"id":"MONDO:0019032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability with isolated growth hormone deficiency","equivalent_identifiers":["MONDO:0019032","orphanet:67045","UMLS:C1848068","MESH:C564712","medgen:341145"],"information_content":100.0}
{"id":"MONDO:0019033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Scalp folds","equivalent_identifiers":["MONDO:0019033","orphanet:671","UMLS:C0263417","UMLS:C4072877","UMLS:C4280378","MEDDRA:10080996","SNOMEDCT:51603000","medgen:78095","icd11.foundation:71926572","HP:0010541"],"information_content":90.9}
{"id":"MONDO:0019035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatoblastoma","equivalent_identifiers":["MONDO:0019035","DOID:6823","orphanet:677","EFO:1000446","UMLS:C0334489","MESH:C537162","MEDDRA:10073367","NCIT:C4265","SNOMEDCT:189814006","SNOMEDCT:53618008","medgen:87250","icd11.foundation:1310236105","icd11.foundation:733863058","HP:0100757"],"information_content":95.4}
{"id":"MONDO:0019036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amoebiasis due to free-living amoebae","equivalent_identifiers":["MONDO:0019036","orphanet:68","UMLS:C0153326","SNOMEDCT:266169003","medgen:509253"],"information_content":100.0}
{"id":"MONDO:0019037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive supranuclear palsy","equivalent_identifiers":["MONDO:0019037","DOID:678","OMIM.PS:601104","orphanet:683","UMLS:C0038868","MESH:D013494","MEDDRA:10036813","MEDDRA:10054970","NCIT:C85028","SNOMEDCT:192976002","medgen:21026","icd11.foundation:1493396558","ICD10:G23.1"],"information_content":85.5}
{"id":"MONDO:0019046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukodystrophy","equivalent_identifiers":["MONDO:0019046","DOID:0050987","DOID:0060786","DOID:10579","OMIM.PS:312080","orphanet:68356","UMLS:C0023520","MEDDRA:10024280","MEDDRA:10024381","MEDDRA:10068202","NCIT:C61253","SNOMEDCT:192781003","medgen:6070","icd11.foundation:468040251","ICD9:330.0","HP:0002415"],"information_content":65.9}
{"id":"MONDO:0019060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone neoplasm","equivalent_identifiers":["MONDO:0019060","orphanet:68411","EFO:0003820","UMLS:C0005967","UMLS:C2732838","UMLS:C4020771","MEDDRA:10005995","MEDDRA:10005996","MEDDRA:10028984","NCIT:C9343","SNOMEDCT:115239009","SNOMEDCT:126537000","SNOMEDCT:442868003","medgen:488993","HP:0010622"],"information_content":60.5}
{"id":"MONDO:0019065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyloidosis","equivalent_identifiers":["MONDO:0019065","DOID:9120","orphanet:69","EFO:1001875","UMLS:C0002726","MESH:D000686","MEDDRA:10002021","MEDDRA:10002022","MEDDRA:10002023","MEDDRA:10002024","NCIT:C2868","SNOMEDCT:17602002","medgen:272","icd11.foundation:2078467774","ICD10:E85","ICD9:277.3","HP:0011034"],"information_content":74.1}
{"id":"MONDO:0019067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic steroid-sensitive nephrotic syndrome","equivalent_identifiers":["MONDO:0019067","orphanet:69061"],"information_content":89.4}
{"id":"MONDO:0019068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization","equivalent_identifiers":["MONDO:0019068","orphanet:69063","UMLS:C4511239","SNOMEDCT:725592009","medgen:1384031"],"information_content":100.0}
{"id":"MONDO:0019071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pure hair and nail ectodermal dysplasia","equivalent_identifiers":["MONDO:0019071","DOID:0111655","orphanet:69084","UMLS:C1865951"],"information_content":89.4}
{"id":"MONDO:0019072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intrahepatic cholestasis","equivalent_identifiers":["MONDO:0019072","DOID:1852","UMLS:C0008372","UMLS:C5139034","MESH:D002780","MEDDRA:10008638","NCIT:C84400","SNOMEDCT:235888006","SNOMEDCT:4637005","medgen:3042","HP:0001406"],"information_content":79.0}
{"id":"MONDO:0019073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis-lymphedema-telangiectasia-renal defect syndrome","equivalent_identifiers":["MONDO:0019073","DOID:0111360","OMIM:137940","UMLS:C1841989","UMLS:C4317151","MESH:C536825","SNOMEDCT:723363009","medgen:1373459"],"information_content":100.0}
{"id":"MONDO:0019074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral acute depigmentation of the iris","equivalent_identifiers":["MONDO:0019074","orphanet:69736","UMLS:C4304058","SNOMEDCT:720460007","medgen:929727"],"information_content":100.0}
{"id":"MONDO:0019075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bosley-Salih-Alorainy syndrome","equivalent_identifiers":["MONDO:0019075","orphanet:69737","UMLS:C1832216","SNOMEDCT:720567008","medgen:321908","icd11.foundation:1771217937"],"information_content":100.0}
{"id":"MONDO:0019076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"circumscribed palmoplantar hypokeratosis","equivalent_identifiers":["MONDO:0019076","orphanet:69744","UMLS:C0406762","SNOMEDCT:239073008","medgen:590662"],"information_content":100.0}
{"id":"MONDO:0019077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"warty dyskeratoma","equivalent_identifiers":["MONDO:0019077","orphanet:69745","UMLS:C0334063","MEDDRA:10068856","NCIT:C4087","SNOMEDCT:22524002","SNOMEDCT:254676008","medgen:137717","icd11.foundation:1427186445"],"information_content":100.0}
{"id":"MONDO:0019078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3C syndrome","equivalent_identifiers":["MONDO:0019078","DOID:0060565","OMIM.PS:220210","orphanet:7","UMLS:C0796137","MESH:C535313","SNOMEDCT:718556007","medgen:163220"],"information_content":89.4}
{"id":"MONDO:0019079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proximal spinal muscular atrophy","equivalent_identifiers":["MONDO:0019079","orphanet:70","UMLS:C4024957","medgen:870510","HP:0006959"],"information_content":84.8}
{"id":"MONDO:0019080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia totalis","equivalent_identifiers":["MONDO:0019080","orphanet:700","UMLS:C0263504","MEDDRA:10001766","SNOMEDCT:19754005","medgen:75525","icd11.foundation:1633035058","HP:0007418"],"information_content":92.8}
{"id":"MONDO:0019082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pemphigoid","equivalent_identifiers":["MONDO:0019082","DOID:8506","orphanet:703","EFO:0007187","UMLS:C0030805","MESH:D010391","MEDDRA:10006567","MEDDRA:10006568","MEDDRA:10034277","NCIT:C34908","NCIT:C84389","SNOMEDCT:77090002","medgen:10620","icd11.foundation:233308710","ICD10:L12.0","ICD9:694.5"],"information_content":89.4}
{"id":"MONDO:0019084","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radiation proctitis","equivalent_identifiers":["MONDO:0019084","orphanet:70475","UMLS:C0400827","MEDDRA:10037766","SNOMEDCT:235760009","medgen:586421","icd11.foundation:177305885"],"information_content":100.0}
{"id":"MONDO:0019085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vernal keratoconjunctivitis","equivalent_identifiers":["MONDO:0019085","orphanet:70476","UMLS:C0022577","MEDDRA:10081000","SNOMEDCT:317349009","medgen:9622","icd11.foundation:670300288"],"information_content":100.0}
{"id":"MONDO:0019086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carcinoma of esophagus","equivalent_identifiers":["MONDO:0019086","DOID:1107","orphanet:70482","EFO:0002916","UMLS:C0152018","MEDDRA:10007425","MEDDRA:10007444","MEDDRA:10007445","MEDDRA:10015366","MEDDRA:10015372","MEDDRA:10030155","MEDDRA:10030157","NCIT:C3513","SNOMEDCT:372138000","medgen:56256","HP:0011459"],"information_content":65.6}
{"id":"MONDO:0019087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholangiocarcinoma","equivalent_identifiers":["MONDO:0019087","DOID:4947","orphanet:70567","EFO:0005221","UMLS:C0206698","UMLS:C0280725","MESH:D018281","MEDDRA:10008593","MEDDRA:10008595","MEDDRA:10077861","NCIT:C4436","NCIT:C8265","SNOMEDCT:312104005","SNOMEDCT:70179006","medgen:60210","icd11.foundation:2110597275","HP:0030153"],"information_content":70.3}
{"id":"MONDO:0019088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"post-transplant lymphoproliferative disease","equivalent_identifiers":["MONDO:0019088","orphanet:70568","UMLS:C0432487","MEDDRA:10051358","NCIT:C4727","SNOMEDCT:1155771008","SNOMEDCT:254290004","medgen:98160"],"information_content":78.0}
{"id":"MONDO:0019091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchopulmonary dysplasia","equivalent_identifiers":["MONDO:0019091","DOID:11650","orphanet:70589","UMLS:C0006287","UMLS:C0495402","MESH:D001997","MEDDRA:10006475","MEDDRA:10066204","NCIT:C90599","SNOMEDCT:67569000","medgen:2738","icd11.foundation:1462855296","ICD10:P27.1"],"information_content":90.9}
{"id":"MONDO:0019093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency due to selective anti-polysaccharide antibody deficiency","equivalent_identifiers":["MONDO:0019093","orphanet:70593","UMLS:C0398711","UMLS:C5399780","SNOMEDCT:234556002","medgen:1747183","icd11.foundation:849949348","HP:0012475"],"information_content":79.6}
{"id":"MONDO:0019095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plague","equivalent_identifiers":["MONDO:0019095","DOID:3482","orphanet:707","EFO:0009425","UMLS:C0032064","MESH:D010930","MEDDRA:10035148","MEDDRA:10035149","MEDDRA:10046098","MEDDRA:10048250","NCIT:C85015","SNOMEDCT:58750007","medgen:10785","icd11.foundation:1596449540","ICD10:A20","ICD9:020"],"information_content":90.9}
{"id":"MONDO:0019098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune thrombocytopenia","equivalent_identifiers":["MONDO:0019098","orphanet:71203","UMLS:C0242584","UMLS:C0272293","UMLS:C0376362","UMLS:C0920163","MEDDRA:10050245","MEDDRA:10051057","MEDDRA:10083842","SNOMEDCT:128091003","SNOMEDCT:13172003","SNOMEDCT:234490009","SNOMEDCT:32273002","medgen:116621","HP:0001973"],"information_content":92.8}
{"id":"MONDO:0019100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuromyelitis optica","equivalent_identifiers":["MONDO:0019100","DOID:8869","orphanet:71211","EFO:0004256","EFO:0020919","UMLS:C0027873","UMLS:C0221059","MESH:D009471","MEDDRA:10012574","MEDDRA:10029322","MEDDRA:10041225","MEDDRA:10052887","MEDDRA:10058009","MEDDRA:10077875","NCIT:C84934","SNOMEDCT:25044007","medgen:45063","icd11.foundation:744293382","ICD10:G36.0","ICD9:341.0"],"information_content":90.9}
{"id":"MONDO:0019101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal capillary malformation","equivalent_identifiers":["MONDO:0019101","orphanet:71213"],"information_content":100.0}
{"id":"MONDO:0019102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome","equivalent_identifiers":["MONDO:0019102","orphanet:71267","UMLS:C4303592","SNOMEDCT:721089006","medgen:929261"],"information_content":100.0}
{"id":"MONDO:0019104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sandifer syndrome","equivalent_identifiers":["MONDO:0019104","orphanet:71272","UMLS:C0338465","MESH:C537234","MEDDRA:10066142","NCIT:C113397","SNOMEDCT:230314007","medgen:90922"],"information_content":100.0}
{"id":"MONDO:0019105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal nutcracker syndrome","equivalent_identifiers":["MONDO:0019105","orphanet:71273","EFO:1001838","UMLS:C3178770","MESH:D059228","SNOMEDCT:717267005","medgen:465238"],"information_content":100.0}
{"id":"MONDO:0019107","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rh deficiency syndrome","equivalent_identifiers":["MONDO:0019107","DOID:0050641","OMIM:268150","orphanet:71275","UMLS:C0272052","UMLS:C1292175","UMLS:C1849387","MESH:C562717","MESH:C564833","SNOMEDCT:115762007","SNOMEDCT:37272000","medgen:75772","icd11.foundation:1554765420"],"information_content":100.0}
{"id":"MONDO:0019108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silent sinus syndrome","equivalent_identifiers":["MONDO:0019108","orphanet:71276","UMLS:C3698095","MEDDRA:10075540","SNOMEDCT:699802009","medgen:785359","icd11.foundation:1204931989"],"information_content":100.0}
{"id":"MONDO:0019111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial thrombocytosis","equivalent_identifiers":["MONDO:0019111","OMIM.PS:187950","orphanet:71493","UMLS:C4303761","SNOMEDCT:720950009","medgen:929430","icd11.foundation:1695088249"],"information_content":90.9}
{"id":"MONDO:0019112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cancer-associated retinopathy","equivalent_identifiers":["MONDO:0019112","orphanet:71505","UMLS:C1321315","UMLS:C3178817","MESH:D059545","MEDDRA:10065311","SNOMEDCT:404663008","medgen:729915","icd11.foundation:1216073790"],"information_content":100.0}
{"id":"MONDO:0019113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign paroxysmal torticollis of infancy","equivalent_identifiers":["MONDO:0019113","orphanet:71518","UMLS:C3494934","SNOMEDCT:719521002","medgen:782128","icd11.foundation:545726308"],"information_content":100.0}
{"id":"MONDO:0019114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pseudodystonia","equivalent_identifiers":["MONDO:0019114","orphanet:71519","UMLS:C0752208","MEDDRA:10072376","SNOMEDCT:1197149002","medgen:155722","icd11.foundation:1905355308"],"information_content":100.0}
{"id":"MONDO:0019115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity due to melanocortin 4 receptor deficiency","equivalent_identifiers":["MONDO:0019115","OMIM:618406","orphanet:71529","UMLS:C4054546","UMLS:C4273958","UMLS:C4759928","UMLS:C5193151","MEDDRA:10084582","MEDDRA:10084593","NCIT:C120394","SNOMEDCT:717269008","medgen:903905"],"information_content":100.0}
{"id":"MONDO:0019118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited retinal dystrophy","equivalent_identifiers":["MONDO:0019118","DOID:8500","DOID:8501","orphanet:71862","UMLS:C0154860","UMLS:C0854723","MESH:D058499","MEDDRA:10019898","MEDDRA:10019899","MEDDRA:10019900","MEDDRA:10038857","NCIT:C35194","NCIT:C35625","SNOMEDCT:314407005","SNOMEDCT:41799005","medgen:208903","ICD9:362.7","HP:0000556"],"information_content":61.2}
{"id":"MONDO:0019120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pili bifurcati","equivalent_identifiers":["MONDO:0019120","orphanet:720","UMLS:C5574653","SNOMEDCT:717360009","medgen:1812698","icd11.foundation:674923489"],"information_content":100.0}
{"id":"MONDO:0019121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pneumocystosis","equivalent_identifiers":["MONDO:0019121","DOID:11339","orphanet:723","EFO:0007448","UMLS:C1535939","MESH:D011020","MEDDRA:10035659","MEDDRA:10035661","MEDDRA:10051460","MEDDRA:10064108","MEDDRA:10073755","NCIT:C3334","SNOMEDCT:415125002","medgen:777048","icd11.foundation:404370038","ICD10:B59","ICD9:136.3","HP:0034286"],"information_content":95.4}
{"id":"MONDO:0019122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic acute eosinophilic pneumonia","equivalent_identifiers":["MONDO:0019122","DOID:9503","orphanet:724","UMLS:C0242459","UMLS:C4518469","MEDDRA:10024794","MEDDRA:10035008","MEDDRA:10052832","MEDDRA:10052835","NCIT:C35301","SNOMEDCT:64936001","SNOMEDCT:724499007","medgen:1371970","icd11.foundation:1455309767","ICD10:J82.89"],"information_content":100.0}
{"id":"MONDO:0019123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"continuous spikes and waves during sleep","equivalent_identifiers":["MONDO:0019123","orphanet:725","UMLS:C5552731","MEDDRA:10078827","MEDDRA:10078828","MEDDRA:10088516","medgen:1790601"],"information_content":100.0}
{"id":"MONDO:0019124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microscopic polyangiitis","equivalent_identifiers":["MONDO:0019124","orphanet:727","EFO:1000784","UMLS:C2347126","MESH:D055953","MEDDRA:10063344","NCIT:C70549","SNOMEDCT:1144805008","SNOMEDCT:239928004","medgen:389393","icd11.foundation:999231798"],"information_content":100.0}
{"id":"MONDO:0019125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"relapsing polychondritis","equivalent_identifiers":["MONDO:0019125","DOID:2556","orphanet:728","EFO:1001148","UMLS:C0032453","UMLS:C2936897","MESH:C537574","MESH:D011081","MEDDRA:10008835","MEDDRA:10038304","NCIT:C157268","SNOMEDCT:72275000","medgen:45995","icd11.foundation:1412888287","ICD10:M94.1"],"information_content":100.0}
{"id":"MONDO:0019127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polymyositis","equivalent_identifiers":["MONDO:0019127","DOID:0080745","orphanet:732","EFO:0003063","UMLS:C0085655","MESH:D017285","MEDDRA:10036102","NCIT:C26925","SNOMEDCT:31384009","medgen:39086","icd11.foundation:1157134196"],"information_content":81.7}
{"id":"MONDO:0019129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"global developmental delay-osteopenia-ectodermal defect syndrome","equivalent_identifiers":["MONDO:0019129","orphanet:73223","UMLS:C4303570","SNOMEDCT:717813005","medgen:929239"],"information_content":100.0}
{"id":"MONDO:0019130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tubular renal disease-cardiomyopathy syndrome","equivalent_identifiers":["MONDO:0019130","orphanet:73224","UMLS:C4304399","SNOMEDCT:719839000","medgen:930068"],"information_content":100.0}
{"id":"MONDO:0019131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ossification anomalies-psychomotor developmental delay syndrome","equivalent_identifiers":["MONDO:0019131","orphanet:73230","UMLS:C4302826","SNOMEDCT:722107005","medgen:928495"],"information_content":100.0}
{"id":"MONDO:0019132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","equivalent_identifiers":["MONDO:0019132","orphanet:73245","UMLS:C4509964","SNOMEDCT:723612001","medgen:1393821"],"information_content":100.0}
{"id":"MONDO:0019133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome","equivalent_identifiers":["MONDO:0019133","orphanet:73246","UMLS:C4304402","SNOMEDCT:719833004","medgen:930071"],"information_content":100.0}
{"id":"MONDO:0019134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neurocytoma","equivalent_identifiers":["MONDO:0019134","DOID:14174","orphanet:73256","EFO:1000856","UMLS:C0206719","UMLS:C1622510","MESH:D018306","MEDDRA:10063564","NCIT:C3791","SNOMEDCT:128858006","medgen:104924","icd11.foundation:1247650801","icd11.foundation:2039766091","HP:0030064"],"information_content":100.0}
{"id":"MONDO:0019136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zygomycosis","equivalent_identifiers":["MONDO:0019136","DOID:8485","orphanet:73263","EFO:0007380","UMLS:C0026718","UMLS:C0043541","UMLS:C0300933","MESH:D009091","MESH:D020096","MEDDRA:10028098","MEDDRA:10048290","MEDDRA:10061418","NCIT:C77212","SNOMEDCT:59277005","SNOMEDCT:76627001","medgen:12207","icd11.foundation:1676389165"],"information_content":90.9}
{"id":"MONDO:0019137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-24-hour sleep-wake syndrome","equivalent_identifiers":["MONDO:0019137","orphanet:73267","UMLS:C0393772","UMLS:C0751759","MEDDRA:10078086","SNOMEDCT:230496009","medgen:148383"],"information_content":100.0}
{"id":"MONDO:0019141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porokeratosis of Mibelli","equivalent_identifiers":["MONDO:0019141","orphanet:735","UMLS:C0949506","SNOMEDCT:80432009","medgen:181842"],"information_content":92.8}
{"id":"MONDO:0019143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiostrongyliasis","equivalent_identifiers":["MONDO:0019143","DOID:0050256","orphanet:74","UMLS:C0392662","UMLS:C4316792","MESH:C536369","MEDDRA:10069517","NCIT:C128394","SNOMEDCT:61750000","medgen:98230","icd11.foundation:1768378720"],"information_content":100.0}
{"id":"MONDO:0019144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary thrombophilia due to congenital protein S deficiency","equivalent_identifiers":["MONDO:0019144","DOID:0111905","orphanet:743","UMLS:C2584611","SNOMEDCT:439702007","medgen:748876","icd11.foundation:1305244529"],"information_content":92.8}
{"id":"MONDO:0019145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary thrombophilia due to congenital protein C deficiency","equivalent_identifiers":["MONDO:0019145","DOID:3756","orphanet:745","EFO:0009316","UMLS:C0398625","UMLS:C0598221","UMLS:C2930896","MESH:C535424","MESH:D020151","MEDDRA:10051298","NCIT:C99025","SNOMEDCT:439274008","SNOMEDCT:76407009","medgen:671121","icd11.foundation:2021932081","HP:0005543"],"information_content":92.8}
{"id":"MONDO:0019148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wolman disease","equivalent_identifiers":["MONDO:0019148","DOID:14497","OMIM:620151","orphanet:75233","UMLS:C0043208","UMLS:C5574741","MESH:C564736","MESH:D015223","MEDDRA:10053687","NCIT:C61271","SNOMEDCT:238074007","SNOMEDCT:82500001","medgen:53088","icd11.foundation:520367511"],"information_content":100.0}
{"id":"MONDO:0019149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholesteryl ester storage disease","equivalent_identifiers":["MONDO:0019149","DOID:14502","OMIM:278000","orphanet:75234","UMLS:C0008384","MESH:D015217","MEDDRA:10077268","SNOMEDCT:57218003","medgen:40266","icd11.foundation:894336362"],"information_content":100.0}
{"id":"MONDO:0019151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligocone trichromacy","equivalent_identifiers":["MONDO:0019151","orphanet:75378","UMLS:C4302876","SNOMEDCT:722066001","medgen:928545","icd11.foundation:645985320"],"information_content":100.0}
{"id":"MONDO:0019152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oguchi disease","equivalent_identifiers":["MONDO:0019152","orphanet:75382","UMLS:C1306122","MESH:C537743","medgen:224927","icd11.foundation:1759055065"],"information_content":92.8}
{"id":"MONDO:0019153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain malformation-congenital heart disease-postaxial polydactyly syndrome","equivalent_identifiers":["MONDO:0019153","orphanet:75389","UMLS:C4303545","SNOMEDCT:717943008","medgen:929214"],"information_content":100.0}
{"id":"MONDO:0019154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"androgen insensitivity syndrome","equivalent_identifiers":["MONDO:0019154","DOID:4674","OMIM:300068","orphanet:754","UMLS:C0039585","MESH:D013734","MEDDRA:10056292","NCIT:C27226","SNOMEDCT:12313004","medgen:21102","ICD10:E34.5","ICD9:259.51"],"information_content":89.4}
{"id":"MONDO:0019155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leydig cell hypoplasia","equivalent_identifiers":["MONDO:0019155","DOID:0112259","orphanet:755","UMLS:C0860158","UMLS:C4023702","MESH:C562567","MEDDRA:10024406","medgen:449533","icd11.foundation:472787488","HP:0010790"],"information_content":89.4}
{"id":"MONDO:0019156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioosteohypotrophic syndrome","equivalent_identifiers":["MONDO:0019156","orphanet:75508","UMLS:C4707561","SNOMEDCT:765750001","medgen:1641209"],"information_content":100.0}
{"id":"MONDO:0019157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelodysplastic syndrome with ring sideroblasts","equivalent_identifiers":["MONDO:0019157","orphanet:75564","EFO:0003812","UMLS:C1264195","UMLS:C2826330","UMLS:C4016601","UMLS:C4330726","MEDDRA:10038272","MEDDRA:10054594","MEDDRA:10088024","NCIT:C130037","NCIT:C4036","NCIT:C82616","SNOMEDCT:109998009","SNOMEDCT:128846006","medgen:865038","icd11.foundation:1793160341","HP:0004828"],"information_content":92.8}
{"id":"MONDO:0019158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tropical endomyocardial fibrosis","equivalent_identifiers":["MONDO:0019158","orphanet:75565","UMLS:C2882252","SNOMEDCT:715626008","medgen:909153"],"information_content":100.0}
{"id":"MONDO:0019159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Loeffler endocarditis","equivalent_identifiers":["MONDO:0019159","DOID:396","orphanet:75566","UMLS:C0206143","UMLS:C0264834","MEDDRA:10014953","MEDDRA:10052841","NCIT:C27044","SNOMEDCT:33258008","SNOMEDCT:449829009","medgen:104788","icd11.foundation:1223390562","ICD10:I42.3"],"information_content":95.4}
{"id":"MONDO:0019160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary progressive freezing gait","equivalent_identifiers":["MONDO:0019160","orphanet:75567","UMLS:C4275078","SNOMEDCT:715627004","medgen:894846","icd11.foundation:431694225"],"information_content":100.0}
{"id":"MONDO:0019162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoaldosteronism type 2","equivalent_identifiers":["MONDO:0019162","OMIM.PS:145260","orphanet:757","UMLS:C1449844","MEDDRA:10090551","MEDDRA:10090553","NCIT:C123252","SNOMEDCT:15689008","medgen:259599","icd11.foundation:715347509"],"information_content":88.2}
{"id":"MONDO:0019164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"6q terminal deletion syndrome","equivalent_identifiers":["MONDO:0019164","orphanet:75857","UMLS:C4304514","SNOMEDCT:719666002","medgen:930183"],"information_content":100.0}
{"id":"MONDO:0019167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgA vasculitis","equivalent_identifiers":["MONDO:0019167","DOID:11123","orphanet:761","EFO:1000965","UMLS:C0034152","MESH:D011695","MEDDRA:10001716","MEDDRA:10001735","MEDDRA:10002214","MEDDRA:10002215","MEDDRA:10002217","MEDDRA:10019615","MEDDRA:10019616","MEDDRA:10019617","MEDDRA:10037551","MEDDRA:10037552","MEDDRA:10037565","MEDDRA:10039658","MEDDRA:10082959","NCIT:C34963","SNOMEDCT:191306005","SNOMEDCT:86074002","medgen:48265","icd11.foundation:1629105375","ICD10:D69.0","ICD9:287.0"],"information_content":100.0}
{"id":"MONDO:0019168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyomyositis","equivalent_identifiers":["MONDO:0019168","DOID:876","orphanet:764","EFO:1001409","UMLS:C0041188","UMLS:C1704275","MESH:D052880","MEDDRA:10037652","MEDDRA:10044695","NCIT:C128382","SNOMEDCT:65110003","medgen:52862","icd11.foundation:856598467","ICD10:M60.0","ICD9:040.81"],"information_content":100.0}
{"id":"MONDO:0019169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyruvate dehydrogenase deficiency","equivalent_identifiers":["MONDO:0019169","DOID:3649","OMIM.PS:312170","orphanet:765","EFO:0007459","UMLS:C0034345","MESH:D015325","MEDDRA:10084109","NCIT:C103968","SNOMEDCT:46683007","medgen:19610","icd11.foundation:1124597954","ICD10:E74.4"],"information_content":86.3}
{"id":"MONDO:0019170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyarteritis nodosa","equivalent_identifiers":["MONDO:0019170","DOID:9810","orphanet:767","EFO:0009012","UMLS:C0031036","MESH:D010488","MEDDRA:10009235","MEDDRA:10023500","MEDDRA:10033569","MEDDRA:10034462","MEDDRA:10036024","MEDDRA:10036027","NCIT:C26847","SNOMEDCT:155441006","medgen:14681","icd11.foundation:1419332129","ICD10:M30","ICD10:M30.0","ICD9:446.0"],"information_content":88.2}
{"id":"MONDO:0019171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial long QT syndrome","equivalent_identifiers":["MONDO:0019171","OMIM.PS:192500","orphanet:101016","orphanet:768","UMLS:C1141890","MEDDRA:10057926","SNOMEDCT:442917000","medgen:685787","icd11.foundation:1208831985"],"information_content":78.5}
{"id":"MONDO:0019172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia","equivalent_identifiers":["MONDO:0019172","DOID:12271","UMLS:C0003076","MESH:D015783","MEDDRA:10002532","NCIT:C84563","SNOMEDCT:69278003","medgen:1941","icd11.foundation:970699895","ICD10:Q13.1","ICD9:743.45","HP:0000526"],"information_content":87.2}
{"id":"MONDO:0019173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rabies","equivalent_identifiers":["MONDO:0019173","DOID:11260","orphanet:770","UMLS:C0034494","MESH:D011818","MEDDRA:10037742","MEDDRA:10037743","MEDDRA:10037744","NCIT:C28182","SNOMEDCT:14168008","medgen:48308","icd11.foundation:854762584","ICD10:A82","ICD9:071"],"information_content":100.0}
{"id":"MONDO:0019177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontoleukodystrophy","equivalent_identifiers":["MONDO:0019177","orphanet:77295","UMLS:C3502054","MESH:C564344","SNOMEDCT:722064003","medgen:502456"],"information_content":100.0}
{"id":"MONDO:0019178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome","equivalent_identifiers":["MONDO:0019178","orphanet:77300","UMLS:C4518478","SNOMEDCT:725149008","medgen:1378358"],"information_content":100.0}
{"id":"MONDO:0019179","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monosomy 9q22.3","equivalent_identifiers":["MONDO:0019179","orphanet:77301","UMLS:C3711390","MESH:C579873","SNOMEDCT:724098008","medgen:777998"],"information_content":100.0}
{"id":"MONDO:0019180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary hemorrhagic telangiectasia","equivalent_identifiers":["MONDO:0019180","DOID:1270","OMIM.PS:187300","orphanet:774","UMLS:C0039445","MESH:D013683","MEDDRA:10019883","MEDDRA:10019887","MEDDRA:10031132","MEDDRA:10038554","NCIT:C35064","SNOMEDCT:21877004","medgen:52657","icd11.foundation:714406192","ICD10:I78.0","ICD9:448.0"],"information_content":88.2}
{"id":"MONDO:0019181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-syndromic X-linked intellectual disability","equivalent_identifiers":["MONDO:0019181","DOID:0050776","OMIM.PS:309530","orphanet:777","UMLS:C3501611","MESH:C564490","medgen:502019"],"information_content":73.8}
{"id":"MONDO:0019182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thinness","equivalent_identifiers":["MONDO:0019182","OMIM:601665","orphanet:77828","UMLS:C0039870","UMLS:C1850573","UMLS:C4054476","MESH:D013851","NCIT:C120382","SNOMEDCT:61294007","medgen:885912","HP:0001533"],"information_content":86.3}
{"id":"MONDO:0019186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Q fever","equivalent_identifiers":["MONDO:0019186","DOID:11100","orphanet:781","EFO:0005224","UMLS:C0034362","MESH:D011778","MEDDRA:10011250","MEDDRA:10037688","MEDDRA:10037692","MEDDRA:10067588","NCIT:C34970","SNOMEDCT:186788009","medgen:48290","icd11.foundation:2113860626","ICD10:A78","ICD9:083.0"],"information_content":100.0}
{"id":"MONDO:0019187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rieger syndrome","equivalent_identifiers":["MONDO:0019187","DOID:14686","OMIM.PS:180500","orphanet:782","UMLS:C0265341","UMLS:C3495488","MESH:C535679","MEDDRA:10059197","MEDDRA:10059198","MEDDRA:10059255","NCIT:C131001","SNOMEDCT:417604002","SNOMEDCT:47507006","medgen:501192","ICD10:Q13.81","HP:0000558"],"information_content":90.9}
{"id":"MONDO:0019188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rubinstein-Taybi syndrome","equivalent_identifiers":["MONDO:0019188","DOID:1933","OMIM.PS:180849","orphanet:783","UMLS:C0035934","MESH:D012415","MEDDRA:10039281","NCIT:C75466","SNOMEDCT:45582004","medgen:48517","icd11.foundation:692585833"],"information_content":88.2}
{"id":"MONDO:0019191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG4-related dacryoadenitis and sialadenitis","equivalent_identifiers":["MONDO:0019191","DOID:12900","orphanet:79078","UMLS:C0026103","MESH:D008882","MEDDRA:10051457","MEDDRA:10052317","NCIT:C34819","SNOMEDCT:7826003","medgen:6399","icd11.foundation:796087277"],"information_content":95.4}
{"id":"MONDO:0019192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AKT2-related familial partial lipodystrophy","equivalent_identifiers":["MONDO:0019192","orphanet:79085","UMLS:C5680134","SNOMEDCT:1197746001","medgen:1810936"],"information_content":100.0}
{"id":"MONDO:0019193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired generalized lipodystrophy","equivalent_identifiers":["MONDO:0019193","DOID:0080300","orphanet:79086","UMLS:C0271693","MEDDRA:10087376","MEDDRA:10087379","NCIT:C131089","SNOMEDCT:86907008","medgen:543499"],"information_content":100.0}
{"id":"MONDO:0019195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome","equivalent_identifiers":["MONDO:0019195","orphanet:79091","UMLS:C4510610","SNOMEDCT:724349009","medgen:1382737"],"information_content":100.0}
{"id":"MONDO:0019196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Foix-Alajouanine syndrome","equivalent_identifiers":["MONDO:0019196","orphanet:79093","UMLS:C0472347","MEDDRA:10086135","MEDDRA:10086136","SNOMEDCT:230379007","medgen:141629","icd11.foundation:937824238"],"information_content":100.0}
{"id":"MONDO:0019197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"folinic acid-responsive seizures","equivalent_identifiers":["MONDO:0019197","orphanet:79097","UMLS:C4273952","SNOMEDCT:717276003","medgen:908191","icd11.foundation:723504178"],"information_content":100.0}
{"id":"MONDO:0019198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sympathetic ophthalmia","equivalent_identifiers":["MONDO:0019198","DOID:12029","orphanet:79098","EFO:1001205","UMLS:C0029077","MESH:D009879","MEDDRA:10042742","MEDDRA:10042743","MEDDRA:10042745","SNOMEDCT:75315001","medgen:45203","icd11.foundation:1639718137","ICD10:H44.13","ICD9:360.11"],"information_content":100.0}
{"id":"MONDO:0019199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interstitial granulomatous dermatitis with arthritis","equivalent_identifiers":["MONDO:0019199","orphanet:79099","UMLS:C4751206","SNOMEDCT:773732005","medgen:1658052"],"information_content":100.0}
{"id":"MONDO:0019200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa","equivalent_identifiers":["MONDO:0019200","DOID:10584","OMIM:268000","OMIM.PS:268000","orphanet:791","UMLS:C0035334","UMLS:C4551714","MESH:D012174","MEDDRA:10038914","NCIT:C85045","SNOMEDCT:28835009","medgen:20551","ICD10:H35.52","HP:0000510"],"information_content":69.6}
{"id":"MONDO:0019201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyrotoxic periodic paralysis","equivalent_identifiers":["MONDO:0019201","OMIM.PS:188580","orphanet:79102","UMLS:C0268446","MEDDRA:10043788","SNOMEDCT:30967002","medgen:120639","icd11.foundation:1457837313"],"information_content":90.9}
{"id":"MONDO:0019202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myxofibrosarcoma","equivalent_identifiers":["MONDO:0019202","DOID:0080534","orphanet:79105","UMLS:C0334454","UMLS:C3714524","MEDDRA:10066948","NCIT:C38106","NCIT:C6496","SNOMEDCT:253042009","SNOMEDCT:703609007","medgen:811359","icd11.foundation:405689402"],"information_content":86.3}
{"id":"MONDO:0019203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute interstitial pneumonia","equivalent_identifiers":["MONDO:0019203","DOID:2800","orphanet:79126","UMLS:C0085786","UMLS:C1279945","MESH:D000080203","MEDDRA:10019107","MEDDRA:10021225","MEDDRA:10066728","MEDDRA:10078268","NCIT:C35806","SNOMEDCT:236302005","medgen:39340","icd11.foundation:2116884221","ICD9:516.33"],"information_content":100.0}
{"id":"MONDO:0019204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RB-ILD","equivalent_identifiers":["MONDO:0019204","orphanet:79127","UMLS:C1735355","MEDDRA:10066394","medgen:1672485","icd11.foundation:822500243"],"information_content":100.0}
{"id":"MONDO:0019205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichodysplasia-amelogenesis imperfecta syndrome","equivalent_identifiers":["MONDO:0019205","orphanet:79129","UMLS:C4304344","SNOMEDCT:719911000","medgen:930013"],"information_content":100.0}
{"id":"MONDO:0019207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DEND syndrome","equivalent_identifiers":["MONDO:0019207","orphanet:79134","UMLS:C4303593","NCIT:C131845","SNOMEDCT:721088003","medgen:929262"],"information_content":90.9}
{"id":"MONDO:0019208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bickerstaff brainstem encephalitis","equivalent_identifiers":["MONDO:0019208","orphanet:79138","UMLS:C1960543","MEDDRA:10076985","MEDDRA:10077247","SNOMEDCT:427086003","medgen:743311","icd11.foundation:163316971"],"information_content":100.0}
{"id":"MONDO:0019209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Japanese encephalitis","equivalent_identifiers":["MONDO:0019209","DOID:10844","orphanet:79139","EFO:0007332","UMLS:C0014057","MESH:D004672","MEDDRA:10014596","MEDDRA:10023119","MEDDRA:10023120","MEDDRA:10023123","NCIT:C34577","SNOMEDCT:52947006","medgen:4032","icd11.foundation:961032639","ICD10:A83.0","ICD9:062.0"],"information_content":100.0}
{"id":"MONDO:0019210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous neuroendocrine carcinoma","equivalent_identifiers":["MONDO:0019210","orphanet:79140","EFO:1001471","UMLS:C0007129","MESH:D015266","MEDDRA:10029266","MEDDRA:10064025","NCIT:C9231","SNOMEDCT:253001006","SNOMEDCT:254729005","SNOMEDCT:5052009","medgen:2843","icd11.foundation:680322043","HP:0030447"],"information_content":74.5}
{"id":"MONDO:0019212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disseminated superficial actinic porokeratosis","equivalent_identifiers":["MONDO:0019212","orphanet:79152","UMLS:C0265970","MEDDRA:10085766","SNOMEDCT:41495000","medgen:120561","icd11.foundation:1828294192"],"information_content":86.3}
{"id":"MONDO:0019257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemochromatosis type 2","equivalent_identifiers":["MONDO:0019257","DOID:0111034","orphanet:79230","UMLS:C0268060","MESH:C537247","SNOMEDCT:50855007","medgen:82769"],"information_content":92.8}
{"id":"MONDO:0019258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mild PKU","equivalent_identifiers":["MONDO:0019258","orphanet:79253","UMLS:C5680203","medgen:1842357"],"information_content":100.0}
{"id":"MONDO:0019259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic phenylketonuria","equivalent_identifiers":["MONDO:0019259","orphanet:79254","UMLS:C0751434","UMLS:C4025094","MEDDRA:10034875","NCIT:C117117","medgen:199655","icd11.foundation:2084504393","HP:0005982"],"information_content":100.0}
{"id":"MONDO:0019263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal erythropoietic protoporphyria","equivalent_identifiers":["MONDO:0019263","orphanet:79278"],"information_content":92.8}
{"id":"MONDO:0019264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-N-acetylgalactosaminidase deficiency type 3","equivalent_identifiers":["MONDO:0019264","DOID:0112320","orphanet:79281","UMLS:C5437471","SNOMEDCT:880066000","medgen:1772900","icd11.foundation:1639349183"],"information_content":100.0}
{"id":"MONDO:0019266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SAPHO syndrome","equivalent_identifiers":["MONDO:0019266","DOID:13677","orphanet:793","EFO:1001164","UMLS:C0263859","MESH:D020083","MEDDRA:10051316","NCIT:C119049","NCIT:C84530","SNOMEDCT:60684003","medgen:120490","icd11.foundation:1901494067"],"information_content":100.0}
{"id":"MONDO:0019267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin B12-unresponsive methylmalonic acidemia type mut-","equivalent_identifiers":["MONDO:0019267","orphanet:79312","UMLS:C0342719","SNOMEDCT:237946002","medgen:575192"],"information_content":100.0}
{"id":"MONDO:0019269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis","equivalent_identifiers":["MONDO:0019269","DOID:1697","orphanet:79354","UMLS:C0020757","MESH:D007057","MEDDRA:10021197","MEDDRA:10021198","MEDDRA:10040812","NCIT:C84776","SNOMEDCT:782957005","medgen:7002","HP:0008064"],"information_content":72.3}
{"id":"MONDO:0019280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrichosis","equivalent_identifiers":["MONDO:0019280","DOID:420","orphanet:79365","UMLS:C0020555","UMLS:C4732731","MESH:D006983","MEDDRA:10020863","MEDDRA:10020864","MEDDRA:10086660","NCIT:C79597","SNOMEDCT:271607001","SNOMEDCT:29966009","medgen:43787","icd11.foundation:2042627850","ICD10:L68","HP:0000998"],"information_content":79.3}
{"id":"MONDO:0019287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia syndrome","equivalent_identifiers":["MONDO:0019287","DOID:2121","OMIM.PS:305100","orphanet:79373","UMLS:C0013575","MESH:D004476","MEDDRA:10010452","NCIT:C84683","SNOMEDCT:254154003","SNOMEDCT:8654005","medgen:8544","icd11.foundation:1156567558","ICD9:757.31","HP:0000968"],"information_content":65.0}
{"id":"MONDO:0019289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperpigmentation of the skin","equivalent_identifiers":["MONDO:0019289","orphanet:79375","UMLS:C0162834","UMLS:C0221436","MESH:D017495","MEDDRA:10020713","MEDDRA:10020715","MEDDRA:10027146","MEDDRA:10027147","MEDDRA:10040865","MEDDRA:10050574","MEDDRA:10084301","NCIT:C79731","SNOMEDCT:4830009","SNOMEDCT:49238001","SNOMEDCT:49765009","medgen:57992","HP:0000953"],"information_content":69.3}
{"id":"MONDO:0019290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypopigmentation of the skin","equivalent_identifiers":["MONDO:0019290","orphanet:79376","UMLS:C0162835","MESH:D017496","MEDDRA:10021064","MEDDRA:10040868","MEDDRA:10050575","NCIT:C78610","SNOMEDCT:18655006","SNOMEDCT:201284005","SNOMEDCT:89031001","medgen:102477","HP:0001010"],"information_content":70.5}
{"id":"MONDO:0019293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin vascular disease","equivalent_identifiers":["MONDO:0019293","DOID:9540","orphanet:79379","UMLS:C0162819","UMLS:C1842892","MESH:D017445","MEDDRA:10047043","MEDDRA:10047109","MEDDRA:10062171","NCIT:C35254","SNOMEDCT:11263005","medgen:102473","HP:0011276"],"information_content":69.7}
{"id":"MONDO:0019297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphedema","equivalent_identifiers":["MONDO:0019297","DOID:4977","UMLS:C0024236","UMLS:C0240278","UMLS:C1835229","MESH:D008209","MEDDRA:10025233","MEDDRA:10025282","MEDDRA:10025284","MEDDRA:10052315","MEDDRA:10052790","MEDDRA:10087604","NCIT:C3207","SNOMEDCT:234097001","SNOMEDCT:30213001","medgen:6155","HP:0001004"],"information_content":72.5}
{"id":"MONDO:0019306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Harlequin Fetus","equivalent_identifiers":["MONDO:0019306","orphanet:79394","UMLS:C0079154","UMLS:C0239849","MEDDRA:10019162","MEDDRA:10019163","SNOMEDCT:205550003","SNOMEDCT:267372009","SNOMEDCT:268245001","medgen:38180","icd11.foundation:546439698","HP:0007479"],"information_content":87.2}
{"id":"MONDO:0019307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized junctional epidermolysis bullosa non-Herlitz type","equivalent_identifiers":["MONDO:0019307","DOID:0060738","orphanet:79402","UMLS:C0432326","SNOMEDCT:254196004","SNOMEDCT:724225008","medgen:609458"],"information_content":100.0}
{"id":"MONDO:0019308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"junctional epidermolysis bullosa inversa","equivalent_identifiers":["MONDO:0019308","orphanet:79405","UMLS:C2673609","MESH:C535958","medgen:382142","icd11.foundation:1191822552"],"information_content":100.0}
{"id":"MONDO:0019309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late-onset junctional epidermolysis bullosa","equivalent_identifiers":["MONDO:0019309","orphanet:79406","UMLS:C4304724","SNOMEDCT:719432000","medgen:930393"],"information_content":100.0}
{"id":"MONDO:0019310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recessive dystrophic epidermolysis bullosa inversa","equivalent_identifiers":["MONDO:0019310","orphanet:79409","UMLS:C1275113","SNOMEDCT:403809003","medgen:698413","icd11.foundation:495465277"],"information_content":100.0}
{"id":"MONDO:0019311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wooly hair nevus","equivalent_identifiers":["MONDO:0019311","orphanet:79414","UMLS:C0343114","SNOMEDCT:239124001","medgen:575391"],"information_content":100.0}
{"id":"MONDO:0019312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hermansky-Pudlak syndrome","equivalent_identifiers":["MONDO:0019312","DOID:3753","OMIM.PS:203300","orphanet:79430","UMLS:C0079504","MESH:D022861","MEDDRA:10071775","NCIT:C37261","SNOMEDCT:9311003","medgen:36313","icd11.foundation:2089801290","ICD10:E70.331"],"information_content":82.1}
{"id":"MONDO:0019314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous mastocytoma","equivalent_identifiers":["MONDO:0019314","orphanet:79455","UMLS:C0343115","SNOMEDCT:239147000","SNOMEDCT:397013007","SNOMEDCT:703836007","medgen:83357","icd11.foundation:1853236564"],"information_content":95.4}
{"id":"MONDO:0019315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse cutaneous mastocytosis","equivalent_identifiers":["MONDO:0019315","DOID:3665","orphanet:79456","UMLS:C0024901","MEDDRA:10012812","NCIT:C3218","SNOMEDCT:703826004","medgen:44303","icd11.foundation:193128939"],"information_content":92.8}
{"id":"MONDO:0019316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maculopapular cutaneous mastocytosis","equivalent_identifiers":["MONDO:0019316","DOID:12309","orphanet:79457","EFO:1001229","UMLS:C0042111","MESH:D014582","MEDDRA:10046752","NCIT:C3433","SNOMEDCT:1332134000","SNOMEDCT:78745000","medgen:22588","icd11.foundation:245322245","ICD10:D47.01"],"information_content":89.4}
{"id":"MONDO:0019319","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"verrucous nevus","equivalent_identifiers":["MONDO:0019319","orphanet:79467","UMLS:C0362030","NCIT:C4674","SNOMEDCT:398723007","medgen:83927","HP:0034275"],"information_content":100.0}
{"id":"MONDO:0019321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical Werner syndrome","equivalent_identifiers":["MONDO:0019321","orphanet:79474","UMLS:C4275075","SNOMEDCT:715633008","medgen:894770","icd11.foundation:1661142154"],"information_content":100.0}
{"id":"MONDO:0019323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pemphigus erythematosus","equivalent_identifiers":["MONDO:0019323","orphanet:79480","EFO:0008603","UMLS:C0263312","MEDDRA:10034281","MEDDRA:10058917","SNOMEDCT:36739006","medgen:537812","icd11.foundation:399813106"],"information_content":100.0}
{"id":"MONDO:0019324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pemphigus foliaceus","equivalent_identifiers":["MONDO:0019324","DOID:0080850","orphanet:79481","EFO:0008601","UMLS:C0263313","MEDDRA:10057054","MEDDRA:10057069","SNOMEDCT:35154004","medgen:75513","icd11.foundation:24246260","ICD10:L10.2"],"information_content":95.4}
{"id":"MONDO:0019325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phakomatosis cesioflammea","equivalent_identifiers":["MONDO:0019325","orphanet:79483","UMLS:C3838883","SNOMEDCT:703284009","medgen:824729"],"information_content":100.0}
{"id":"MONDO:0019326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phakomatosis cesiomarmorata","equivalent_identifiers":["MONDO:0019326","orphanet:79484","UMLS:C3839296","SNOMEDCT:703286006","medgen:825141"],"information_content":100.0}
{"id":"MONDO:0019330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pili gemini","equivalent_identifiers":["MONDO:0019330","orphanet:79492","UMLS:C0019571","MESH:C537188","SNOMEDCT:42829009","medgen:42460"],"information_content":100.0}
{"id":"MONDO:0019332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"punctate palmoplantar keratoderma type 1","equivalent_identifiers":["MONDO:0019332","orphanet:79501","UMLS:C1835662","MESH:C536161","SNOMEDCT:717184007","medgen:372099"],"information_content":92.8}
{"id":"MONDO:0019333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive hyperinsulinism due to SUR1 deficiency","equivalent_identifiers":["MONDO:0019333","orphanet:79643","UMLS:C5191077","SNOMEDCT:783767001","medgen:1683144"],"information_content":100.0}
{"id":"MONDO:0019334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive hyperinsulinism due to Kir6.2 deficiency","equivalent_identifiers":["MONDO:0019334","orphanet:79644","UMLS:C5191078","SNOMEDCT:783768006","medgen:1677653"],"information_content":100.0}
{"id":"MONDO:0019335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mild HPA","equivalent_identifiers":["MONDO:0019335","orphanet:79651","UMLS:C5680207","medgen:1843033"],"information_content":100.0}
{"id":"MONDO:0019338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sarcoidosis","equivalent_identifiers":["MONDO:0019338","DOID:11335","orphanet:797","UMLS:C0036202","MESH:D012507","MEDDRA:10039485","MEDDRA:10039486","MEDDRA:10039490","MEDDRA:10054039","MEDDRA:10054078","MEDDRA:10054079","NCIT:C34995","SNOMEDCT:31541009","medgen:48554","icd11.foundation:330792642","ICD10:D86","ICD9:135"],"information_content":83.1}
{"id":"MONDO:0019339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"47,XYY syndrome","equivalent_identifiers":["MONDO:0019339","orphanet:8","UMLS:C3266843","MESH:C535317","MEDDRA:10056894","NCIT:C85237","SNOMEDCT:50749006","medgen:473794"],"information_content":90.9}
{"id":"MONDO:0019340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scleroderma","equivalent_identifiers":["MONDO:0019340","DOID:419","orphanet:801","EFO:1001993","UMLS:C0011644","UMLS:C1274865","MEDDRA:10012517","MEDDRA:10039710","NCIT:C26746","SNOMEDCT:267874003","SNOMEDCT:403524003","medgen:3770","HP:0100324"],"information_content":81.7}
{"id":"MONDO:0019342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome","equivalent_identifiers":["MONDO:0019342","DOID:0050569","OMIM.PS:210600","orphanet:808","UMLS:C0265202","MEDDRA:10090776","NCIT:C125488","SNOMEDCT:57917004","medgen:78534","icd11.foundation:952199295","ICD10:Q87.1"],"information_content":83.1}
{"id":"MONDO:0019344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"antisynthetase syndrome","equivalent_identifiers":["MONDO:0019344","DOID:0080744","orphanet:81","EFO:1001982","UMLS:C2609059","MESH:C537778","MEDDRA:10068801","SNOMEDCT:445187004","medgen:388567","icd11.foundation:1572057936"],"information_content":100.0}
{"id":"MONDO:0019345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"shigellosis","equivalent_identifiers":["MONDO:0019345","DOID:12385","orphanet:810","EFO:0005585","UMLS:C0013371","UMLS:C0302358","UMLS:C0302359","UMLS:C0302360","UMLS:C1527298","MESH:D004405","MEDDRA:10003972","MEDDRA:10017915","MEDDRA:10040549","MEDDRA:10040550","MEDDRA:10040553","MEDDRA:10040554","MEDDRA:10054178","NCIT:C157978","SNOMEDCT:111817006","SNOMEDCT:274081004","SNOMEDCT:34335000","SNOMEDCT:36188001","SNOMEDCT:55760004","SNOMEDCT:66301008","medgen:8513","icd11.foundation:2080365623","ICD10:A03","ICD10:A03.0","ICD10:A03.1","ICD10:A03.2","ICD9:004","ICD9:004.0","ICD9:004.1","ICD9:004.2","KEGG.DISEASE:05131"],"information_content":100.0}
{"id":"MONDO:0019346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sialidosis type 1","equivalent_identifiers":["MONDO:0019346","orphanet:812","UMLS:C0023806","SNOMEDCT:34960006","SNOMEDCT:723675006","medgen:44174","icd11.foundation:1154773192"],"information_content":100.0}
{"id":"MONDO:0019349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sotos syndrome","equivalent_identifiers":["MONDO:0019349","DOID:0112103","DOID:14748","OMIM:117550","orphanet:821","UMLS:C0175695","MESH:D058495","MEDDRA:10064387","MEDDRA:10064388","NCIT:C75019","SNOMEDCT:75968004","medgen:61232","icd11.foundation:1887392960"],"information_content":92.8}
{"id":"MONDO:0019350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary spherocytosis","equivalent_identifiers":["MONDO:0019350","DOID:12971","orphanet:822","UMLS:C0037889","MESH:D013103","MEDDRA:10002079","MEDDRA:10019904","MEDDRA:10041509","MEDDRA:10054633","MEDDRA:10055201","MEDDRA:10080224","NCIT:C97074","SNOMEDCT:55995005","medgen:52450","icd11.foundation:1305248013","ICD10:D58.0","ICD9:282.0"],"information_content":87.2}
{"id":"MONDO:0019353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stargardt disease","equivalent_identifiers":["MONDO:0019353","DOID:0050817","orphanet:827","UMLS:C0271093","MESH:D000080362","MEDDRA:10062766","NCIT:C85078","SNOMEDCT:47673003","SNOMEDCT:70099003","medgen:75734","icd11.foundation:1690038580"],"information_content":90.9}
{"id":"MONDO:0019354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stickler syndrome","equivalent_identifiers":["MONDO:0019354","DOID:0080046","OMIM.PS:108300","orphanet:828","UMLS:C0265253","MEDDRA:10063402","NCIT:C74984","SNOMEDCT:78675000","medgen:120521","icd11.foundation:246271691"],"information_content":87.2}
{"id":"MONDO:0019355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset Still disease","equivalent_identifiers":["MONDO:0019355","DOID:14256","orphanet:829","EFO:0007135","UMLS:C0085253","MESH:D016706","MEDDRA:10064056","MEDDRA:10079455","MEDDRA:10079456","NCIT:C197832","SNOMEDCT:239920006","SNOMEDCT:68190001","medgen:39007","icd11.foundation:549009522","ICD10:M06.1"],"information_content":100.0}
{"id":"MONDO:0019358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy due to sulfite oxidase deficiency","equivalent_identifiers":["MONDO:0019358","orphanet:833","UMLS:C4275019","SNOMEDCT:715980003","medgen:894927","icd11.foundation:681037681"],"information_content":88.2}
{"id":"MONDO:0019365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scrub typhus","equivalent_identifiers":["MONDO:0019365","DOID:13371","orphanet:83317","EFO:0007480","UMLS:C0036472","MESH:D012612","MEDDRA:10039132","MEDDRA:10039766","MEDDRA:10044719","SNOMEDCT:271425001","medgen:48591","icd11.foundation:1695340384","ICD10:A75.3","ICD9:081.2"],"information_content":100.0}
{"id":"MONDO:0019366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"free sialic acid storage disease","equivalent_identifiers":["MONDO:0019366","orphanet:834","UMLS:C0349711","UMLS:C2931872","MESH:C538523","SNOMEDCT:278991002","medgen:419512","icd11.foundation:1817428569"],"information_content":89.4}
{"id":"MONDO:0019367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Odontodysplasia","equivalent_identifiers":["MONDO:0019367","orphanet:83450","UMLS:C0206554","UMLS:C2981132","MESH:D018126","SNOMEDCT:66063001","SNOMEDCT:67504007","medgen:104891","icd11.foundation:1516505714","HP:0000694"],"information_content":100.0}
{"id":"MONDO:0019368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"florid cemento-osseous dysplasia","equivalent_identifiers":["MONDO:0019368","orphanet:83451","UMLS:C0555197","UMLS:C3698372","MESH:C537063","NCIT:C173929","NCIT:C8381","SNOMEDCT:63937004","SNOMEDCT:699228001","SNOMEDCT:715634002","medgen:107519","icd11.foundation:2031259585"],"information_content":100.0}
{"id":"MONDO:0019369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex regional pain syndrome","equivalent_identifiers":["MONDO:0019369","DOID:3223","orphanet:83452","EFO:1001998","UMLS:C0458219","MESH:D020918","MEDDRA:10064332","SNOMEDCT:128200000","medgen:96846","icd11.foundation:1834504950"],"information_content":90.9}
{"id":"MONDO:0019370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvovaginal gingival syndrome","equivalent_identifiers":["MONDO:0019370","orphanet:83453","UMLS:C3873472","SNOMEDCT:707250009","medgen:848586","icd11.foundation:997964040"],"information_content":100.0}
{"id":"MONDO:0019371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"narcolepsy without cataplexy","equivalent_identifiers":["MONDO:0019371","orphanet:83465","EFO:0005855","UMLS:C1456240","NCIT:C196016","SNOMEDCT:91521000119104","medgen:781102","icd11.foundation:1494673323"],"information_content":100.0}
{"id":"MONDO:0019372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bone Cysts","equivalent_identifiers":["MONDO:0019372","orphanet:83468","UMLS:C0005937","MESH:D001845","MEDDRA:10005952","MEDDRA:10005953","MEDDRA:10011742","MEDDRA:10011743","MEDDRA:10041309","NCIT:C2904","SNOMEDCT:112643007","SNOMEDCT:203465002","SNOMEDCT:203467005","SNOMEDCT:66954000","medgen:2696","icd11.foundation:987501456","HP:0012062"],"information_content":89.4}
{"id":"MONDO:0019373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"desmoplastic small round cell tumor","equivalent_identifiers":["MONDO:0019373","DOID:6785","orphanet:83469","EFO:1000895","UMLS:C0281508","MESH:D058405","MEDDRA:10064581","MEDDRA:10064587","NCIT:C8300","SNOMEDCT:1156420003","SNOMEDCT:128735004","medgen:83833"],"information_content":84.8}
{"id":"MONDO:0019374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAMOS syndrome","equivalent_identifiers":["MONDO:0019374","orphanet:83472","UMLS:C4511633","SNOMEDCT:726031001","medgen:1387501"],"information_content":100.0}
{"id":"MONDO:0019375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome","equivalent_identifiers":["MONDO:0019375","OMIM.PS:603387","orphanet:83473","UMLS:C4302893","SNOMEDCT:722036008","medgen:928562"],"information_content":90.9}
{"id":"MONDO:0019383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute disseminated encephalomyelitis","equivalent_identifiers":["MONDO:0019383","DOID:639","orphanet:83597","EFO:0007130","UMLS:C0014059","MESH:D004673","MEDDRA:10000709","NCIT:C34578","SNOMEDCT:83942000","medgen:4033","icd11.foundation:1390433308"],"information_content":90.9}
{"id":"MONDO:0019384","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalitis lethargica","equivalent_identifiers":["MONDO:0019384","DOID:5225","orphanet:83600","UMLS:C0014040","UMLS:C0014055","MESH:D004671","MEDDRA:10003410","MEDDRA:10052369","NCIT:C26761","NCIT:C34576","SNOMEDCT:186498004","SNOMEDCT:186499007","SNOMEDCT:192687008","SNOMEDCT:285756005","medgen:4028","icd11.foundation:1777779617","ICD10:A85.8"],"information_content":100.0}
{"id":"MONDO:0019385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"steroid-responsive encephalopathy associated with autoimmune thyroiditis","equivalent_identifiers":["MONDO:0019385","orphanet:83601","UMLS:C0393639","MESH:C535841","MEDDRA:10069432","SNOMEDCT:771271000","medgen:98280"],"information_content":100.0}
{"id":"MONDO:0019387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrostomia-preauricular tags-external ophthalmoplegia syndrome","equivalent_identifiers":["MONDO:0019387","orphanet:83619","UMLS:C4509840","SNOMEDCT:723366001","medgen:1391725"],"information_content":100.0}
{"id":"MONDO:0019388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelvis syndrome","equivalent_identifiers":["MONDO:0019388","orphanet:83628","UMLS:C4510867","MEDDRA:10082400","SNOMEDCT:725138002","medgen:1374037","icd11.foundation:1311821224"],"information_content":100.0}
{"id":"MONDO:0019390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Susac syndrome","equivalent_identifiers":["MONDO:0019390","orphanet:838","EFO:1001856","UMLS:C2717757","MESH:D055955","MEDDRA:10071573","MEDDRA:10071586","NCIT:C116363","SNOMEDCT:702575003","medgen:439270","icd11.foundation:1292480458"],"information_content":100.0}
{"id":"MONDO:0019391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia","equivalent_identifiers":["MONDO:0019391","DOID:13636","OMIM.PS:227650","orphanet:84","UMLS:C0015625","UMLS:C1542664","MESH:D005199","MEDDRA:10016218","MEDDRA:10055206","NCIT:C62505","SNOMEDCT:30575002","medgen:41967","ICD10:D61.09"],"information_content":73.6}
{"id":"MONDO:0019392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syringocystadenoma papilliferum","equivalent_identifiers":["MONDO:0019392","DOID:5445","orphanet:840","EFO:1000558","UMLS:C0406803","MEDDRA:10042926","NCIT:C4172","SNOMEDCT:239121009","SNOMEDCT:8934006","medgen:98362","icd11.foundation:530424877"],"information_content":95.4}
{"id":"MONDO:0019394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Senior-Boichis syndrome","equivalent_identifiers":["MONDO:0019394","orphanet:84081","UMLS:C4274018","SNOMEDCT:717187000","medgen:902988"],"information_content":95.4}
{"id":"MONDO:0019395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hinman syndrome","equivalent_identifiers":["MONDO:0019395","orphanet:84085","UMLS:C1997362","MEDDRA:10089298","MEDDRA:10089304","NCIT:C123206","SNOMEDCT:429233001","medgen:744421"],"information_content":100.0}
{"id":"MONDO:0019398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"desmin-related myopathy with Mallory body-like inclusions","equivalent_identifiers":["MONDO:0019398","orphanet:84132","UMLS:C4275073","SNOMEDCT:715646003","medgen:898925","icd11.foundation:998522839"],"information_content":100.0}
{"id":"MONDO:0019399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Isaac syndrome","equivalent_identifiers":["MONDO:0019399","orphanet:84142","UMLS:C0242287","MESH:D020386","MEDDRA:10072359","MEDDRA:10072368","MEDDRA:10072421","MEDDRA:10090713","NCIT:C202012","SNOMEDCT:305719002","SNOMEDCT:80138003","medgen:116151","icd11.foundation:646523932","HP:0034351"],"information_content":100.0}
{"id":"MONDO:0019402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta thalassemia","equivalent_identifiers":["MONDO:0019402","DOID:12241","orphanet:848","UMLS:C0005283","MESH:D017086","MEDDRA:10004505","MEDDRA:10004514","MEDDRA:10043391","MEDDRA:10054660","NCIT:C34375","SNOMEDCT:65959000","medgen:2611","icd11.foundation:2063292324","ICD10:D56.1","ICD9:282.44"],"information_content":87.2}
{"id":"MONDO:0019405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial onset sensory and motor neuronopathy","equivalent_identifiers":["MONDO:0019405","orphanet:85162","UMLS:C4509818","SNOMEDCT:723306004","medgen:1374397"],"information_content":100.0}
{"id":"MONDO:0019406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofacial conodysplasia","equivalent_identifiers":["MONDO:0019406","orphanet:85168","UMLS:C4303862","SNOMEDCT:720754008","medgen:929531"],"information_content":100.0}
{"id":"MONDO:0019407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephalic osteodysplastic dysplasia, Saul-Wilson type","equivalent_identifiers":["MONDO:0019407","DOID:0111673","OMIM:618150","orphanet:85172","UMLS:C1300285","medgen:722057","icd11.foundation:738688839"],"information_content":100.0}
{"id":"MONDO:0019408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Astley-Kendall dysplasia","equivalent_identifiers":["MONDO:0019408","orphanet:85175","UMLS:C1300228","MESH:C535392","SNOMEDCT:389263004","medgen:224886","icd11.foundation:1367227076"],"information_content":100.0}
{"id":"MONDO:0019409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic juvenile osteoporosis","equivalent_identifiers":["MONDO:0019409","DOID:12559","OMIM:259750","orphanet:85193","UMLS:C0158447","UMLS:C0264080","MESH:C537700","MEDDRA:10021236","MEDDRA:10088561","NCIT:C119996","SNOMEDCT:3345002","medgen:120494","icd11.foundation:183642011","ICD9:733.02"],"information_content":100.0}
{"id":"MONDO:0019411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"genochondromatosis type 1","equivalent_identifiers":["MONDO:0019411","orphanet:85197","UMLS:C5438970","SNOMEDCT:1003427004","medgen:1761731","icd11.foundation:521879469"],"information_content":100.0}
{"id":"MONDO:0019412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysspondyloenchondromatosis","equivalent_identifiers":["MONDO:0019412","orphanet:85198","UMLS:C4302548","SNOMEDCT:722434004","medgen:928217","icd11.foundation:942697844"],"information_content":100.0}
{"id":"MONDO:0019414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BRESEK syndrome","equivalent_identifiers":["MONDO:0019414","orphanet:85284","UMLS:C3502469","MESH:C564519","SNOMEDCT:717945001","medgen:502868"],"information_content":100.0}
{"id":"MONDO:0019415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal and neonatal alloimmune thrombocytopenia","equivalent_identifiers":["MONDO:0019415","orphanet:853","UMLS:C3853779","UMLS:C3854603","MEDDRA:10075149","MEDDRA:10075150","MEDDRA:10075151","MEDDRA:10075152","MEDDRA:10075153","NCIT:C101200","SNOMEDCT:240305000","medgen:1720701","HP:0004809"],"information_content":100.0}
{"id":"MONDO:0019416","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome","equivalent_identifiers":["MONDO:0019416","orphanet:85317","UMLS:C4304919","SNOMEDCT:719156006","medgen:930588"],"information_content":100.0}
{"id":"MONDO:0019418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome","equivalent_identifiers":["MONDO:0019418","orphanet:85319","UMLS:C4304917","SNOMEDCT:719155005","medgen:930586"],"information_content":100.0}
{"id":"MONDO:0019419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-macrocephaly-macroorchidism syndrome","equivalent_identifiers":["MONDO:0019419","orphanet:85320","UMLS:C4304406","SNOMEDCT:719825000","medgen:930075"],"information_content":100.0}
{"id":"MONDO:0019420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Pai type","equivalent_identifiers":["MONDO:0019420","orphanet:85322","UMLS:C4305026","SNOMEDCT:719011002","medgen:930695"],"information_content":100.0}
{"id":"MONDO:0019421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Seemanova type","equivalent_identifiers":["MONDO:0019421","orphanet:85323","UMLS:C4305088","SNOMEDCT:718897009","medgen:930757"],"information_content":100.0}
{"id":"MONDO:0019422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Stevenson type","equivalent_identifiers":["MONDO:0019422","orphanet:85325","UMLS:C4305077","SNOMEDCT:718909001","medgen:930746"],"information_content":100.0}
{"id":"MONDO:0019423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Stoll type","equivalent_identifiers":["MONDO:0019423","orphanet:85326","UMLS:C4305075","SNOMEDCT:718911005","medgen:930744"],"information_content":100.0}
{"id":"MONDO:0019424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-acromegaly-hyperactivity syndrome","equivalent_identifiers":["MONDO:0019424","orphanet:85327","UMLS:C4304407","SNOMEDCT:719826004","medgen:930076"],"information_content":100.0}
{"id":"MONDO:0019427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked neurodegenerative syndrome, Bertini type","equivalent_identifiers":["MONDO:0019427","orphanet:85334","UMLS:C4305133","SNOMEDCT:718849008","medgen:930802"],"information_content":100.0}
{"id":"MONDO:0019428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fried syndrome","equivalent_identifiers":["MONDO:0019428","orphanet:85335","UMLS:C4305134","SNOMEDCT:718848000","medgen:930803"],"information_content":100.0}
{"id":"MONDO:0019429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked neurodegenerative syndrome, Hamel type","equivalent_identifiers":["MONDO:0019429","orphanet:85336","UMLS:C4305135","SNOMEDCT:718847005","medgen:930804"],"information_content":100.0}
{"id":"MONDO:0019430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability-ataxia-apraxia syndrome","equivalent_identifiers":["MONDO:0019430","orphanet:85338","UMLS:C4305139","SNOMEDCT:718845002","medgen:930808"],"information_content":100.0}
{"id":"MONDO:0019432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rheumatoid factor-negative juvenile idiopathic arthritis","equivalent_identifiers":["MONDO:0019432","orphanet:85408","EFO:1002020","UMLS:C3890205","NCIT:C119033","SNOMEDCT:410797009","medgen:855549"],"information_content":92.8}
{"id":"MONDO:0019433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligoarticular juvenile idiopathic arthritis","equivalent_identifiers":["MONDO:0019433","orphanet:85410","EFO:1002019","UMLS:C2931171","MESH:C536312","NCIT:C119032","SNOMEDCT:410798004","medgen:443993","icd11.foundation:1990556904"],"information_content":92.8}
{"id":"MONDO:0019434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Still Disease","equivalent_identifiers":["MONDO:0019434","orphanet:85414","EFO:1001999","UMLS:C0087031","UMLS:C1384600","UMLS:C1858558","MESH:C565798","MEDDRA:10042061","MEDDRA:10073160","MEDDRA:10079453","MEDDRA:10079454","NCIT:C119031","NCIT:C61278","SNOMEDCT:201796004","medgen:346934","icd11.foundation:504387587"],"information_content":90.9}
{"id":"MONDO:0019435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rheumatoid factor-positive polyarticular juvenile idiopathic arthritis","equivalent_identifiers":["MONDO:0019435","orphanet:85435","EFO:0009731","UMLS:C3890733","NCIT:C119034","medgen:855737"],"information_content":100.0}
{"id":"MONDO:0019436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis-related juvenile idiopathic arthritis","equivalent_identifiers":["MONDO:0019436","orphanet:85436","EFO:0009733","UMLS:C3714758","MEDDRA:10076674","NCIT:C114361","SNOMEDCT:239802003","medgen:811463","icd11.foundation:1473955563"],"information_content":100.0}
{"id":"MONDO:0019437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enthesitis-related juvenile idiopathic arthritis","equivalent_identifiers":["MONDO:0019437","orphanet:85438","EFO:0009732","UMLS:C1444844","UMLS:C3495919","MEDDRA:10072745","NCIT:C119024","SNOMEDCT:410801005","medgen:854059","icd11.foundation:1128255226"],"information_content":100.0}
{"id":"MONDO:0019438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AL amyloidosis","equivalent_identifiers":["MONDO:0019438","DOID:0080933","orphanet:85443","UMLS:C0268381","MESH:C531616","MESH:D000075363","MEDDRA:10036673","MEDDRA:10083938","MEDDRA:10086183","NCIT:C158963","NCIT:C3819","SNOMEDCT:23132008","medgen:75674","icd11.foundation:1061366491","icd11.foundation:113043090","ICD10:E85.81"],"information_content":83.1}
{"id":"MONDO:0019439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AA amyloidosis","equivalent_identifiers":["MONDO:0019439","DOID:0080936","orphanet:85445","UMLS:C3536715","MESH:C000718787","MEDDRA:10039811","MEDDRA:10086184","NCIT:C3818","SNOMEDCT:274945004","SNOMEDCT:281034005","medgen:782429","icd11.foundation:570181034","ICD10:E85.3","HP:4000041"],"information_content":100.0}
{"id":"MONDO:0019440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wild type ABeta2M amyloidosis","equivalent_identifiers":["MONDO:0019440","orphanet:85446","UMLS:C0268405","SNOMEDCT:32599008","medgen:78673","icd11.foundation:499046814"],"information_content":100.0}
{"id":"MONDO:0019441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ATTRV122I amyloidosis","equivalent_identifiers":["MONDO:0019441","orphanet:85451","UMLS:C4275067","SNOMEDCT:715655000","medgen:907865","icd11.foundation:1449168185"],"information_content":100.0}
{"id":"MONDO:0019443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dextro-looped transposition of the great arteries","equivalent_identifiers":["MONDO:0019443","DOID:0060770","orphanet:860","UMLS:C5671327","medgen:1812310","ICD10:Q20.3"],"information_content":89.4}
{"id":"MONDO:0019444","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichinellosis","equivalent_identifiers":["MONDO:0019444","DOID:9784","orphanet:863","EFO:0007520","UMLS:C0040896","MESH:D014235","MEDDRA:10044608","MEDDRA:10044609","NCIT:C85199","SNOMEDCT:709018004","medgen:21645","icd11.foundation:284613639","ICD10:B75","ICD9:124"],"information_content":95.4}
{"id":"MONDO:0019448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign adult familial myoclonic epilepsy","equivalent_identifiers":["MONDO:0019448","orphanet:86814","UMLS:C4273988","SNOMEDCT:717225001","medgen:908684","icd11.foundation:1036649329"],"information_content":100.0}
{"id":"MONDO:0019451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic neutrophilic leukemia","equivalent_identifiers":["MONDO:0019451","DOID:0080187","orphanet:86829","EFO:1000179","UMLS:C0023481","UMLS:C0474856","MESH:D015467","NCIT:C3179","SNOMEDCT:128834007","SNOMEDCT:188734009","SNOMEDCT:307617006","medgen:6061","icd11.foundation:426734182"],"information_content":92.8}
{"id":"MONDO:0019452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloproliferative neoplasm, unclassifiable","equivalent_identifiers":["MONDO:0019452","orphanet:86830","UMLS:C1328061","UMLS:C1333046","NCIT:C27350","SNOMEDCT:1255668009","SNOMEDCT:447240002","SNOMEDCT:447596005","medgen:232365"],"information_content":95.4}
{"id":"MONDO:0019454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelodysplastic syndrome with excess blasts","equivalent_identifiers":["MONDO:0019454","orphanet:86839","EFO:0003811","UMLS:C0002894","MESH:D000754","MEDDRA:10037803","MEDDRA:10038270","MEDDRA:10054592","MEDDRA:10088023","NCIT:C7506","SNOMEDCT:128847002","SNOMEDCT:398623004","medgen:8066"],"information_content":92.8}
{"id":"MONDO:0019455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute panmyelosis with myelofibrosis","equivalent_identifiers":["MONDO:0019455","orphanet:86843","UMLS:C0334674","MEDDRA:10000879","NCIT:C4344","SNOMEDCT:109991003","medgen:87279","icd11.foundation:1831346835","icd11.foundation:585339631"],"information_content":95.4}
{"id":"MONDO:0019456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with multilineage dysplasia","equivalent_identifiers":["MONDO:0019456","orphanet:86845","UMLS:C1292773","NCIT:C9289","SNOMEDCT:128827005","SNOMEDCT:445448008","medgen:224861","icd11.foundation:1235412948"],"information_content":95.4}
{"id":"MONDO:0019458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute basophilic leukemia","equivalent_identifiers":["MONDO:0019458","DOID:0080795","orphanet:86849","EFO:0003029","UMLS:C0023437","UMLS:C0221292","MESH:D015471","MEDDRA:10024293","MEDDRA:10024332","NCIT:C3164","SNOMEDCT:307592006","SNOMEDCT:69077002","medgen:7314","icd11.foundation:1632520399"],"information_content":92.8}
{"id":"MONDO:0019469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-cell large granular lymphocyte leukemia","equivalent_identifiers":["MONDO:0019469","DOID:0050751","orphanet:86872","UMLS:C1522378","UMLS:C1955860","UMLS:C1955861","MESH:D054066","MEDDRA:10023791","MEDDRA:10065862","NCIT:C4664","SNOMEDCT:128819001","SNOMEDCT:277569004","SNOMEDCT:55081009","SNOMEDCT:699818003","medgen:363038","icd11.foundation:83430037"],"information_content":88.2}
{"id":"MONDO:0019475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subcutaneous panniculitis-like T-cell lymphoma","equivalent_identifiers":["MONDO:0019475","OMIM:618398","orphanet:86884","EFO:1000552","UMLS:C0522624","MESH:C537503","NCIT:C6918","SNOMEDCT:103682005","SNOMEDCT:404133000","medgen:99306","icd11.foundation:1550338805","HP:0034403"],"information_content":92.8}
{"id":"MONDO:0019487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy with myoclonic absences","equivalent_identifiers":["MONDO:0019487","orphanet:86911","UMLS:C0393703","SNOMEDCT:230422001","medgen:140741","icd11.foundation:274380122"],"information_content":100.0}
{"id":"MONDO:0019489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse palmoplantar keratoderma - acrocyanosis syndrome","equivalent_identifiers":["MONDO:0019489","orphanet:86918","UMLS:C4303588","SNOMEDCT:721096008","medgen:929257"],"information_content":100.0}
{"id":"MONDO:0019490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive familial heart block","equivalent_identifiers":["MONDO:0019490","DOID:0111073","OMIM.PS:113900","orphanet:871","SNOMEDCT:698249005"],"information_content":90.9}
{"id":"MONDO:0019496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0019496","DOID:169","orphanet:877","EFO:1001901","UMLS:C0206754","MESH:D018358","MEDDRA:10052399","MEDDRA:10062476","NCIT:C188218","NCIT:C3809","SNOMEDCT:1286768001","SNOMEDCT:1288045008","SNOMEDCT:128928004","SNOMEDCT:1290052006","SNOMEDCT:255046005","medgen:64652","ICD10:D3A.8","ICD9:209-209.99","HP:0100634"],"information_content":55.1}
{"id":"MONDO:0019497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonsyndromic genetic hearing loss","equivalent_identifiers":["MONDO:0019497","DOID:0050563","orphanet:87884","EFO:0009076","UMLS:C3711374","UMLS:C5680182","MESH:C580334","SNOMEDCT:1260199008","medgen:1830101","icd11.foundation:1154032108"],"information_content":65.2}
{"id":"MONDO:0019499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Turner syndrome","equivalent_identifiers":["MONDO:0019499","DOID:3491","orphanet:881","UMLS:C0041408","MESH:D014424","MEDDRA:10045181","MEDDRA:10048226","NCIT:C26900","NCIT:C85210","SNOMEDCT:38804009","medgen:21734","icd11.foundation:1987089698","ICD10:Q96"],"information_content":89.4}
{"id":"MONDO:0019501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome","equivalent_identifiers":["MONDO:0019501","DOID:0050439","OMIM.PS:276900","orphanet:886","UMLS:C0271097","MESH:D052245","MEDDRA:10063396","NCIT:C85217","medgen:78754","icd11.foundation:1452641873"],"information_content":79.9}
{"id":"MONDO:0019502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AR-NSID","equivalent_identifiers":["MONDO:0019502","DOID:0060308","OMIM.PS:249500","orphanet:88616","UMLS:C5680181","medgen:1826073"],"information_content":71.8}
{"id":"MONDO:0019503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior segment dysgenesis","equivalent_identifiers":["MONDO:0019503","DOID:0060648","OMIM.PS:107250","orphanet:88632","UMLS:C0266525","UMLS:C1862839","MESH:C537775","SNOMEDCT:65075004","medgen:350766","icd11.foundation:1182282997","icd11.foundation:943599144","ICD10:Q13.8","HP:0007700"],"information_content":77.1}
{"id":"MONDO:0019506","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome","equivalent_identifiers":["MONDO:0019506","orphanet:88643","UMLS:C4302879","SNOMEDCT:722051004","medgen:928548"],"information_content":100.0}
{"id":"MONDO:0019507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta","equivalent_identifiers":["MONDO:0019507","DOID:2187","OMIM.PS:104500","orphanet:88661","UMLS:C0002452","MESH:D000567","MEDDRA:10081678","SNOMEDCT:78494001","medgen:240","icd11.foundation:1923123066","HP:0000705"],"information_content":79.0}
{"id":"MONDO:0019508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"van der Woude syndrome","equivalent_identifiers":["MONDO:0019508","DOID:0060239","orphanet:888","UMLS:C0175697","UMLS:C1834339","MESH:C536528","MESH:C563529","NCIT:C74986","SNOMEDCT:79261008","medgen:61233","icd11.foundation:133440037","ICD10:Q38.0"],"information_content":92.8}
{"id":"MONDO:0019509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous leukocytoclastic angiitis","equivalent_identifiers":["MONDO:0019509","orphanet:889","UMLS:C4049638","MEDDRA:10085309","NCIT:C122919","SNOMEDCT:718217000","medgen:881641","icd11.foundation:71458216"],"information_content":100.0}
{"id":"MONDO:0019514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatic veno-occlusive disease","equivalent_identifiers":["MONDO:0019514","DOID:0080177","orphanet:890","UMLS:C0019156","MESH:D006504","MEDDRA:10047216","MEDDRA:10047217","MEDDRA:10063675","MEDDRA:10084397","NCIT:C26793","SNOMEDCT:65617004","medgen:5514","icd11.foundation:762044088","ICD10:K76.5","HP:6000716"],"information_content":95.4}
{"id":"MONDO:0019516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exudative vitreoretinopathy","equivalent_identifiers":["MONDO:0019516","DOID:0050535","OMIM.PS:133780","orphanet:891","UMLS:C0004608","UMLS:C0339539","MESH:C580083","MESH:D000080345","MEDDRA:10003996","MEDDRA:10038924","SNOMEDCT:232063007","medgen:573220","ICD10:H35.00","ICD9:362.10"],"information_content":81.7}
{"id":"MONDO:0019517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 2","equivalent_identifiers":["MONDO:0019517","orphanet:895","UMLS:C2700265","MESH:C536463","NCIT:C75009","SNOMEDCT:1010636000","medgen:398443","icd11.foundation:746815303"],"information_content":88.2}
{"id":"MONDO:0019518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg-Shah syndrome","equivalent_identifiers":["MONDO:0019518","orphanet:897","NCIT:C124842","icd11.foundation:1420151003"],"information_content":90.9}
{"id":"MONDO:0019522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recessive dystrophic epidermolysis bullosa-generalized other","equivalent_identifiers":["MONDO:0019522","orphanet:89842","UMLS:C4511044","SNOMEDCT:725407006","medgen:1392226"],"information_content":100.0}
{"id":"MONDO:0019524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartter syndrome type 4","equivalent_identifiers":["MONDO:0019524","orphanet:89938","UMLS:C3838860","SNOMEDCT:700112007","medgen:824706","icd11.foundation:959024909"],"information_content":92.8}
{"id":"MONDO:0019525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetrasomy X","equivalent_identifiers":["MONDO:0019525","orphanet:9","UMLS:C0265496","MESH:C536502","SNOMEDCT:10567003","medgen:120544","icd11.foundation:1181464236"],"information_content":100.0}
{"id":"MONDO:0019526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythema elevatum diutinum","equivalent_identifiers":["MONDO:0019526","DOID:0060567","orphanet:90000","UMLS:C0263398","MESH:C535509","MEDDRA:10050514","MEDDRA:10056968","SNOMEDCT:58872001","medgen:75517","icd11.foundation:754210950","ICD10:L95.1"],"information_content":100.0}
{"id":"MONDO:0019527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"undifferentiated connective tissue syndrome","equivalent_identifiers":["MONDO:0019527","orphanet:90002","UMLS:C0409999","MESH:D000074079","MEDDRA:10071575","NCIT:C116776","SNOMEDCT:239918008","medgen:592754"],"information_content":100.0}
{"id":"MONDO:0019528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory pseudotumor of the liver","equivalent_identifiers":["MONDO:0019528","orphanet:90003"],"information_content":100.0}
{"id":"MONDO:0019531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic anemia due to glutathione reductase deficiency","equivalent_identifiers":["MONDO:0019531","DOID:0051009","OMIM:618660","orphanet:90030","UMLS:C5231513","medgen:1684855"],"information_content":100.0}
{"id":"MONDO:0019532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune hemolytic anemia, warm type","equivalent_identifiers":["MONDO:0019532","orphanet:90033","UMLS:C0272118","UMLS:C5206690","MEDDRA:10047822","MEDDRA:10054703","MEDDRA:10087091","MEDDRA:10087092","NCIT:C162611","SNOMEDCT:3978000","medgen:450541","icd11.foundation:880772122"],"information_content":100.0}
{"id":"MONDO:0019533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal cold hemoglobinuria","equivalent_identifiers":["MONDO:0019533","orphanet:90035","UMLS:C0086774","SNOMEDCT:127057004","medgen:39693","icd11.foundation:715111132"],"information_content":100.0}
{"id":"MONDO:0019534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed-type autoimmune hemolytic anemia","equivalent_identifiers":["MONDO:0019534","orphanet:90036","UMLS:C4305257","SNOMEDCT:718716008","medgen:930926","icd11.foundation:1878239449"],"information_content":100.0}
{"id":"MONDO:0019535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug-induced autoimmune hemolytic anemia","equivalent_identifiers":["MONDO:0019535","orphanet:90037","UMLS:C0391817","SNOMEDCT:309742004","medgen:580980"],"information_content":100.0}
{"id":"MONDO:0019536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shiga toxin-associated hemolytic uremic syndrome","equivalent_identifiers":["MONDO:0019536","orphanet:90038","UMLS:C1856143","medgen:383843"],"information_content":100.0}
{"id":"MONDO:0019537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemoglobin D disease","equivalent_identifiers":["MONDO:0019537","DOID:5378","orphanet:90039","UMLS:C0272080","MEDDRA:10055019","MEDDRA:10055079","NCIT:C35344","SNOMEDCT:66729008","medgen:124416","icd11.foundation:1508363690"],"information_content":100.0}
{"id":"MONDO:0019538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gaisbock syndrome","equivalent_identifiers":["MONDO:0019538","DOID:2838","orphanet:90041","UMLS:C0541719","UMLS:C2242785","MEDDRA:10042217","MEDDRA:10053885","MEDDRA:10054644","NCIT:C27174","SNOMEDCT:36874002","SNOMEDCT:48250002","medgen:745735","icd11.foundation:533704171"],"information_content":100.0}
{"id":"MONDO:0019540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse alveolar hemorrhage","equivalent_identifiers":["MONDO:0019540","orphanet:90060","UMLS:C4476767","MEDDRA:10090404","MEDDRA:10090406","SNOMEDCT:829972004","medgen:1381751","HP:0025420"],"information_content":100.0}
{"id":"MONDO:0019542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute liver failure","equivalent_identifiers":["MONDO:0019542","orphanet:90062","UMLS:C0162557","MESH:D017114","MEDDRA:10000804","MEDDRA:10049844","NCIT:C84396","SNOMEDCT:197270009","medgen:58125","HP:0006554"],"information_content":92.8}
{"id":"MONDO:0019543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired aneurysmal subarachnoid hemorrhage","equivalent_identifiers":["MONDO:0019543","orphanet:90065","UMLS:C0338572","SNOMEDCT:230719004","medgen:572642","icd11.foundation:958976948"],"information_content":100.0}
{"id":"MONDO:0019544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cocaine intoxication","equivalent_identifiers":["MONDO:0019544","orphanet:90068","UMLS:C0009176","SNOMEDCT:27956007","icd11.foundation:1965837313"],"information_content":100.0}
{"id":"MONDO:0019547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wells syndrome","equivalent_identifiers":["MONDO:0019547","orphanet:901","UMLS:C0343101","MESH:C536693","MEDDRA:10053776","MEDDRA:10053780","SNOMEDCT:238931006","medgen:91008","icd11.foundation:1860796142"],"information_content":100.0}
{"id":"MONDO:0019549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe early-onset axonal neuropathy due to MFN2 deficiency","equivalent_identifiers":["MONDO:0019549","orphanet:90118","UMLS:C4707897","SNOMEDCT:766977007","medgen:1641956"],"information_content":100.0}
{"id":"MONDO:0019551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary motor and sensory neuropathy type 6","equivalent_identifiers":["MONDO:0019551","DOID:0080068","orphanet:90120","UMLS:C0393807","MESH:C562851","SNOMEDCT:128203003","medgen:140747","icd11.foundation:467894833"],"information_content":90.9}
{"id":"MONDO:0019552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"centrifugal lipodystrophy","equivalent_identifiers":["MONDO:0019552","orphanet:90156","UMLS:C0406605","SNOMEDCT:238899009","medgen:590539","icd11.foundation:1561732835"],"information_content":100.0}
{"id":"MONDO:0019553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug-induced localized lipodystrophy","equivalent_identifiers":["MONDO:0019553","orphanet:90157","UMLS:C1274983","SNOMEDCT:403661001","medgen:698295"],"information_content":100.0}
{"id":"MONDO:0019554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic localized lipodystrophy","equivalent_identifiers":["MONDO:0019554","orphanet:90158","UMLS:C0473566","SNOMEDCT:238897006","medgen:633314"],"information_content":100.0}
{"id":"MONDO:0019555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panniculitis and localized lipodystrophy","equivalent_identifiers":["MONDO:0019555","orphanet:90159","UMLS:C5190785","SNOMEDCT:783014007","medgen:1678538"],"information_content":100.0}
{"id":"MONDO:0019556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pressure-induced localized lipoatrophy","equivalent_identifiers":["MONDO:0019556","orphanet:90160","UMLS:C0333665","UMLS:C1260961","SNOMEDCT:238898001","SNOMEDCT:31040001","medgen:687584"],"information_content":100.0}
{"id":"MONDO:0019557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chilblain lupus","equivalent_identifiers":["MONDO:0019557","DOID:0060386","orphanet:90280","UMLS:C4551515","MEDDRA:10025141","MEDDRA:10074626","SNOMEDCT:238928005","SNOMEDCT:72470008","medgen:1632142"],"information_content":90.9}
{"id":"MONDO:0019558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"discoid lupus erythematosus","equivalent_identifiers":["MONDO:0019558","orphanet:90281","UMLS:C0024138","UMLS:C5574816","MESH:D008179","MEDDRA:10013071","MEDDRA:10013072","MEDDRA:10025132","MEDDRA:10025137","MEDDRA:10025138","MEDDRA:10057929","NCIT:C26820","SNOMEDCT:200938002","SNOMEDCT:238927000","medgen:1811126","icd11.foundation:2144907708","HP:0007417"],"information_content":100.0}
{"id":"MONDO:0019560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lupus erythematosus tumidus","equivalent_identifiers":["MONDO:0019560","orphanet:90283","UMLS:C0406636","MEDDRA:10074628","NCIT:C117112","SNOMEDCT:200941006","medgen:590566","icd11.foundation:153320433"],"information_content":100.0}
{"id":"MONDO:0019562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"localized scleroderma","equivalent_identifiers":["MONDO:0019562","DOID:8472","orphanet:90289","EFO:1001361","UMLS:C0036420","MESH:D012594","MEDDRA:10009206","MEDDRA:10039712","NCIT:C72069","SNOMEDCT:201048007","medgen:48586","icd11.foundation:1430740369","ICD10:L94.0","ICD9:701.0"],"information_content":84.8}
{"id":"MONDO:0019565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary von Willebrand disease","equivalent_identifiers":["MONDO:0019565","DOID:12531","orphanet:903","UMLS:C2930849","UMLS:C5703318","MESH:C531844","SNOMEDCT:1259242002","SNOMEDCT:234446004","medgen:1814986","icd11.foundation:2112021600","ICD10:D68.0","ICD9:286.4"],"information_content":84.2}
{"id":"MONDO:0019567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, classic type, 1","equivalent_identifiers":["MONDO:0019567","DOID:14720","OMIM:130000","UMLS:C0268335","MESH:C536194","NCIT:C125696","SNOMEDCT:83470009","medgen:78660"],"information_content":100.0}
{"id":"MONDO:0019568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, classic type, 2","equivalent_identifiers":["MONDO:0019568","DOID:0080726","OMIM:130010","UMLS:C0268336","MESH:C536195","NCIT:C125697","SNOMEDCT:1287094005","medgen:120628"],"information_content":100.0}
{"id":"MONDO:0019569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cockayne syndrome type 1","equivalent_identifiers":["MONDO:0019569","DOID:0080907","OMIM:216400","orphanet:90321","UMLS:C0751039","NCIT:C135725","SNOMEDCT:890433006","medgen:155488","icd11.foundation:1271368066"],"information_content":100.0}
{"id":"MONDO:0019570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cockayne syndrome type 2","equivalent_identifiers":["MONDO:0019570","DOID:0080908","OMIM:133540","orphanet:90322","UMLS:C0751038","NCIT:C135726","SNOMEDCT:890434000","medgen:155487","icd11.foundation:1604701958"],"information_content":100.0}
{"id":"MONDO:0019571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant cutis laxa","equivalent_identifiers":["MONDO:0019571","DOID:0070142","orphanet:90348","UMLS:C0268350","MESH:C562627","SNOMEDCT:111388003","medgen:120630","icd11.foundation:720393698"],"information_content":90.9}
{"id":"MONDO:0019572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cutis laxa type 1","equivalent_identifiers":["MONDO:0019572","DOID:0070144","orphanet:90349","UMLS:C0268351","UMLS:C0432336","UMLS:C2931134","MESH:C536225","SNOMEDCT:254222002","medgen:78663"],"information_content":90.9}
{"id":"MONDO:0019574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary intestinal lymphangiectasia","equivalent_identifiers":["MONDO:0019574","orphanet:90363","UMLS:C4273969","SNOMEDCT:717255008","medgen:908114","icd11.foundation:1730894033"],"information_content":100.0}
{"id":"MONDO:0019575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotrichosis simplex of the scalp","equivalent_identifiers":["MONDO:0019575","orphanet:90368","SNOMEDCT:717256009"],"information_content":92.8}
{"id":"MONDO:0019576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"telangiectasia macularis eruptiva perstans","equivalent_identifiers":["MONDO:0019576","orphanet:90389","UMLS:C0263402","MESH:C000715747","MEDDRA:10043192","SNOMEDCT:8214000","medgen:78094","icd11.foundation:444226072","HP:0007583"],"information_content":100.0}
{"id":"MONDO:0019586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked nonsyndromic hearing loss","equivalent_identifiers":["MONDO:0019586","DOID:0050566","orphanet:90625","UMLS:C5680192","medgen:1825990"],"information_content":87.2}
{"id":"MONDO:0019587","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nonsyndromic hearing loss","equivalent_identifiers":["MONDO:0019587","DOID:0050564","OMIM.PS:124900","orphanet:90635","UMLS:C5779548","medgen:1843285","ICD10:H90.3"],"information_content":71.4}
{"id":"MONDO:0019588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal recessive","equivalent_identifiers":["MONDO:0019588","DOID:0050565","OMIM:607197","OMIM.PS:220290","orphanet:90636","UMLS:C1846647","MESH:C564609","medgen:337623"],"information_content":69.4}
{"id":"MONDO:0019591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panhypopituitarism","equivalent_identifiers":["MONDO:0019591","DOID:9410","orphanet:90695","UMLS:C0242343","MESH:C580003","MEDDRA:10033662","NCIT:C110940","SNOMEDCT:32390006","medgen:69171","icd11.foundation:1576287890","ICD9:253.2","HP:0000871"],"information_content":92.8}
{"id":"MONDO:0019600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xeroderma pigmentosum","equivalent_identifiers":["MONDO:0019600","DOID:0050427","orphanet:910","UMLS:C0043346","MESH:D014983","MEDDRA:10048220","NCIT:C3452","SNOMEDCT:44600005","medgen:21943","icd11.foundation:1243068849","ICD10:Q82.1"],"information_content":78.5}
{"id":"MONDO:0019606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"simple cryoglobulinemia","equivalent_identifiers":["MONDO:0019606","orphanet:91139","UMLS:C4510006","SNOMEDCT:723674005","medgen:1383731"],"information_content":100.0}
{"id":"MONDO:0019609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zellweger spectrum disorders","equivalent_identifiers":["MONDO:0019609","DOID:905","orphanet:912","UMLS:C0043459","UMLS:C0282526","MESH:D015211","MEDDRA:10053684","MEDDRA:10053706","MEDDRA:10082383","MEDDRA:10082387","NCIT:C125593","NCIT:C85239","SNOMEDCT:13306007","SNOMEDCT:88469006","medgen:21958","ICD10:E71.510"],"information_content":75.3}
{"id":"MONDO:0019610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zollinger-Ellison syndrome","equivalent_identifiers":["MONDO:0019610","DOID:0050782","orphanet:913","EFO:0007549","UMLS:C0043515","MESH:D015043","MEDDRA:10042855","MEDDRA:10048253","MEDDRA:10048281","NCIT:C3453","SNOMEDCT:53132006","medgen:53129","icd11.foundation:375645550","ICD10:E16.4","HP:0002044"],"information_content":90.9}
{"id":"MONDO:0019611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TSH-secreting pituitary adenoma","equivalent_identifiers":["MONDO:0019611","orphanet:91347","UMLS:C0346303","medgen:87550","icd11.foundation:125504731"],"information_content":100.0}
{"id":"MONDO:0019612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"functioning gonadotropic adenoma","equivalent_identifiers":["MONDO:0019612","orphanet:91348","UMLS:C0346304","NCIT:C45915","SNOMEDCT:1156908000","SNOMEDCT:254960002","medgen:577353"],"information_content":92.8}
{"id":"MONDO:0019613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-functioning pituitary adenoma","equivalent_identifiers":["MONDO:0019613","DOID:5715","orphanet:91349","EFO:0008516","NCIT:C4348","icd11.foundation:1197752358"],"information_content":87.2}
{"id":"MONDO:0019614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary deficiency due to Rathke's pouch cysts","equivalent_identifiers":["MONDO:0019614","orphanet:91350","UMLS:C5190782","SNOMEDCT:783009008","medgen:1676440"],"information_content":100.0}
{"id":"MONDO:0019615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary dermoid and epidermoid cysts","equivalent_identifiers":["MONDO:0019615","orphanet:91351","UMLS:C5190781","SNOMEDCT:783008000","medgen:1674582"],"information_content":100.0}
{"id":"MONDO:0019617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary deficiency due to empty sella turcica syndrome","equivalent_identifiers":["MONDO:0019617","orphanet:91354","UMLS:C4275064","SNOMEDCT:715668008","medgen:902244","icd11.foundation:309067714"],"information_content":100.0}
{"id":"MONDO:0019618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sheehan syndrome","equivalent_identifiers":["MONDO:0019618","DOID:9476","orphanet:91355","UMLS:C0242342","MEDDRA:10036297","MEDDRA:10040537","NCIT:C35300","SNOMEDCT:237684005","SNOMEDCT:290653008","medgen:116569","icd11.foundation:421687193"],"information_content":100.0}
{"id":"MONDO:0019620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital esophageal diverticulum","equivalent_identifiers":["MONDO:0019620","orphanet:91358","UMLS:C0014854","UMLS:C0266133","MESH:D004936","MEDDRA:10013557","MEDDRA:10013563","MEDDRA:10013564","MEDDRA:10072777","SNOMEDCT:204667006","SNOMEDCT:414133009","medgen:539704","icd11.foundation:42183618","HP:0100628"],"information_content":100.0}
{"id":"MONDO:0019621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic pneumonitis of infancy","equivalent_identifiers":["MONDO:0019621","orphanet:91359","UMLS:C3872848","SNOMEDCT:708026002","medgen:846677","icd11.foundation:1821220054"],"information_content":100.0}
{"id":"MONDO:0019622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-specific interstitial pneumonia","equivalent_identifiers":["MONDO:0019622","DOID:2801","orphanet:91364","UMLS:C1290344","MEDDRA:10089302","NCIT:C35717","SNOMEDCT:129452008","medgen:220936","HP:0033584"],"information_content":92.8}
{"id":"MONDO:0019625","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial thoracic aortic aneurysm and aortic dissection","equivalent_identifiers":["MONDO:0019625","OMIM.PS:607086","orphanet:91387","UMLS:C0392775","UMLS:C4707243","UMLS:C4760653","MESH:C536230","NCIT:C97064","SNOMEDCT:45894003","SNOMEDCT:764965000","medgen:1644766","HP:0200146"],"information_content":84.8}
{"id":"MONDO:0019627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated congenital alacrima","equivalent_identifiers":["MONDO:0019627","orphanet:91416","UMLS:C4273963","SNOMEDCT:717262004","medgen:896261"],"information_content":92.8}
{"id":"MONDO:0019628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rieger anomaly","equivalent_identifiers":["MONDO:0019628","orphanet:91483","medgen:78558"],"information_content":95.4}
{"id":"MONDO:0019629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sclerocornea","equivalent_identifiers":["MONDO:0019629","DOID:0060252","orphanet:91490","UMLS:C1853235","MESH:C565209","MEDDRA:10089596","medgen:344000","icd11.foundation:995798428","HP:0000647"],"information_content":92.8}
{"id":"MONDO:0019631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent hyperplastic primary vitreous","equivalent_identifiers":["MONDO:0019631","DOID:0060282","OMIM.PS:221900","orphanet:91495","UMLS:C0266568","MESH:D054514","MEDDRA:10091189","NCIT:C161554","SNOMEDCT:314270008","SNOMEDCT:44647001","SNOMEDCT:69927002","medgen:120583","icd11.foundation:1011137326","HP:0007968"],"information_content":89.4}
{"id":"MONDO:0019632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lyme disease","equivalent_identifiers":["MONDO:0019632","DOID:11729","orphanet:91546","EFO:0008510","UMLS:C0024198","UMLS:C0752235","UMLS:C5779706","MESH:D008193","MESH:D020852","MEDDRA:10006036","MEDDRA:10025169","MEDDRA:10025170","MEDDRA:10067559","NCIT:C45161","SNOMEDCT:1269516003","SNOMEDCT:23502006","SNOMEDCT:48982009","SNOMEDCT:715507005","medgen:44213","icd11.foundation:1600014919","ICD10:A69.2","ICD9:088.81"],"information_content":88.2}
{"id":"MONDO:0019633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"relapsing fever","equivalent_identifiers":["MONDO:0019633","DOID:13034","orphanet:91547","UMLS:C0035021","MESH:D012061","MEDDRA:10038300","MEDDRA:10046134","SNOMEDCT:420079008","medgen:48397","icd11.foundation:965498095","ICD10:A68","ICD9:087"],"information_content":92.8}
{"id":"MONDO:0019634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial nasal acilia","equivalent_identifiers":["MONDO:0019634","orphanet:922","UMLS:C4706505","SNOMEDCT:763532008","medgen:1647725"],"information_content":100.0}
{"id":"MONDO:0019635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic achalasia","equivalent_identifiers":["MONDO:0019635","orphanet:930","UMLS:C0859976","MEDDRA:10036669","SNOMEDCT:715192004","medgen:798339"],"information_content":100.0}
{"id":"MONDO:0019636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Single kidney","equivalent_identifiers":["MONDO:0019636","orphanet:93100","UMLS:C0266294","UMLS:C1849176","MESH:D000075529","MEDDRA:10051001","MEDDRA:10053624","NCIT:C101220","SNOMEDCT:55726006","medgen:75607","icd11.foundation:760295498","HP:0000122"],"information_content":100.0}
{"id":"MONDO:0019637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypoplasia","equivalent_identifiers":["MONDO:0019637","DOID:0080204","orphanet:93101","UMLS:C0266295","MEDDRA:10049102","SNOMEDCT:32659003","medgen:120571","HP:0000089"],"information_content":90.9}
{"id":"MONDO:0019638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal dysplasia","equivalent_identifiers":["MONDO:0019638","orphanet:93108","medgen:760690","icd11.foundation:921320354"],"information_content":92.8}
{"id":"MONDO:0019639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Megacalycosis","equivalent_identifiers":["MONDO:0019639","orphanet:93109","UMLS:C0266317","UMLS:C5545379","NCIT:C123198","SNOMEDCT:1137561000","SNOMEDCT:85901000","medgen:1782490","icd11.foundation:954627950"],"information_content":92.8}
{"id":"MONDO:0019640","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior urethral valve","equivalent_identifiers":["MONDO:0019640","orphanet:93110","UMLS:C0238506","MEDDRA:10036369","NCIT:C99021","SNOMEDCT:253900005","medgen:451008","HP:0010957"],"information_content":92.8}
{"id":"MONDO:0019641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pauci-immune glomerulonephritis","equivalent_identifiers":["MONDO:0019641","orphanet:93126","UMLS:C0343196","MEDDRA:10079502","SNOMEDCT:239932005","medgen:575439","icd11.foundation:1359757645"],"information_content":92.8}
{"id":"MONDO:0019642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin D-dependent rickets, type 2","equivalent_identifiers":["MONDO:0019642","orphanet:93160","UMLS:C3536983","UMLS:C4331504","MEDDRA:10016206","MEDDRA:10039122","MEDDRA:10060503","MEDDRA:10060592","MEDDRA:10077943","MEDDRA:10077958","NCIT:C131077","SNOMEDCT:72831007","medgen:760752","icd11.foundation:2041886796"],"information_content":92.8}
{"id":"MONDO:0019644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal dysplasia, unilateral","equivalent_identifiers":["MONDO:0019644","orphanet:93172","UMLS:C0431697","SNOMEDCT:204951002","medgen:140916","HP:0008718"],"information_content":100.0}
{"id":"MONDO:0019645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal dysplasia, bilateral","equivalent_identifiers":["MONDO:0019645","orphanet:93173","UMLS:C0431698","NCIT:C101313","SNOMEDCT:204950001","medgen:609101","HP:0012582"],"information_content":100.0}
{"id":"MONDO:0019648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achondrogenesis","equivalent_identifiers":["MONDO:0019648","DOID:0080043","OMIM.PS:200600","orphanet:932","UMLS:C0001079","MESH:C579878","MEDDRA:10066122","NCIT:C84527","SNOMEDCT:2391001","medgen:84","icd11.foundation:103965243"],"information_content":88.2}
{"id":"MONDO:0019659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pfeiffer syndrome type 1","equivalent_identifiers":["MONDO:0019659","orphanet:93258","UMLS:C5438812","SNOMEDCT:1003877009","medgen:1726699","icd11.foundation:490354109"],"information_content":100.0}
{"id":"MONDO:0019660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pfeiffer syndrome type 2","equivalent_identifiers":["MONDO:0019660","orphanet:93259","UMLS:C5438849","SNOMEDCT:1003916008","medgen:1761826","icd11.foundation:531949642"],"information_content":100.0}
{"id":"MONDO:0019661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pfeiffer syndrome type 3","equivalent_identifiers":["MONDO:0019661","orphanet:93260","UMLS:C5438850","SNOMEDCT:1003918009","medgen:1748161","icd11.foundation:1910513449"],"information_content":100.0}
{"id":"MONDO:0019662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short rib-polydactyly syndrome, Majewski type","equivalent_identifiers":["MONDO:0019662","orphanet:93269","SNOMEDCT:72922008","icd11.foundation:132740256"],"information_content":95.4}
{"id":"MONDO:0019665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monostotic fibrous dysplasia","equivalent_identifiers":["MONDO:0019665","orphanet:93277","UMLS:C0016064","MESH:D005358","NCIT:C53971","SNOMEDCT:89859004","medgen:42020","icd11.foundation:1033883899","HP:0010736"],"information_content":100.0}
{"id":"MONDO:0019666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia, PAPSS2 type","equivalent_identifiers":["MONDO:0019666","DOID:0050812","OMIM:612847","orphanet:93282","UMLS:C2748515","UMLS:C2748516","MESH:C567551","MESH:C567552","SNOMEDCT:719172003","medgen:411234"],"information_content":100.0}
{"id":"MONDO:0019667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia tarda","equivalent_identifiers":["MONDO:0019667","DOID:0112284","orphanet:93284","SNOMEDCT:51952004"],"information_content":87.2}
{"id":"MONDO:0019669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypochondrogenesis","equivalent_identifiers":["MONDO:0019669","DOID:0080044","orphanet:93297","UMLS:C0542428","MESH:C563007","SNOMEDCT:205483007","medgen:107448","icd11.foundation:1494246635"],"information_content":100.0}
{"id":"MONDO:0019670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulnar hemimelia","equivalent_identifiers":["MONDO:0019670","orphanet:93320","UMLS:C0265583","UMLS:C0265599","SNOMEDCT:21893008","SNOMEDCT:44444001","medgen:539346","icd11.foundation:1136383237"],"information_content":92.8}
{"id":"MONDO:0019671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Manus vara","equivalent_identifiers":["MONDO:0019671","orphanet:93321","UMLS:C0265581","UMLS:C0265598","SNOMEDCT:48008009","SNOMEDCT:61900003","medgen:539344","icd11.foundation:653269137"],"information_content":92.8}
{"id":"MONDO:0019672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibular hemimelia","equivalent_identifiers":["MONDO:0019672","orphanet:93323","UMLS:C0265634","SNOMEDCT:76744005","medgen:539380","icd11.foundation:915482054"],"information_content":92.8}
{"id":"MONDO:0019673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postaxial polydactyly type A","equivalent_identifiers":["MONDO:0019673","orphanet:93334","UMLS:C3887487","SNOMEDCT:715704001","medgen:854350","icd11.foundation:476330894","HP:0005696"],"information_content":84.2}
{"id":"MONDO:0019674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postaxial polydactyly type B","equivalent_identifiers":["MONDO:0019674","orphanet:93335","UMLS:C1868120","SNOMEDCT:715707008","medgen:357425","icd11.foundation:366939273"],"information_content":92.8}
{"id":"MONDO:0019676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type B","equivalent_identifiers":["MONDO:0019676","orphanet:93383","UMLS:C1300267","SNOMEDCT:389168002","medgen:722046","icd11.foundation:1534264812"],"information_content":92.8}
{"id":"MONDO:0019677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type E","equivalent_identifiers":["MONDO:0019677","orphanet:93387","UMLS:C4315392","medgen:939359","icd11.foundation:712007423"],"information_content":90.9}
{"id":"MONDO:0019679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly type A7","equivalent_identifiers":["MONDO:0019679","orphanet:93397","UMLS:C4303991","SNOMEDCT:720571006","medgen:929660","icd11.foundation:1487696553"],"information_content":100.0}
{"id":"MONDO:0019681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile sialidosis type 2","equivalent_identifiers":["MONDO:0019681","orphanet:93399","UMLS:C0268229","UMLS:C5681598","SNOMEDCT:111383007","medgen:1825999","icd11.foundation:1730484030"],"information_content":100.0}
{"id":"MONDO:0019682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital sialidosis type 2","equivalent_identifiers":["MONDO:0019682","orphanet:93400","UMLS:C0268231","UMLS:C5681599","SNOMEDCT:27642008","medgen:1843300","icd11.foundation:1994237121"],"information_content":100.0}
{"id":"MONDO:0019701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrodysplasia punctata","equivalent_identifiers":["MONDO:0019701","DOID:2581","orphanet:93442","UMLS:C0008445","UMLS:C1859126","MESH:D002806","MEDDRA:10087150","NCIT:C84632","SNOMEDCT:278715001","SNOMEDCT:360507004","medgen:3052","icd11.foundation:1923035846","HP:0010655"],"information_content":73.9}
{"id":"MONDO:0019722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glomerulopathy","equivalent_identifiers":["MONDO:0019722","orphanet:93548","EFO:1002049","UMLS:C0268731","MEDDRA:10051920","NCIT:C120887","SNOMEDCT:197679002","HP:0100820"],"information_content":72.6}
{"id":"MONDO:0019725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pediatric systemic lupus erythematosus","equivalent_identifiers":["MONDO:0019725","orphanet:93552","UMLS:C1274834","SNOMEDCT:403488004","medgen:698153"],"information_content":100.0}
{"id":"MONDO:0019731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AApoAI amyloidosis","equivalent_identifiers":["MONDO:0019731","orphanet:93560","UMLS:C5680269","medgen:1842920"],"information_content":100.0}
{"id":"MONDO:0019732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALys amyloidosis","equivalent_identifiers":["MONDO:0019732","orphanet:93561","UMLS:C5680270","medgen:1842307","icd11.foundation:831687561"],"information_content":100.0}
{"id":"MONDO:0019733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AFib amyloidosis","equivalent_identifiers":["MONDO:0019733","orphanet:93562","UMLS:C5680267","medgen:1826152","icd11.foundation:141110588"],"information_content":100.0}
{"id":"MONDO:0019736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dense deposit disease","equivalent_identifiers":["MONDO:0019736","orphanet:93571","UMLS:C0268743","UMLS:C4476539","MEDDRA:10083793","NCIT:C123039","SNOMEDCT:59479006","SNOMEDCT:722760002","medgen:124345","HP:0004746"],"information_content":100.0}
{"id":"MONDO:0019740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired thrombotic thrombocytopenic purpura","equivalent_identifiers":["MONDO:0019740","orphanet:93585","UMLS:C2584777","UMLS:C2584778","MESH:C536901","NCIT:C131653","SNOMEDCT:438476003","SNOMEDCT:439007008","medgen:391723"],"information_content":100.0}
{"id":"MONDO:0019742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late-onset nephronophthisis","equivalent_identifiers":["MONDO:0019742","orphanet:93589","UMLS:C5681620","medgen:1842314"],"information_content":100.0}
{"id":"MONDO:0019745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystinuria type A","equivalent_identifiers":["MONDO:0019745","orphanet:93612","UMLS:C1857388","MESH:C565652","medgen:347441","icd11.foundation:1172657361"],"information_content":100.0}
{"id":"MONDO:0019746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystinuria type B","equivalent_identifiers":["MONDO:0019746","orphanet:93613","UMLS:C1857389","medgen:347442","icd11.foundation:491796307"],"information_content":100.0}
{"id":"MONDO:0019756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lobar holoprosencephaly","equivalent_identifiers":["MONDO:0019756","orphanet:93924","UMLS:C0431362","SNOMEDCT:253136007","medgen:96559","icd11.foundation:121649206","HP:0006870"],"information_content":92.8}
{"id":"MONDO:0019757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alobar holoprosencephaly","equivalent_identifiers":["MONDO:0019757","orphanet:93925","UMLS:C0431363","SNOMEDCT:253137003","medgen:140909","icd11.foundation:381193163","HP:0006988"],"information_content":92.8}
{"id":"MONDO:0019759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epispadias","equivalent_identifiers":["MONDO:0019759","orphanet:93928","UMLS:C0014588","MESH:D004842","MEDDRA:10015088","NCIT:C98923","SNOMEDCT:406476007","medgen:41839","icd11.foundation:397402420"],"information_content":92.8}
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{"id":"MONDO:0019766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Porteous type","equivalent_identifiers":["MONDO:0019766","orphanet:93945","UMLS:C5681616","medgen:1842708"],"information_content":100.0}
{"id":"MONDO:0019767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hamel cerebro-palato-cardiac syndrome","equivalent_identifiers":["MONDO:0019767","orphanet:93946","UMLS:C5681615","medgen:1842506","icd11.foundation:1903143844"],"information_content":100.0}
{"id":"MONDO:0019768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Golabi-Ito-hall type","equivalent_identifiers":["MONDO:0019768","orphanet:93947","UMLS:C5681614","medgen:1842639"],"information_content":100.0}
{"id":"MONDO:0019769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability, Sutherland-Haan type","equivalent_identifiers":["MONDO:0019769","orphanet:93950","UMLS:C5681613","medgen:1842836"],"information_content":100.0}
{"id":"MONDO:0019771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oromandibular dystonia","equivalent_identifiers":["MONDO:0019771","DOID:0050843","orphanet:93958","UMLS:C2242577","MEDDRA:10067954","medgen:473560","icd11.foundation:749381409","HP:0012048"],"information_content":100.0}
{"id":"MONDO:0019773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Myelocele","equivalent_identifiers":["MONDO:0019773","DOID:0060326","orphanet:93969","EFO:1001369","UMLS:C0025312","UMLS:C0086664","UMLS:C0391858","UMLS:C0751316","UMLS:C1306753","MESH:D008591","MEDDRA:10027287","MEDDRA:10067085","NCIT:C98874","SNOMEDCT:414667000","SNOMEDCT:82058009","medgen:7538","icd11.foundation:1200528084","ICD10:Q05","HP:0002475"],"information_content":85.5}
{"id":"MONDO:0019780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anotia","equivalent_identifiers":["MONDO:0019780","orphanet:93976","UMLS:C0702139","UMLS:C1408788","MEDDRA:10002654","MEDDRA:10010319","MEDDRA:10010378","SNOMEDCT:57436000","medgen:152377","icd11.foundation:2056675356","HP:0009892"],"information_content":90.9}
{"id":"MONDO:0019781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"astrocytoma","equivalent_identifiers":["MONDO:0019781","OMIM:137800","EFO:0000272","UMLS:C0004114","UMLS:C1842010","UMLS:C2750850","UMLS:C4076130","MESH:C564230","MESH:D001254","MEDDRA:10003571","NCIT:C60781","SNOMEDCT:1157043006","SNOMEDCT:147101000119108","SNOMEDCT:38713004","medgen:438","HP:0009592"],"information_content":67.6}
{"id":"MONDO:0019783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neovascular glaucoma","equivalent_identifiers":["MONDO:0019783","DOID:1687","orphanet:94058","EFO:1001060","UMLS:C0017609","MESH:D015355","MEDDRA:10062891","SNOMEDCT:232086000","medgen:4898","icd11.foundation:700864997"],"information_content":100.0}
{"id":"MONDO:0019784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"12q14 microdeletion syndrome","equivalent_identifiers":["MONDO:0019784","orphanet:94063","UMLS:C4305140","SNOMEDCT:719046005","medgen:930809"],"information_content":100.0}
{"id":"MONDO:0019786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia","equivalent_identifiers":["MONDO:0019786","orphanet:94066","UMLS:C4510007","SNOMEDCT:723676007","medgen:1372948"],"information_content":100.0}
{"id":"MONDO:0019788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-secreting paraganglioma","equivalent_identifiers":["MONDO:0019788","orphanet:94080","UMLS:C4707263","SNOMEDCT:764999002","medgen:1634671"],"information_content":95.4}
{"id":"MONDO:0019790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroleptic malignant syndrome","equivalent_identifiers":["MONDO:0019790","DOID:14464","orphanet:94093","EFO:1001379","UMLS:C0027849","MESH:D009459","MEDDRA:10029281","MEDDRA:10029282","NCIT:C94829","SNOMEDCT:15244003","medgen:10320","icd11.foundation:498240876","ICD10:G21.0","ICD9:333.92"],"information_content":100.0}
{"id":"MONDO:0019791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recessive mitochondrial ataxia syndrome","equivalent_identifiers":["MONDO:0019791","orphanet:94125","UMLS:C4760799","SNOMEDCT:782696001","medgen:1683676"],"information_content":100.0}
{"id":"MONDO:0019795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acalvaria","equivalent_identifiers":["MONDO:0019795","orphanet:945","UMLS:C0702169","UMLS:C2930936","MESH:C535570","SNOMEDCT:203923004","medgen:418951","icd11.foundation:1719021696","HP:0030716"],"information_content":100.0}
{"id":"MONDO:0019797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrodysostosis","equivalent_identifiers":["MONDO:0019797","DOID:14669","OMIM.PS:101800","orphanet:950","UMLS:C0220659","MESH:C538179","MEDDRA:10079856","MEDDRA:10079861","MEDDRA:10079862","SNOMEDCT:66758006","medgen:113097","icd11.foundation:477546932"],"information_content":92.8}
{"id":"MONDO:0019799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatoerythropoietic porphyria","equivalent_identifiers":["MONDO:0019799","DOID:5230","orphanet:95159","UMLS:C0162569","MESH:D017121","NCIT:C84754","SNOMEDCT:111386004","medgen:57940","icd11.foundation:214080046"],"information_content":88.2}
{"id":"MONDO:0019801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adrenal Crisis","equivalent_identifiers":["MONDO:0019801","orphanet:95409","UMLS:C0151467","MEDDRA:10001133","MEDDRA:10001346","MEDDRA:10001389","MEDDRA:10011394","NCIT:C112840","SNOMEDCT:24867002","SNOMEDCT:766986002","medgen:56227","icd11.foundation:114442391"],"information_content":92.8}
{"id":"MONDO:0019802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary short bowel syndrome","equivalent_identifiers":["MONDO:0019802","orphanet:95427","UMLS:C5681579","medgen:1842747"],"information_content":100.0}
{"id":"MONDO:0019803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioma serpiginosum","equivalent_identifiers":["MONDO:0019803","DOID:4028","orphanet:95429","UMLS:C0263637","MEDDRA:10086217","NCIT:C3926","SNOMEDCT:49465005","medgen:75528","icd11.foundation:1724787481","ICD10:L81.7"],"information_content":92.8}
{"id":"MONDO:0019804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tracheomalacia","equivalent_identifiers":["MONDO:0019804","DOID:0060313","orphanet:95430","UMLS:C0392109","UMLS:C0948187","MESH:C557675","MESH:D055090","MEDDRA:10010654","MEDDRA:10056397","NCIT:C98634","SNOMEDCT:95434006","SNOMEDCT:95467005","medgen:140261","icd11.foundation:1616705280","icd11.foundation:303133490","ICD10:Q32.0","HP:0002779"],"information_content":89.4}
{"id":"MONDO:0019805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"twin to twin transfusion syndrome","equivalent_identifiers":["MONDO:0019805","DOID:13576","orphanet:95431","EFO:1001221","UMLS:C2909036","MESH:D005330","MEDDRA:10058328","NCIT:C113824","SNOMEDCT:13404009","medgen:777055","icd11.foundation:850604370","ICD10:O43.02","HP:0031110"],"information_content":95.4}
{"id":"MONDO:0019807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesocardia","equivalent_identifiers":["MONDO:0019807","orphanet:95443","UMLS:C0265865","SNOMEDCT:16567006","medgen:488817","icd11.foundation:1251061251","HP:0011599"],"information_content":100.0}
{"id":"MONDO:0019808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic valve atresia","equivalent_identifiers":["MONDO:0019808","orphanet:95448","UMLS:C0265843","MEDDRA:10066801","NCIT:C98818","SNOMEDCT:51442005","medgen:451016","icd11.foundation:1700740306","HP:0010883"],"information_content":95.4}
{"id":"MONDO:0019810","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxic epidermal necrolysis","equivalent_identifiers":["MONDO:0019810","orphanet:95455","EFO:0004775","UMLS:C0014518","MEDDRA:10025166","MEDDRA:10025167","MEDDRA:10025168","MEDDRA:10028849","MEDDRA:10043221","MEDDRA:10044223","NCIT:C79777","SNOMEDCT:23067006","SNOMEDCT:768962006","medgen:4501","icd11.foundation:1575072695","icd11.foundation:195467267"],"information_content":90.9}
{"id":"MONDO:0019813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital tricuspid stenosis","equivalent_identifiers":["MONDO:0019813","orphanet:95459","UMLS:C0265836","MEDDRA:10010656","NCIT:C197886","SNOMEDCT:36233006","medgen:539527","icd11.foundation:1996822362"],"information_content":100.0}
{"id":"MONDO:0019828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary stalk interruption syndrome","equivalent_identifiers":["MONDO:0019828","orphanet:95496","UMLS:C3279571","UMLS:C4053775","MEDDRA:10088621","NCIT:C121150","NCIT:C121151","SNOMEDCT:715727009","medgen:883774","icd11.foundation:1474283222","HP:0011755"],"information_content":95.4}
{"id":"MONDO:0019838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenohypophysitis","equivalent_identifiers":["MONDO:0019838","orphanet:95512","UMLS:C5190880","SNOMEDCT:783243008","medgen:1677203"],"information_content":100.0}
{"id":"MONDO:0019839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panhypophysitis","equivalent_identifiers":["MONDO:0019839","orphanet:95513","UMLS:C5190786","SNOMEDCT:783016009","medgen:1674527"],"information_content":100.0}
{"id":"MONDO:0019845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iatrogenic or traumatic pituitary deficiency","equivalent_identifiers":["MONDO:0019845","orphanet:95619","UMLS:C0342400","SNOMEDCT:237699005","medgen:575005"],"information_content":100.0}
{"id":"MONDO:0019846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acquired CDI","equivalent_identifiers":["MONDO:0019846","orphanet:95626","UMLS:C5680256","medgen:1843437","icd11.foundation:1677009817"],"information_content":100.0}
{"id":"MONDO:0019848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior hypospadias","equivalent_identifiers":["MONDO:0019848","orphanet:95706","UMLS:C5231010","SNOMEDCT:818963004","medgen:1684864"],"information_content":100.0}
{"id":"MONDO:0019849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated micropenis","equivalent_identifiers":["MONDO:0019849","orphanet:95707","UMLS:C5681560","medgen:1843275"],"information_content":100.0}
{"id":"MONDO:0019854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid ectopia","equivalent_identifiers":["MONDO:0019854","orphanet:95712","UMLS:C0266283","UMLS:C0345447","MEDDRA:10069503","NCIT:C132051","SNOMEDCT:214660000","SNOMEDCT:268302006","medgen:78591","icd11.foundation:458251984","HP:0100028"],"information_content":90.9}
{"id":"MONDO:0019855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"athyreosis","equivalent_identifiers":["MONDO:0019855","orphanet:95713","UMLS:C0749420","UMLS:C4020805","MEDDRA:10090555","NCIT:C27112","SNOMEDCT:92978002","medgen:155447","HP:0008191"],"information_content":95.4}
{"id":"MONDO:0019857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies","equivalent_identifiers":["MONDO:0019857","orphanet:95715","UMLS:C4273914","SNOMEDCT:717333002","medgen:903571"],"information_content":100.0}
{"id":"MONDO:0019858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic congenital hypothyroidism","equivalent_identifiers":["MONDO:0019858","orphanet:95717","UMLS:C4273913","SNOMEDCT:717334008","medgen:901252"],"information_content":100.0}
{"id":"MONDO:0019860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid hemiagenesis","equivalent_identifiers":["MONDO:0019860","orphanet:95719","UMLS:C4023190","MEDDRA:10077609","SNOMEDCT:715734006","medgen:868785","icd11.foundation:872920513","HP:0011780"],"information_content":100.0}
{"id":"MONDO:0019861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid hypoplasia","equivalent_identifiers":["MONDO:0019861","orphanet:95720","UMLS:C0151516","MEDDRA:10065938","SNOMEDCT:367524008","medgen:57720","icd11.foundation:936952450","HP:0005990"],"information_content":95.4}
{"id":"MONDO:0019867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 8","equivalent_identifiers":["MONDO:0019867","orphanet:96061","UMLS:C1096527","MESH:C537940","MEDDRA:10053916","SNOMEDCT:717335009","medgen:797340"],"information_content":100.0}
{"id":"MONDO:0019876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"8p inverted duplication/deletion syndrome","equivalent_identifiers":["MONDO:0019876","orphanet:96092","UMLS:C4273676","SNOMEDCT:718188007","medgen:906101"],"information_content":100.0}
{"id":"MONDO:0019880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal trisomy 5q","equivalent_identifiers":["MONDO:0019880","orphanet:96097","UMLS:C4706363","SNOMEDCT:763274002","medgen:1646186"],"information_content":100.0}
{"id":"MONDO:0019891","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monosomy 22","equivalent_identifiers":["MONDO:0019891","orphanet:96123","UMLS:C0795878","SNOMEDCT:787411009","medgen:208644"],"information_content":95.4}
{"id":"MONDO:0019893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 19p13.3","equivalent_identifiers":["MONDO:0019893","orphanet:96129","UMLS:C4749277","SNOMEDCT:770411000","medgen:1665859"],"information_content":100.0}
{"id":"MONDO:0019896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kleefstra syndrome due to 9q34 microdeletion","equivalent_identifiers":["MONDO:0019896","orphanet:96147"],"information_content":100.0}
{"id":"MONDO:0019897","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal monosomy 12q","equivalent_identifiers":["MONDO:0019897","orphanet:96149","UMLS:C5438460","SNOMEDCT:897564008","medgen:1761314"],"information_content":100.0}
{"id":"MONDO:0019902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monosomy 13q34","equivalent_identifiers":["MONDO:0019902","orphanet:96168","UMLS:C4707797","SNOMEDCT:766716004","medgen:1631901"],"information_content":100.0}
{"id":"MONDO:0019907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ring chromosome 13","equivalent_identifiers":["MONDO:0019907","orphanet:96176","UMLS:C0795847","UMLS:C2931808","MESH:C538303","NCIT:C179703","SNOMEDCT:726723004","medgen:444146"],"information_content":100.0}
{"id":"MONDO:0019910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal uniparental disomy of chromosome 2","equivalent_identifiers":["MONDO:0019910","orphanet:96179","UMLS:C4707718","SNOMEDCT:766237006","medgen:1631626","icd11.foundation:2067230711"],"information_content":100.0}
{"id":"MONDO:0019911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal uniparental disomy of chromosome 4","equivalent_identifiers":["MONDO:0019911","orphanet:96180","UMLS:C4707719","SNOMEDCT:766238001","medgen:1644554","icd11.foundation:358848660"],"information_content":100.0}
{"id":"MONDO:0019912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal uniparental disomy of chromosome 6","equivalent_identifiers":["MONDO:0019912","orphanet:96181","UMLS:C4707720","SNOMEDCT:766239009","medgen:1638411","icd11.foundation:423779048"],"information_content":100.0}
{"id":"MONDO:0019913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silver-Russell syndrome due to maternal uniparental disomy of chromosome 7","equivalent_identifiers":["MONDO:0019913","orphanet:96182","UMLS:C5680247","medgen:1826074"],"information_content":100.0}
{"id":"MONDO:0019914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal uniparental disomy of chromosome 9","equivalent_identifiers":["MONDO:0019914","orphanet:96183","UMLS:C4707721","SNOMEDCT:766240006","medgen:1634619","icd11.foundation:102102686"],"information_content":100.0}
{"id":"MONDO:0019915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal uniparental disomy of chromosome 14","equivalent_identifiers":["MONDO:0019915","orphanet:96184","UMLS:C5680248","medgen:1841563","icd11.foundation:171193570"],"information_content":100.0}
{"id":"MONDO:0019917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maternal uniparental disomy of chromosome 20","equivalent_identifiers":["MONDO:0019917","DOID:0111714","OMIM:617352","orphanet:96186","UMLS:C4275029","SNOMEDCT:715735007","medgen:909388","icd11.foundation:700797720"],"information_content":100.0}
{"id":"MONDO:0019920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paternal uniparental disomy of chromosome 5","equivalent_identifiers":["MONDO:0019920","orphanet:96190","UMLS:C4749377","SNOMEDCT:770669004","medgen:1652849","icd11.foundation:1224981751"],"information_content":100.0}
{"id":"MONDO:0019921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paternal uniparental disomy of chromosome 6","equivalent_identifiers":["MONDO:0019921","orphanet:96191","UMLS:C4749378","SNOMEDCT:770670003","medgen:1662050","icd11.foundation:1267556610"],"information_content":100.0}
{"id":"MONDO:0019926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X small rings","equivalent_identifiers":["MONDO:0019926","orphanet:96201","UMLS:C4707824","SNOMEDCT:766760004","medgen:1641475"],"information_content":100.0}
{"id":"MONDO:0019927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth hormone-producing pituitary gland neoplasm","equivalent_identifiers":["MONDO:0019927","UMLS:C4018860","medgen:866320","HP:0011760"],"information_content":89.4}
{"id":"MONDO:0019928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"XXXY syndrome","equivalent_identifiers":["MONDO:0019928","orphanet:96263","UMLS:C0265498","MEDDRA:10048228","NCIT:C89799","SNOMEDCT:78317008","medgen:452344"],"information_content":100.0}
{"id":"MONDO:0019929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"49,XXXXY syndrome","equivalent_identifiers":["MONDO:0019929","orphanet:96264","UMLS:C0265499","NCIT:C185635","SNOMEDCT:38847009","medgen:75573"],"information_content":100.0}
{"id":"MONDO:0019930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leydig cell hypoplasia due to complete LH resistance","equivalent_identifiers":["MONDO:0019930","DOID:0112260","orphanet:96265","UMLS:C5438974","SNOMEDCT:1003437009","medgen:1776152"],"information_content":100.0}
{"id":"MONDO:0019931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leydig cell hypoplasia due to partial LH resistance","equivalent_identifiers":["MONDO:0019931","DOID:0112261","orphanet:96266","UMLS:C5438975","SNOMEDCT:1003438004","medgen:1739565"],"information_content":100.0}
{"id":"MONDO:0019933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromegaly","equivalent_identifiers":["MONDO:0019933","DOID:2449","orphanet:963","EFO:1001485","UMLS:C0001206","UMLS:C0235986","MESH:C531600","MESH:D000172","MEDDRA:10000599","MEDDRA:10018227","MEDDRA:10018750","MEDDRA:10018752","MEDDRA:10041334","MEDDRA:10041339","MEDDRA:10041340","NCIT:C112834","NCIT:C84533","SNOMEDCT:74107003","medgen:1304","HP:0000845"],"information_content":95.4}
{"id":"MONDO:0019941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory and autonomic neuropathy type 2","equivalent_identifiers":["MONDO:0019941","DOID:0070161","orphanet:970","UMLS:C0020072","UMLS:C5574675","SNOMEDCT:398148000","medgen:1800880"],"information_content":90.9}
{"id":"MONDO:0019942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal arthrogryposis","equivalent_identifiers":["MONDO:0019942","DOID:0050646","OMIM.PS:108120","orphanet:97120","UMLS:C0265213","MEDDRA:10083954","SNOMEDCT:24269006","medgen:120512","icd11.foundation:1265239690","HP:0005684"],"information_content":77.1}
{"id":"MONDO:0019943","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary continuous muscle fiber activity","equivalent_identifiers":["MONDO:0019943","orphanet:972","UMLS:C1834559","MESH:C563545","SNOMEDCT:1231178006","medgen:331775"],"information_content":100.0}
{"id":"MONDO:0019944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eisenmenger syndrome","equivalent_identifiers":["MONDO:0019944","orphanet:97214","EFO:0009200","UMLS:C0013743","MESH:D004541","MEDDRA:10058554","NCIT:C84390","SNOMEDCT:204311009","SNOMEDCT:445928005","medgen:4479","icd11.foundation:581886860"],"information_content":100.0}
{"id":"MONDO:0019945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"solar urticaria","equivalent_identifiers":["MONDO:0019945","orphanet:97230","UMLS:C0263610","MESH:D000092130","MEDDRA:10024467","MEDDRA:10034943","MEDDRA:10041307","MEDDRA:10046748","MEDDRA:10072973","SNOMEDCT:10347006","medgen:538004","icd11.foundation:64163683","HP:0410137"],"information_content":100.0}
{"id":"MONDO:0019947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rippling muscle disease 2","equivalent_identifiers":["MONDO:0019947","DOID:0060255","OMIM:606072","orphanet:97238","UMLS:C1832560","NCIT:C148325","medgen:371357"],"information_content":100.0}
{"id":"MONDO:0019948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reducing body myopathy","equivalent_identifiers":["MONDO:0019948","DOID:0080090","orphanet:97239","UMLS:C0270970","SNOMEDCT:42779002","medgen:543081","icd11.foundation:397698784"],"information_content":92.8}
{"id":"MONDO:0019949","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"zebra body myopathy","equivalent_identifiers":["MONDO:0019949","orphanet:97240","UMLS:C0270969","SNOMEDCT:34513009","medgen:543080","icd11.foundation:1699813614"],"information_content":100.0}
{"id":"MONDO:0019951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rigid spine syndrome","equivalent_identifiers":["MONDO:0019951","orphanet:97244","MESH:C535683","icd11.foundation:801727141"],"information_content":92.8}
{"id":"MONDO:0019953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mega-cisterna magna","equivalent_identifiers":["MONDO:0019953","orphanet:97252","UMLS:C1853377","UMLS:C3164501","MEDDRA:10081427","SNOMEDCT:447739003","medgen:344031","HP:0002280"],"information_content":100.0}
{"id":"MONDO:0019955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GRFoma","equivalent_identifiers":["MONDO:0019955","orphanet:97261","UMLS:C0346406","medgen:577391","icd11.foundation:1245945716"],"information_content":100.0}
{"id":"MONDO:0019956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalitis","equivalent_identifiers":["MONDO:0019956","DOID:9588","orphanet:97275","UMLS:C0014038","MESH:D004660","MEDDRA:10014581","MEDDRA:10014601","MEDDRA:10076379","NCIT:C26760","SNOMEDCT:45170000","medgen:4027","HP:0002383"],"information_content":73.7}
{"id":"MONDO:0019957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PPoma","equivalent_identifiers":["MONDO:0019957","orphanet:97278","UMLS:C0346407","NCIT:C67453","SNOMEDCT:255039001","medgen:577392","icd11.foundation:1180851464"],"information_content":100.0}
{"id":"MONDO:0019959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucagonoma","equivalent_identifiers":["MONDO:0019959","orphanet:97280","EFO:1000441","UMLS:C0017689","MESH:D005935","MEDDRA:10018404","NCIT:C3062","NCIT:C95597","SNOMEDCT:128855009","SNOMEDCT:16424000","SNOMEDCT:302823005","medgen:4908","icd11.foundation:1918063179","HP:0030404"],"information_content":90.9}
{"id":"MONDO:0019960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"VIPoma","equivalent_identifiers":["MONDO:0019960","DOID:5574","orphanet:97282","EFO:1000622","UMLS:C0011993","MESH:D003969","MEDDRA:10047430","NCIT:C26749","SNOMEDCT:253005002","medgen:41532","icd11.foundation:20634476"],"information_content":88.2}
{"id":"MONDO:0019962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid lymphoma","equivalent_identifiers":["MONDO:0019962","DOID:10011","orphanet:97285","UMLS:C1336753","NCIT:C5265","SNOMEDCT:278051002","medgen:234947","icd11.foundation:571063415"],"information_content":87.2}
{"id":"MONDO:0019963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchial endocrine tumor","equivalent_identifiers":["MONDO:0019963","orphanet:97287"],"information_content":100.0}
{"id":"MONDO:0019964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thymic neuroendocrine tumor","equivalent_identifiers":["MONDO:0019964","orphanet:97289","UMLS:C1336746","MEDDRA:10091079","MEDDRA:10091080","NCIT:C6430","HP:0034954"],"information_content":87.2}
{"id":"MONDO:0019967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kienbock disease","equivalent_identifiers":["MONDO:0019967","orphanet:97332","UMLS:C0022682","UMLS:C1456737","UMLS:C4759857","UMLS:C4759858","MEDDRA:10064242","SNOMEDCT:360466009","SNOMEDCT:367356000","SNOMEDCT:787484007","SNOMEDCT:84062004","medgen:44028","HP:0010889"],"information_content":100.0}
{"id":"MONDO:0019969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panner disease","equivalent_identifiers":["MONDO:0019969","orphanet:97336","UMLS:C4759831","MEDDRA:10081732","SNOMEDCT:268025003","medgen:1673235"],"information_content":100.0}
{"id":"MONDO:0019970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sinding-Larsen-Johansson disease","equivalent_identifiers":["MONDO:0019970","orphanet:97337","UMLS:C1504517","MEDDRA:10063585","medgen:1672493","icd11.foundation:1733785551"],"information_content":100.0}
{"id":"MONDO:0019971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melanoma of soft tissue","equivalent_identifiers":["MONDO:0019971","orphanet:97338"],"information_content":100.0}
{"id":"MONDO:0019972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dural sinus malformation","equivalent_identifiers":["MONDO:0019972","orphanet:97339","UMLS:C3839148","SNOMEDCT:703193000","medgen:824993","icd11.foundation:454640405"],"information_content":100.0}
{"id":"MONDO:0019973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent placoid maculopathy","equivalent_identifiers":["MONDO:0019973","orphanet:97341","UMLS:C4304823","SNOMEDCT:719297006","medgen:930492","icd11.foundation:1143591468"],"information_content":100.0}
{"id":"MONDO:0019975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pellagra","equivalent_identifiers":["MONDO:0019975","DOID:8457","orphanet:97352","EFO:0008570","UMLS:C0030783","UMLS:C4317126","MESH:D010383","MEDDRA:10029400","MEDDRA:10034231","MEDDRA:10080738","SNOMEDCT:418186002","SNOMEDCT:418279001","medgen:45364","icd11.foundation:1108993080","ICD10:E52","ICD9:265.2","HP:0100497"],"information_content":95.4}
{"id":"MONDO:0019977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parkinsonism with dementia of Guadeloupe","equivalent_identifiers":["MONDO:0019977","orphanet:97355","UMLS:C4275027","SNOMEDCT:715737004","medgen:899794","icd11.foundation:773801248"],"information_content":100.0}
{"id":"MONDO:0019978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Robinow syndrome","equivalent_identifiers":["MONDO:0019978","DOID:0060254","OMIM.PS:268310","orphanet:97360","UMLS:C0265205","MESH:C562492","MEDDRA:10084325","NCIT:C85048","medgen:78535","icd11.foundation:1010745722","ICD10:Q87.19"],"information_content":87.2}
{"id":"MONDO:0019979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypoplasia, unilateral","equivalent_identifiers":["MONDO:0019979","orphanet:97361","UMLS:C0431691","SNOMEDCT:204948009","medgen:609098","HP:0012583"],"information_content":100.0}
{"id":"MONDO:0019980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypoplasia, bilateral","equivalent_identifiers":["MONDO:0019980","orphanet:97362","UMLS:C0431692","SNOMEDCT:268232000","medgen:609099","HP:0012584"],"information_content":100.0}
{"id":"MONDO:0019981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"unilateral multicystic dysplastic kidney","equivalent_identifiers":["MONDO:0019981","orphanet:97363","UMLS:C1567426","SNOMEDCT:1187460003","medgen:292613"],"information_content":100.0}
{"id":"MONDO:0019982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral multicystic dysplastic kidney","equivalent_identifiers":["MONDO:0019982","orphanet:97364","UMLS:C1840451","MESH:C537373","SNOMEDCT:717749002","medgen:333563"],"information_content":100.0}
{"id":"MONDO:0019992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohypoparathyroidism","equivalent_identifiers":["MONDO:0019992","DOID:4184","orphanet:97593","UMLS:C0033806","MESH:D011547","MEDDRA:10037126","NCIT:C99027","SNOMEDCT:58976002","medgen:46178","icd11.foundation:1225154856","ICD10:E20.1","HP:0000852"],"information_content":88.2}
{"id":"MONDO:0020007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"absence of the pulmonary artery","equivalent_identifiers":["MONDO:0020007","orphanet:980","UMLS:C0265905","SNOMEDCT:86252004","medgen:120560","HP:0004960"],"information_content":95.4}
{"id":"MONDO:0020048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"internal carotid agenesis","equivalent_identifiers":["MONDO:0020048","orphanet:981","UMLS:C4302907","SNOMEDCT:722004001","medgen:928576","icd11.foundation:368564890"],"information_content":100.0}
{"id":"MONDO:0020064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary valve agenesis","equivalent_identifiers":["MONDO:0020064","orphanet:982","UMLS:C0265831","UMLS:C0344983","SNOMEDCT:253596003","SNOMEDCT:6996004","medgen:576671","HP:0005134"],"information_content":92.8}
{"id":"MONDO:0020074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive myoclonus epilepsy","equivalent_identifiers":["MONDO:0020074","DOID:891","OMIM:310370","OMIM.PS:254800","orphanet:98261","UMLS:C0751778","UMLS:C4021759","MESH:D020191","MEDDRA:10089676","NCIT:C7636","SNOMEDCT:1208972001","SNOMEDCT:192992007","SNOMEDCT:267581004","SNOMEDCT:37356005","medgen:199732","icd11.foundation:173613583","HP:0002123"],"information_content":80.9}
{"id":"MONDO:0020076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloproliferative neoplasm","equivalent_identifiers":["MONDO:0020076","DOID:2226","orphanet:98274","EFO:0002428","UMLS:C0027022","UMLS:C1292778","MESH:D009196","MEDDRA:10013238","MEDDRA:10028576","MEDDRA:10028577","MEDDRA:10077465","NCIT:C4345","SNOMEDCT:109993000","SNOMEDCT:414794006","SNOMEDCT:425333006","medgen:220955","ICD10:D47.1","HP:0005547"],"information_content":66.7}
{"id":"MONDO:0020108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune hemolytic anemia","equivalent_identifiers":["MONDO:0020108","DOID:718","OMIM:205700","orphanet:98375","EFO:1001264","UMLS:C0002880","MESH:D000744","MEDDRA:10002046","MEDDRA:10002285","MEDDRA:10003822","MEDDRA:10003825","MEDDRA:10073784","MEDDRA:10073785","NCIT:C34378","SNOMEDCT:413603009","medgen:1918","icd11.foundation:1834341306","ICD9:283.0","HP:0001890"],"information_content":79.0}
{"id":"MONDO:0020120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal muscle disorder","equivalent_identifiers":["MONDO:0020120","orphanet:98472","UMLS:C1533847","SNOMEDCT:75047002","medgen:735900","HP:0003756"],"information_content":58.7}
{"id":"MONDO:0020121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy","equivalent_identifiers":["MONDO:0020121","DOID:9884","orphanet:98473","UMLS:C0026850","UMLS:C1864711","MESH:D009136","MEDDRA:10028356","MEDDRA:10028357","NCIT:C84910","SNOMEDCT:193225000","SNOMEDCT:73297009","medgen:44527","icd11.foundation:1464662404","HP:0003560"],"information_content":65.1}
{"id":"MONDO:0020153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptophthalmia","equivalent_identifiers":["MONDO:0020153","DOID:0111716","orphanet:98562","UMLS:C0311249","MEDDRA:10011497","NCIT:C124520","SNOMEDCT:400951005","medgen:81386","icd11.foundation:740223582","ICD10:Q11.2","ICD9:743.06","HP:0001126"],"information_content":85.5}
{"id":"MONDO:0020248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitreoretinal degeneration","equivalent_identifiers":["MONDO:0020248","UMLS:C0344290","UMLS:C1850109","SNOMEDCT:247182006","medgen:87480","HP:0007773"],"information_content":73.0}
{"id":"MONDO:0020283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uveitis","equivalent_identifiers":["MONDO:0020283","DOID:13141","orphanet:98715","EFO:1001231","UMLS:C0042164","MESH:D014605","MEDDRA:10046851","MEDDRA:10046855","NCIT:C26909","SNOMEDCT:128473001","medgen:52961","ICD10:H20.9","HP:0000554"],"information_content":74.3}
{"id":"MONDO:0020290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial atrioventricular septal defect","equivalent_identifiers":["MONDO:0020290","DOID:0050651","OMIM.PS:606215","orphanet:98722","UMLS:C0014116","UMLS:C1389016","UMLS:C4732742","MESH:D004694","MEDDRA:10014656","MEDDRA:10014658","MEDDRA:10057460","NCIT:C101029","SNOMEDCT:15459006","ICD9:745.6","HP:0006695"],"information_content":81.7}
{"id":"MONDO:0020291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoplastic right heart syndrome","equivalent_identifiers":["MONDO:0020291","DOID:0070315","orphanet:98723","UMLS:C0265856","UMLS:C0344963","MEDDRA:10050053","MEDDRA:10064962","NCIT:C99053","SNOMEDCT:268180007","SNOMEDCT:39589002","medgen:83376","ICD10:Q22.6","HP:0010954"],"information_content":90.9}
{"id":"MONDO:0020295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital pulmonary veins anomaly","equivalent_identifiers":["MONDO:0020295","orphanet:98729","UMLS:C0265914","NCIT:C110942","SNOMEDCT:111322000","SNOMEDCT:128585006","SNOMEDCT:199113001","HP:0011718"],"information_content":80.2}
{"id":"MONDO:0020296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital arteriovenous fistula","equivalent_identifiers":["MONDO:0020296","orphanet:98731","UMLS:C0003855","UMLS:C0332965","MESH:D001164","MEDDRA:10003226","MEDDRA:10010374","MEDDRA:10016719","NCIT:C35377","NCIT:C36192","SNOMEDCT:128617001","SNOMEDCT:234148007","SNOMEDCT:439470001","medgen:137676","HP:0004947"],"information_content":90.9}
{"id":"MONDO:0020298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15","equivalent_identifiers":["MONDO:0020298","orphanet:98754","UMLS:C5680343","medgen:1826079"],"information_content":100.0}
{"id":"MONDO:0020300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant nocturnal frontal lobe epilepsy","equivalent_identifiers":["MONDO:0020300","DOID:0060681","orphanet:98784","UMLS:C3696898","MESH:C579932","SNOMEDCT:698021005","medgen:777188","icd11.foundation:1004734747"],"information_content":88.2}
{"id":"MONDO:0020301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prader-Willi syndrome due to paternal 15q11q13 deletion","equivalent_identifiers":["MONDO:0020301","orphanet:98793","UMLS:C5681699","medgen:1826129"],"information_content":92.8}
{"id":"MONDO:0020302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Angelman syndrome due to maternal 15q11q13 deletion","equivalent_identifiers":["MONDO:0020302","orphanet:98794","UMLS:C5566334","SNOMEDCT:1162462009","medgen:1797757"],"information_content":100.0}
{"id":"MONDO:0020303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Angelman syndrome due to paternal uniparental disomy of chromosome 15","equivalent_identifiers":["MONDO:0020303","orphanet:98795","UMLS:C5680342","medgen:1826078"],"information_content":100.0}
{"id":"MONDO:0020304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isochromosomy Yp","equivalent_identifiers":["MONDO:0020304","orphanet:98797","UMLS:C4707793","SNOMEDCT:766708008","medgen:1640451"],"information_content":100.0}
{"id":"MONDO:0020305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isochromosomy Yq","equivalent_identifiers":["MONDO:0020305","orphanet:98798","UMLS:C4749291","SNOMEDCT:770542008","medgen:1665766"],"information_content":100.0}
{"id":"MONDO:0020310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial focal epilepsy with variable foci","equivalent_identifiers":["MONDO:0020310","DOID:0081420","OMIM.PS:604364","orphanet:98820","UMLS:C1858477","MESH:C565785","SNOMEDCT:764522009","medgen:348951","icd11.foundation:855404450"],"information_content":89.4}
{"id":"MONDO:0020311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic myelomonocytic leukemia","equivalent_identifiers":["MONDO:0020311","DOID:0080188","orphanet:98823","EFO:1001779","UMLS:C0023480","UMLS:C1337071","UMLS:C1337072","MESH:D015477","MEDDRA:10009018","MEDDRA:10054350","NCIT:C3178","SNOMEDCT:127225006","SNOMEDCT:128831004","medgen:44125","icd11.foundation:2073226578","HP:0012325"],"information_content":83.6}
{"id":"MONDO:0020316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)","equivalent_identifiers":["MONDO:0020316","orphanet:98829","UMLS:C5395080","NCIT:C9287","SNOMEDCT:838355002","medgen:1716406","icd11.foundation:808954959"],"information_content":84.8}
{"id":"MONDO:0020317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloid leukemia with 11q23 abnormalities","equivalent_identifiers":["MONDO:0020317","orphanet:98831","UMLS:C1292775","UMLS:C5787553","NCIT:C82403","SNOMEDCT:1157157006","SNOMEDCT:128829008","SNOMEDCT:444911000","medgen:266234"],"information_content":89.4}
{"id":"MONDO:0020320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute myeloblastic leukemia with maturation","equivalent_identifiers":["MONDO:0020320","DOID:0081087","orphanet:98834","EFO:0003028","UMLS:C1879321","NCIT:C3250","SNOMEDCT:103691009","SNOMEDCT:359648001","medgen:361829"],"information_content":92.8}
{"id":"MONDO:0020321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute undifferentiated leukemia","equivalent_identifiers":["MONDO:0020321","orphanet:98835","UMLS:C0280141","UMLS:C0563629","UMLS:C1282947","MEDDRA:10073479","MEDDRA:10073482","NCIT:C9298","SNOMEDCT:1264458000","SNOMEDCT:359631009","medgen:79081"],"information_content":90.9}
{"id":"MONDO:0020323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary mediastinal large B-cell lymphoma","equivalent_identifiers":["MONDO:0020323","DOID:0080210","orphanet:98838","UMLS:C1292754","MEDDRA:10023699","MEDDRA:10036710","MEDDRA:10036711","MEDDRA:10036712","NCIT:C9280","SNOMEDCT:128801005","SNOMEDCT:444910004","medgen:714984","icd11.foundation:950282079","ICD10:C85.2"],"information_content":85.5}
{"id":"MONDO:0020324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intravascular large B-cell lymphoma","equivalent_identifiers":["MONDO:0020324","DOID:0081311","orphanet:98839","UMLS:C0334660","MEDDRA:10069643","NCIT:C4342","SNOMEDCT:1157162007","SNOMEDCT:255102004","SNOMEDCT:399648005","medgen:90821","icd11.foundation:952730197"],"information_content":88.2}
{"id":"MONDO:0020326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphomatoid papulosis","equivalent_identifiers":["MONDO:0020326","orphanet:98842","EFO:1000341","UMLS:C0206182","MESH:D017731","MEDDRA:10056670","NCIT:C3721","SNOMEDCT:31047003","SNOMEDCT:397353001","medgen:61534","icd11.foundation:1791207220"],"information_content":86.3}
{"id":"MONDO:0020331","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"indolent systemic mastocytosis","equivalent_identifiers":["MONDO:0020331","DOID:4660","orphanet:98848","UMLS:C0272203","MEDDRA:10056452","NCIT:C9286","SNOMEDCT:397356009","SNOMEDCT:70910003","medgen:82897","icd11.foundation:353283231"],"information_content":92.8}
{"id":"MONDO:0020332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SM-AHNMD","equivalent_identifiers":["MONDO:0020332","DOID:4797","orphanet:98849","EFO:1000559","UMLS:C1301365","MEDDRA:10089807","MEDDRA:10089906","NCIT:C9284","SNOMEDCT:397015000","SNOMEDCT:397357000","medgen:226985"],"information_content":92.8}
{"id":"MONDO:0020333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aggressive systemic mastocytosis","equivalent_identifiers":["MONDO:0020333","DOID:4798","orphanet:98850","UMLS:C1112486","MEDDRA:10056453","MEDDRA:10089805","NCIT:C9285","SNOMEDCT:397008008","SNOMEDCT:397358005","SNOMEDCT:716655008","medgen:206813","icd11.foundation:870477963","ICD10:C96.21"],"information_content":95.4}
{"id":"MONDO:0020336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Emery-Dreifuss muscular dystrophy","equivalent_identifiers":["MONDO:0020336","orphanet:98853"],"information_content":89.4}
{"id":"MONDO:0020337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital dyserythropoietic anemia type 1","equivalent_identifiers":["MONDO:0020337","DOID:0111396","orphanet:98869","UMLS:C0271933","SNOMEDCT:59548005","medgen:82891"],"information_content":92.8}
{"id":"MONDO:0020340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral perisylvian polymicrogyria","equivalent_identifiers":["MONDO:0020340","DOID:0080924","orphanet:98889","UMLS:C1845668","MESH:C536658","MEDDRA:10082716","medgen:337000","icd11.foundation:1882677643","HP:0032407"],"information_content":87.2}
{"id":"MONDO:0020341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periventricular nodular heterotopia","equivalent_identifiers":["MONDO:0020341","DOID:0050454","OMIM.PS:300049","orphanet:98892","UMLS:C1868720","MESH:D054091","MEDDRA:10066854","NCIT:C202072","SNOMEDCT:816068000","medgen:358387","icd11.foundation:20200096","HP:0032388"],"information_content":85.5}
{"id":"MONDO:0020344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postsynaptic congenital myasthenic syndrome","equivalent_identifiers":["MONDO:0020344","orphanet:98913","UMLS:C0751883","medgen:199758"],"information_content":80.6}
{"id":"MONDO:0020347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute inflammatory demyelinating polyradiculoneuropathy","equivalent_identifiers":["MONDO:0020347","orphanet:98916","UMLS:C4551910","MEDDRA:10067604","MEDDRA:10067898","MEDDRA:10087910","NCIT:C116926","SNOMEDCT:26261000119109","medgen:1648220","icd11.foundation:1196874419"],"information_content":100.0}
{"id":"MONDO:0020351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Blake pouch cyst","equivalent_identifiers":["MONDO:0020351","orphanet:98922","UMLS:C3662124","MEDDRA:10090502","SNOMEDCT:609529006","medgen:783279","HP:0033140"],"information_content":100.0}
{"id":"MONDO:0020352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple system atrophy, parkinsonian type","equivalent_identifiers":["MONDO:0020352","orphanet:98933","UMLS:C5554235","MEDDRA:10086132","medgen:1842393","icd11.foundation:296753000"],"information_content":100.0}
{"id":"MONDO:0020354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fundus coloboma","equivalent_identifiers":["MONDO:0020354","orphanet:98942","UMLS:C0239054","UMLS:C0240896","UMLS:C4708599","MEDDRA:10017522","MEDDRA:10057402","SNOMEDCT:204192005","SNOMEDCT:39302008","SNOMEDCT:768932000","medgen:1643994","icd11.foundation:20223105","HP:0000567"],"information_content":95.4}
{"id":"MONDO:0020355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lens coloboma","equivalent_identifiers":["MONDO:0020355","orphanet:98943","UMLS:C0344516","SNOMEDCT:204134008","medgen:451043","icd11.foundation:1368271881","HP:0100719"],"information_content":100.0}
{"id":"MONDO:0020356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Iris coloboma","equivalent_identifiers":["MONDO:0020356","orphanet:98944","UMLS:C0240063","NCIT:C98879","SNOMEDCT:9446007","medgen:116097","icd11.foundation:1552972259","HP:0000612"],"information_content":100.0}
{"id":"MONDO:0020357","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cleft eyelid","equivalent_identifiers":["MONDO:0020357","orphanet:98946","UMLS:C0521573","MESH:C000721288","NCIT:C98878","SNOMEDCT:95202004","medgen:141737","icd11.foundation:684436925","HP:0000625"],"information_content":92.8}
{"id":"MONDO:0020359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Symblepharon","equivalent_identifiers":["MONDO:0020359","DOID:0111720","orphanet:98948","UMLS:C0152454","MEDDRA:10010696","MEDDRA:10042736","SNOMEDCT:90216006","medgen:509041","icd11.foundation:1595154985","HP:0430007"],"information_content":100.0}
{"id":"MONDO:0020360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complete cryptophthalmia","equivalent_identifiers":["MONDO:0020360","DOID:0111719","orphanet:98949","UMLS:C5437887","SNOMEDCT:890406007","medgen:1773866","icd11.foundation:162797488"],"information_content":100.0}
{"id":"MONDO:0020364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior polymorphous corneal dystrophy","equivalent_identifiers":["MONDO:0020364","DOID:0060457","OMIM.PS:122000","orphanet:98973","medgen:87382","icd11.foundation:935421185"],"information_content":89.4}
{"id":"MONDO:0020366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrophthalmos","equivalent_identifiers":["MONDO:0020366","DOID:11212","EFO:1000968","UMLS:C0020302","MESH:D006871","MEDDRA:10010486","MEDDRA:10012565","MEDDRA:10018324","MEDDRA:10018325","MEDDRA:10018327","MEDDRA:10064033","NCIT:C50648","SNOMEDCT:204113001","SNOMEDCT:413728006","medgen:42532","ICD10:Q15.0","HP:0001087"],"information_content":84.8}
{"id":"MONDO:0020367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile open angle glaucoma","equivalent_identifiers":["MONDO:0020367","DOID:1068","orphanet:98977","UMLS:C2981140","MEDDRA:10064032","SNOMEDCT:71111008","medgen:453382"],"information_content":87.2}
{"id":"MONDO:0020368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Axenfeld anomaly","equivalent_identifiers":["MONDO:0020368","orphanet:98978","UMLS:C0266548","MEDDRA:10058653","SNOMEDCT:204152008","medgen:78611","icd11.foundation:1703498511","HP:0001492"],"information_content":100.0}
{"id":"MONDO:0020372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset sutural cataract","equivalent_identifiers":["MONDO:0020372","orphanet:98985"],"information_content":95.4}
{"id":"MONDO:0020373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset anterior polar cataract","equivalent_identifiers":["MONDO:0020373","orphanet:98988","UMLS:C1855179","MESH:C538282","medgen:340806","HP:0001134"],"information_content":95.4}
{"id":"MONDO:0020374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerulean cataract","equivalent_identifiers":["MONDO:0020374","orphanet:98989","UMLS:C0344523","MESH:C537955","MEDDRA:10090531","SNOMEDCT:204138006","medgen:138007","icd11.foundation:1188848969","HP:0007976"],"information_content":92.8}
{"id":"MONDO:0020376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset nuclear cataract","equivalent_identifiers":["MONDO:0020376","orphanet:98991","UMLS:C5681644","MESH:C563333","medgen:1842550"],"information_content":89.4}
{"id":"MONDO:0020378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset posterior polar cataract","equivalent_identifiers":["MONDO:0020378","orphanet:98993","UMLS:C0858617","MEDDRA:10036364","NCIT:C135180","SNOMEDCT:315353005","medgen:163646","HP:0007787"],"information_content":89.4}
{"id":"MONDO:0020380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant cerebellar ataxia","equivalent_identifiers":["MONDO:0020380","DOID:1441","OMIM.PS:164400","orphanet:99","UMLS:C0087012","UMLS:C4087347","MESH:D020754","MEDDRA:10057660","MEDDRA:10077339","SNOMEDCT:129609000","medgen:1684639","HP:0007263"],"information_content":72.5}
{"id":"MONDO:0020382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multifocal pattern dystrophy simulating fundus flavimaculatus","equivalent_identifiers":["MONDO:0020382","orphanet:99003","UMLS:C4509881","SNOMEDCT:723408004","medgen:1376850","icd11.foundation:1819044742"],"information_content":100.0}
{"id":"MONDO:0020385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenitally uncorrected transposition of the great arteries with coarctation","equivalent_identifiers":["MONDO:0020385","orphanet:99042","UMLS:C5680321","medgen:1842891"],"information_content":100.0}
{"id":"MONDO:0020391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary artery coming from the aorta","equivalent_identifiers":["MONDO:0020391","orphanet:99050","UMLS:C3838927","SNOMEDCT:703385008","medgen:824773"],"information_content":100.0}
{"id":"MONDO:0020407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complete atrioventricular canal-ventricle hypoplasia syndrome","equivalent_identifiers":["MONDO:0020407","orphanet:99067","UMLS:C5680290","medgen:1842918"],"information_content":100.0}
{"id":"MONDO:0020408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complete atrioventricular canal-tetralogy of fallot syndrome","equivalent_identifiers":["MONDO:0020408","orphanet:99068","UMLS:C3640086","NCIT:C101322","medgen:768726"],"information_content":100.0}
{"id":"MONDO:0020417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"right aortic arch","equivalent_identifiers":["MONDO:0020417","orphanet:99081","UMLS:C0035615","MEDDRA:10067407","NCIT:C103917","SNOMEDCT:111321007","SNOMEDCT:244229003","medgen:48474","icd11.foundation:769265824","HP:0012020"],"information_content":89.4}
{"id":"MONDO:0020419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary artery hypoplasia","equivalent_identifiers":["MONDO:0020419","orphanet:99083","UMLS:C0265910","SNOMEDCT:54682008","medgen:75585","HP:0004971"],"information_content":95.4}
{"id":"MONDO:0020427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Laubry-Pezzi syndrome","equivalent_identifiers":["MONDO:0020427","orphanet:99094","UMLS:C4707235","SNOMEDCT:764955006","medgen:1643612"],"information_content":100.0}
{"id":"MONDO:0020428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital Gerbode defect","equivalent_identifiers":["MONDO:0020428","orphanet:99095","UMLS:C0344947","SNOMEDCT:204312002","medgen:576645"],"information_content":100.0}
{"id":"MONDO:0020434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect, ostium secundum type","equivalent_identifiers":["MONDO:0020434","orphanet:99103","UMLS:C0344724","MEDDRA:10031302","MEDDRA:10031303","SNOMEDCT:204315000","medgen:91034","icd11.foundation:1875768490","HP:0001684"],"information_content":100.0}
{"id":"MONDO:0020435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect, coronary sinus type","equivalent_identifiers":["MONDO:0020435","orphanet:99104","UMLS:C0265870","UMLS:C2063331","SNOMEDCT:40272001","medgen:488986","icd11.foundation:664625334","HP:0011643"],"information_content":100.0}
{"id":"MONDO:0020436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect, sinus venosus type","equivalent_identifiers":["MONDO:0020436","orphanet:99105","UMLS:C0344730","MESH:C548009","SNOMEDCT:95268002","medgen:138011","icd11.foundation:1930019148","HP:0011567"],"information_content":100.0}
{"id":"MONDO:0020437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal defect, ostium primum type","equivalent_identifiers":["MONDO:0020437","orphanet:99106","UMLS:C0031192","UMLS:C0344735","UMLS:C0741296","UMLS:C5680294","MEDDRA:10031301","NCIT:C34921","SNOMEDCT:17718000","SNOMEDCT:253373002","medgen:1825952","icd11.foundation:1159570489","HP:0010445"],"information_content":100.0}
{"id":"MONDO:0020438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrial septal aneurysm","equivalent_identifiers":["MONDO:0020438","orphanet:99107","UMLS:C0521533","UMLS:C4476553","SNOMEDCT:95440004","medgen:1384602","HP:0011995"],"information_content":100.0}
{"id":"MONDO:0020439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patent foramen ovale","equivalent_identifiers":["MONDO:0020439","DOID:13620","UMLS:C0016522","MESH:D054092","MEDDRA:10016982","NCIT:C34619","SNOMEDCT:204317008","medgen:8891","ICD10:Q21.12","HP:0001655"],"information_content":95.4}
{"id":"MONDO:0020453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital partial pulmonary venous return anomaly","equivalent_identifiers":["MONDO:0020453","orphanet:99124","UMLS:C0158634","MEDDRA:10034056","NCIT:C99004","SNOMEDCT:68237008","medgen:450995","icd11.foundation:1041585584","HP:0010773"],"information_content":95.4}
{"id":"MONDO:0020458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic anemia due to erythrocyte adenosine deaminase overproduction","equivalent_identifiers":["MONDO:0020458","DOID:0051008","OMIM:301083","orphanet:99138","UMLS:C1863235","MESH:C566314","medgen:400240","icd11.foundation:1200845933"],"information_content":100.0}
{"id":"MONDO:0020460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired von willebrand syndrome","equivalent_identifiers":["MONDO:0020460","DOID:0111146","orphanet:99147","UMLS:C0272362","MEDDRA:10069495","SNOMEDCT:234451005","medgen:543999","ICD10:D68.04"],"information_content":100.0}
{"id":"MONDO:0020461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiblepharon","equivalent_identifiers":["MONDO:0020461","orphanet:99169","UMLS:C0344503","MEDDRA:10056531","SNOMEDCT:253212001","medgen:488856","icd11.foundation:1757021264","HP:0011225"],"information_content":92.8}
{"id":"MONDO:0020464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"euryblepharon","equivalent_identifiers":["MONDO:0020464","orphanet:99172","UMLS:C1303001","UMLS:C4280305","SNOMEDCT:400954002","medgen:724511","icd11.foundation:2086603843","HP:0012905"],"information_content":100.0}
{"id":"MONDO:0020466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monosomy X","equivalent_identifiers":["MONDO:0020466","orphanet:99226","UMLS:C0242526","SNOMEDCT:710008008","medgen:116607","icd11.foundation:95979116"],"information_content":95.4}
{"id":"MONDO:0020467","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic monosomy X","equivalent_identifiers":["MONDO:0020467","orphanet:99228","UMLS:C4040907","SNOMEDCT:710010005","medgen:873772"],"information_content":100.0}
{"id":"MONDO:0020469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"48,XYYY syndrome","equivalent_identifiers":["MONDO:0020469","orphanet:99329","UMLS:C4518082","SNOMEDCT:733625003","medgen:1371767"],"information_content":100.0}
{"id":"MONDO:0020470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"49,XYYYY syndrome","equivalent_identifiers":["MONDO:0020470","orphanet:99330","UMLS:C4518342","SNOMEDCT:734028007","medgen:1384259"],"information_content":100.0}
{"id":"MONDO:0020472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Turner syndrome due to structural X chromosome anomalies","equivalent_identifiers":["MONDO:0020472","orphanet:99413","UMLS:C5681631","medgen:1842425"],"information_content":100.0}
{"id":"MONDO:0020475","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermotrichic syndrome","equivalent_identifiers":["MONDO:0020475","orphanet:99688","UMLS:C0795919","SNOMEDCT:782916003","medgen:1672480"],"information_content":100.0}
{"id":"MONDO:0020478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Leber plus disease","equivalent_identifiers":["MONDO:0020478","DOID:0111754","orphanet:99718","UMLS:C4304725","SNOMEDCT:719430008","medgen:930394"],"information_content":92.8}
{"id":"MONDO:0020479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gigantism","equivalent_identifiers":["MONDO:0020479","orphanet:99725","UMLS:C0001207","UMLS:C0017547","MESH:D005877","MEDDRA:10018265","NCIT:C93046","SNOMEDCT:80849007","SNOMEDCT:86073008","medgen:6602"],"information_content":100.0}
{"id":"MONDO:0020480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sulfite oxidase deficiency due to molybdenum cofactor deficiency","equivalent_identifiers":["MONDO:0020480","DOID:0111165","OMIM.PS:252150","orphanet:99732","UMLS:C0268119","MESH:C535811","MEDDRA:10069687","NCIT:C129076","SNOMEDCT:29692004","medgen:75652","icd11.foundation:819219337","HP:0003570"],"information_content":90.9}
{"id":"MONDO:0020481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myotonia fluctuans","equivalent_identifiers":["MONDO:0020481","orphanet:99734","UMLS:C0752355","NCIT:C122789","SNOMEDCT:715788001","medgen:156269","icd11.foundation:1294270721"],"information_content":100.0}
{"id":"MONDO:0020482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myotonia permanens","equivalent_identifiers":["MONDO:0020482","orphanet:99735","UMLS:C5848361","SNOMEDCT:715789009","medgen:1845910","icd11.foundation:2133644550"],"information_content":100.0}
{"id":"MONDO:0020483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acetazolamide-responsive myotonia","equivalent_identifiers":["MONDO:0020483","orphanet:99736","UMLS:C4275008","SNOMEDCT:715793003","medgen:902539","icd11.foundation:1452993937"],"information_content":100.0}
{"id":"MONDO:0020485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"King-Denborough syndrome","equivalent_identifiers":["MONDO:0020485","OMIM:619542","orphanet:99741","UMLS:C1840365","UMLS:C2931510","MESH:C536883","MESH:C537504","SNOMEDCT:764957003","medgen:327082"],"information_content":100.0}
{"id":"MONDO:0020487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pontiac fever","equivalent_identifiers":["MONDO:0020487","DOID:0050150","orphanet:99748","UMLS:C0343528","MEDDRA:10054161","NCIT:C128335","SNOMEDCT:240447002","medgen:575661","icd11.foundation:1670562980"],"information_content":100.0}
{"id":"MONDO:0020488","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical progressive supranuclear palsy syndrome","equivalent_identifiers":["MONDO:0020488","orphanet:99750","UMLS:C5548371","SNOMEDCT:1156790008","medgen:1779597"],"information_content":89.4}
{"id":"MONDO:0020490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic trisomy 9","equivalent_identifiers":["MONDO:0020490","orphanet:99776","UMLS:C2930908","MESH:C535454","MEDDRA:10071548","SNOMEDCT:764989007","medgen:419661"],"information_content":100.0}
{"id":"MONDO:0020491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subcortical band heterotopia","equivalent_identifiers":["MONDO:0020491","DOID:0111169","orphanet:99796","UMLS:C1848201","MEDDRA:10073490","NCIT:C116933","medgen:336288","icd11.foundation:525786944","HP:0032409"],"information_content":90.9}
{"id":"MONDO:0020492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemimegalencephaly","equivalent_identifiers":["MONDO:0020492","orphanet:99802","UMLS:C0431391","MESH:D065705","MEDDRA:10078100","NCIT:C177779","SNOMEDCT:253170008","medgen:140910","icd11.foundation:961229160","HP:0007206"],"information_content":100.0}
{"id":"MONDO:0020493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Haddad syndrome","equivalent_identifiers":["MONDO:0020493","orphanet:99803","UMLS:C1859049","SNOMEDCT:719972004","medgen:347052","icd11.foundation:1685926536"],"information_content":100.0}
{"id":"MONDO:0020494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculootodental syndrome","equivalent_identifiers":["MONDO:0020494","orphanet:99806","UMLS:C2750325","SNOMEDCT:770944002","medgen:413814"],"information_content":100.0}
{"id":"MONDO:0020495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PEHO-like syndrome","equivalent_identifiers":["MONDO:0020495","OMIM:617507","orphanet:99807","UMLS:C1850056","SNOMEDCT:770678005","medgen:337956"],"information_content":100.0}
{"id":"MONDO:0020496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial porencephaly","equivalent_identifiers":["MONDO:0020496","DOID:0112313","OMIM.PS:175780","orphanet:99810","UMLS:C1867983","SNOMEDCT:1162864000","medgen:401353","icd11.foundation:1833583032"],"information_content":90.9}
{"id":"MONDO:0020499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nipah virus disease","equivalent_identifiers":["MONDO:0020499","DOID:0050192","orphanet:99825","UMLS:C1320202","UMLS:C4303115","SNOMEDCT:406597005","SNOMEDCT:721791005","medgen:728863"],"information_content":100.0}
{"id":"MONDO:0020500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marburg hemorrhagic fever","equivalent_identifiers":["MONDO:0020500","DOID:4327","orphanet:99826","EFO:0007358","UMLS:C0024788","MESH:D008379","MEDDRA:10026822","MEDDRA:10026823","MEDDRA:10026825","MEDDRA:10055306","NCIT:C84883","SNOMEDCT:77503002","medgen:9888","icd11.foundation:696598707","ICD10:A98.3"],"information_content":100.0}
{"id":"MONDO:0020501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crimean-Congo hemorrhagic fever","equivalent_identifiers":["MONDO:0020501","DOID:12287","orphanet:99827","UMLS:C0019099","MESH:D006479","MEDDRA:10010685","MEDDRA:10010686","MEDDRA:10011388","MEDDRA:10060532","MEDDRA:10060533","MEDDRA:10060534","NCIT:C34682","SNOMEDCT:402919000","SNOMEDCT:43489008","medgen:6800","icd11.foundation:1562906700","ICD10:A98.0","ICD9:065.0"],"information_content":100.0}
{"id":"MONDO:0020502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"yellow fever","equivalent_identifiers":["MONDO:0020502","DOID:9682","orphanet:99829","UMLS:C0043395","MESH:D015004","MEDDRA:10046248","MEDDRA:10048240","MEDDRA:10048242","MEDDRA:10048243","NCIT:C35547","SNOMEDCT:16541001","medgen:53112","icd11.foundation:383352795","ICD10:A95","ICD9:060"],"information_content":100.0}
{"id":"MONDO:0020504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary recurrent myoglobinuria","equivalent_identifiers":["MONDO:0020504","orphanet:99845","UMLS:C4274324","SNOMEDCT:716721003","medgen:901659"],"information_content":92.8}
{"id":"MONDO:0020505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ravine syndrome","equivalent_identifiers":["MONDO:0020505","orphanet:99852","UMLS:C4275006","SNOMEDCT:715794009","medgen:907744","icd11.foundation:451093599"],"information_content":100.0}
{"id":"MONDO:0020507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy with vanishing white matter 1","equivalent_identifiers":["MONDO:0020507","DOID:0070374","OMIM:603896","orphanet:99854","UMLS:C5779972","medgen:1830482"],"information_content":100.0}
{"id":"MONDO:0020509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary syringomyelia","equivalent_identifiers":["MONDO:0020509","orphanet:99857","UMLS:C4749399","SNOMEDCT:770683002","medgen:1649806"],"information_content":100.0}
{"id":"MONDO:0020511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"precursor B-cell acute lymphoblastic leukemia","equivalent_identifiers":["MONDO:0020511","DOID:0080638","orphanet:99860","UMLS:C0349636","NCIT:C8644","SNOMEDCT:277572006","medgen:83896","icd11.foundation:1099674056","HP:0004812"],"information_content":70.6}
{"id":"MONDO:0020512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"precursor T-cell acute lymphoblastic leukemia","equivalent_identifiers":["MONDO:0020512","orphanet:99861","EFO:1001830","icd11.foundation:803161771"],"information_content":100.0}
{"id":"MONDO:0020517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic granuloma","equivalent_identifiers":["MONDO:0020517","UMLS:C0014461","UMLS:C1306599","MESH:D004803","MEDDRA:10014956","NCIT:C150701","NCIT:C3016","SNOMEDCT:1187283003","SNOMEDCT:128810002","SNOMEDCT:129000002","medgen:4979","icd11.foundation:1377407737","HP:0032253"],"information_content":92.8}
{"id":"MONDO:0020520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult pulmonary Langerhans cell histiocytosis","equivalent_identifiers":["MONDO:0020520","UMLS:C1455705","UMLS:C3161104","MEDDRA:10020119","NCIT:C142833","SNOMEDCT:28122003","SNOMEDCT:328611000119105","SNOMEDCT:417152008","medgen:853967","icd11.foundation:792398738","HP:0034769"],"information_content":100.0}
{"id":"MONDO:0020523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial parathyroid adenoma","equivalent_identifiers":["MONDO:0020523","OMIM:145000","UMLS:C1840402","UMLS:C1840403","UMLS:C4551961","MESH:C564166","MEDDRA:10080773","MEDDRA:10090583","NCIT:C94830","SNOMEDCT:786037006","medgen:374460","icd11.foundation:55934726"],"information_content":92.8}
{"id":"MONDO:0020525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient neonatal diabetes mellitus","equivalent_identifiers":["MONDO:0020525","DOID:0060334","UMLS:C0342273","NCIT:C114899","SNOMEDCT:237603002","medgen:449530","icd11.foundation:1596856936","ICD10:P70.2","HP:0008255"],"information_content":90.9}
{"id":"MONDO:0020526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute megakaryoblastic leukemia in down syndrome","equivalent_identifiers":["MONDO:0020526","orphanet:99887","UMLS:C5925108","medgen:1863778"],"information_content":100.0}
{"id":"MONDO:0020527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectopic Cushing syndrome","equivalent_identifiers":["MONDO:0020527","DOID:0060890","orphanet:99889","icd11.foundation:1646144829","ICD10:E24.3"],"information_content":100.0}
{"id":"MONDO:0020530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency","equivalent_identifiers":["MONDO:0020530","orphanet:99898","MESH:C535530"],"information_content":100.0}
{"id":"MONDO:0020540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian gynandroblastoma","equivalent_identifiers":["MONDO:0020540","orphanet:99914","EFO:1000422","UMLS:C0346178","MESH:C538459","NCIT:C3072","SNOMEDCT:254867003","medgen:83412"],"information_content":95.4}
{"id":"MONDO:0020541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maligant granulosa cell tumor of ovary","equivalent_identifiers":["MONDO:0020541","orphanet:99915","UMLS:C0346175","NCIT:C8403","SNOMEDCT:254861002","medgen:138043","icd11.foundation:148207042","HP:0031920"],"information_content":95.4}
{"id":"MONDO:0020542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant Sertoli-Leydig cell tumor of ovary","equivalent_identifiers":["MONDO:0020542","orphanet:99916","UMLS:C0342515","UMLS:C5574973","SNOMEDCT:1284849005","SNOMEDCT:237795006","medgen:1825991"],"information_content":100.0}
{"id":"MONDO:0020547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic graft versus host disease","equivalent_identifiers":["MONDO:0020547","orphanet:99921","UMLS:C0867389","MEDDRA:10008907","MEDDRA:10066261","MEDDRA:10068907","NCIT:C4981","SNOMEDCT:402356004","medgen:167851","icd11.foundation:621183043"],"information_content":86.3}
{"id":"MONDO:0020549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"invasive hydatidiform mole","equivalent_identifiers":["MONDO:0020549","orphanet:99925","UMLS:C0008493","MESH:D002820","MEDDRA:10020483","MEDDRA:10025598","NCIT:C6985","SNOMEDCT:18799007","SNOMEDCT:416669000","medgen:3055"],"information_content":95.4}
{"id":"MONDO:0020550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gestational choriocarcinoma","equivalent_identifiers":["MONDO:0020550","DOID:2025","orphanet:99926","UMLS:C0349557","NCIT:C4646","SNOMEDCT:417057000","SNOMEDCT:417570003","medgen:138102","icd11.foundation:2136066651"],"information_content":89.4}
{"id":"MONDO:0020552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"placental site trophoblastic tumor","equivalent_identifiers":["MONDO:0020552","DOID:3596","orphanet:99928","EFO:1001111","UMLS:C0206666","MESH:D018245","NCIT:C3757","SNOMEDCT:237252008","SNOMEDCT:75320001","medgen:104914"],"information_content":100.0}
{"id":"MONDO:0020558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Charcot-Marie-Tooth disease type 2K","equivalent_identifiers":["MONDO:0020558","orphanet:99944","UMLS:C1842984","MESH:C564325","NCIT:C133886","SNOMEDCT:719512003","medgen:334294"],"information_content":100.0}
{"id":"MONDO:0020559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"O'Sullivan-McLeod syndrome","equivalent_identifiers":["MONDO:0020559","orphanet:99965","UMLS:C2721741","MEDDRA:10069682","SNOMEDCT:1299151005","medgen:797656"],"information_content":100.0}
{"id":"MONDO:0020560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical teratoid rhabdoid tumor","equivalent_identifiers":["MONDO:0020560","DOID:2129","orphanet:99966","EFO:1002008","UMLS:C1266184","UMLS:CN207484","NCIT:C6906","SNOMEDCT:128792003","medgen:226853","HP:0034401"],"information_content":80.9}
{"id":"MONDO:0020561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myxoid/round cell liposarcoma","equivalent_identifiers":["MONDO:0020561","orphanet:99967","UMLS:C0545074","medgen:107784"],"information_content":90.9}
{"id":"MONDO:0020562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleomorphic liposarcoma","equivalent_identifiers":["MONDO:0020562","DOID:5702","orphanet:99969","EFO:0003083","UMLS:C0205825","MEDDRA:10073138","NCIT:C3705","SNOMEDCT:112683004","SNOMEDCT:404071006","medgen:61457"],"information_content":88.2}
{"id":"MONDO:0020563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dedifferentiated liposarcoma","equivalent_identifiers":["MONDO:0020563","DOID:0080531","orphanet:99970","EFO:0003085","UMLS:C0205824","MEDDRA:10073135","NCIT:C3704","SNOMEDCT:404072004","SNOMEDCT:67280001","medgen:60028"],"information_content":86.3}
{"id":"MONDO:0020567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"apnea of prematurity","equivalent_identifiers":["MONDO:0020567","orphanet:99981","UMLS:C0475715","NCIT:C98823","SNOMEDCT:276544005","medgen:473179","icd11.foundation:894774581","HP:0034236"],"information_content":100.0}
{"id":"MONDO:0020569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermediate DEND syndrome","equivalent_identifiers":["MONDO:0020569","orphanet:99989","UMLS:C5680423","SNOMEDCT:1303868000","medgen:1843317"],"information_content":100.0}
{"id":"MONDO:0020575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polymorphic ventricular tachycardia","equivalent_identifiers":["MONDO:0020575","UMLS:C0344432","MEDDRA:10028158","MEDDRA:10028159","MEDDRA:10036095","NCIT:C111648","SNOMEDCT:251159007","medgen:138002","icd11.foundation:16452928","HP:0031677"],"information_content":85.5}
{"id":"MONDO:0020576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous vasculitis","equivalent_identifiers":["MONDO:0020576","UMLS:C0262988","MEDDRA:10011686","MEDDRA:10040948","MEDDRA:10040949","NCIT:C112210","SNOMEDCT:53312001","medgen:488809","HP:0200029"],"information_content":89.4}
{"id":"MONDO:0020586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factor V deficiency","equivalent_identifiers":["MONDO:0020586","UMLS:C4317320","MESH:D005166","MEDDRA:10048930","NCIT:C131738","SNOMEDCT:4320005","medgen:1369551","HP:0003225"],"information_content":90.9}
{"id":"MONDO:0020593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichoblastoma","equivalent_identifiers":["MONDO:0020593","UMLS:C0349658","MEDDRA:10015106","MEDDRA:10044610","MEDDRA:10063951","NCIT:C27132","SNOMEDCT:274898000","SNOMEDCT:277942005","SNOMEDCT:59186007","SNOMEDCT:878881002","medgen:138112","icd11.foundation:1414797713","HP:0025367"],"information_content":84.8}
{"id":"MONDO:0020594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Abducens palsy","equivalent_identifiers":["MONDO:0020594","UMLS:C0271355","MESH:D020434","MEDDRA:10053646","MEDDRA:10053662","NCIT:C27593","SNOMEDCT:398760006","SNOMEDCT:398925009","SNOMEDCT:398963001","medgen:78767","HP:0006897"],"information_content":92.8}
{"id":"MONDO:0020602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Simpson-Golabi-Behmel syndrome type 1","equivalent_identifiers":["MONDO:0020602","DOID:0060248","OMIM:312870","UMLS:C0796154","MEDDRA:10085696","MEDDRA:10085698","NCIT:C118787","medgen:162917"],"information_content":100.0}
{"id":"MONDO:0020603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked chondrodysplasia punctata 2","equivalent_identifiers":["MONDO:0020603","DOID:0080352","OMIM:302960","orphanet:35173","UMLS:C0282102","MEDDRA:10084050","SNOMEDCT:398719004","SNOMEDCT:398958000","medgen:79381"],"information_content":100.0}
{"id":"MONDO:0020607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Liddle syndrome 1","equivalent_identifiers":["MONDO:0020607","OMIM:177200"],"information_content":100.0}
{"id":"MONDO:0020628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly, growth restriction, and increased sister chromatid exchange 2","equivalent_identifiers":["MONDO:0020628","OMIM:618097","UMLS:C4748176","medgen:1648384"],"information_content":100.0}
{"id":"MONDO:0020630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy 91","equivalent_identifiers":["MONDO:0020630","DOID:0080472","OMIM:617711","UMLS:C4540199","medgen:1626137"],"information_content":100.0}
{"id":"MONDO:0020631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy 92","equivalent_identifiers":["MONDO:0020631","DOID:0080471","OMIM:617829","UMLS:C4693362","medgen:1638319"],"information_content":100.0}
{"id":"MONDO:0020632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy 93","equivalent_identifiers":["MONDO:0020632","DOID:0112275","OMIM:618012","UMLS:C4693934","medgen:1642888"],"information_content":100.0}
{"id":"MONDO:0020641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"respiratory tract neoplasm","equivalent_identifiers":["MONDO:0020641","EFO:0003853","UMLS:C0035244","MESH:D012142","MEDDRA:10029107","MEDDRA:10038735","MEDDRA:10061486","NCIT:C3355","SNOMEDCT:126667002","SNOMEDCT:448708002","medgen:11200","HP:0100606"],"information_content":57.7}
{"id":"MONDO:0020642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic kidney disease","equivalent_identifiers":["MONDO:0020642","DOID:0080322","OMIM.PS:173900","EFO:0008620","UMLS:C0022680","UMLS:C0311245","UMLS:C1567435","MESH:D007690","MEDDRA:10010428","MEDDRA:10023433","MEDDRA:10036045","MEDDRA:10036048","NCIT:C75464","SNOMEDCT:82525005","medgen:9639","HP:0000113"],"information_content":76.7}
{"id":"MONDO:0020647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome","equivalent_identifiers":["MONDO:0020647","OMIM:618142","UMLS:C4748348","medgen:1648412"],"information_content":100.0}
{"id":"MONDO:0020667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis","equivalent_identifiers":["MONDO:0020667","DOID:0081290","OMIM:207410","orphanet:596008","UMLS:C2936791","medgen:422448"],"information_content":100.0}
{"id":"MONDO:0020673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arterial occlusion","equivalent_identifiers":["MONDO:0020673","UMLS:C0264995","MEDDRA:10003166","MEDDRA:10048818","MEDDRA:10058475","NCIT:C35318","medgen:78117","HP:0025324"],"information_content":84.2}
{"id":"MONDO:0020675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ischemic bowel disorder","equivalent_identifiers":["MONDO:0020675","UMLS:C2004435","MEDDRA:10006054","MEDDRA:10022680","MEDDRA:10022681","MEDDRA:10023028","MEDDRA:10046220","MEDDRA:10047082","MEDDRA:10047083","MEDDRA:10055747","MEDDRA:10055748","NCIT:C35212","SNOMEDCT:82196007","medgen:412148","HP:0033404"],"information_content":95.4}
{"id":"MONDO:0020678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sensorineural hearing loss disorder","equivalent_identifiers":["MONDO:0020678","DOID:10003","EFO:1001176","UMLS:C0018784","MESH:D006319","MEDDRA:10029253","MEDDRA:10034375","MEDDRA:10040015","MEDDRA:10040016","MEDDRA:10040018","NCIT:C26739","SNOMEDCT:60700002","medgen:9164","ICD10:H90.5","ICD9:389.1","HP:0000407"],"information_content":78.5}
{"id":"MONDO:0020679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conductive hearing loss disorder","equivalent_identifiers":["MONDO:0020679","UMLS:C0018777","MESH:D006314","MEDDRA:10010280","MEDDRA:10010282","MEDDRA:10010288","NCIT:C27645","SNOMEDCT:44057004","medgen:9163","HP:0000405"],"information_content":84.2}
{"id":"MONDO:0020681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, musculocontractural type 1","equivalent_identifiers":["MONDO:0020681","DOID:0080736","OMIM:601776","NCIT:C168975"],"information_content":100.0}
{"id":"MONDO:0020682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, spondylodysplastic type, 1","equivalent_identifiers":["MONDO:0020682","DOID:0080738","OMIM:130070","UMLS:C4552003","medgen:1646889"],"information_content":100.0}
{"id":"MONDO:0020684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, periodontal type 1","equivalent_identifiers":["MONDO:0020684","DOID:0080986","OMIM:130080","UMLS:C4551499","medgen:1642148"],"information_content":100.0}
{"id":"MONDO:0020692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocostal dysostosis 1, autosomal recessive","equivalent_identifiers":["MONDO:0020692","DOID:0112365","OMIM:277300"],"information_content":100.0}
{"id":"MONDO:0020693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycogen storage disease due to liver phosphorylase kinase deficiency","equivalent_identifiers":["MONDO:0020693","orphanet:264580","UMLS:C2012260","medgen:453209"],"information_content":92.8}
{"id":"MONDO:0020696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin B12 deficiency","equivalent_identifiers":["MONDO:0020696","EFO:0000734","UMLS:C0042847","UMLS:C5886863","MESH:D014806","MEDDRA:10047609","MEDDRA:10052831","MEDDRA:10082435","MEDDRA:10082438","NCIT:C131684","SNOMEDCT:190634004","medgen:21880","icd11.foundation:1366882206","HP:0100502"],"information_content":78.0}
{"id":"MONDO:0020702","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant epidermolytic ichthyosis","equivalent_identifiers":["MONDO:0020702","orphanet:312","NCIT:C62569"],"information_content":89.4}
{"id":"MONDO:0020705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neural tube defects, susceptibility to","equivalent_identifiers":["MONDO:0020705","OMIM:182940","UMLS:C3891448","medgen:856010"],"information_content":100.0}
{"id":"MONDO:0020706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heberden's node","equivalent_identifiers":["MONDO:0020706","UMLS:C0409957","NCIT:C34671","SNOMEDCT:239869009","medgen:6761","HP:0006233"],"information_content":100.0}
{"id":"MONDO:0020712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY sex reversal 1","equivalent_identifiers":["MONDO:0020712","DOID:0111778","OMIM:400044","UMLS:C2748896","UMLS:C2748897","MESH:C567574","MESH:C567575","NCIT:C128188","medgen:412662"],"information_content":100.0}
{"id":"MONDO:0020713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary venoocclusive disease 1","equivalent_identifiers":["MONDO:0020713","DOID:0081268","OMIM:265450","UMLS:C3887658","medgen:854500"],"information_content":100.0}
{"id":"MONDO:0020714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy","equivalent_identifiers":["MONDO:0020714","OMIM:251900","UMLS:C5193007","UMLS:C5193223","medgen:1679560"],"information_content":100.0}
{"id":"MONDO:0020715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple system atrophy 1, susceptibility to","equivalent_identifiers":["MONDO:0020715","OMIM:146500","UMLS:C3714927","medgen:811503"],"information_content":100.0}
{"id":"MONDO:0020716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid dyshormonogenesis 1","equivalent_identifiers":["MONDO:0020716","DOID:0112185","OMIM:274400","UMLS:C1848805","medgen:336422"],"information_content":100.0}
{"id":"MONDO:0020717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant wooly hair","equivalent_identifiers":["MONDO:0020717","DOID:0111573","OMIM:194300","UMLS:C1860238","medgen:348571"],"information_content":100.0}
{"id":"MONDO:0020718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital short bowel syndrome, autosomal recessive","equivalent_identifiers":["MONDO:0020718","OMIM:615237"],"information_content":100.0}
{"id":"MONDO:0020721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked sideroblastic anemia 1","equivalent_identifiers":["MONDO:0020721","DOID:0060063","OMIM:300751","orphanet:75563","UMLS:C4551511","MESH:C536761","SNOMEDCT:48983004","SNOMEDCT:62677000","medgen:1638704"],"information_content":100.0}
{"id":"MONDO:0020723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin D-dependent rickets, type 1A","equivalent_identifiers":["MONDO:0020723","DOID:0080886","OMIM:264700"],"information_content":100.0}
{"id":"MONDO:0020724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral cavernous malformation 1","equivalent_identifiers":["MONDO:0020724","DOID:0080491","OMIM:116860","UMLS:C1366911","UMLS:C1861785","UMLS:C1861786","MESH:C566152","MESH:C566153","medgen:237128"],"information_content":100.0}
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{"id":"MONDO:0020854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Liddle syndrome 2","equivalent_identifiers":["MONDO:0020854","OMIM:618114","UMLS:C4748251","medgen:1648476"],"information_content":100.0}
{"id":"MONDO:0020855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 32","equivalent_identifiers":["MONDO:0020855","DOID:0111925","OMIM:618115","UMLS:C4748253","medgen:1648444"],"information_content":100.0}
{"id":"MONDO:0020856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone marrow failure syndrome 4","equivalent_identifiers":["MONDO:0020856","OMIM:618116","UMLS:C4748257","medgen:1648485"],"information_content":100.0}
{"id":"MONDO:0020857","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian dysgenesis 7","equivalent_identifiers":["MONDO:0020857","DOID:0080499","OMIM:618117","UMLS:C4748263","medgen:1648458"],"information_content":100.0}
{"id":"MONDO:0020858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5","equivalent_identifiers":["MONDO:0020858","DOID:0070463","OMIM:618120","UMLS:C4748269","medgen:1648429"],"information_content":100.0}
{"id":"MONDO:0020920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"escherichia coli infection","equivalent_identifiers":["MONDO:0020920","EFO:1001318","UMLS:C0014836","MESH:D004927","MEDDRA:10054242","NCIT:C34594","SNOMEDCT:71057007","medgen:4543","HP:0002740"],"information_content":92.8}
{"id":"MONDO:0020927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postaxial polydactyly","equivalent_identifiers":["MONDO:0020927","OMIM.PS:174200","UMLS:C0220697","MESH:C562429","MEDDRA:10089191","medgen:67394","HP:0100259"],"information_content":81.3}
{"id":"MONDO:0021001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemochromatosis type 1","equivalent_identifiers":["MONDO:0021001","DOID:0111029","OMIM:235200","EFO:0006513","UMLS:C2827503","UMLS:C3469186","NCIT:C84764","SNOMEDCT:1186847009","medgen:854011","ICD10:E83.1"],"information_content":100.0}
{"id":"MONDO:0021002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syndactyly","equivalent_identifiers":["MONDO:0021002","DOID:11193","UMLS:C0039075","MESH:D013576","MEDDRA:10042778","SNOMEDCT:373413006","medgen:52619","ICD10:Q70","ICD9:755.1","HP:0001159"],"information_content":70.3}
{"id":"MONDO:0021003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly","equivalent_identifiers":["MONDO:0021003","DOID:1148","OMIM:603596","UMLS:C0152427","MESH:D017689","MEDDRA:10028188","MEDDRA:10036063","MEDDRA:10036066","NCIT:C87110","SNOMEDCT:367506006","medgen:57774","ICD10:Q69","ICD9:755.0","HP:0010442"],"information_content":67.0}
{"id":"MONDO:0021004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachydactyly","equivalent_identifiers":["MONDO:0021004","DOID:0050581","UMLS:C0221357","MESH:D059327","MEDDRA:10072883","SNOMEDCT:43476002","medgen:67454","icd11.foundation:598200019","HP:0001156"],"information_content":74.2}
{"id":"MONDO:0021005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"faciodigitogenital syndrome","equivalent_identifiers":["MONDO:0021005","DOID:0111824","orphanet:915"],"information_content":90.9}
{"id":"MONDO:0021011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary progressive chorea without dementia","equivalent_identifiers":["MONDO:0021011","OMIM:118700","UMLS:C0393584","medgen:98278"],"information_content":100.0}
{"id":"MONDO:0021013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Clastothrix","equivalent_identifiers":["MONDO:0021013","DOID:0050528","OMIM:234050","UMLS:C0263485","UMLS:C0702164","UMLS:C1313961","UMLS:C3495483","UMLS:C4083251","MESH:C536556","MEDDRA:10044626","NCIT:C146899","SNOMEDCT:22486004","SNOMEDCT:238736006","SNOMEDCT:403796005","medgen:272036","HP:0009886"],"information_content":100.0}
{"id":"MONDO:0021018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)","equivalent_identifiers":["MONDO:0021018","DOID:0110305","OMIM:603511","orphanet:34516","UMLS:C3148763","UMLS:C3501858","UMLS:C4721885","MESH:C566370","MESH:C566589","SNOMEDCT:719987009","medgen:1648441"],"information_content":100.0}
{"id":"MONDO:0021019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked recessive ocular albinism","equivalent_identifiers":["MONDO:0021019","OMIM:300500","orphanet:54","UMLS:C0342684","MESH:C537863","NCIT:C118785","SNOMEDCT:78642008","medgen:90991","icd11.foundation:846740259"],"information_content":100.0}
{"id":"MONDO:0021020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crigler-Najjar syndrome type 1","equivalent_identifiers":["MONDO:0021020","OMIM:218800","orphanet:79234","UMLS:C0010324","MEDDRA:10057034","SNOMEDCT:8933000","medgen:41346","icd11.foundation:1098453659"],"information_content":100.0}
{"id":"MONDO:0021021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniodiaphyseal dysplasia, autosomal dominant","equivalent_identifiers":["MONDO:0021021","DOID:0080807","OMIM:122860","UMLS:C2675746","MESH:C567275","medgen:382678"],"information_content":100.0}
{"id":"MONDO:0021022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperekplexia","equivalent_identifiers":["MONDO:0021022","DOID:0060695","OMIM.PS:149400","orphanet:3197","UMLS:C1835614","MESH:C538136","SNOMEDCT:724351008","medgen:332019","icd11.foundation:988250063","ICD10:G25.8"],"information_content":88.2}
{"id":"MONDO:0021023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complete androgen insensitivity syndrome","equivalent_identifiers":["MONDO:0021023","DOID:0080775","orphanet:99429","UMLS:C0936016","MEDDRA:10043319","MEDDRA:10054657","NCIT:C120191","SNOMEDCT:368851000119102","medgen:183188","ICD10:E34.51"],"information_content":100.0}
{"id":"MONDO:0021024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malaria, susceptibility to","equivalent_identifiers":["MONDO:0021024","OMIM:611162","EFO:0009157","UMLS:C1855457","UMLS:C1969379","UMLS:C1970028","UMLS:C1970029","UMLS:C1970030","UMLS:C2720293","medgen:370149"],"information_content":95.4}
{"id":"MONDO:0021035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AMR Syndrome","equivalent_identifiers":["MONDO:0021035","DOID:0080628","OMIM:203650","UMLS:C1859878","UMLS:C4551986","MESH:C565965","medgen:349263"],"information_content":100.0}
{"id":"MONDO:0021036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis pilaris","equivalent_identifiers":["MONDO:0021036","UMLS:C0263383","MEDDRA:10066295","NCIT:C124070","SNOMEDCT:5132005","medgen:82664","icd11.foundation:1614890502","HP:0032152"],"information_content":86.3}
{"id":"MONDO:0021040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic neoplasm","equivalent_identifiers":["MONDO:0021040","EFO:0003860","UMLS:C0030297","UMLS:C0346647","UMLS:C1842408","MESH:D010190","MEDDRA:10026313","MEDDRA:10026318","MEDDRA:10033575","MEDDRA:10033589","MEDDRA:10033604","MEDDRA:10033632","MEDDRA:10049099","MEDDRA:10050255","MEDDRA:10061902","NCIT:C3305","SNOMEDCT:126859007","SNOMEDCT:363418001","medgen:18279","HP:0002894"],"information_content":63.3}
{"id":"MONDO:0021042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glioma","equivalent_identifiers":["MONDO:0021042","orphanet:182067","EFO:0005543","UMLS:C0017638","MESH:D005910","MEDDRA:10018338","NCIT:C3059","SNOMEDCT:115240006","SNOMEDCT:393564001","SNOMEDCT:74532006","medgen:9030","HP:0009733"],"information_content":58.9}
{"id":"MONDO:0021049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvar neoplasm","equivalent_identifiers":["MONDO:0021049","UMLS:C0042995","MEDDRA:10049575","MEDDRA:10062135","NCIT:C3443","SNOMEDCT:126922007","medgen:22689","HP:0030416"],"information_content":66.4}
{"id":"MONDO:0021050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaginal neoplasm","equivalent_identifiers":["MONDO:0021050","EFO:1001447","UMLS:C0042258","UMLS:C0750081","MEDDRA:10049574","MEDDRA:10062165","NCIT:C3437","SNOMEDCT:126921000","medgen:22608","HP:0100650"],"information_content":69.0}
{"id":"MONDO:0021053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chemodectoma","equivalent_identifiers":["MONDO:0021053","UMLS:C0007279","MESH:D002345","MEDDRA:10007689","MEDDRA:10007690","MEDDRA:10075388","MEDDRA:10075392","NCIT:C2932","SNOMEDCT:127028003","SNOMEDCT:30699005","medgen:2853","HP:0030074"],"information_content":90.9}
{"id":"MONDO:0021063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colon cancer","equivalent_identifiers":["MONDO:0021063","DOID:219","UMLS:C0007102","MEDDRA:10009944","MEDDRA:10009951","MEDDRA:10009989","MEDDRA:10009990","MEDDRA:10025848","MEDDRA:10025859","NCIT:C9242","SNOMEDCT:363406005","medgen:2839","ICD10:C18","ICD9:153","HP:0003003"],"information_content":67.8}
{"id":"MONDO:0021064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"jugulotympanic paraganglioma","equivalent_identifiers":["MONDO:0021064","EFO:1001796","UMLS:C0017671","MESH:D005925","MEDDRA:10056563","MEDDRA:10056573","NCIT:C3061","SNOMEDCT:127030001","SNOMEDCT:32037004","medgen:4905","HP:0003001"],"information_content":90.9}
{"id":"MONDO:0021066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary system neoplasm","equivalent_identifiers":["MONDO:0021066","UMLS:C0042076","UMLS:C5779663","MEDDRA:10046583","MEDDRA:10061398","NCIT:C192666","NCIT:C3431","SNOMEDCT:126879004","SNOMEDCT:254913005","medgen:52949","HP:0010786"],"information_content":55.4}
{"id":"MONDO:0021068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian neoplasm","equivalent_identifiers":["MONDO:0021068","EFO:0003893","UMLS:C0919267","MEDDRA:10033271","MEDDRA:10033272","MEDDRA:10061535","NCIT:C4984","SNOMEDCT:123843001","medgen:181539","HP:0100615"],"information_content":58.1}
{"id":"MONDO:0021071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal neoplasm","equivalent_identifiers":["MONDO:0021071","EFO:0003817","UMLS:C0023055","MESH:D007822","MEDDRA:10023840","MEDDRA:10023841","MEDDRA:10023843","MEDDRA:10028995","NCIT:C3156","SNOMEDCT:126692004","medgen:7271","HP:0100605"],"information_content":67.6}
{"id":"MONDO:0021081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anti-NMDA receptor encephalitis","equivalent_identifiers":["MONDO:0021081","orphanet:217253","UMLS:C2986717","UMLS:C5700343","MESH:D060426","MEDDRA:10072379","NCIT:C94853","SNOMEDCT:1259087007","SNOMEDCT:452281000124106","SNOMEDCT:716684004","medgen:458943","icd11.foundation:1568915618"],"information_content":100.0}
{"id":"MONDO:0021083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital fibrosis of extraocular muscles type 1","equivalent_identifiers":["MONDO:0021083","DOID:0081015","OMIM:135700","UMLS:C1851102","medgen:376943"],"information_content":100.0}
{"id":"MONDO:0021085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric neoplasm","equivalent_identifiers":["MONDO:0021085","EFO:0003897","UMLS:C0038356","UMLS:C4020813","MESH:D013274","MEDDRA:10051828","MEDDRA:10061968","NCIT:C3387","SNOMEDCT:126824007","medgen:20958","HP:0006753"],"information_content":63.5}
{"id":"MONDO:0021093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranioectodermal dysplasia 1","equivalent_identifiers":["MONDO:0021093","DOID:0080803","OMIM:218330","UMLS:C0432235","MESH:C562966","medgen:96586"],"information_content":100.0}
{"id":"MONDO:0021094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency disease","equivalent_identifiers":["MONDO:0021094","OMIM.PS:300755","UMLS:C0021051","MEDDRA:10021451","MEDDRA:10021460","MEDDRA:10045922","MEDDRA:10061598","NCIT:C3131","NCIT:C39725","SNOMEDCT:234532001","medgen:7034","HP:0002721"],"information_content":62.2}
{"id":"MONDO:0021095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinsonism","equivalent_identifiers":["MONDO:0021095","DOID:0080855","UMLS:C0242422","MESH:D020734","MEDDRA:10034010","MEDDRA:10073684","NCIT:C116922","SNOMEDCT:32798002","medgen:66079","HP:0001300"],"information_content":73.0}
{"id":"MONDO:0021097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intraductal breast papilloma","equivalent_identifiers":["MONDO:0021097","DOID:1626","EFO:1000306","UMLS:C0238034","UMLS:C4060446","MEDDRA:10022781","MEDDRA:10078162","NCIT:C3863","SNOMEDCT:254848002","SNOMEDCT:99571000119102","medgen:65944","HP:6000102"],"information_content":87.2}
{"id":"MONDO:0021100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast neoplasm","equivalent_identifiers":["MONDO:0021100","EFO:0003869","UMLS:C1458155","MESH:D001943","MEDDRA:10006279","MEDDRA:10006285","MEDDRA:10028985","NCIT:C2910","SNOMEDCT:126926005","medgen:264172","HP:0100013"],"information_content":56.4}
{"id":"MONDO:0021105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NAFLD1","equivalent_identifiers":["MONDO:0021105","OMIM:613282","UMLS:C2750440","medgen:413307"],"information_content":100.0}
{"id":"MONDO:0021108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meningitis","equivalent_identifiers":["MONDO:0021108","UMLS:C0025289","MESH:D008581","MEDDRA:10027199","MEDDRA:10027251","MEDDRA:10027252","NCIT:C26828","SNOMEDCT:7180009","medgen:6298","HP:0001287"],"information_content":77.6}
{"id":"MONDO:0021111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ureter neoplasm","equivalent_identifiers":["MONDO:0021111","EFO:0003844","UMLS:C0041955","MEDDRA:10051868","MEDDRA:10062221","NCIT:C3427","SNOMEDCT:126882009","medgen:12011","HP:0100516"],"information_content":74.6}
{"id":"MONDO:0021113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"respiratory failure","equivalent_identifiers":["MONDO:0021113","DOID:11162","EFO:0009686","UMLS:C0264492","UMLS:C1145670","MESH:D012131","MEDDRA:10009126","MEDDRA:10016162","MEDDRA:10038651","MEDDRA:10038695","NCIT:C26872","SNOMEDCT:39871006","SNOMEDCT:409622000","medgen:257837","icd11.foundation:370028006","ICD10:J96.0","ICD9:518.81","HP:0002878"],"information_content":83.6}
{"id":"MONDO:0021117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung neoplasm","equivalent_identifiers":["MONDO:0021117","UMLS:C0024121","MESH:D008175","MEDDRA:10049790","MEDDRA:10062042","NCIT:C3200","SNOMEDCT:126713003","medgen:7400","HP:0100526"],"information_content":58.1}
{"id":"MONDO:0021124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"female infertility","equivalent_identifiers":["MONDO:0021124","EFO:0008560","UMLS:C0021361","MESH:D007247","MEDDRA:10016398","MEDDRA:10021928","MEDDRA:10021940","NCIT:C181774","SNOMEDCT:6738008","medgen:5795","icd11.foundation:1237004558","HP:0008222"],"information_content":71.3}
{"id":"MONDO:0021129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia","equivalent_identifiers":["MONDO:0021129","DOID:10629","EFO:0005569","UMLS:C0026010","UMLS:C4280625","UMLS:C4280808","MESH:D008850","MEDDRA:10010544","MEDDRA:10027547","MEDDRA:10027548","MEDDRA:10027550","MEDDRA:10040702","NCIT:C98989","SNOMEDCT:204108000","SNOMEDCT:61142002","medgen:10033","ICD9:743.1","HP:0000568"],"information_content":72.1}
{"id":"MONDO:0021148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"female reproductive system neoplasm","equivalent_identifiers":["MONDO:0021148","UMLS:C0017416","MESH:D005833","MEDDRA:10016412","MEDDRA:10016418","MEDDRA:10061153","NCIT:C3053","medgen:9004","HP:0033020"],"information_content":50.9}
{"id":"MONDO:0021163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kidney neoplasm","equivalent_identifiers":["MONDO:0021163","EFO:0003865","UMLS:C0022665","MEDDRA:10028979","MEDDRA:10038484","MEDDRA:10038485","MEDDRA:10038486","MEDDRA:10061482","MEDDRA:10079228","MEDDRA:10079235","NCIT:C3150","SNOMEDCT:126880001","medgen:5967","HP:0009726"],"information_content":61.5}
{"id":"MONDO:0021167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myositis","equivalent_identifiers":["MONDO:0021167","DOID:633","EFO:0000783","UMLS:C0027121","MESH:D009220","MEDDRA:10028313","MEDDRA:10028653","NCIT:C27578","SNOMEDCT:128496001","SNOMEDCT:26889001","medgen:44564","ICD10:M60","HP:0100614"],"information_content":73.3}
{"id":"MONDO:0021169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelioid hemangioma","equivalent_identifiers":["MONDO:0021169","DOID:474","orphanet:675396","UMLS:C0205788","MEDDRA:10048637","NCIT:C4298","SNOMEDCT:125574005","SNOMEDCT:189869009","SNOMEDCT:33929001","medgen:61449","HP:0032060"],"information_content":88.2}
{"id":"MONDO:0021172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Timothy syndrome, atypical type","equivalent_identifiers":["MONDO:0021172","orphanet:595109","UMLS:C5575746","SNOMEDCT:1230097004","SNOMEDCT:719907006","medgen:1805271"],"information_content":100.0}
{"id":"MONDO:0021187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlipidemia","equivalent_identifiers":["MONDO:0021187","UMLS:C0020473","MESH:D006949","MEDDRA:10020661","MEDDRA:10020662","MEDDRA:10020663","MEDDRA:10020667","MEDDRA:10062060","NCIT:C34707","SNOMEDCT:55822004","medgen:5692","HP:0003077"],"information_content":67.3}
{"id":"MONDO:0021192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontogenic neoplasm","equivalent_identifiers":["MONDO:0021192","UMLS:C0028880","MESH:D009808","NCIT:C3286","SNOMEDCT:127578009","SNOMEDCT:3833004","medgen:10426","HP:0100612"],"information_content":72.6}
{"id":"MONDO:0021204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic otitis media","equivalent_identifiers":["MONDO:0021204","UMLS:C0271441","UMLS:C0743359","MEDDRA:10033081","MEDDRA:10033082","SNOMEDCT:21186006","medgen:75751","icd11.foundation:38010200","HP:0000389"],"information_content":86.3}
{"id":"MONDO:0021209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart neoplasm","equivalent_identifiers":["MONDO:0021209","EFO:1001339","UMLS:C0018809","MEDDRA:10007590","NCIT:C3081","SNOMEDCT:387842002","medgen:9172","HP:0100544"],"information_content":70.4}
{"id":"MONDO:0021210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trachea neoplasm","equivalent_identifiers":["MONDO:0021210","EFO:1001437","UMLS:C0040582","MESH:D014134","MEDDRA:10051866","MEDDRA:10062133","NCIT:C3419","medgen:21602","HP:0100551"],"information_content":83.1}
{"id":"MONDO:0021211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain neoplasm","equivalent_identifiers":["MONDO:0021211","EFO:0003833","UMLS:C0006118","UMLS:C1527390","MEDDRA:10006132","MEDDRA:10006153","MEDDRA:10006154","MEDDRA:10006156","MEDDRA:10029088","MEDDRA:10061019","MEDDRA:10061030","MEDDRA:10088956","MEDDRA:10088957","NCIT:C2907","NCIT:C4953","SNOMEDCT:126952004","SNOMEDCT:254935002","medgen:14216","HP:0030692"],"information_content":57.2}
{"id":"MONDO:0021227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal gland neoplasm","equivalent_identifiers":["MONDO:0021227","orphanet:100091","EFO:0003850","UMLS:C0001624","MEDDRA:10001375","MEDDRA:10001376","MEDDRA:10028981","MEDDRA:10061588","NCIT:C2859","SNOMEDCT:127021009","medgen:1352","HP:0100631"],"information_content":67.6}
{"id":"MONDO:0021234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spinal Neoplasm","equivalent_identifiers":["MONDO:0021234","EFO:0003828","UMLS:C0037930","UMLS:C0037939","MESH:D013120","MESH:D013125","MEDDRA:10049762","MEDDRA:10062261","NCIT:C168693","NCIT:C3381","SNOMEDCT:126962006","SNOMEDCT:709289008","medgen:11551","HP:0010302"],"information_content":72.8}
{"id":"MONDO:0021239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urethra neoplasm","equivalent_identifiers":["MONDO:0021239","EFO:0003846","UMLS:C0041971","MESH:D014523","MEDDRA:10046458","MEDDRA:10051869","MEDDRA:10062223","NCIT:C3428","SNOMEDCT:126883004","medgen:12014","HP:0100517"],"information_content":73.0}
{"id":"MONDO:0021240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tongue neoplasm","equivalent_identifiers":["MONDO:0021240","EFO:0003871","UMLS:C0040411","MEDDRA:10051830","MEDDRA:10062129","NCIT:C3416","SNOMEDCT:126778001","medgen:52778","HP:0100648"],"information_content":75.8}
{"id":"MONDO:0021245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mouth neoplasm","equivalent_identifiers":["MONDO:0021245","EFO:0003868","UMLS:C0026640","UMLS:C0149744","UMLS:C4280289","MESH:D009062","MEDDRA:10028029","MEDDRA:10028999","MEDDRA:10029001","MEDDRA:10031008","MEDDRA:10059037","MEDDRA:10061325","NCIT:C7606","NCIT:C8989","SNOMEDCT:1071000119107","SNOMEDCT:126797001","SNOMEDCT:235075007","medgen:7722","HP:0100649"],"information_content":61.3}
{"id":"MONDO:0021246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pharynx neoplasm","equivalent_identifiers":["MONDO:0021246","UMLS:C0031347","MEDDRA:10052180","MEDDRA:10062075","NCIT:C3325","SNOMEDCT:126685009","medgen:45844","HP:0100638"],"information_content":62.3}
{"id":"MONDO:0021248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nervous system neoplasm","equivalent_identifiers":["MONDO:0021248","UMLS:C0027766","MEDDRA:10029208","MEDDRA:10061311","NCIT:C3268","SNOMEDCT:126950007","medgen:45046","HP:0004375"],"information_content":50.1}
{"id":"MONDO:0021253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gallbladder neoplasm","equivalent_identifiers":["MONDO:0021253","EFO:0004606","UMLS:C0016978","UMLS:C4020708","MESH:D005706","MEDDRA:10050033","MEDDRA:10050034","MEDDRA:10073072","NCIT:C3048","SNOMEDCT:126854002","medgen:42134","HP:0100575"],"information_content":69.2}
{"id":"MONDO:0021259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate neoplasm","equivalent_identifiers":["MONDO:0021259","DOID:13206","UMLS:C0033578","UMLS:C0748012","MEDDRA:10029002","MEDDRA:10029096","MEDDRA:10036927","MEDDRA:10036965","MEDDRA:10077903","NCIT:C3343","SNOMEDCT:126906006","medgen:18697","ICD10:N40","ICD9:600.1","HP:0100787"],"information_content":62.1}
{"id":"MONDO:0021281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cavernous hemangioma of retina","equivalent_identifiers":["MONDO:0021281","UMLS:C0730304","NCIT:C4921","SNOMEDCT:312937006","medgen:152678","HP:0011513"],"information_content":100.0}
{"id":"MONDO:0021348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neoplasm of testis","equivalent_identifiers":["MONDO:0021348","EFO:0004281","UMLS:C0039590","MEDDRA:10043342","MEDDRA:10061379","NCIT:C3404","SNOMEDCT:126900000","medgen:52675","HP:0010788"],"information_content":65.0}
{"id":"MONDO:0021353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tumor of uterus","equivalent_identifiers":["MONDO:0021353","EFO:0003859","UMLS:C0042138","MEDDRA:10029102","MEDDRA:10046803","MEDDRA:10046804","MEDDRA:10046805","NCIT:C3435","SNOMEDCT:126908007","medgen:12030","HP:0010784"],"information_content":56.2}
{"id":"MONDO:0021355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neoplasm of esophagus","equivalent_identifiers":["MONDO:0021355","UMLS:C0014859","MESH:D004938","MEDDRA:10015386","MEDDRA:10030175","MEDDRA:10061882","MEDDRA:10072780","NCIT:C3028","SNOMEDCT:126817006","medgen:4547","HP:0100751"],"information_content":63.9}
{"id":"MONDO:0021360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tumor of parathyroid gland","equivalent_identifiers":["MONDO:0021360","UMLS:C0030521","MESH:D010282","MEDDRA:10033962","MEDDRA:10033963","MEDDRA:10033966","NCIT:C3313","SNOMEDCT:127020005","medgen:10586","HP:0100733"],"information_content":77.8}
{"id":"MONDO:0021392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyp of large intestine","equivalent_identifiers":["MONDO:0021392","UMLS:C0949059","MEDDRA:10048646","MEDDRA:10051589","NCIT:C5679","SNOMEDCT:399505005","medgen:182694","icd11.foundation:537826614","HP:0200063"],"information_content":76.0}
{"id":"MONDO:0021398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyp of rectum","equivalent_identifiers":["MONDO:0021398","UMLS:C0034887","MEDDRA:10038074","NCIT:C3351","SNOMEDCT:39772007","medgen:11150","icd11.foundation:2101432719","HP:0100896"],"information_content":89.4}
{"id":"MONDO:0021420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyp of vocal cord","equivalent_identifiers":["MONDO:0021420","EFO:0009478","UMLS:C0042929","MEDDRA:10036130","MEDDRA:10047675","NCIT:C3440","SNOMEDCT:9078005","medgen:21887","icd11.foundation:1351291002","HP:0032041"],"information_content":100.0}
{"id":"MONDO:0021427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"squamous cell carcinoma of lip","equivalent_identifiers":["MONDO:0021427","orphanet:502366","UMLS:C0280302","MEDDRA:10064055","NCIT:C4042","SNOMEDCT:255071008","medgen:79099","icd11.foundation:1635251327"],"information_content":95.4}
{"id":"MONDO:0021454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Limbal dermoid","equivalent_identifiers":["MONDO:0021454","UMLS:C0496897","UMLS:C1867616","MEDDRA:10004263","MEDDRA:10004325","MEDDRA:10004326","MEDDRA:10030056","NCIT:C4780","SNOMEDCT:5131000119107","SNOMEDCT:92097004","medgen:401267","HP:0001140"],"information_content":73.0}
{"id":"MONDO:0021533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal neuroendocrine tumor G1","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["MONDO:0021533","OMIM:114900","UMLS:C0349535","MESH:C562842","NCIT:C4637","SNOMEDCT:276816003","medgen:138099"],"information_content":80.9}
{"id":"MONDO:0021542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemangioma of choroid","equivalent_identifiers":["MONDO:0021542","UMLS:C0346390","MEDDRA:10070957","MEDDRA:10070960","NCIT:C4562","SNOMEDCT:255022003","medgen:83424","HP:0007872"],"information_content":100.0}
{"id":"MONDO:0021547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amelogenesis imperfecta type 3B","equivalent_identifiers":["MONDO:0021547","DOID:0080243","OMIM:617607","UMLS:C4539891","medgen:1621302"],"information_content":100.0}
{"id":"MONDO:0021548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"total early-onset cataract","equivalent_identifiers":["MONDO:0021548","orphanet:98994","UMLS:C0266539","SNOMEDCT:29590001","medgen:75616"],"information_content":100.0}
{"id":"MONDO:0021562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"omphalitis","equivalent_identifiers":["MONDO:0021562","UMLS:C0028992","UMLS:C0158947","MEDDRA:10030306","MEDDRA:10030307","NCIT:C116008","SNOMEDCT:239095007","SNOMEDCT:42052009","medgen:508000","HP:0032435"],"information_content":95.4}
{"id":"MONDO:0021568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal tubule disorder","equivalent_identifiers":["MONDO:0021568","EFO:0009566","UMLS:C0151747","UMLS:C0268709","MEDDRA:10013277","MEDDRA:10023440","MEDDRA:10023442","MEDDRA:10029156","MEDDRA:10038537","MEDDRA:10038539","MEDDRA:10050335","SNOMEDCT:7703001","SNOMEDCT:95568003","medgen:57484","HP:0000124"],"information_content":67.1}
{"id":"MONDO:0021569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Emery-Dreifuss muscular dystrophy 2, autosomal dominant","equivalent_identifiers":["MONDO:0021569","DOID:0070247","OMIM:181350","UMLS:C0410190","UMLS:C1834653","MESH:C535898","NCIT:C126745","SNOMEDCT:1010712009","SNOMEDCT:240072005","SNOMEDCT:718178006","medgen:98048","ICD10:G71.0"],"information_content":100.0}
{"id":"MONDO:0021571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple sclerosis, susceptibility to 1","equivalent_identifiers":["MONDO:0021571","OMIM:126200","UMLS:C3888106","medgen:854774"],"information_content":100.0}
{"id":"MONDO:0021573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oocyte maturation defect 2","equivalent_identifiers":["MONDO:0021573","OMIM:616780","UMLS:C4225210","medgen:903836"],"information_content":100.0}
{"id":"MONDO:0021574","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oocyte maturation defect 3","equivalent_identifiers":["MONDO:0021574","OMIM:617712","UMLS:C4540205","medgen:1617317"],"information_content":100.0}
{"id":"MONDO:0021575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oocyte maturation defect 4","equivalent_identifiers":["MONDO:0021575","OMIM:617743","UMLS:C4540284","NCIT:C188145","medgen:1616340"],"information_content":100.0}
{"id":"MONDO:0021582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lentigo","equivalent_identifiers":["MONDO:0021582","OMIM:150900","UMLS:C0023321","MESH:D007911","MEDDRA:10024217","MEDDRA:10087525","NCIT:C3159","SNOMEDCT:402624000","SNOMEDCT:767376003","medgen:7301"],"information_content":95.4}
{"id":"MONDO:0021642","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulval varices","equivalent_identifiers":["MONDO:0021642","UMLS:C0155796","MEDDRA:10047028","MEDDRA:10047769","SNOMEDCT:48868008","medgen:510083","icd11.foundation:53329171","HP:0100677"],"information_content":100.0}
{"id":"MONDO:0021651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synpolydactyly","equivalent_identifiers":["MONDO:0021651","orphanet:93403","UMLS:C0265553","UMLS:C2699746","MESH:C538153","MEDDRA:10063143","NCIT:C125597","NCIT:C75003","SNOMEDCT:715724002","SNOMEDCT:84598000","medgen:437845"],"information_content":86.3}
{"id":"MONDO:0021660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deep seated dermatophytosis","equivalent_identifiers":["MONDO:0021660","orphanet:397587","UMLS:C1395264","MEDDRA:10012095","MEDDRA:10053419","NCIT:C35073","SNOMEDCT:266152000","medgen:235599","HP:0032515"],"information_content":100.0}
{"id":"MONDO:0021667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuralgia","equivalent_identifiers":["MONDO:0021667","EFO:0009430","UMLS:C0027796","UMLS:C0751373","MESH:D009437","MEDDRA:10029223","MEDDRA:10029226","NCIT:C79695","SNOMEDCT:16269008","medgen:18010","HP:0033345"],"information_content":82.1}
{"id":"MONDO:0021718","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyneuritis","equivalent_identifiers":["MONDO:0021718","UMLS:C0032541","MEDDRA:10036104","NCIT:C26864","SNOMEDCT:76886005","medgen:46005","HP:0031003"],"information_content":88.2}
{"id":"MONDO:0021722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvodynia","equivalent_identifiers":["MONDO:0021722","UMLS:C0406670","MESH:D056650","MEDDRA:10047781","MEDDRA:10083319","SNOMEDCT:162145001","SNOMEDCT:238968009","medgen:96066","icd11.foundation:1539507119","HP:0030943"],"information_content":100.0}
{"id":"MONDO:0021812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cylindroma","equivalent_identifiers":["MONDO:0021812","UMLS:C1305968","UMLS:C5441545","MEDDRA:10012425","NCIT:C27094","SNOMEDCT:274903001","SNOMEDCT:447147008","SNOMEDCT:64773009","HP:0031024"],"information_content":89.4}
{"id":"MONDO:0021902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortopulmonary window","equivalent_identifiers":["MONDO:0021902","UMLS:C0003516","MESH:D001028","MEDDRA:10063732","MEDDRA:10063733","NCIT:C101050","SNOMEDCT:17024001","medgen:365","HP:0011604"],"information_content":100.0}
{"id":"MONDO:0022013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Boerhaave syndrome","equivalent_identifiers":["MONDO:0022013","UMLS:C0238115","MESH:C536571","MEDDRA:10061515","SNOMEDCT:19995004","medgen:65948","HP:0005203"],"information_content":100.0}
{"id":"MONDO:0022113","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central centrifugal cicatricial alopecia","equivalent_identifiers":["MONDO:0022113","OMIM:618352","UMLS:C1274708","SNOMEDCT:109441000119102","medgen:698033"],"information_content":100.0}
{"id":"MONDO:0022236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colpocephaly","equivalent_identifiers":["MONDO:0022236","UMLS:C0431384","MESH:C535973","MEDDRA:10064178","SNOMEDCT:253160006","medgen:98131","icd11.foundation:845275248","HP:0030048"],"information_content":100.0}
{"id":"MONDO:0022330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"4-hydroxyphenylacetic aciduria","equivalent_identifiers":["MONDO:0022330","UMLS:C1848680","MESH:C535315","medgen:376417","HP:0003607"],"information_content":100.0}
{"id":"MONDO:0022349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital absence of septum pellucidum","equivalent_identifiers":["MONDO:0022349","UMLS:C0431371","MESH:C535562","MEDDRA:10062267","SNOMEDCT:253143001","medgen:96561","HP:0001331"],"information_content":92.8}
{"id":"MONDO:0022394","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical intraepithelial neoplasia","equivalent_identifiers":["MONDO:0022394","UMLS:C0206708","MEDDRA:10049703","MEDDRA:10056576","NCIT:C3782","SNOMEDCT:285636001","medgen:60214","HP:0032242"],"information_content":80.9}
{"id":"MONDO:0022430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent fetal circulation syndrome","equivalent_identifiers":["MONDO:0022430","EFO:1001103","UMLS:C0031190","MESH:D010547","MEDDRA:10034708","MEDDRA:10034709","MEDDRA:10053592","MEDDRA:10054726","MEDDRA:10082195","MEDDRA:10083882","NCIT:C85006","SNOMEDCT:206597007","SNOMEDCT:233815004","SNOMEDCT:35604006","medgen:45824","HP:0011726"],"information_content":100.0}
{"id":"MONDO:0022535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carotidynia","equivalent_identifiers":["MONDO:0022535","UMLS:C0238902","MEDDRA:10051550","MEDDRA:10051561","SNOMEDCT:21615003","SNOMEDCT:230482003","medgen:536866","HP:6000944"],"information_content":100.0}
{"id":"MONDO:0022568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bidirectional tachycardia","equivalent_identifiers":["MONDO:0022568","UMLS:C2930902","MESH:C535438","SNOMEDCT:1204171000","medgen:418944","HP:0034040"],"information_content":100.0}
{"id":"MONDO:0022685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar agenesis","equivalent_identifiers":["MONDO:0022685","UMLS:C4022808","medgen:868414","HP:0012642"],"information_content":100.0}
{"id":"MONDO:0022687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar degeneration","equivalent_identifiers":["MONDO:0022687","DOID:1443","UMLS:C0262404","UMLS:C0740279","UMLS:C4020873","MEDDRA:10008027","NCIT:C84624","SNOMEDCT:95646004","medgen:75496","ICD9:331.9","HP:0001272"],"information_content":65.8}
{"id":"MONDO:0022697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"athetoid cerebral palsy","equivalent_identifiers":["MONDO:0022697","DOID:0050672","UMLS:C0270742","MEDDRA:10068804","MEDDRA:10086398","NCIT:C97169","SNOMEDCT:230780007","SNOMEDCT:75019001","medgen:82853","HP:0011445"],"information_content":100.0}
{"id":"MONDO:0022735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroid plexus cyst","equivalent_identifiers":["MONDO:0022735","UMLS:C0338597","NCIT:C4351","SNOMEDCT:230790004","medgen:87376","HP:0002190"],"information_content":100.0}
{"id":"MONDO:0022790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cleft tongue","equivalent_identifiers":["MONDO:0022790","UMLS:C0266111","UMLS:C4255098","SNOMEDCT:84557007","medgen:82731","HP:0010297"],"information_content":95.4}
{"id":"MONDO:0022799","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cold urticaria","equivalent_identifiers":["MONDO:0022799","EFO:1001881","UMLS:C0221207","MESH:D000096703","MEDDRA:10009869","MEDDRA:10009870","MEDDRA:10046741","SNOMEDCT:74774004","medgen:472942","icd11.foundation:915116593","HP:0410135"],"information_content":100.0}
{"id":"MONDO:0022823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital contractures","equivalent_identifiers":["MONDO:0022823","UMLS:C0332878","medgen:83066","HP:0002803"],"information_content":87.2}
{"id":"MONDO:0023069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enlarged vestibular aqueduct syndrome","equivalent_identifiers":["MONDO:0023069","DOID:0050332","UMLS:C1863752","medgen:355050","HP:0011387"],"information_content":95.4}
{"id":"MONDO:0023171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"foix chavany Marie syndrome","equivalent_identifiers":["MONDO:0023171","orphanet:2048","UMLS:C2931412","MESH:C537069","MEDDRA:10083275","MEDDRA:10083277","SNOMEDCT:720956003","medgen:419406"],"information_content":100.0}
{"id":"MONDO:0023188","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Freiberg disease","equivalent_identifiers":["MONDO:0023188","orphanet:564003","UMLS:C0264099","MESH:C535636","MEDDRA:10054042","SNOMEDCT:28466007","medgen:75532","icd11.foundation:74359553"],"information_content":100.0}
{"id":"MONDO:0023201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fryns Smeets Thiry syndrome","equivalent_identifiers":["MONDO:0023201","orphanet:2058","UMLS:C5680810","SNOMEDCT:1208344000","medgen:1803270"],"information_content":100.0}
{"id":"MONDO:0023275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Graham-Boyle-Troxell syndrome","equivalent_identifiers":["MONDO:0023275","orphanet:2111","UMLS:C2931468","MESH:C537292","SNOMEDCT:707530009","medgen:444062"],"information_content":100.0}
{"id":"MONDO:0023419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperprolinemia","equivalent_identifiers":["MONDO:0023419","DOID:0080541","UMLS:C0268528","MEDDRA:10058509","MEDDRA:10058515","SNOMEDCT:59655002","medgen:75690","HP:0008358"],"information_content":92.8}
{"id":"MONDO:0023597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal papillomatosis","equivalent_identifiers":["MONDO:0023597","UMLS:C0396072","MESH:C537876","MEDDRA:10023850","NCIT:C157733","SNOMEDCT:232457008","medgen:96006","HP:0033001"],"information_content":100.0}
{"id":"MONDO:0023619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lentigo maligna melanoma","equivalent_identifiers":["MONDO:0023619","UMLS:C2739810","MEDDRA:10024219","NCIT:C9151","SNOMEDCT:302837001","SNOMEDCT:44474009","medgen:439437","icd11.foundation:2011782924","HP:0012059"],"information_content":88.2}
{"id":"MONDO:0023655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 14b, autosomal recessive","equivalent_identifiers":["MONDO:0023655","OMIM:619281","UMLS:C5543301","medgen:1787468"],"information_content":100.0}
{"id":"MONDO:0023657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal dominant 65","equivalent_identifiers":["MONDO:0023657","DOID:0061038","OMIM:619320","UMLS:C5543371","medgen:1787923"],"information_content":100.0}
{"id":"MONDO:0023659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy 96","equivalent_identifiers":["MONDO:0023659","DOID:0070377","OMIM:619340","UMLS:C5543446","medgen:1780167"],"information_content":100.0}
{"id":"MONDO:0023660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioedema, hereditary, 6","equivalent_identifiers":["MONDO:0023660","OMIM:619363","UMLS:C5543516","medgen:1785484"],"information_content":100.0}
{"id":"MONDO:0023662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 10","equivalent_identifiers":["MONDO:0023662","OMIM:619369","UMLS:C5543531","medgen:1780452"],"information_content":100.0}
{"id":"MONDO:0023664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 54","equivalent_identifiers":["MONDO:0023664","DOID:0112335","OMIM:619379","UMLS:C5543570","medgen:1782493"],"information_content":100.0}
{"id":"MONDO:0023670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bardet-Biedl syndrome 20","equivalent_identifiers":["MONDO:0023670","DOID:0081009","OMIM:619471","UMLS:C4310707","medgen:934674"],"information_content":100.0}
{"id":"MONDO:0023671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculopharyngodistal myopathy 3","equivalent_identifiers":["MONDO:0023671","DOID:0081299","OMIM:619473","UMLS:C5561956","medgen:1794166"],"information_content":100.0}
{"id":"MONDO:0023682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tympanic paraganglioma","equivalent_identifiers":["MONDO:0023682","UMLS:C0474820","UMLS:C1866555","MESH:D043604","MEDDRA:10069919","MEDDRA:10069920","NCIT:C8428","SNOMEDCT:253031000","medgen:105375","HP:0006715"],"information_content":100.0}
{"id":"MONDO:0023691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maple syrup urine disease type 1A","equivalent_identifiers":["MONDO:0023691","OMIM:248600","UMLS:C1855369","medgen:383668"],"information_content":100.0}
{"id":"MONDO:0023692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maple syrup urine disease type 1B","equivalent_identifiers":["MONDO:0023692","OMIM:620698","UMLS:C2930990","MESH:C535711","medgen:443951"],"information_content":100.0}
{"id":"MONDO:0023693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maple syrup urine disease type 2","equivalent_identifiers":["MONDO:0023693","OMIM:620699","UMLS:C1855371","MESH:C535712","medgen:343337"],"information_content":100.0}
{"id":"MONDO:0024238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral degeneration","equivalent_identifiers":["MONDO:0024238","UMLS:C0154671","MEDDRA:10008103","MEDDRA:10064822","SNOMEDCT:418143002","SNOMEDCT:52522001","medgen:56343","HP:0007313"],"information_content":55.2}
{"id":"MONDO:0024264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypothyroidism, congenital, nongoitrous, 2","equivalent_identifiers":["MONDO:0024264","DOID:0070124","OMIM:218700","UMLS:C1563716","UMLS:C1869118","MESH:C566852","MESH:D050033","NCIT:C85190","medgen:358389","HP:0008188"],"information_content":89.4}
{"id":"MONDO:0024265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Duane syndrome type 1","equivalent_identifiers":["MONDO:0024265","DOID:0061027","OMIM:126800","UMLS:C0994516","UMLS:C1263871","SNOMEDCT:128082002","medgen:201329"],"information_content":100.0}
{"id":"MONDO:0024266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patent ductus arteriosus 3","equivalent_identifiers":["MONDO:0024266","OMIM:617039","UMLS:C4310753","medgen:934720"],"information_content":100.0}
{"id":"MONDO:0024280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Polyarthritis","equivalent_identifiers":["MONDO:0024280","UMLS:C0162323","UMLS:C1692871","UMLS:C1692872","MEDDRA:10021994","MEDDRA:10036030","MEDDRA:10045965","MEDDRA:10087937","NCIT:C197299","NCIT:C26996","SNOMEDCT:416956002","SNOMEDCT:417373000","medgen:56408","HP:0005764"],"information_content":92.8}
{"id":"MONDO:0024288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperbilirubinemia","equivalent_identifiers":["MONDO:0024288","UMLS:C0020433","UMLS:C0311468","MESH:D006932","MEDDRA:10004688","MEDDRA:10004690","MEDDRA:10004702","MEDDRA:10004705","MEDDRA:10005364","MEDDRA:10020578","MEDDRA:10020582","MEDDRA:10037805","NCIT:C27088","SNOMEDCT:14783006","SNOMEDCT:26165005","medgen:86321","HP:0002904"],"information_content":80.6}
{"id":"MONDO:0024290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enuresis","equivalent_identifiers":["MONDO:0024290","UMLS:C0014394","MESH:D004775","MEDDRA:10014928","NCIT:C34588","medgen:8649","icd11.foundation:1157749237","HP:0000805"],"information_content":90.9}
{"id":"MONDO:0024292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastrointestinal polyp","equivalent_identifiers":["MONDO:0024292","UMLS:C0744333","UMLS:C1257915","UMLS:C5139418","MESH:D044483","MEDDRA:10057018","MEDDRA:10079055","NCIT:C35516","medgen:219797","HP:0200008"],"information_content":71.0}
{"id":"MONDO:0024296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vascular neoplasm","equivalent_identifiers":["MONDO:0024296","UMLS:C0027668","UMLS:C0282607","MESH:D019043","MEDDRA:10055031","MEDDRA:10057189","NCIT:C7388","SNOMEDCT:115235003","SNOMEDCT:126736007","SNOMEDCT:699605009","medgen:129202","HP:0100742"],"information_content":61.9}
{"id":"MONDO:0024300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypophosphatemic rickets","equivalent_identifiers":["MONDO:0024300","UMLS:C1704375","MESH:D063730","MEDDRA:10060873","MEDDRA:10060883","NCIT:C131449","SNOMEDCT:66266003","medgen:309957","HP:0004912"],"information_content":84.8}
{"id":"MONDO:0024309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuropathy, hereditary sensory and autonomic, type 2A","equivalent_identifiers":["MONDO:0024309","DOID:0070155","OMIM:201300","UMLS:C2752089","SNOMEDCT:860809000","medgen:416701"],"information_content":100.0}
{"id":"MONDO:0024333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sciatica","equivalent_identifiers":["MONDO:0024333","UMLS:C0036396","MESH:D012585","MEDDRA:10039673","MEDDRA:10039674","MEDDRA:10050221","MEDDRA:10056572","SNOMEDCT:23056005","medgen:19893","icd11.foundation:2056651014","HP:0011868"],"information_content":95.4}
{"id":"MONDO:0024335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retrobulbar neuritis","equivalent_identifiers":["MONDO:0024335","UMLS:C0085582","MEDDRA:10029249","MEDDRA:10030945","MEDDRA:10038955","MEDDRA:10038962","SNOMEDCT:230507009","medgen:39312","icd11.foundation:63567539","HP:0100654"],"information_content":95.4}
{"id":"MONDO:0024355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"respiratory tract infectious disorder","equivalent_identifiers":["MONDO:0024355","UMLS:C0035243","MESH:D012141","MEDDRA:10021863","MEDDRA:10024970","MEDDRA:10038700","MEDDRA:10039249","MEDDRA:10046143","MEDDRA:10049083","MEDDRA:10062352","SNOMEDCT:275498002","HP:0011947"],"information_content":71.7}
{"id":"MONDO:0024361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"circadian rhythm sleep disorder","equivalent_identifiers":["MONDO:0024361","UMLS:C0813142","UMLS:C0877792","UMLS:C1833362","MESH:D020178","MEDDRA:10009191","MEDDRA:10041013","NCIT:C95071","SNOMEDCT:271794005","medgen:167920","HP:0006979"],"information_content":80.2}
{"id":"MONDO:0024419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enthesitis","equivalent_identifiers":["MONDO:0024419","UMLS:C1282952","MEDDRA:10058497","NCIT:C114470","SNOMEDCT:359643005","medgen:451081","HP:0100686"],"information_content":95.4}
{"id":"MONDO:0024455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant Robinow syndrome 1","equivalent_identifiers":["MONDO:0024455","DOID:0060766","OMIM:180700","UMLS:C4551475","medgen:1641736"],"information_content":100.0}
{"id":"MONDO:0024456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior segment dysgenesis 3","equivalent_identifiers":["MONDO:0024456","DOID:0080608","OMIM:601631","UMLS:C1866560","UMLS:C1866561","UMLS:C5975707","MESH:C535535","MESH:C566650","medgen:355748"],"information_content":100.0}
{"id":"MONDO:0024457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration with brain iron accumulation 2A","equivalent_identifiers":["MONDO:0024457","DOID:0110735","OMIM:256600","orphanet:35069","UMLS:C0270724","UMLS:C2931102","MESH:C536071","MEDDRA:10088200","NCIT:C202073","NCIT:C84927","SNOMEDCT:52713000","medgen:82852","ICD10:G23.0"],"information_content":100.0}
{"id":"MONDO:0024463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian dysgenesis 1","equivalent_identifiers":["MONDO:0024463","DOID:0080493","OMIM:233300","UMLS:C0949595","medgen:215397"],"information_content":100.0}
{"id":"MONDO:0024464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary hormone deficiency, combined, 1","equivalent_identifiers":["MONDO:0024464","DOID:0061019","OMIM:613038","UMLS:C2751608","MESH:C567803","medgen:414421"],"information_content":100.0}
{"id":"MONDO:0024465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"surfactant metabolism dysfunction, pulmonary, 2","equivalent_identifiers":["MONDO:0024465","OMIM:610913","UMLS:C1970470","MESH:C567048","SNOMEDCT:1222677008","medgen:410078"],"information_content":100.0}
{"id":"MONDO:0024466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial paresis, hereditary congenital, 1","equivalent_identifiers":["MONDO:0024466","OMIM:601471","UMLS:C1832284","medgen:371292"],"information_content":100.0}
{"id":"MONDO:0024472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"boutonneuse fever","equivalent_identifiers":["MONDO:0024472","DOID:14095","orphanet:101334","orphanet:83313","UMLS:C0006060","MESH:D001907","MEDDRA:10006045","MEDDRA:10039128","MEDDRA:10057297","SNOMEDCT:186774005","medgen:14205","icd11.foundation:1771381430","ICD10:A77.1","ICD9:082.1"],"information_content":100.0}
{"id":"MONDO:0024477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liver neoplasm","equivalent_identifiers":["MONDO:0024477","DOID:916","EFO:1001513","UMLS:C0023903","UMLS:C1333419","UMLS:C1333976","MESH:D008113","MEDDRA:10019694","MEDDRA:10019695","MEDDRA:10019702","MEDDRA:10024702","MEDDRA:10024717","MEDDRA:10024718","MEDDRA:10024719","MEDDRA:10028996","MEDDRA:10045151","MEDDRA:10073830","MEDDRA:10073831","NCIT:C7103","NCIT:C7106","SNOMEDCT:126851005","medgen:232599","ICD10:C22","HP:0002896"],"information_content":60.4}
{"id":"MONDO:0024506","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adams-Oliver syndrome 1","equivalent_identifiers":["MONDO:0024506","OMIM:100300","UMLS:C1970140","UMLS:C4551482","MESH:C566997","medgen:1635567"],"information_content":100.0}
{"id":"MONDO:0024507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniridia 1","equivalent_identifiers":["MONDO:0024507","DOID:0070532","OMIM:106210","UMLS:C0344542","UMLS:C3805349","SNOMEDCT:253231007","medgen:576337"],"information_content":100.0}
{"id":"MONDO:0024508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, hot water, 1","equivalent_identifiers":["MONDO:0024508","DOID:0081106","OMIM:613339","UMLS:C4551550","medgen:1636069"],"information_content":100.0}
{"id":"MONDO:0024519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Renal dysplasia","equivalent_identifiers":["MONDO:0024519","OMIM:191830","UMLS:C1619700","UMLS:C3536714","MESH:C563261","MEDDRA:10010610","MEDDRA:10038433","MEDDRA:10064655","SNOMEDCT:204949001","medgen:301437","HP:0000110"],"information_content":92.8}
{"id":"MONDO:0024520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal hypodysplasia/aplasia 3","equivalent_identifiers":["MONDO:0024520","OMIM:617805","EFO:0009137","UMLS:C4540497","medgen:1626497"],"information_content":100.0}
{"id":"MONDO:0024521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm, familial abdominal, 1","equivalent_identifiers":["MONDO:0024521","OMIM:100070","UMLS:C1853365","MESH:C565230","medgen:339961"],"information_content":100.0}
{"id":"MONDO:0024522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyloidosis, primary localized cutaneous, 1","equivalent_identifiers":["MONDO:0024522","DOID:0080930","OMIM:105250","UMLS:C0268398","UMLS:C4551501","NCIT:C189282","SNOMEDCT:111390002","SNOMEDCT:237870002","medgen:1639046"],"information_content":92.8}
{"id":"MONDO:0024523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic valve disease 1","equivalent_identifiers":["MONDO:0024523","DOID:0080333","OMIM:109730","UMLS:C0149630","UMLS:C3887892","MESH:D000082882","MEDDRA:10004552","NCIT:C128803","NCIT:C192088","SNOMEDCT:72352009","medgen:854610","HP:0001647"],"information_content":86.3}
{"id":"MONDO:0024524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyschromatosis universalis hereditaria 1","equivalent_identifiers":["MONDO:0024524","OMIM:127500","UMLS:C2675711","MESH:C567273","medgen:390864"],"information_content":100.0}
{"id":"MONDO:0024525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi renotubular syndrome 1","equivalent_identifiers":["MONDO:0024525","DOID:0080757","OMIM:134600","UMLS:C4551503","medgen:1635492"],"information_content":100.0}
{"id":"MONDO:0024526","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zimmermann-Laband syndrome 1","equivalent_identifiers":["MONDO:0024526","OMIM:135500","UMLS:C4551773","medgen:1639277"],"information_content":100.0}
{"id":"MONDO:0024527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomerulopathy with fibronectin deposits 1","equivalent_identifiers":["MONDO:0024527","OMIM:137950","UMLS:C0403557","medgen:98017"],"information_content":100.0}
{"id":"MONDO:0024528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1","equivalent_identifiers":["MONDO:0024528","DOID:0111521","OMIM:157640","UMLS:C1834846","medgen:371919"],"information_content":100.0}
{"id":"MONDO:0024529","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MVP1","equivalent_identifiers":["MONDO:0024529","OMIM:157700","UMLS:C1834819","MESH:C563573","medgen:320443"],"information_content":100.0}
{"id":"MONDO:0024530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bethlem myopathy 1A","equivalent_identifiers":["MONDO:0024530","OMIM:158810"],"information_content":100.0}
{"id":"MONDO:0024531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, tubular aggregate, 1","equivalent_identifiers":["MONDO:0024531","OMIM:160565","UMLS:C4011726","medgen:860163"],"information_content":100.0}
{"id":"MONDO:0024532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otofaciocervical syndrome 1","equivalent_identifiers":["MONDO:0024532","OMIM:166780","UMLS:C3714941","medgen:811516"],"information_content":100.0}
{"id":"MONDO:0024533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary hypertension, primary, 1","equivalent_identifiers":["MONDO:0024533","OMIM:178600","UMLS:C1969342","UMLS:C1969343","UMLS:C3714844","UMLS:C4552070","NCIT:C174219","medgen:1643124"],"information_content":100.0}
{"id":"MONDO:0024534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dowling-Degos disease 1","equivalent_identifiers":["MONDO:0024534","OMIM:179850","UMLS:C4552092","medgen:1645697"],"information_content":100.0}
{"id":"MONDO:0024535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Singleton-Merten syndrome 1","equivalent_identifiers":["MONDO:0024535","OMIM:182250","UMLS:C4225427","medgen:899946"],"information_content":100.0}
{"id":"MONDO:0024536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucocorticoid deficiency 1","equivalent_identifiers":["MONDO:0024536","DOID:0080621","OMIM:202200","UMLS:C4049650","NCIT:C123727","medgen:885551"],"information_content":100.0}
{"id":"MONDO:0024537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brown-Vialetto-van Laere syndrome 1","equivalent_identifiers":["MONDO:0024537","DOID:0080785","OMIM:211530","orphanet:572543","UMLS:C0796274","NCIT:C133724","medgen:163239"],"information_content":95.4}
{"id":"MONDO:0024538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"basal ganglia calcification, idiopathic, 1","equivalent_identifiers":["MONDO:0024538","OMIM:213600","UMLS:C1847731","UMLS:C4551624","MESH:C537657","MEDDRA:10078822","NCIT:C129973","medgen:1637664"],"information_content":100.0}
{"id":"MONDO:0024539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroidal dystrophy, central areolar, 1","equivalent_identifiers":["MONDO:0024539","OMIM:215500","UMLS:C4551884","medgen:1639900"],"information_content":100.0}
{"id":"MONDO:0024540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Jervell and Lange-Nielsen syndrome 1","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0024540","OMIM:220400","UMLS:C4551509","medgen:1646925"],"information_content":100.0}
{"id":"MONDO:0024541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichohepatoenteric syndrome 1","equivalent_identifiers":["MONDO:0024541","DOID:0111415","OMIM:222470","UMLS:C4551982","medgen:1644087"],"information_content":100.0}
{"id":"MONDO:0024542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1","equivalent_identifiers":["MONDO:0024542","DOID:0070556","OMIM:224050","UMLS:C4551552","medgen:1639436"],"information_content":100.0}
{"id":"MONDO:0024543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brittle cornea syndrome 1","equivalent_identifiers":["MONDO:0024543","OMIM:229200","UMLS:C0268344","MESH:C536192","SNOMEDCT:31798004","medgen:78661"],"information_content":100.0}
{"id":"MONDO:0024545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Miyoshi muscular dystrophy 1","equivalent_identifiers":["MONDO:0024545","DOID:0070199","OMIM:254130","UMLS:C4551973","medgen:1640757"],"information_content":100.0}
{"id":"MONDO:0024546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic osteoarthropathy, primary, autosomal recessive, 1","equivalent_identifiers":["MONDO:0024546","OMIM:259100","UMLS:C4551679","NCIT:C179057","medgen:1641972"],"information_content":100.0}
{"id":"MONDO:0024547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic agenesis 1","equivalent_identifiers":["MONDO:0024547","DOID:0061003","OMIM:260370","UMLS:C3891828","medgen:856095"],"information_content":100.0}
{"id":"MONDO:0024548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peeling skin syndrome 1","equivalent_identifiers":["MONDO:0024548","DOID:0070520","OMIM:270300","orphanet:263553","UMLS:C1849193","UMLS:C5679693","UMLS:C5768235","MESH:C564818","SNOMEDCT:1240462005","SNOMEDCT:724838009","medgen:336530"],"information_content":100.0}
{"id":"MONDO:0024550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontometaphyseal dysplasia 1","equivalent_identifiers":["MONDO:0024550","DOID:0111786","OMIM:305620","UMLS:C4281559","medgen:923943"],"information_content":100.0}
{"id":"MONDO:0024551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked lymphoproliferative disease due to SH2D1A deficiency","equivalent_identifiers":["MONDO:0024551","OMIM:308240","orphanet:538931","UMLS:C5399825","NCIT:C170434","SNOMEDCT:1162828001","medgen:1770239"],"information_content":100.0}
{"id":"MONDO:0024552","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"linear skin defects with multiple congenital anomalies 1","equivalent_identifiers":["MONDO:0024552","DOID:0111808","OMIM:309801","UMLS:C0796070","medgen:163210"],"information_content":100.0}
{"id":"MONDO:0024553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, lactic acidosis, and sideroblastic anemia 1","equivalent_identifiers":["MONDO:0024553","DOID:0111185","OMIM:600462","UMLS:C4551958","medgen:1634824"],"information_content":100.0}
{"id":"MONDO:0024554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"D-2-hydroxyglutaric aciduria 1","equivalent_identifiers":["MONDO:0024554","DOID:0111351","OMIM:600721","UMLS:C3152055","medgen:463405"],"information_content":100.0}
{"id":"MONDO:0024555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephalic leukoencephalopathy with subcortical cysts 1","equivalent_identifiers":["MONDO:0024555","DOID:0080316","OMIM:604004","UMLS:C5779875","medgen:1826136"],"information_content":100.0}
{"id":"MONDO:0024556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial focal, with variable foci 1","equivalent_identifiers":["MONDO:0024556","DOID:0081421","OMIM:604364","UMLS:C4551983","NCIT:C161005","medgen:1641798"],"information_content":100.0}
{"id":"MONDO:0024557","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia-telangiectasia-like disorder 1","equivalent_identifiers":["MONDO:0024557","DOID:0081384","OMIM:604391","orphanet:251347","UMLS:C4012790","NCIT:C132224","medgen:861227"],"information_content":100.0}
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{"id":"MONDO:0024559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm, familial thoracic 1","equivalent_identifiers":["MONDO:0024559","OMIM:607086","orphanet:229","UMLS:C0345050","MESH:C562834","SNOMEDCT:253646008","medgen:91038"],"information_content":100.0}
{"id":"MONDO:0024560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PDA1","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0024560","OMIM:607411","UMLS:C4282128","medgen:924232"],"information_content":100.0}
{"id":"MONDO:0024561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitelliform macular dystrophy 3","equivalent_identifiers":["MONDO:0024561","OMIM:608161"],"information_content":100.0}
{"id":"MONDO:0024562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sick sinus syndrome 1","equivalent_identifiers":["MONDO:0024562","OMIM:608567","UMLS:C1837845","medgen:325270"],"information_content":100.0}
{"id":"MONDO:0024563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"herpes simplex encephalitis, susceptibility to, 1","equivalent_identifiers":["MONDO:0024563","OMIM:610551","UMLS:C2750180","medgen:413772"],"information_content":100.0}
{"id":"MONDO:0024564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebroretinal microangiopathy with calcifications and cysts 1","equivalent_identifiers":["MONDO:0024564","OMIM:612199","UMLS:C4552029","medgen:1636142"],"information_content":100.0}
{"id":"MONDO:0024565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectodermal dysplasia-syndactyly syndrome 1","equivalent_identifiers":["MONDO:0024565","OMIM:613573","UMLS:C3150807","medgen:462157"],"information_content":100.0}
{"id":"MONDO:0024566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"febrile seizures, familial, 11","equivalent_identifiers":["MONDO:0024566","DOID:0111308","OMIM:614418","UMLS:C3280734","medgen:482364"],"information_content":100.0}
{"id":"MONDO:0024567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypotonia, infantile, with psychomotor retardation and characteristic facies 1","equivalent_identifiers":["MONDO:0024567","OMIM:615419","UMLS:C3809454","medgen:815784"],"information_content":100.0}
{"id":"MONDO:0024568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile liver failure syndrome 1","equivalent_identifiers":["MONDO:0024568","DOID:0080717","OMIM:615438","orphanet:370088","UMLS:C3809522","medgen:815852"],"information_content":100.0}
{"id":"MONDO:0024569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 8","equivalent_identifiers":["MONDO:0024569","DOID:0111439","OMIM:616648","UMLS:C4085249","medgen:898923"],"information_content":100.0}
{"id":"MONDO:0024607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital muscular dystrophy with cataracts and intellectual disability","equivalent_identifiers":["MONDO:0024607","DOID:0080197","OMIM:617404","orphanet:662184","EFO:0009149","UMLS:C4479410","medgen:1382291"],"information_content":100.0}
{"id":"MONDO:0024609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvar squamous cell carcinoma","equivalent_identifiers":["MONDO:0024609","DOID:2101","orphanet:494448","EFO:1000624","UMLS:C0280856","MEDDRA:10041875","NCIT:C4052","SNOMEDCT:254895003","medgen:79201","icd11.foundation:146824338","HP:0030417"],"information_content":79.9}
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{"id":"MONDO:0024619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central nervous system infectious disorder","equivalent_identifiers":["MONDO:0024619","EFO:1001456","UMLS:C0007684","UMLS:C4759823","MESH:D002494","MEDDRA:10051551","MEDDRA:10061036","NCIT:C27582","SNOMEDCT:128117002","medgen:1684837","HP:0011450"],"information_content":69.5}
{"id":"MONDO:0024647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urolithiasis","equivalent_identifiers":["MONDO:0024647","DOID:0080653","UMLS:C0451641","MESH:D052878","MEDDRA:10046707","MEDDRA:10046708","NCIT:C114688","SNOMEDCT:95566004","medgen:141536","icd11.foundation:1746821938","HP:0034368"],"information_content":83.1}
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{"id":"MONDO:0024770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammatory syndrome, familial, X-linked, Behcet-like 2","equivalent_identifiers":["MONDO:0024770","OMIM:301074","orphanet:676125","UMLS:C5575495","medgen:1808082"],"information_content":100.0}
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{"id":"MONDO:0024772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, X-linked, syndromic, Pilorge type","equivalent_identifiers":["MONDO:0024772","DOID:0070422","OMIM:301076","UMLS:C5676881","medgen:1803486"],"information_content":100.0}
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{"id":"MONDO:0024781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 102","equivalent_identifiers":["MONDO:0024781","DOID:0061072","OMIM:301082","orphanet:653751","UMLS:C5676886","medgen:1812534"],"information_content":100.0}
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{"id":"MONDO:0025193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculopharyngodistal myopathy","equivalent_identifiers":["MONDO:0025193","DOID:0081296","OMIM.PS:164310","orphanet:98897","UMLS:C1834014","MESH:C563508","SNOMEDCT:763829004","medgen:320250","icd11.foundation:1493269618"],"information_content":89.4}
{"id":"MONDO:0025351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple congenital anomalies-neurodevelopmental syndrome, X-linked","equivalent_identifiers":["MONDO:0025351","OMIM:301056","UMLS:C5542341","medgen:1788942"],"information_content":100.0}
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{"id":"MONDO:0025356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"azoospermia, obstructive, with nephrolithiasis","equivalent_identifiers":["MONDO:0025356","OMIM:301060","UMLS:C5542351","medgen:1779119"],"information_content":100.0}
{"id":"MONDO:0025514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"livedoid vasculopathy","equivalent_identifiers":["MONDO:0025514","DOID:0040099","orphanet:542643","UMLS:C0343081","MESH:D000090122","MEDDRA:10024651","SNOMEDCT:238762002","medgen:575376","icd11.foundation:1237292304","ICD10:L95.0","ICD9:709.1"],"information_content":100.0}
{"id":"MONDO:0025622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1","equivalent_identifiers":["MONDO:0025622","OMIM:500013","UMLS:C5435765","medgen:1731194"],"information_content":100.0}
{"id":"MONDO:0025667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limbal stem cell deficiency","equivalent_identifiers":["MONDO:0025667","orphanet:171673","UMLS:C1561989","MESH:D000092423","MEDDRA:10072138","SNOMEDCT:417089009","medgen:295775","HP:0032107"],"information_content":100.0}
{"id":"MONDO:0025690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly, epilepsy, and diabetes syndrome 2","equivalent_identifiers":["MONDO:0025690","OMIM:619278","UMLS:C5543294","medgen:1782107"],"information_content":100.0}
{"id":"MONDO:0025691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 30","equivalent_identifiers":["MONDO:0025691","DOID:0060937","OMIM:619291","UMLS:C5543312","medgen:1785079"],"information_content":100.0}
{"id":"MONDO:0025699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coffin-Siris syndrome 12","equivalent_identifiers":["MONDO:0025699","DOID:0112370","OMIM:619325","UMLS:C5444111","medgen:1782096"],"information_content":100.0}
{"id":"MONDO:0025701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukodystrophy, hypomyelinating, 22","equivalent_identifiers":["MONDO:0025701","DOID:0070402","OMIM:619328","UMLS:C5543406","NCIT:C201587","medgen:1787833"],"information_content":100.0}
{"id":"MONDO:0025708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megacystis-microcolon-intestinal hypoperistalsis syndrome 2","equivalent_identifiers":["MONDO:0025708","OMIM:619351","UMLS:C5543476","medgen:1788773"],"information_content":100.0}
{"id":"MONDO:0025712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioedema, hereditary, 4","equivalent_identifiers":["MONDO:0025712","OMIM:619360","UMLS:C5543503","medgen:1787336"],"information_content":100.0}
{"id":"MONDO:0025713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioedema, hereditary, 7","equivalent_identifiers":["MONDO:0025713","OMIM:619366","UMLS:C5543526","medgen:1784046"],"information_content":100.0}
{"id":"MONDO:0026404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X inactivation, familial skewed, 1","equivalent_identifiers":["MONDO:0026404","OMIM:300087","UMLS:C1848138","MESH:C564716","medgen:338394"],"information_content":100.0}
{"id":"MONDO:0026720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 1 deficiency, nuclear type 12","equivalent_identifiers":["MONDO:0026720","DOID:0112099","OMIM:301020","UMLS:C4746984","medgen:1648278"],"information_content":100.0}
{"id":"MONDO:0026721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 1 deficiency, nuclear type 30","equivalent_identifiers":["MONDO:0026721","DOID:0112098","OMIM:301021","UMLS:C4746985","medgen:1648313"],"information_content":100.0}
{"id":"MONDO:0026722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mullegama-Klein-Martinez syndrome","equivalent_identifiers":["MONDO:0026722","DOID:0111845","OMIM:301022","UMLS:C5193008","medgen:1683985"],"information_content":100.0}
{"id":"MONDO:0026723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, X-linked 108","equivalent_identifiers":["MONDO:0026723","DOID:0111844","OMIM:301024","UMLS:C5193009","medgen:1680544"],"information_content":100.0}
{"id":"MONDO:0026724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paganini-Miozzo syndrome","equivalent_identifiers":["MONDO:0026724","DOID:0111843","OMIM:301025","EFO:0010261","UMLS:C5193010","medgen:1683361"],"information_content":100.0}
{"id":"MONDO:0026726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 20","equivalent_identifiers":["MONDO:0026726","DOID:0070357","OMIM:301028","UMLS:C5193011","medgen:1678854"],"information_content":100.0}
{"id":"MONDO:0026727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shukla-Vernon syndrome","equivalent_identifiers":["MONDO:0026727","DOID:0111841","OMIM:301029","EFO:0010278","UMLS:C5193146","medgen:1674076"],"information_content":100.0}
{"id":"MONDO:0026729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type ICC","equivalent_identifiers":["MONDO:0026729","DOID:0111839","OMIM:301031","UMLS:C5231393","medgen:1684742"],"information_content":100.0}
{"id":"MONDO:0026730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Basilicata-Akhtar syndrome","equivalent_identifiers":["MONDO:0026730","DOID:0111838","OMIM:301032","UMLS:C5231394","medgen:1684820"],"information_content":100.0}
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{"id":"MONDO:0026732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypothyroidism, congenital, nongoitrous, 9","equivalent_identifiers":["MONDO:0026732","DOID:0111835","OMIM:301035","UMLS:C5231396","medgen:1684807"],"information_content":100.0}
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{"id":"MONDO:0026763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 13, X-linked","equivalent_identifiers":["MONDO:0026763","DOID:0060954","OMIM:301043","UMLS:C5393308","medgen:1714826"],"information_content":100.0}
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{"id":"MONDO:0027407","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kleefstra syndrome 1","equivalent_identifiers":["MONDO:0027407","DOID:0060352","OMIM:610253","UMLS:C0795833","MESH:C563043","NCIT:C129976","SNOMEDCT:724207001","medgen:208639"],"information_content":95.4}
{"id":"MONDO:0027451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cutis laxa type 2D","equivalent_identifiers":["MONDO:0027451","DOID:0070129","OMIM:617403","UMLS:C4479409","medgen:1376619"],"information_content":100.0}
{"id":"MONDO:0027462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive cutis laxa type 2C","equivalent_identifiers":["MONDO:0027462","DOID:0070140","OMIM:617402","UMLS:C4479387","medgen:1385755"],"information_content":100.0}
{"id":"MONDO:0027676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAKUT2","equivalent_identifiers":["MONDO:0027676","DOID:0080207","OMIM:143400","UMLS:C4048262","UMLS:C5574705","medgen:1804316"],"information_content":100.0}
{"id":"MONDO:0027694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 23","equivalent_identifiers":["MONDO:0027694","DOID:0080225","OMIM:617839","UMLS:C4693381","NCIT:C178411","medgen:1645924"],"information_content":100.0}
{"id":"MONDO:0027766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized lipodystrophy","equivalent_identifiers":["MONDO:0027766","DOID:0080298","UMLS:C4317112","MEDDRA:10053858","MEDDRA:10073913","NCIT:C131815","medgen:1369615","HP:0009064"],"information_content":85.5}
{"id":"MONDO:0029130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polydactyly, postaxial, type A8","equivalent_identifiers":["MONDO:0029130","OMIM:618123","UMLS:C4748277","medgen:1648405"],"information_content":100.0}
{"id":"MONDO:0029131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development","equivalent_identifiers":["MONDO:0029131","OMIM:618124","UMLS:C4748283","medgen:1648480"],"information_content":100.0}
{"id":"MONDO:0029132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Liddle syndrome 3","equivalent_identifiers":["MONDO:0029132","OMIM:618126","UMLS:C4748292","medgen:1648443"],"information_content":100.0}
{"id":"MONDO:0029133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, limb-girdle, autosomal dominant 4","equivalent_identifiers":["MONDO:0029133","OMIM:618129","orphanet:565909","UMLS:C4748295","SNOMEDCT:1279886003","medgen:1648316"],"information_content":100.0}
{"id":"MONDO:0029134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency due to CARMIL2 deficiency","equivalent_identifiers":["MONDO:0029134","DOID:0111984","OMIM:618131","orphanet:542301","UMLS:C4748304","medgen:1648422"],"information_content":100.0}
{"id":"MONDO:0029135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8","equivalent_identifiers":["MONDO:0029135","DOID:0112382","OMIM:618135","UMLS:C4748320","medgen:1648468"],"information_content":100.0}
{"id":"MONDO:0029136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, limb-girdle, autosomal recessive 23","equivalent_identifiers":["MONDO:0029136","DOID:0061132","OMIM:618138","orphanet:565837","UMLS:C4748327","medgen:1648462"],"information_content":100.0}
{"id":"MONDO:0029137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal dominant 74","equivalent_identifiers":["MONDO:0029137","DOID:0112165","OMIM:618140","UMLS:C4748334","medgen:1648467"],"information_content":100.0}
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{"id":"MONDO:0029140","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycosylphosphatidylinositol biosynthesis defect 18","equivalent_identifiers":["MONDO:0029140","DOID:0070382","OMIM:618143","UMLS:C4748357","medgen:1648478"],"information_content":100.0}
{"id":"MONDO:0029141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome, type 4","equivalent_identifiers":["MONDO:0029141","OMIM:618144","UMLS:C4748364","medgen:1648315"],"information_content":100.0}
{"id":"MONDO:0029142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal recessive 111","equivalent_identifiers":["MONDO:0029142","DOID:0111640","OMIM:618145","UMLS:C4748374","medgen:1648423"],"information_content":100.0}
{"id":"MONDO:0029143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder with hypertelorism and distinctive facies","equivalent_identifiers":["MONDO:0029143","OMIM:618147","UMLS:C4748381","UMLS:C4749153","medgen:1648403"],"information_content":100.0}
{"id":"MONDO:0029144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extraoral halitosis due to methanethiol oxidase deficiency","equivalent_identifiers":["MONDO:0029144","OMIM:618148","UMLS:C4748387","SNOMEDCT:1269235004","medgen:1648340"],"information_content":100.0}
{"id":"MONDO:0029145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 8","equivalent_identifiers":["MONDO:0029145","DOID:0080401","OMIM:618149","UMLS:C1851878","MESH:C565070","medgen:377541"],"information_content":100.0}
{"id":"MONDO:0029147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 33","equivalent_identifiers":["MONDO:0029147","DOID:0111915","OMIM:618152","UMLS:C4748395","medgen:1648473"],"information_content":100.0}
{"id":"MONDO:0029148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 34","equivalent_identifiers":["MONDO:0029148","DOID:0111911","OMIM:618153","UMLS:C4748403","medgen:1648297"],"information_content":100.0}
{"id":"MONDO:0029465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal dominant 69","equivalent_identifiers":["MONDO:0029465","DOID:0061042","OMIM:617863","UMLS:C5676896","medgen:1808299"],"information_content":100.0}
{"id":"MONDO:0030004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autism, susceptibility to, 20","equivalent_identifiers":["MONDO:0030004","OMIM:618830","UMLS:C5394226","medgen:1717195"],"information_content":100.0}
{"id":"MONDO:0030005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, early-onset, with or without developmental delay","equivalent_identifiers":["MONDO:0030005","DOID:0070471","OMIM:618832","EFO:0010739","UMLS:C5882670","medgen:1845576"],"information_content":100.0}
{"id":"MONDO:0030006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 40","equivalent_identifiers":["MONDO:0030006","DOID:0112117","OMIM:618835","orphanet:570491","UMLS:C5394232","SNOMEDCT:1197430005","medgen:1714731"],"information_content":100.0}
{"id":"MONDO:0030007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 41","equivalent_identifiers":["MONDO:0030007","DOID:0112119","OMIM:618838","UMLS:C5394236","medgen:1711853"],"information_content":100.0}
{"id":"MONDO:0030008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 42","equivalent_identifiers":["MONDO:0030008","DOID:0112118","OMIM:618839","UMLS:C5394237","medgen:1709379"],"information_content":100.0}
{"id":"MONDO:0030009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alopecia-intellectual disability syndrome 4","equivalent_identifiers":["MONDO:0030009","DOID:0080950","OMIM:618840","UMLS:C5394241","medgen:1713432"],"information_content":100.0}
{"id":"MONDO:0030010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypogonadotropic hypogonadism 25 with anosmia","equivalent_identifiers":["MONDO:0030010","OMIM:618841","UMLS:C5394246","medgen:1717461"],"information_content":100.0}
{"id":"MONDO:0030012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diets-Jongmans syndrome","equivalent_identifiers":["MONDO:0030012","OMIM:618846","EFO:0010740","UMLS:C5394263","SNOMEDCT:1351843001","medgen:1714920"],"information_content":100.0}
{"id":"MONDO:0030013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 66","equivalent_identifiers":["MONDO:0030013","DOID:0111998","OMIM:618847","UMLS:C5394265","NCIT:C203465","medgen:1717128"],"information_content":92.8}
{"id":"MONDO:0030014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscular dystrophy, limb-girdle, autosomal recessive 26","equivalent_identifiers":["MONDO:0030014","DOID:0061131","OMIM:618848","UMLS:C5394268","medgen:1718449"],"information_content":100.0}
{"id":"MONDO:0030015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone marrow failure syndrome 6","equivalent_identifiers":["MONDO:0030015","OMIM:618849","UMLS:C5394274","medgen:1717739"],"information_content":100.0}
{"id":"MONDO:0030017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 43","equivalent_identifiers":["MONDO:0030017","DOID:0112116","OMIM:618851","UMLS:C5394284","medgen:1718250"],"information_content":100.0}
{"id":"MONDO:0030018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CRIA syndrome","equivalent_identifiers":["MONDO:0030018","OMIM:618852","EFO:0010737","UMLS:C5394286","MEDDRA:10086727","MEDDRA:10086729","medgen:1719052"],"information_content":100.0}
{"id":"MONDO:0030019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anauxetic dysplasia 3","equivalent_identifiers":["MONDO:0030019","DOID:0080963","OMIM:618853","UMLS:C5394289","medgen:1718444"],"information_content":100.0}
{"id":"MONDO:0030020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 44","equivalent_identifiers":["MONDO:0030020","DOID:0070424","OMIM:618855","UMLS:C5394293","medgen:1718899"],"information_content":100.0}
{"id":"MONDO:0030024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities","equivalent_identifiers":["MONDO:0030024","OMIM:618859","UMLS:C5394311","medgen:1714862"],"information_content":100.0}
{"id":"MONDO:0030025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with hypotonia, microcephaly, and seizures","equivalent_identifiers":["MONDO:0030025","OMIM:618862","UMLS:C5394312","medgen:1710110"],"information_content":100.0}
{"id":"MONDO:0030026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal dystrophy with leukodystrophy","equivalent_identifiers":["MONDO:0030026","DOID:0080946","OMIM:618863","EFO:0010738","UMLS:C5394315","medgen:1715138"],"information_content":100.0}
{"id":"MONDO:0030027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tremor, hereditary essential, 6","equivalent_identifiers":["MONDO:0030027","DOID:0081295","OMIM:618866","UMLS:C5394329","medgen:1711112"],"information_content":100.0}
{"id":"MONDO:0030028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline","equivalent_identifiers":["MONDO:0030028","OMIM:618868","UMLS:C5394335","medgen:1715031"],"information_content":100.0}
{"id":"MONDO:0030029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal dysplasia, mild, with joint laxity and advanced bone age","equivalent_identifiers":["MONDO:0030029","OMIM:618870","UMLS:C5394341","medgen:1711043"],"information_content":100.0}
{"id":"MONDO:0030030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nizon-Isidor syndrome","equivalent_identifiers":["MONDO:0030030","OMIM:618872","UMLS:C5394350","medgen:1715748"],"information_content":100.0}
{"id":"MONDO:0030031","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly 10","equivalent_identifiers":["MONDO:0030031","DOID:0112229","OMIM:618873","UMLS:C5394354","medgen:1719546"],"information_content":100.0}
{"id":"MONDO:0030033","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seizures, early-onset, with neurodegeneration and brain calcifications","equivalent_identifiers":["MONDO:0030033","OMIM:618875","UMLS:C5394359","medgen:1713658"],"information_content":100.0}
{"id":"MONDO:0030034","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, progressive myoclonic, 11","equivalent_identifiers":["MONDO:0030034","OMIM:618876","UMLS:C5394362","medgen:1716712"],"information_content":100.0}
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{"id":"MONDO:0030037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures","equivalent_identifiers":["MONDO:0030037","OMIM:618879","UMLS:C5394372","medgen:1710849"],"information_content":100.0}
{"id":"MONDO:0030038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary glaucoma, primary closed-angle","equivalent_identifiers":["MONDO:0030038","OMIM:618880","UMLS:C5394374","medgen:1712967"],"information_content":100.0}
{"id":"MONDO:0030042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proteinuria, chronic benign","equivalent_identifiers":["MONDO:0030042","OMIM:618884","UMLS:C5394384","medgen:1714078"],"information_content":100.0}
{"id":"MONDO:0030043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type iit","equivalent_identifiers":["MONDO:0030043","DOID:0051049","OMIM:618885","UMLS:C5394387","medgen:1709627"],"information_content":100.0}
{"id":"MONDO:0030044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudo-TORCH syndrome 3","equivalent_identifiers":["MONDO:0030044","OMIM:618886","UMLS:C5394391","medgen:1708513"],"information_content":100.0}
{"id":"MONDO:0030045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Liberfarb syndrome","equivalent_identifiers":["MONDO:0030045","OMIM:618889","orphanet:589442","UMLS:C5394404","SNOMEDCT:1284851009","medgen:1709796"],"information_content":100.0}
{"id":"MONDO:0030046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity","equivalent_identifiers":["MONDO:0030046","OMIM:618890","UMLS:C5394423","medgen:1711516"],"information_content":100.0}
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{"id":"MONDO:0030048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"harderoporphyria","equivalent_identifiers":["MONDO:0030048","OMIM:618892","orphanet:659672","UMLS:C0342859","MESH:C562816","SNOMEDCT:238056003","medgen:137981","icd11.foundation:1664486132"],"information_content":100.0}
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{"id":"MONDO:0030055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal recessive 8","equivalent_identifiers":["MONDO:0030055","DOID:0081427","OMIM:618912","UMLS:C5394466","medgen:1714781"],"information_content":100.0}
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{"id":"MONDO:0030060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with language impairment and behavioral abnormalities","equivalent_identifiers":["MONDO:0030060","OMIM:618917","UMLS:C5394502","medgen:1708389"],"information_content":100.0}
{"id":"MONDO:0030061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periventricular nodular heterotopia 9","equivalent_identifiers":["MONDO:0030061","OMIM:618918","UMLS:C5394503","medgen:1718470"],"information_content":100.0}
{"id":"MONDO:0030062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular dysplasia, familial, 14","equivalent_identifiers":["MONDO:0030062","DOID:0080959","OMIM:618920","UMLS:C5394505","medgen:1712001"],"information_content":100.0}
{"id":"MONDO:0030063","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities","equivalent_identifiers":["MONDO:0030063","OMIM:618922","UMLS:C5394517","medgen:1708579"],"information_content":100.0}
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{"id":"MONDO:0030065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agenesis of corpus callosum, cardiac, ocular, and genital syndrome","equivalent_identifiers":["MONDO:0030065","DOID:0080948","OMIM:618929","UMLS:C5394523","medgen:1718475"],"information_content":100.0}
{"id":"MONDO:0030066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous disease, chronic, autosomal recessive, 5","equivalent_identifiers":["MONDO:0030066","DOID:0070368","OMIM:618935","UMLS:C5394542","medgen:1710326"],"information_content":100.0}
{"id":"MONDO:0030067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Treacher Collins syndrome 4","equivalent_identifiers":["MONDO:0030067","DOID:0080792","OMIM:618939","UMLS:C5394546","medgen:1712280"],"information_content":100.0}
{"id":"MONDO:0030069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgE recurrent infection syndrome 5, autosomal recessive","equivalent_identifiers":["MONDO:0030069","OMIM:618944","UMLS:C5394550","medgen:1716052"],"information_content":100.0}
{"id":"MONDO:0030070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heterotaxy, visceral, 9, autosomal, with male infertility","equivalent_identifiers":["MONDO:0030070","DOID:0051023","OMIM:618948","UMLS:C5394551","medgen:1717772"],"information_content":100.0}
{"id":"MONDO:0030071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 89","equivalent_identifiers":["MONDO:0030071","DOID:0112146","OMIM:618955","UMLS:C5394552","medgen:1710499"],"information_content":100.0}
{"id":"MONDO:0030072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 88","equivalent_identifiers":["MONDO:0030072","DOID:0112222","OMIM:618959","UMLS:C5394553","medgen:1712195"],"information_content":100.0}
{"id":"MONDO:0030073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mitchell syndrome","equivalent_identifiers":["MONDO:0030073","DOID:0070516","OMIM:618960","orphanet:631248","UMLS:C5394554","SNOMEDCT:1300194008","medgen:1714342"],"information_content":100.0}
{"id":"MONDO:0030074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia with corneal dystrophy","equivalent_identifiers":["MONDO:0030074","DOID:0112303","OMIM:618961","orphanet:589435","UMLS:C5394555","SNOMEDCT:1269226006","medgen:1714019"],"information_content":100.0}
{"id":"MONDO:0030077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vertebral, cardiac, renal, and limb defects syndrome 3","equivalent_identifiers":["MONDO:0030077","OMIM:618845","UMLS:C5394250","medgen:1709064"],"information_content":100.0}
{"id":"MONDO:0030087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus, permanent neonatal 2","equivalent_identifiers":["MONDO:0030087","OMIM:618856","UMLS:C5394296","medgen:1713823"],"information_content":100.0}
{"id":"MONDO:0030088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus, permanent neonatal 3","equivalent_identifiers":["MONDO:0030088","OMIM:618857","UMLS:C5394303","medgen:1717271"],"information_content":100.0}
{"id":"MONDO:0030089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus, permanent neonatal 4","equivalent_identifiers":["MONDO:0030089","OMIM:618858","UMLS:C5394307","medgen:1711191"],"information_content":100.0}
{"id":"MONDO:0030105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"galactosemia 4","equivalent_identifiers":["MONDO:0030105","DOID:0060969","OMIM:618881","orphanet:570422","UMLS:C5394377","SNOMEDCT:1187616008","medgen:1718159"],"information_content":100.0}
{"id":"MONDO:0030116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silver-russell syndrome 2","equivalent_identifiers":["MONDO:0030116","OMIM:618905","UMLS:C5394446","UMLS:C5400127","SNOMEDCT:1003395004","medgen:1714148"],"information_content":100.0}
{"id":"MONDO:0030118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silver-russell syndrome 4","equivalent_identifiers":["MONDO:0030118","OMIM:618907","UMLS:C5394450","medgen:1712866"],"information_content":100.0}
{"id":"MONDO:0030134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculopharyngodistal myopathy 2","equivalent_identifiers":["MONDO:0030134","DOID:0081298","OMIM:618940","UMLS:C5394548","NCIT:C190873","medgen:1718769"],"information_content":100.0}
{"id":"MONDO:0030258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia, type 14","equivalent_identifiers":["MONDO:0030258","DOID:0112325","OMIM:619301","orphanet:613274","UMLS:C5543322","medgen:1778516"],"information_content":100.0}
{"id":"MONDO:0030259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia, type 15","equivalent_identifiers":["MONDO:0030259","DOID:0112326","OMIM:619302","UMLS:C5543326","medgen:1781311"],"information_content":100.0}
{"id":"MONDO:0030260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia, type 1E","equivalent_identifiers":["MONDO:0030260","DOID:0112330","OMIM:619303","UMLS:C5543328","medgen:1788285"],"information_content":100.0}
{"id":"MONDO:0030261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia, type 1F","equivalent_identifiers":["MONDO:0030261","DOID:0112331","OMIM:619304","UMLS:C5543331","medgen:1785905"],"information_content":100.0}
{"id":"MONDO:0030263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukodystrophy, hypomyelinating, 21","equivalent_identifiers":["MONDO:0030263","DOID:0070407","OMIM:619310","UMLS:C5543334","medgen:1778269"],"information_content":100.0}
{"id":"MONDO:0030266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 80 with or without congenital cardiomyopathy","equivalent_identifiers":["MONDO:0030266","DOID:0061051","OMIM:619313","UMLS:C5543344","medgen:1786417"],"information_content":100.0}
{"id":"MONDO:0030268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy 6B","equivalent_identifiers":["MONDO:0030268","DOID:0070379","OMIM:619317","UMLS:C5543353","medgen:1779648"],"information_content":100.0}
{"id":"MONDO:0030270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 9","equivalent_identifiers":["MONDO:0030270","OMIM:619319","UMLS:C5543365","medgen:1779656"],"information_content":100.0}
{"id":"MONDO:0030281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis multiplex congenita 6","equivalent_identifiers":["MONDO:0030281","DOID:0070336","OMIM:619334","UMLS:C5543431","medgen:1786758"],"information_content":100.0}
{"id":"MONDO:0030293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioedema, hereditary, 5","equivalent_identifiers":["MONDO:0030293","OMIM:619361","UMLS:C5543508","medgen:1780904"],"information_content":100.0}
{"id":"MONDO:0030294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megacystis-microcolon-intestinal hypoperistalsis syndrome 3","equivalent_identifiers":["MONDO:0030294","OMIM:619362","UMLS:C5543513","medgen:1780019"],"information_content":100.0}
{"id":"MONDO:0030296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megacystis-microcolon-intestinal hypoperistalsis syndrome 4","equivalent_identifiers":["MONDO:0030296","OMIM:619365","UMLS:C5543519","medgen:1783600"],"information_content":100.0}
{"id":"MONDO:0030298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioedema, hereditary, 8","equivalent_identifiers":["MONDO:0030298","OMIM:619367","UMLS:C5543528","medgen:1780930"],"information_content":100.0}
{"id":"MONDO:0030300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, dilated, 2D","equivalent_identifiers":["MONDO:0030300","DOID:0081160","OMIM:619371","UMLS:C5543535","medgen:1782612"],"information_content":100.0}
{"id":"MONDO:0030302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 81","equivalent_identifiers":["MONDO:0030302","DOID:0061052","OMIM:619374","UMLS:C5543540","medgen:1788669"],"information_content":100.0}
{"id":"MONDO:0030307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 55","equivalent_identifiers":["MONDO:0030307","DOID:0112337","OMIM:619380","UMLS:C5543580","medgen:1781781"],"information_content":100.0}
{"id":"MONDO:0030308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 82 with systemic inflammation","equivalent_identifiers":["MONDO:0030308","DOID:0061053","OMIM:619381","UMLS:C5543581","medgen:1781752"],"information_content":100.0}
{"id":"MONDO:0030311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 52","equivalent_identifiers":["MONDO:0030311","DOID:0070425","OMIM:619386","UMLS:C5543592","medgen:1780479"],"information_content":100.0}
{"id":"MONDO:0030312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 29","equivalent_identifiers":["MONDO:0030312","DOID:0070410","OMIM:619389","UMLS:C5543595","medgen:1788435"],"information_content":100.0}
{"id":"MONDO:0030313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10","equivalent_identifiers":["MONDO:0030313","OMIM:619396","UMLS:C5543600","medgen:1782836"],"information_content":100.0}
{"id":"MONDO:0030314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive","equivalent_identifiers":["MONDO:0030314","OMIM:619398","UMLS:C5444224","medgen:1783277"],"information_content":100.0}
{"id":"MONDO:0030316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 11","equivalent_identifiers":["MONDO:0030316","OMIM:619401","UMLS:C5543614","medgen:1784862"],"information_content":100.0}
{"id":"MONDO:0030317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, familial hypertrophic, 28","equivalent_identifiers":["MONDO:0030317","OMIM:619402","UMLS:C5543616","medgen:1779612"],"information_content":100.0}
{"id":"MONDO:0030318","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 30","equivalent_identifiers":["MONDO:0030318","DOID:0070411","OMIM:619405","UMLS:C5543620","medgen:1778853"],"information_content":100.0}
{"id":"MONDO:0030323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 31","equivalent_identifiers":["MONDO:0030323","DOID:0070412","OMIM:619422","UMLS:C5543627","medgen:1786855"],"information_content":100.0}
{"id":"MONDO:0030326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial dna depletion syndrome 16B (neuroophthalmic type)","equivalent_identifiers":["MONDO:0030326","DOID:0070447","OMIM:619425","UMLS:C5543632","medgen:1780329"],"information_content":100.0}
{"id":"MONDO:0030329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megacystis-microcolon-intestinal hypoperistalsis syndrome 5","equivalent_identifiers":["MONDO:0030329","OMIM:619431","EFO:0020038","UMLS:C5543636","medgen:1782906"],"information_content":100.0}
{"id":"MONDO:0030330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, familial restrictive, 6","equivalent_identifiers":["MONDO:0030330","DOID:0061025","OMIM:619433","UMLS:C5543638","medgen:1780781"],"information_content":100.0}
{"id":"MONDO:0030331","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ritscher-Schinzel syndrome 4","equivalent_identifiers":["MONDO:0030331","OMIM:619435","UMLS:C5561939","medgen:1794149"],"information_content":100.0}
{"id":"MONDO:0030332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary dyskinesia, primary, 46","equivalent_identifiers":["MONDO:0030332","OMIM:619436","UMLS:C5543646","medgen:1780196"],"information_content":100.0}
{"id":"MONDO:0030333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 84","equivalent_identifiers":["MONDO:0030333","DOID:0061054","OMIM:619437","UMLS:C5561940","medgen:1794150"],"information_content":100.0}
{"id":"MONDO:0030334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalitis, acute, infection (viral)-induced, susceptibility to, 11","equivalent_identifiers":["MONDO:0030334","OMIM:619441","UMLS:C5561941","medgen:1794151"],"information_content":100.0}
{"id":"MONDO:0030335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diarrhea 12, with microvillus atrophy","equivalent_identifiers":["MONDO:0030335","OMIM:619445","UMLS:C5561942","medgen:1794152"],"information_content":100.0}
{"id":"MONDO:0030337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutis laxa, autosomal recessive, type 2E","equivalent_identifiers":["MONDO:0030337","OMIM:619451","UMLS:C5561944","medgen:1794154"],"information_content":100.0}
{"id":"MONDO:0030338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anencephaly 2","equivalent_identifiers":["MONDO:0030338","OMIM:619452","UMLS:C5561945","medgen:1794155"],"information_content":100.0}
{"id":"MONDO:0030339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 28, primary, autosomal recessive","equivalent_identifiers":["MONDO:0030339","DOID:0051039","OMIM:619453","UMLS:C5562069","medgen:1794279"],"information_content":100.0}
{"id":"MONDO:0030341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive","equivalent_identifiers":["MONDO:0030341","OMIM:619461","UMLS:C5561947","medgen:1794157"],"information_content":100.0}
{"id":"MONDO:0030346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary dyskinesia, primary, 47, and lissencephaly","equivalent_identifiers":["MONDO:0030346","OMIM:619466","UMLS:C5561951","medgen:1794161"],"information_content":100.0}
{"id":"MONDO:0030353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 38","equivalent_identifiers":["MONDO:0030353","OMIM:619476","UMLS:C5561958","medgen:1794168"],"information_content":100.0}
{"id":"MONDO:0030354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facioscapulohumeral muscular dystrophy 3, digenic","equivalent_identifiers":["MONDO:0030354","DOID:0060917","OMIM:619477","UMLS:C5561959","medgen:1794169"],"information_content":100.0}
{"id":"MONDO:0030355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facioscapulohumeral muscular dystrophy 4, digenic","equivalent_identifiers":["MONDO:0030355","DOID:0060918","OMIM:619478","UMLS:C5561960","medgen:1794170"],"information_content":100.0}
{"id":"MONDO:0030356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 21 without polydactyly","equivalent_identifiers":["MONDO:0030356","OMIM:619479","UMLS:C5561961","medgen:1794171"],"information_content":100.0}
{"id":"MONDO:0030360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholestasis, progressive familial intrahepatic, 6","equivalent_identifiers":["MONDO:0030360","OMIM:619484","UMLS:C5561965","medgen:1794175"],"information_content":100.0}
{"id":"MONDO:0030361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi-Goutieres syndrome 8","equivalent_identifiers":["MONDO:0030361","OMIM:619486","UMLS:C5551352","medgen:1790409"],"information_content":100.0}
{"id":"MONDO:0030362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Aicardi-Goutieres syndrome 9","equivalent_identifiers":["MONDO:0030362","OMIM:619487","UMLS:C5561966","medgen:1794176"],"information_content":100.0}
{"id":"MONDO:0030366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, dilated, 2E","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0030366","DOID:0081161","OMIM:619492","UMLS:C5561970","medgen:1794180"],"information_content":100.0}
{"id":"MONDO:0030374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"WHIM syndrome 2","equivalent_identifiers":["MONDO:0030374","DOID:0060973","OMIM:619407","UMLS:C5543622","medgen:1785594"],"information_content":100.0}
{"id":"MONDO:0030375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2","equivalent_identifiers":["MONDO:0030375","OMIM:619418","UMLS:C5543623","medgen:1778117"],"information_content":100.0}
{"id":"MONDO:0030376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Martsolf syndrome 2","equivalent_identifiers":["MONDO:0030376","OMIM:619420","UMLS:C5543626","medgen:1779703"],"information_content":100.0}
{"id":"MONDO:0030378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 53","equivalent_identifiers":["MONDO:0030378","DOID:0070426","OMIM:619423","UMLS:C5543631","medgen:1779083"],"information_content":100.0}
{"id":"MONDO:0030397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"portal hypertension, noncirrhotic, 2","equivalent_identifiers":["MONDO:0030397","OMIM:619463","UMLS:C5561948","medgen:1794158"],"information_content":100.0}
{"id":"MONDO:0030399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"visceral neuropathy, familial, 2, autosomal recessive","equivalent_identifiers":["MONDO:0030399","OMIM:619465","UMLS:C5561950","medgen:1794160"],"information_content":100.0}
{"id":"MONDO:0030423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type 2v","equivalent_identifiers":["MONDO:0030423","DOID:0051050","OMIM:619493","UMLS:C5561971","medgen:1794181"],"information_content":100.0}
{"id":"MONDO:0030428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 85 and autoimmunity","equivalent_identifiers":["MONDO:0030428","DOID:0061055","OMIM:619510","UMLS:C5561976","medgen:1794186"],"information_content":100.0}
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{"id":"MONDO:0030855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2","equivalent_identifiers":["MONDO:0030855","OMIM:619120","UMLS:C5436847","medgen:1751229"],"information_content":100.0}
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{"id":"MONDO:0030858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 75","equivalent_identifiers":["MONDO:0030858","OMIM:619126","orphanet:664729","UMLS:C5436860","medgen:1741014"],"information_content":100.0}
{"id":"MONDO:0030859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COACH syndrome 2","equivalent_identifiers":["MONDO:0030859","OMIM:619111","UMLS:C5436837","medgen:1752166"],"information_content":100.0}
{"id":"MONDO:0030860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 5C","equivalent_identifiers":["MONDO:0030860","DOID:0081401","OMIM:619112","UMLS:C5436838","medgen:1760720"],"information_content":100.0}
{"id":"MONDO:0030861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta, type 21","equivalent_identifiers":["MONDO:0030861","DOID:0112201","OMIM:619131","UMLS:C5436875","medgen:1723598"],"information_content":100.0}
{"id":"MONDO:0030862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COACH syndrome 3","equivalent_identifiers":["MONDO:0030862","OMIM:619113","UMLS:C5436841","medgen:1755565"],"information_content":100.0}
{"id":"MONDO:0030864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ritscher-Schinzel syndrome 3","equivalent_identifiers":["MONDO:0030864","OMIM:619135","UMLS:C5436883","medgen:1744611"],"information_content":100.0}
{"id":"MONDO:0030866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities","equivalent_identifiers":["MONDO:0030866","DOID:0070543","OMIM:619121","UMLS:C5436848","medgen:1750805"],"information_content":100.0}
{"id":"MONDO:0030867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 7","equivalent_identifiers":["MONDO:0030867","OMIM:619130","UMLS:C5436874","medgen:1768257"],"information_content":100.0}
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{"id":"MONDO:0030870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 17","equivalent_identifiers":["MONDO:0030870","DOID:0080874","OMIM:619146","UMLS:C5436889","medgen:1748767"],"information_content":100.0}
{"id":"MONDO:0030871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vertebral hypersegmentation and orofacial anomalies","equivalent_identifiers":["MONDO:0030871","DOID:0070418","OMIM:619122","UMLS:C5436851","medgen:1746640"],"information_content":100.0}
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{"id":"MONDO:0030875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontotemporal dementia and/or amyotrophic lateral sclerosis 5","equivalent_identifiers":["MONDO:0030875","OMIM:619141","UMLS:C5436884","medgen:1756201"],"information_content":100.0}
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{"id":"MONDO:0030877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardioacrofacial dysplasia 2","equivalent_identifiers":["MONDO:0030877","OMIM:619143","UMLS:C5436886","medgen:1731253"],"information_content":100.0}
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{"id":"MONDO:0030880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mandibuloacral dysplasia progeroid syndrome","equivalent_identifiers":["MONDO:0030880","OMIM:619127","orphanet:647667","UMLS:C5436867","medgen:1741713"],"information_content":100.0}
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{"id":"MONDO:0030883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carpal tunnel syndrome 2","equivalent_identifiers":["MONDO:0030883","DOID:0070467","OMIM:619161","UMLS:C5436916","medgen:1725962"],"information_content":100.0}
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{"id":"MONDO:0030890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia, IIA 17","equivalent_identifiers":["MONDO:0030890","OMIM:619909","UMLS:C5676999","medgen:1809583"],"information_content":100.0}
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{"id":"MONDO:0030894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AMED syndrome","equivalent_identifiers":["MONDO:0030894","DOID:0080952","OMIM:619151","orphanet:611216","UMLS:C5436906","NCIT:C185246","SNOMEDCT:1332385000","medgen:1754257"],"information_content":100.0}
{"id":"MONDO:0030895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 22","equivalent_identifiers":["MONDO:0030895","DOID:0112268","OMIM:619155","UMLS:C5436909","medgen:1745920"],"information_content":100.0}
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{"id":"MONDO:0030902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 1 deficiency, nuclear type 36","equivalent_identifiers":["MONDO:0030902","OMIM:619170","UMLS:C5436935","medgen:1773965"],"information_content":100.0}
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{"id":"MONDO:0030924","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proteasome-associated autoinflammatory syndrome 5","equivalent_identifiers":["MONDO:0030924","DOID:0060919","OMIM:619175","UMLS:C5543027","medgen:1779962"],"information_content":100.0}
{"id":"MONDO:0030925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oocyte maturation defect 10","equivalent_identifiers":["MONDO:0030925","OMIM:619176","UMLS:C5436938","medgen:1766720"],"information_content":100.0}
{"id":"MONDO:0030926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 51","equivalent_identifiers":["MONDO:0030926","DOID:0112273","OMIM:619177","UMLS:C5543033","medgen:1780365"],"information_content":100.0}
{"id":"MONDO:0030927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibrillar myopathy 11","equivalent_identifiers":["MONDO:0030927","DOID:0081338","OMIM:619178","UMLS:C5543038","medgen:1782465"],"information_content":100.0}
{"id":"MONDO:0030928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 26, primary, autosomal dominant","equivalent_identifiers":["MONDO:0030928","OMIM:619179","UMLS:C5543048","medgen:1779629"],"information_content":100.0}
{"id":"MONDO:0030929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 27, primary, autosomal dominant","equivalent_identifiers":["MONDO:0030929","OMIM:619180","UMLS:C5543051","medgen:1783457"],"information_content":100.0}
{"id":"MONDO:0030930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with or without early-onset generalized epilepsy","equivalent_identifiers":["MONDO:0030930","OMIM:619157","UMLS:C5436914","medgen:1737097"],"information_content":100.0}
{"id":"MONDO:0030931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proteasome-associated autoinflammatory syndrome 4","equivalent_identifiers":["MONDO:0030931","DOID:0060915","OMIM:619183","UMLS:C5543053","medgen:1780127"],"information_content":100.0}
{"id":"MONDO:0030933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 37","equivalent_identifiers":["MONDO:0030933","OMIM:619185","UMLS:C5543064","medgen:1786742"],"information_content":100.0}
{"id":"MONDO:0030934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal dominant 64","equivalent_identifiers":["MONDO:0030934","DOID:0061037","OMIM:619188","UMLS:C5543067","medgen:1784554"],"information_content":100.0}
{"id":"MONDO:0030935","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 2 deficiency, nuclear type 2","equivalent_identifiers":["MONDO:0030935","OMIM:619166","UMLS:C5436933","medgen:1742371"],"information_content":100.0}
{"id":"MONDO:0030936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, progressive myoclonic, 12","equivalent_identifiers":["MONDO:0030936","OMIM:619191","UMLS:C5543069","medgen:1778162"],"information_content":100.0}
{"id":"MONDO:0030937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 2 deficiency, nuclear type 3","equivalent_identifiers":["MONDO:0030937","OMIM:619167","UMLS:C5436934","medgen:1751884"],"information_content":100.0}
{"id":"MONDO:0030938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 52","equivalent_identifiers":["MONDO:0030938","DOID:0112270","OMIM:619202","UMLS:C5543094","medgen:1785685"],"information_content":100.0}
{"id":"MONDO:0030939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 18","equivalent_identifiers":["MONDO:0030939","DOID:0112269","OMIM:619203","UMLS:C5543095","medgen:1785989"],"information_content":100.0}
{"id":"MONDO:0030941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrokeratodermia variabilis et progressiva 7","equivalent_identifiers":["MONDO:0030941","OMIM:619209","UMLS:C5543106","medgen:1780408"],"information_content":100.0}
{"id":"MONDO:0030947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities","equivalent_identifiers":["MONDO:0030947","OMIM:619173","orphanet:610573","UMLS:C5543020","medgen:1781967"],"information_content":100.0}
{"id":"MONDO:0030953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2","equivalent_identifiers":["MONDO:0030953","DOID:0112358","OMIM:619184","UMLS:C5543057","medgen:1782253"],"information_content":100.0}
{"id":"MONDO:0030957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy 103","equivalent_identifiers":["MONDO:0030957","DOID:0070389","OMIM:619913","UMLS:C5677002","medgen:1809962"],"information_content":100.0}
{"id":"MONDO:0030958","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 35, childhood-onset","equivalent_identifiers":["MONDO:0030958","DOID:0060955","OMIM:619921","UMLS:C5677003","medgen:1801185"],"information_content":100.0}
{"id":"MONDO:0030961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Olmsted syndrome 2","equivalent_identifiers":["MONDO:0030961","OMIM:619208","UMLS:C5543096","medgen:1779902"],"information_content":100.0}
{"id":"MONDO:0030962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 23","equivalent_identifiers":["MONDO:0030962","DOID:0112266","OMIM:619201","UMLS:C5543092","medgen:1787011"],"information_content":100.0}
{"id":"MONDO:0030963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Li-Campeau syndrome","equivalent_identifiers":["MONDO:0030963","OMIM:619189","UMLS:C5543068","NCIT:C201589","medgen:1788485"],"information_content":100.0}
{"id":"MONDO:0030964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal dominant 67","equivalent_identifiers":["MONDO:0030964","DOID:0061040","OMIM:619927","UMLS:C5677006","medgen:1805690"],"information_content":100.0}
{"id":"MONDO:0030966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurofacioskeletal syndrome with or without renal agenesis","equivalent_identifiers":["MONDO:0030966","OMIM:619194","UMLS:C5543070","medgen:1778926"],"information_content":100.0}
{"id":"MONDO:0030967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, congenital, and adult-onset progressive leukoencephalopathy","equivalent_identifiers":["MONDO:0030967","OMIM:619196","UMLS:C5543087","medgen:1784506"],"information_content":100.0}
{"id":"MONDO:0030968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal recessive 76","equivalent_identifiers":["MONDO:0030968","DOID:0081235","OMIM:619931","UMLS:C5677007","medgen:1808571"],"information_content":100.0}
{"id":"MONDO:0030969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal dominant 68","equivalent_identifiers":["MONDO:0030969","DOID:0061041","OMIM:619934","UMLS:C5677008","medgen:1802176"],"information_content":100.0}
{"id":"MONDO:0030970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 106, susceptibility to viral infections","equivalent_identifiers":["MONDO:0030970","DOID:0061075","OMIM:619935","UMLS:C5677009","medgen:1804672"],"information_content":100.0}
{"id":"MONDO:0030971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 78 with autoimmunity and developmental delay","equivalent_identifiers":["MONDO:0030971","OMIM:619220","UMLS:C5543159","SNOMEDCT:1222681008","medgen:1785772"],"information_content":100.0}
{"id":"MONDO:0030972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 74","equivalent_identifiers":["MONDO:0030972","DOID:0070573","OMIM:619937","UMLS:C5677010","medgen:1812069"],"information_content":100.0}
{"id":"MONDO:0030973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 77","equivalent_identifiers":["MONDO:0030973","OMIM:619223","UMLS:C5543173","medgen:1788976"],"information_content":100.0}
{"id":"MONDO:0030974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 2 deficiency, nuclear type 4","equivalent_identifiers":["MONDO:0030974","OMIM:619224","UMLS:C5543176","medgen:1782861"],"information_content":100.0}
{"id":"MONDO:0030975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 20","equivalent_identifiers":["MONDO:0030975","OMIM:619938","UMLS:C5677011","medgen:1808256"],"information_content":100.0}
{"id":"MONDO:0030976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculomotor-abducens synkinesis","equivalent_identifiers":["MONDO:0030976","OMIM:619215","UMLS:C5543116","medgen:1789067"],"information_content":100.0}
{"id":"MONDO:0030977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal recessive 7","equivalent_identifiers":["MONDO:0030977","DOID:0081426","OMIM:619216","UMLS:C5543119","medgen:1786836"],"information_content":100.0}
{"id":"MONDO:0030978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ENDOVE syndrome, limb-only type","equivalent_identifiers":["MONDO:0030978","OMIM:619217","UMLS:C5543128","medgen:1787128"],"information_content":100.0}
{"id":"MONDO:0030979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ENDOVE syndrome, limb-brain type","equivalent_identifiers":["MONDO:0030979","OMIM:619218","UMLS:C5543142","medgen:1782954"],"information_content":100.0}
{"id":"MONDO:0030981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 79","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0030981","DOID:0112277","OMIM:619238","UMLS:C5543220","medgen:1783683"],"information_content":100.0}
{"id":"MONDO:0030982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sulfide quinone oxidoreductase deficiency","equivalent_identifiers":["MONDO:0030982","OMIM:619221","UMLS:C5543168","medgen:1780603"],"information_content":100.0}
{"id":"MONDO:0030983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome, IIa 2F","equivalent_identifiers":["MONDO:0030983","OMIM:619947","UMLS:C5677013","medgen:1809587"],"information_content":100.0}
{"id":"MONDO:0030984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 75","equivalent_identifiers":["MONDO:0030984","DOID:0070574","OMIM:619949","UMLS:C5677014","medgen:1804291"],"information_content":100.0}
{"id":"MONDO:0030985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 19","equivalent_identifiers":["MONDO:0030985","DOID:0112278","OMIM:619245","UMLS:C5543229","medgen:1779702"],"information_content":100.0}
{"id":"MONDO:0030986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blistering, acantholytic, of oral and laryngeal mucosa","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0030986","OMIM:619226","UMLS:C5543184","medgen:1785588"],"information_content":100.0}
{"id":"MONDO:0030987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vertebral, cardiac, tracheoesophageal, renal, and limb defects","equivalent_identifiers":["MONDO:0030987","OMIM:619227","UMLS:C5543189","medgen:1788069"],"information_content":100.0}
{"id":"MONDO:0030988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental delay with dysmorphic facies and dental anomalies","equivalent_identifiers":["MONDO:0030988","OMIM:619228","UMLS:C5543197","medgen:1785587"],"information_content":100.0}
{"id":"MONDO:0030989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 53","equivalent_identifiers":["MONDO:0030989","DOID:0112279","OMIM:619258","UMLS:C5543253","medgen:1787013"],"information_content":100.0}
{"id":"MONDO:0030990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kohlschutter-Tonz syndrome-like","equivalent_identifiers":["MONDO:0030990","OMIM:619229","UMLS:C5543202","medgen:1781649"],"information_content":100.0}
{"id":"MONDO:0030991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bile acid conjugation defect 1","equivalent_identifiers":["MONDO:0030991","OMIM:619232","UMLS:C5543203","medgen:1780260"],"information_content":100.0}
{"id":"MONDO:0030992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature, oligodontia, dysmorphic facies, and motor delay","equivalent_identifiers":["MONDO:0030992","OMIM:619234","UMLS:C5543206","medgen:1787876"],"information_content":100.0}
{"id":"MONDO:0030993","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tessadori-Van Haaften neurodevelopmental syndrome 3","equivalent_identifiers":["MONDO:0030993","OMIM:619950","UMLS:C5774310","medgen:1824083"],"information_content":100.0}
{"id":"MONDO:0030994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with or without autism or seizures","equivalent_identifiers":["MONDO:0030994","OMIM:619239","UMLS:C5543225","medgen:1784023"],"information_content":100.0}
{"id":"MONDO:0030995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"global developmental delay with speech and behavioral abnormalities","equivalent_identifiers":["MONDO:0030995","OMIM:619243","UMLS:C5543226","medgen:1787991"],"information_content":100.0}
{"id":"MONDO:0030996","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bleeding disorder, platelet-type, 24","equivalent_identifiers":["MONDO:0030996","OMIM:619271","UMLS:C5543280","medgen:1785711"],"information_content":100.0}
{"id":"MONDO:0030997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 1 deficiency, nuclear type 37","equivalent_identifiers":["MONDO:0030997","OMIM:619272","UMLS:C5543281","medgen:1783339"],"information_content":100.0}
{"id":"MONDO:0030998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal dominant 80","equivalent_identifiers":["MONDO:0030998","DOID:0070602","OMIM:619274","UMLS:C5543289","medgen:1779667"],"information_content":100.0}
{"id":"MONDO:0030999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism","equivalent_identifiers":["MONDO:0030999","OMIM:619244","UMLS:C5543228","medgen:1786662"],"information_content":100.0}
{"id":"MONDO:0031000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tessadori-Van Haaften neurodevelopmental syndrome 4","equivalent_identifiers":["MONDO:0031000","OMIM:619951","UMLS:C5677016","medgen:1804234"],"information_content":100.0}
{"id":"MONDO:0031001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitreoretinopathy with phalangeal epiphyseal dysplasia","equivalent_identifiers":["MONDO:0031001","OMIM:619248","UMLS:C1852989","MESH:C565179","medgen:343940"],"information_content":100.0}
{"id":"MONDO:0031002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Baralle-Macken syndrome","equivalent_identifiers":["MONDO:0031002","OMIM:619255","UMLS:C5543241","SNOMEDCT:1351838008","medgen:1778777"],"information_content":100.0}
{"id":"MONDO:0031003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercholanemia, familial, 2","equivalent_identifiers":["MONDO:0031003","OMIM:619256","UMLS:C5543243","medgen:1780531"],"information_content":100.0}
{"id":"MONDO:0031006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration with ataxia and late-onset optic atrophy","equivalent_identifiers":["MONDO:0031006","OMIM:619259","UMLS:C5543254","medgen:1779901"],"information_content":100.0}
{"id":"MONDO:0031007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis","equivalent_identifiers":["MONDO:0031007","DOID:0112290","OMIM:619260","orphanet:611207","UMLS:C5543257","SNOMEDCT:1356736002","medgen:1780157"],"information_content":100.0}
{"id":"MONDO:0031008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome, type 24","equivalent_identifiers":["MONDO:0031008","OMIM:619263","orphanet:567548","UMLS:C5543267","medgen:1781068"],"information_content":100.0}
{"id":"MONDO:0031009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glanzmann thrombasthenia 2","equivalent_identifiers":["MONDO:0031009","OMIM:619267","UMLS:C5543273","medgen:1782592"],"information_content":100.0}
{"id":"MONDO:0031010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontochondrodysplasia 2 with hearing loss and diabetes","equivalent_identifiers":["MONDO:0031010","OMIM:619269","UMLS:C5543275","medgen:1782909"],"information_content":100.0}
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{"id":"MONDO:0031019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia 87, autosomal recessive","equivalent_identifiers":["MONDO:0031019","DOID:0070456","OMIM:619966","orphanet:631088","UMLS:C5774182","medgen:1813069"],"information_content":100.0}
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{"id":"MONDO:0031043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 12","equivalent_identifiers":["MONDO:0031043","DOID:0081030","OMIM:620014","UMLS:C5774203","medgen:1823976"],"information_content":100.0}
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{"id":"MONDO:0032901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Catifa syndrome","equivalent_identifiers":["MONDO:0032901","OMIM:618761","UMLS:C5231492","medgen:1684686"],"information_content":100.0}
{"id":"MONDO:0032902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 36","equivalent_identifiers":["MONDO:0032902","OMIM:618763","UMLS:C5231493","medgen:1684786"],"information_content":100.0}
{"id":"MONDO:0032903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum","equivalent_identifiers":["MONDO:0032903","DOID:0080980","OMIM:618766","UMLS:C5231494","medgen:1684706"],"information_content":100.0}
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{"id":"MONDO:0032905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia 81, autosomal recessive","equivalent_identifiers":["MONDO:0032905","OMIM:618768","UMLS:C5394033","medgen:1711668"],"information_content":100.0}
{"id":"MONDO:0032906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia 82, autosomal recessive","equivalent_identifiers":["MONDO:0032906","DOID:0112343","OMIM:618770","orphanet:631073","UMLS:C5394037","medgen:1710411"],"information_content":100.0}
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{"id":"MONDO:0032908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CEBALID syndrome","equivalent_identifiers":["MONDO:0032908","OMIM:618774","UMLS:C5394044","medgen:1710973"],"information_content":100.0}
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{"id":"MONDO:0032910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex 1 deficiency, nuclear type 34","equivalent_identifiers":["MONDO:0032910","DOID:0112091","OMIM:618776","UMLS:C5394053","medgen:1720533"],"information_content":100.0}
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{"id":"MONDO:0032913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital heart defects, multiple types, 7","equivalent_identifiers":["MONDO:0032913","OMIM:618780","UMLS:C5394062","medgen:1714491"],"information_content":100.0}
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{"id":"MONDO:0033006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Galloway-Mowat syndrome 2, X-linked","equivalent_identifiers":["MONDO:0033006","DOID:0080244","OMIM:301006","UMLS:C4538784","medgen:1625619"],"information_content":100.0}
{"id":"MONDO:0033007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Galloway-Mowat syndrome 3","equivalent_identifiers":["MONDO:0033007","DOID:0080245","OMIM:617729","UMLS:C4540266","medgen:1627611"],"information_content":100.0}
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{"id":"MONDO:0033044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel syndrome 13","equivalent_identifiers":["MONDO:0033044","DOID:0080253","OMIM:617562","UMLS:C4539714","medgen:1627793"],"information_content":100.0}
{"id":"MONDO:0033045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome 16","equivalent_identifiers":["MONDO:0033045","DOID:0080254","OMIM:617563","UMLS:C4539729","medgen:1620071"],"information_content":100.0}
{"id":"MONDO:0033046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meier-Gorlin syndrome 8","equivalent_identifiers":["MONDO:0033046","DOID:0080255","OMIM:617564","UMLS:C4479655","medgen:1390366"],"information_content":100.0}
{"id":"MONDO:0033047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Perrault syndrome 6","equivalent_identifiers":["MONDO:0033047","DOID:0080256","OMIM:617565","UMLS:C4479656","medgen:1391447"],"information_content":100.0}
{"id":"MONDO:0033091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis, congenital, autosomal recessive 14","equivalent_identifiers":["MONDO:0033091","DOID:0080258","OMIM:617571","UMLS:C4539754","medgen:1620129"],"information_content":100.0}
{"id":"MONDO:0033092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis, congenital, autosomal recessive 13","equivalent_identifiers":["MONDO:0033092","DOID:0080257","OMIM:617574","UMLS:C4539772","medgen:1620886"],"information_content":100.0}
{"id":"MONDO:0033115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 25","equivalent_identifiers":["MONDO:0033115","DOID:0080259","OMIM:617584","UMLS:C4539808","medgen:1618081"],"information_content":100.0}
{"id":"MONDO:0033116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 26","equivalent_identifiers":["MONDO:0033116","DOID:0080260","OMIM:617633","UMLS:C4539948","medgen:1617917"],"information_content":100.0}
{"id":"MONDO:0033123","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exudative vitreoretinopathy 7","equivalent_identifiers":["MONDO:0033123","DOID:0080264","OMIM:617572","UMLS:C4539767","medgen:1626650"],"information_content":100.0}
{"id":"MONDO:0033135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease, demyelinating, type 1G","equivalent_identifiers":["MONDO:0033135","DOID:0111560","OMIM:618279","orphanet:476394","EFO:0010266","UMLS:C4748940","medgen:1648290"],"information_content":100.0}
{"id":"MONDO:0033198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal recessive 106","equivalent_identifiers":["MONDO:0033198","DOID:0080261","OMIM:617637","UMLS:C4539954","medgen:1627111"],"information_content":100.0}
{"id":"MONDO:0033199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal recessive 107","equivalent_identifiers":["MONDO:0033199","DOID:0080262","OMIM:617639","UMLS:C4539964","medgen:1622558"],"information_content":100.0}
{"id":"MONDO:0033200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal recessive 108","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0033200","DOID:0080263","OMIM:617654","UMLS:C4539997","medgen:1627841"],"information_content":100.0}
{"id":"MONDO:0033201","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal recessive 57","equivalent_identifiers":["MONDO:0033201","DOID:0111635","OMIM:618003","UMLS:C4693893","medgen:1631180"],"information_content":100.0}
{"id":"MONDO:0033202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal recessive 109","equivalent_identifiers":["MONDO:0033202","DOID:0111639","OMIM:618013","UMLS:C4693935","medgen:1633308"],"information_content":100.0}
{"id":"MONDO:0033203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RENI SYNDROME","equivalent_identifiers":["MONDO:0033203","DOID:0080265","OMIM:617575","orphanet:506334","UMLS:C4540559","medgen:1617660"],"information_content":100.0}
{"id":"MONDO:0033204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary dyskinesia, primary, 37","equivalent_identifiers":["MONDO:0033204","DOID:0080266","OMIM:617577","UMLS:C4539798","medgen:1615746"],"information_content":100.0}
{"id":"MONDO:0033258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal dominant 71","equivalent_identifiers":["MONDO:0033258","DOID:0080267","OMIM:617605","UMLS:C4539881","medgen:1621646"],"information_content":100.0}
{"id":"MONDO:0033259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal dominant 72","equivalent_identifiers":["MONDO:0033259","DOID:0080268","OMIM:617606","UMLS:C4539886","medgen:1614203"],"information_content":100.0}
{"id":"MONDO:0033260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal dominant 73","equivalent_identifiers":["MONDO:0033260","DOID:0080269","OMIM:617663","UMLS:C4540024","medgen:1627153"],"information_content":100.0}
{"id":"MONDO:0033261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal dominant 34, with or without inflammation","equivalent_identifiers":["MONDO:0033261","DOID:0080270","OMIM:617772","UMLS:C4521680","medgen:1626346"],"information_content":100.0}
{"id":"MONDO:0033262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome 15","equivalent_identifiers":["MONDO:0033262","DOID:0080271","OMIM:617609","UMLS:C4539896","medgen:1620414"],"information_content":100.0}
{"id":"MONDO:0033280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrotic syndrome 16","equivalent_identifiers":["MONDO:0033280","DOID:0080272","OMIM:617783","UMLS:C4540453","medgen:1622427"],"information_content":100.0}
{"id":"MONDO:0033281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic kidney disease 5","equivalent_identifiers":["MONDO:0033281","DOID:0080273","OMIM:617610","UMLS:C4539903","medgen:1624679"],"information_content":100.0}
{"id":"MONDO:0033282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple mitochondrial dysfunctions syndrome 5","equivalent_identifiers":["MONDO:0033282","DOID:0080274","OMIM:617613","orphanet:569274","UMLS:C4539919","SNOMEDCT:1279890001","medgen:1623132"],"information_content":100.0}
{"id":"MONDO:0033308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 30","equivalent_identifiers":["MONDO:0033308","DOID:0080275","OMIM:617622","UMLS:C4539937","medgen:1613861"],"information_content":100.0}
{"id":"MONDO:0033309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 32","equivalent_identifiers":["MONDO:0033309","DOID:0080278","OMIM:617757","UMLS:C4540342","medgen:1626697"],"information_content":100.0}
{"id":"MONDO:0033310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 31","equivalent_identifiers":["MONDO:0033310","DOID:0080277","OMIM:617761","UMLS:C4540355","medgen:1618082"],"information_content":100.0}
{"id":"MONDO:0033311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Joubert syndrome 33","equivalent_identifiers":["MONDO:0033311","DOID:0080279","OMIM:617767","UMLS:C4540389","medgen:1615779"],"information_content":100.0}
{"id":"MONDO:0033312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 19","equivalent_identifiers":["MONDO:0033312","DOID:0080281","OMIM:617629","UMLS:C4539944","medgen:1613937"],"information_content":100.0}
{"id":"MONDO:0033361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 52","equivalent_identifiers":["MONDO:0033361","DOID:0080455","OMIM:617350","UMLS:C4479236","medgen:1376462"],"information_content":100.0}
{"id":"MONDO:0033362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 53","equivalent_identifiers":["MONDO:0033362","DOID:0080464","OMIM:617389","UMLS:C4479313","medgen:1374886"],"information_content":100.0}
{"id":"MONDO:0033363","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 54","equivalent_identifiers":["MONDO:0033363","DOID:0080418","OMIM:617391","UMLS:C4479319","medgen:1392637"],"information_content":100.0}
{"id":"MONDO:0033364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 55","equivalent_identifiers":["MONDO:0033364","DOID:0080283","OMIM:617599","UMLS:C4539843","medgen:1622363"],"information_content":100.0}
{"id":"MONDO:0033365","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 56","equivalent_identifiers":["MONDO:0033365","DOID:0080282","OMIM:617665","UMLS:C4540034","medgen:1621755"],"information_content":100.0}
{"id":"MONDO:0033366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 57","equivalent_identifiers":["MONDO:0033366","DOID:0080284","OMIM:617771","UMLS:C4540411","medgen:1621769"],"information_content":100.0}
{"id":"MONDO:0033367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 58","equivalent_identifiers":["MONDO:0033367","DOID:0080285","OMIM:617830","UMLS:C4693367","medgen:1646861"],"information_content":100.0}
{"id":"MONDO:0033368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 59","equivalent_identifiers":["MONDO:0033368","DOID:0080291","OMIM:617904","UMLS:C4693550","medgen:1633749"],"information_content":100.0}
{"id":"MONDO:0033369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 60","equivalent_identifiers":["MONDO:0033369","DOID:0080432","OMIM:617929","UMLS:C4693663","medgen:1638894"],"information_content":100.0}
{"id":"MONDO:0033370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 61","equivalent_identifiers":["MONDO:0033370","DOID:0080434","OMIM:617933","UMLS:C4693688","medgen:1639392"],"information_content":100.0}
{"id":"MONDO:0033371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 62","equivalent_identifiers":["MONDO:0033371","DOID:0080420","OMIM:617938","UMLS:C4693699","medgen:1631233"],"information_content":100.0}
{"id":"MONDO:0033372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 63","equivalent_identifiers":["MONDO:0033372","DOID:0080426","OMIM:617976","UMLS:C4693810","medgen:1646846"],"information_content":100.0}
{"id":"MONDO:0033373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 64","equivalent_identifiers":["MONDO:0033373","DOID:0070375","OMIM:618004","UMLS:C4693899","medgen:1633501"],"information_content":100.0}
{"id":"MONDO:0033374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 65","equivalent_identifiers":["MONDO:0033374","DOID:0080430","OMIM:618008","UMLS:C4693925","NCIT:C201518","medgen:1634676"],"information_content":100.0}
{"id":"MONDO:0033375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome 17","equivalent_identifiers":["MONDO:0033375","DOID:0080289","OMIM:617926","UMLS:C4693640","medgen:1644516"],"information_content":100.0}
{"id":"MONDO:0033479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 44","equivalent_identifiers":["MONDO:0033479","DOID:0080286","OMIM:617691","orphanet:631095","UMLS:C4521563","medgen:1611168"],"information_content":100.0}
{"id":"MONDO:0033480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 45","equivalent_identifiers":["MONDO:0033480","DOID:0080287","OMIM:617769","orphanet:589527","UMLS:C4540400","SNOMEDCT:1279840000","medgen:1622156"],"information_content":100.0}
{"id":"MONDO:0033481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 46","equivalent_identifiers":["MONDO:0033481","DOID:0080288","OMIM:617770","orphanet:589522","UMLS:C4540404","SNOMEDCT:1279839002","medgen:1624251"],"information_content":100.0}
{"id":"MONDO:0033482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 47","equivalent_identifiers":["MONDO:0033482","DOID:0111743","orphanet:642747","UMLS:C4693672","SNOMEDCT:1260097007","medgen:1636349"],"information_content":100.0}
{"id":"MONDO:0033483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrocytosis, familial, 5","equivalent_identifiers":["MONDO:0033483","DOID:0080290","OMIM:617907","UMLS:C4693552","medgen:1638941"],"information_content":100.0}
{"id":"MONDO:0033485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 19 with or without polydactyly","equivalent_identifiers":["MONDO:0033485","DOID:0080295","OMIM:617895","UMLS:C4693524","medgen:1635837"],"information_content":100.0}
{"id":"MONDO:0033486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukodystrophy, hypomyelinating, 14","equivalent_identifiers":["MONDO:0033486","DOID:0080296","OMIM:617899","UMLS:C4693535","medgen:1635255"],"information_content":100.0}
{"id":"MONDO:0033492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coffin-Siris syndrome 6","equivalent_identifiers":["MONDO:0033492","DOID:0080297","OMIM:617808","UMLS:C4540499","medgen:1615540"],"information_content":100.0}
{"id":"MONDO:0033493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibromatosis, gingival, 5","equivalent_identifiers":["MONDO:0033493","DOID:0080280","OMIM:617626","UMLS:C4539942","medgen:1624392"],"information_content":100.0}
{"id":"MONDO:0033532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Suleiman-El-Hattab syndrome","equivalent_identifiers":["MONDO:0033532","OMIM:618950","UMLS:C5436458","medgen:1738652"],"information_content":100.0}
{"id":"MONDO:0033533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 45","equivalent_identifiers":["MONDO:0033533","DOID:0112113","OMIM:618951","UMLS:C5436461","medgen:1731010"],"information_content":100.0}
{"id":"MONDO:0033534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 46","equivalent_identifiers":["MONDO:0033534","DOID:0112115","OMIM:618952","UMLS:C5436466","medgen:1752252"],"information_content":100.0}
{"id":"MONDO:0033537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 47","equivalent_identifiers":["MONDO:0033537","DOID:0112114","OMIM:618958","UMLS:C5436476","medgen:1775535"],"information_content":100.0}
{"id":"MONDO:0033541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 69","equivalent_identifiers":["MONDO:0033541","DOID:0112006","OMIM:618963","UMLS:C5436498","medgen:1735911"],"information_content":100.0}
{"id":"MONDO:0033542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 70","equivalent_identifiers":["MONDO:0033542","DOID:0112005","OMIM:618969","UMLS:C5436501","medgen:1740270"],"information_content":100.0}
{"id":"MONDO:0033543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod synaptic disorder syndrome, congenital nonprogressive","equivalent_identifiers":["MONDO:0033543","OMIM:618970","UMLS:C5436505","medgen:1773574"],"information_content":100.0}
{"id":"MONDO:0033544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tolchin-Le Caignec syndrome","equivalent_identifiers":["MONDO:0033544","OMIM:618971","UMLS:C5436509","medgen:1724999"],"information_content":100.0}
{"id":"MONDO:0033545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome 19","equivalent_identifiers":["MONDO:0033545","DOID:0070450","OMIM:618972","UMLS:C5436514","medgen:1770258"],"information_content":100.0}
{"id":"MONDO:0033546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration, infantile-onset, biotin-responsive","equivalent_identifiers":["MONDO:0033546","OMIM:618973","UMLS:C5436520","medgen:1771692"],"information_content":100.0}
{"id":"MONDO:0033547","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Li-Ghorbani-Weisz-Hubshman syndrome","equivalent_identifiers":["MONDO:0033547","OMIM:618974","UMLS:C5436525","medgen:1763263"],"information_content":100.0}
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{"id":"MONDO:0033925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pediatric-onset Graves disease","equivalent_identifiers":["MONDO:0033925","orphanet:525731","UMLS:C5680179","medgen:1842979"],"information_content":100.0}
{"id":"MONDO:0033938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute radiation syndrome","equivalent_identifiers":["MONDO:0033938","orphanet:454831","UMLS:C0520799","MESH:D054508","MEDDRA:10001036","MEDDRA:10001037","SNOMEDCT:1260191006"],"information_content":100.0}
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{"id":"MONDO:0033968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome","equivalent_identifiers":["MONDO:0033968","orphanet:529977","UMLS:C5568533","SNOMEDCT:1186654001","medgen:1799956"],"information_content":100.0}
{"id":"MONDO:0033969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease-recurrent sinopulmonary infections syndrome","equivalent_identifiers":["MONDO:0033969","orphanet:529980","UMLS:C5568532","SNOMEDCT:1186652002","medgen:1799955"],"information_content":100.0}
{"id":"MONDO:0033980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RELA fusion-positive ependymoma","equivalent_identifiers":["MONDO:0033980","DOID:0080892","orphanet:530792","UMLS:C4289581","NCIT:C129351","SNOMEDCT:733868000","medgen:927113"],"information_content":95.4}
{"id":"MONDO:0034021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylodysplastic Ehlers-Danlos syndrome","equivalent_identifiers":["MONDO:0034021","orphanet:536471","UMLS:C5680154","SNOMEDCT:1251488008","medgen:1814455"],"information_content":100.0}
{"id":"MONDO:0034022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bethlem myopathy 2","equivalent_identifiers":["MONDO:0034022","OMIM:616471","orphanet:536516","UMLS:C4225313","medgen:907426"],"information_content":100.0}
{"id":"MONDO:0034054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CD70 Deficiency","equivalent_identifiers":["MONDO:0034054","OMIM:618261","orphanet:538958","UMLS:C5568559","NCIT:C168591","SNOMEDCT:1186715006","medgen:1799982"],"information_content":100.0}
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{"id":"MONDO:0034109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy with reduced type 2 muscle fibers","equivalent_identifiers":["MONDO:0034109","DOID:0081346","OMIM:618414","orphanet:544602","UMLS:C5193081","SNOMEDCT:1255274002","medgen:1672638"],"information_content":100.0}
{"id":"MONDO:0034110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical Fanconi syndrome-neonatal hyperinsulinism syndrome","equivalent_identifiers":["MONDO:0034110","orphanet:544628","UMLS:C5681324","SNOMEDCT:1269271003","medgen:1830116"],"information_content":100.0}
{"id":"MONDO:0034121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NAD(P)HX dehydratase deficiency","equivalent_identifiers":["MONDO:0034121","OMIM:618321","orphanet:555402","UMLS:C5193026","SNOMEDCT:1251446004","medgen:1681210"],"information_content":100.0}
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{"id":"MONDO:0034143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset calcifying leukoencephalopathy-skeletal dysplasia","equivalent_identifiers":["MONDO:0034143","orphanet:556985","UMLS:C5681333","SNOMEDCT:1222661007","medgen:1805057"],"information_content":100.0}
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{"id":"MONDO:0034146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic ataxia-dysarthria due to glutaminase deficiency","equivalent_identifiers":["MONDO:0034146","orphanet:557056","UMLS:C5681336","SNOMEDCT:1255323007","medgen:1814477"],"information_content":100.0}
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{"id":"MONDO:0034991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome","equivalent_identifiers":["MONDO:0034991","orphanet:508512","UMLS:C5567901","SNOMEDCT:1177178005","medgen:1799324"],"information_content":100.0}
{"id":"MONDO:0035009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated mesenteric vein thrombosis","equivalent_identifiers":["MONDO:0035009","orphanet:583861","icd11.foundation:213868120"],"information_content":100.0}
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{"id":"MONDO:0035402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated exencephaly","equivalent_identifiers":["MONDO:0035402","orphanet:563612"],"information_content":100.0}
{"id":"MONDO:0035423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"triglyceride deposit cardiomyovasculopathy","equivalent_identifiers":["MONDO:0035423","orphanet:565612","UMLS:C5680124","SNOMEDCT:1279844009","medgen:1830096"],"information_content":100.0}
{"id":"MONDO:0035432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"POMGNT2-related limb-girdle muscular dystrophy R24","equivalent_identifiers":["MONDO:0035432","orphanet:565899","UMLS:C5680123","SNOMEDCT:1279884000","medgen:1830095"],"information_content":100.0}
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{"id":"MONDO:0035445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chronic MCL","equivalent_identifiers":["MONDO:0035445","orphanet:566396","UMLS:C5680130","medgen:1843226"],"information_content":100.0}
{"id":"MONDO:0035450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aprosencephaly","equivalent_identifiers":["MONDO:0035450","orphanet:566857","UMLS:C0431349","NCIT:C98824","SNOMEDCT:277922001","medgen:140908","icd11.foundation:1740361952","HP:0007268"],"information_content":100.0}
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{"id":"MONDO:0035500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital primary lymphedema of Gordon","equivalent_identifiers":["MONDO:0035500","orphanet:569821","UMLS:C5680138","SNOMEDCT:1222669009","medgen:1804948"],"information_content":100.0}
{"id":"MONDO:0035521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharophimosis-ptosis-epicanthus inversus syndrome plus","equivalent_identifiers":["MONDO:0035521","orphanet:572333","UMLS:C5437588","SNOMEDCT:890180006","medgen:1761196"],"information_content":100.0}
{"id":"MONDO:0035524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BPES type 1","equivalent_identifiers":["MONDO:0035524","orphanet:572354","UMLS:C5680365","medgen:1843155"],"information_content":100.0}
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{"id":"MONDO:0035548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency","equivalent_identifiers":["MONDO:0035548","orphanet:574957","UMLS:C5680361","SNOMEDCT:1279842008","medgen:1830105"],"information_content":100.0}
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{"id":"MONDO:0035660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GNAO1-related developmental delay-seizures-movement disorder spectrum","equivalent_identifiers":["MONDO:0035660","orphanet:592564","UMLS:C5680303","SNOMEDCT:1281842000","medgen:1830103"],"information_content":100.0}
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{"id":"MONDO:0035678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Timothy syndrome type 1","equivalent_identifiers":["MONDO:0035678","orphanet:595098","UMLS:C5574939","medgen:1802409"],"information_content":100.0}
{"id":"MONDO:0035679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Timothy syndrome type 2","equivalent_identifiers":["MONDO:0035679","orphanet:595105","UMLS:C4304347","medgen:930016"],"information_content":100.0}
{"id":"MONDO:0035694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to RELA haploinsufficiency","equivalent_identifiers":["MONDO:0035694","orphanet:596759","UMLS:C5680288","SNOMEDCT:1336027001","medgen:1843216"],"information_content":100.0}
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{"id":"MONDO:0037149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HSD10 disease, atypical type","equivalent_identifiers":["MONDO:0037149","orphanet:85295","UMLS:C5680206","medgen:1843277"],"information_content":100.0}
{"id":"MONDO:0037251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congestive splenomegaly","equivalent_identifiers":["MONDO:0037251","UMLS:C0154307","UMLS:C0400885","MESH:C537903","MESH:D000094724","MEDDRA:10072317","MEDDRA:10072318","MEDDRA:10077260","SNOMEDCT:19058002","SNOMEDCT:197316009","SNOMEDCT:722867009","medgen:56339","HP:0031015"],"information_content":95.4}
{"id":"MONDO:0037253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian thecoma","equivalent_identifiers":["MONDO:0037253","UMLS:C1882229","UMLS:C4721567","MEDDRA:10073261","MEDDRA:10073274","NCIT:C66989","SNOMEDCT:254864005","medgen:364155","HP:0030983"],"information_content":86.3}
{"id":"MONDO:0037748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperlipoproteinemia","equivalent_identifiers":["MONDO:0037748","UMLS:C0020476","MESH:D006951","MEDDRA:10020668","MEDDRA:10058221","NCIT:C34709","SNOMEDCT:3744001","medgen:9363","HP:0010980"],"information_content":79.0}
{"id":"MONDO:0040500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycosylphosphatidylinositol biosynthesis defect 16","equivalent_identifiers":["MONDO:0040500","DOID:0081223","OMIM:617816","UMLS:C4540521","medgen:1628197"],"information_content":100.0}
{"id":"MONDO:0040501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, arthrochalasia type, 2","equivalent_identifiers":["MONDO:0040501","DOID:0080728","OMIM:617821"],"information_content":100.0}
{"id":"MONDO:0040502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glucocorticoid deficiency 5","equivalent_identifiers":["MONDO:0040502","OMIM:617825","UMLS:C4540522","medgen:1614419"],"information_content":100.0}
{"id":"MONDO:0040503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharocheilodontic syndrome 2","equivalent_identifiers":["MONDO:0040503","DOID:0080346","OMIM:617681","UMLS:C4540127","medgen:1623594"],"information_content":100.0}
{"id":"MONDO:0042485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Infected joint","equivalent_identifiers":["MONDO:0042485","UMLS:C0003869","UMLS:C3891815","UMLS:C4280547","MEDDRA:10003259","MEDDRA:10003266","MEDDRA:10003272","MEDDRA:10021904","MEDDRA:10021915","MEDDRA:10037631","MEDDRA:10037638","MEDDRA:10040057","MEDDRA:10040062","MEDDRA:10045948","MEDDRA:10045958","MEDDRA:10060968","MEDDRA:10073464","NCIT:C118475","NCIT:C26700","SNOMEDCT:372939007","SNOMEDCT:396234004","medgen:13918","HP:0003095"],"information_content":84.2}
{"id":"MONDO:0042490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutropenia, severe congenital, 1, autosomal dominant","equivalent_identifiers":["MONDO:0042490","DOID:0080625","OMIM:202700","UMLS:C1859966","MESH:C565969","NCIT:C176827","medgen:348506"],"information_content":100.0}
{"id":"MONDO:0042499","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign familial neonatal-infantile seizures 1","equivalent_identifiers":["MONDO:0042499","DOID:0081114","OMIM:601764","UMLS:C4551769","medgen:1638448"],"information_content":100.0}
{"id":"MONDO:0042727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sacrococcygeal teratoma","equivalent_identifiers":["MONDO:0042727","orphanet:494421","UMLS:C0559459","MEDDRA:10059810","NCIT:C99055","SNOMEDCT:281561000","medgen:107852","HP:0030736"],"information_content":89.4}
{"id":"MONDO:0042979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypokalemic periodic paralysis, type 1","equivalent_identifiers":["MONDO:0042979","OMIM:170400","UMLS:C3714580","medgen:811387"],"information_content":100.0}
{"id":"MONDO:0042981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic stenosis","equivalent_identifiers":["MONDO:0042981","DOID:1712","EFO:0000266","UMLS:C0003507","UMLS:C0155567","MESH:D001024","MEDDRA:10002906","MEDDRA:10002918","MEDDRA:10039047","MEDDRA:10041974","NCIT:C197952","NCIT:C50462","NCIT:C64938","SNOMEDCT:420503003","SNOMEDCT:60573004","SNOMEDCT:72011007","medgen:1621","icd11.foundation:956813047","ICD10:I06.0","ICD10:Q23.0","ICD9:395.0","ICD9:746.3","HP:0001650"],"information_content":85.5}
{"id":"MONDO:0043003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial acanthosis nigricans","equivalent_identifiers":["MONDO:0043003","OMIM:100600","UMLS:C2930792","MESH:C531598","medgen:419638"],"information_content":100.0}
{"id":"MONDO:0043143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microphthalmia microtia fetal akinesia","equivalent_identifiers":["MONDO:0043143","orphanet:2547","UMLS:C2931224","MESH:C536513","SNOMEDCT:1230344000","medgen:444005"],"information_content":100.0}
{"id":"MONDO:0043164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmer pagon syndrome","equivalent_identifiers":["MONDO:0043164","orphanet:2184","UMLS:C2931734","MESH:C538107","SNOMEDCT:1208346003","medgen:419886"],"information_content":100.0}
{"id":"MONDO:0043209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"albinism","equivalent_identifiers":["MONDO:0043209","UMLS:C0001916","UMLS:C0333913","MESH:D000417","MEDDRA:10001557","NCIT:C84543","SNOMEDCT:15890002","SNOMEDCT:18064000","medgen:182","HP:0001022"],"information_content":90.9}
{"id":"MONDO:0043233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Erythroderma","equivalent_identifiers":["MONDO:0043233","EFO:0009456","UMLS:C0011606","UMLS:C5139033","MESH:D003873","MEDDRA:10012455","MEDDRA:10012456","MEDDRA:10012457","MEDDRA:10015277","MEDDRA:10015665","MEDDRA:10015666","MEDDRA:10018082","MEDDRA:10052584","MEDDRA:10062416","MEDDRA:10062434","MEDDRA:10087662","NCIT:C39646","SNOMEDCT:200948000","SNOMEDCT:396349005","SNOMEDCT:396350005","SNOMEDCT:399992009","SNOMEDCT:400005007","medgen:3767","HP:0001019"],"information_content":90.9}
{"id":"MONDO:0043237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glossodynia","equivalent_identifiers":["MONDO:0043237","UMLS:C0017672","MESH:D005926","MEDDRA:10018388","MEDDRA:10033496","MEDDRA:10041369","MEDDRA:10043969","MEDDRA:10043980","SNOMEDCT:30731004","medgen:6617","icd11.foundation:1755751917","HP:0030811"],"information_content":100.0}
{"id":"MONDO:0043251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontoma","equivalent_identifiers":["MONDO:0043251","UMLS:C0028882","MESH:D009810","MEDDRA:10083400","NCIT:C3287","SNOMEDCT:1156647001","SNOMEDCT:79074005","medgen:45181","HP:0011068"],"information_content":90.9}
{"id":"MONDO:0043287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"superior vena cava syndrome","equivalent_identifiers":["MONDO:0043287","EFO:1001855","UMLS:C0038833","UMLS:C1336532","MESH:D013479","MEDDRA:10042568","MEDDRA:10042569","MEDDRA:10058988","NCIT:C3396","NCIT:C36065","SNOMEDCT:470759007","SNOMEDCT:63363004","SNOMEDCT:766949003","medgen:52576","HP:0031041"],"information_content":76.7}
{"id":"MONDO:0043303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperacusis","equivalent_identifiers":["MONDO:0043303","UMLS:C0034880","MESH:D012001","MEDDRA:10003786","MEDDRA:10019240","MEDDRA:10020559","MEDDRA:10033520","MEDDRA:10052526","NCIT:C116366","SNOMEDCT:194399009","SNOMEDCT:25289003","medgen:20497","icd11.foundation:652034206","HP:0010780"],"information_content":95.4}
{"id":"MONDO:0043310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amaurosis fugax","equivalent_identifiers":["MONDO:0043310","UMLS:C0149793","MESH:D020757","MEDDRA:10001903","MEDDRA:10043211","MEDDRA:10051034","NCIT:C84550","SNOMEDCT:88032003","medgen:57702","icd11.foundation:691084626","HP:0100576"],"information_content":100.0}
{"id":"MONDO:0043330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mirizzi syndrome","equivalent_identifiers":["MONDO:0043330","orphanet:521219","UMLS:C0267878","MESH:D057792","MEDDRA:10064809","SNOMEDCT:4283007","medgen:120605","icd11.foundation:381742412"],"information_content":100.0}
{"id":"MONDO:0043364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophil peroxidase deficiency","equivalent_identifiers":["MONDO:0043364","OMIM:261500","UMLS:C1850000","MESH:C564893","SNOMEDCT:711160007","medgen:342386"],"information_content":100.0}
{"id":"MONDO:0043370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary adrenal insufficiency","equivalent_identifiers":["MONDO:0043370","UMLS:C0271738","UMLS:C0948387","MEDDRA:10039807","MEDDRA:10052382","NCIT:C62602","SNOMEDCT:16685009","medgen:184925","HP:0011734"],"information_content":89.4}
{"id":"MONDO:0043424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digestive system infectious disorder","equivalent_identifiers":["MONDO:0043424","UMLS:C0729555","UMLS:C1854495","UMLS:C4082764","MEDDRA:10017964","MEDDRA:10017965","MEDDRA:10017966","MEDDRA:10018234","NCIT:C35503","SNOMEDCT:128398001","SNOMEDCT:312158001","SNOMEDCT:715852004","HP:0004798"],"information_content":63.1}
{"id":"MONDO:0043465","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achlorhydria","equivalent_identifiers":["MONDO:0043465","UMLS:C0001075","MESH:D000126","MEDDRA:10000451","MEDDRA:10000455","NCIT:C2850","SNOMEDCT:20754004","SNOMEDCT:47481007","medgen:1714","icd11.foundation:157689543","HP:0032448"],"information_content":100.0}
{"id":"MONDO:0043494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arteritis","equivalent_identifiers":["MONDO:0043494","EFO:0009011","UMLS:C0003860","MESH:D001167","MEDDRA:10003230","MEDDRA:10003233","MEDDRA:10003235","MEDDRA:10021970","MEDDRA:10021971","NCIT:C34399","SNOMEDCT:52089001","medgen:13916","HP:0012089"],"information_content":82.1}
{"id":"MONDO:0043537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cluster headache syndrome","equivalent_identifiers":["MONDO:0043537","UMLS:C0009088","MESH:D003027","MEDDRA:10009698","MEDDRA:10019217","MEDDRA:10019229","MEDDRA:10019232","MEDDRA:10020397","MEDDRA:10027612","MEDDRA:10059133","MEDDRA:10086874","NCIT:C117077","SNOMEDCT:193031009","SNOMEDCT:193947008","SNOMEDCT:230473009","medgen:3503","ICD10:G44.0","HP:0012199"],"information_content":95.4}
{"id":"MONDO:0043731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lytic lesion","equivalent_identifiers":["MONDO:0043731","UMLS:C0221204","UMLS:C0302313","UMLS:C4721411","MESH:D010014","MEDDRA:10031248","MEDDRA:10038642","MEDDRA:10051544","NCIT:C35371","NCIT:C41040","NCIT:C50681","SNOMEDCT:203522001","SNOMEDCT:30425001","medgen:137065","HP:0002797"],"information_content":71.7}
{"id":"MONDO:0043765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"presbycusis","equivalent_identifiers":["MONDO:0043765","EFO:0005782","UMLS:C0033074","MESH:D011304","MEDDRA:10011883","MEDDRA:10036625","MEDDRA:10036626","MEDDRA:10036627","MEDDRA:10039963","MEDDRA:10039985","NCIT:C116367","SNOMEDCT:49526009","medgen:10911","icd11.foundation:1569854675","HP:0040113"],"information_content":92.8}
{"id":"MONDO:0043775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"respiratory paralysis","equivalent_identifiers":["MONDO:0043775","EFO:1001840","UMLS:C0035232","UMLS:C0521528","UMLS:C4551685","MESH:D012133","MEDDRA:10012725","MEDDRA:10033823","MEDDRA:10038708","SNOMEDCT:64228003","SNOMEDCT:95430002","medgen:19748","HP:0002203"],"information_content":100.0}
{"id":"MONDO:0043786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"serositis","equivalent_identifiers":["MONDO:0043786","UMLS:C0036749","MESH:D012700","MEDDRA:10058556","NCIT:C70428","SNOMEDCT:370469003","medgen:20711","HP:0045073"],"information_content":82.1}
{"id":"MONDO:0043797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal cord injury","equivalent_identifiers":["MONDO:0043797","orphanet:90058","EFO:1001919","UMLS:C0037929","MESH:D013119","MEDDRA:10041552","NCIT:C50750","SNOMEDCT:90584004"],"information_content":95.4}
{"id":"MONDO:0043862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"voice disorders","equivalent_identifiers":["MONDO:0043862","EFO:0009692","UMLS:C0042940","UMLS:C0264600","UMLS:C1527340","UMLS:C1527344","MESH:D014832","MEDDRA:10013952","MEDDRA:10047681","MEDDRA:10047682","MEDDRA:10047683","MEDDRA:10077001","MEDDRA:10077002","NCIT:C3441","NCIT:C86950","SNOMEDCT:16617009","SNOMEDCT:38160000","SNOMEDCT:71941009","medgen:12120","HP:0001618"],"information_content":90.9}
{"id":"MONDO:0043982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cubital tunnel syndrome","equivalent_identifiers":["MONDO:0043982","EFO:1001301","UMLS:C0206239","UMLS:C4023008","MESH:D020430","MEDDRA:10056473","SNOMEDCT:230631009","SNOMEDCT:56177003","medgen:104813","HP:0012186"],"information_content":100.0}
{"id":"MONDO:0044001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, mixed conductive-sensorineural","equivalent_identifiers":["MONDO:0044001","UMLS:C0155552","MESH:D046089","MEDDRA:10027752","MEDDRA:10027753","MEDDRA:10027757","NCIT:C26974","SNOMEDCT:77507001","medgen:102336","HP:0000410"],"information_content":100.0}
{"id":"MONDO:0044037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"livedo reticularis","equivalent_identifiers":["MONDO:0044037","EFO:1001804","UMLS:C0085642","MESH:D054068","MEDDRA:10024648","NCIT:C74524","SNOMEDCT:238772004","medgen:43223","HP:0033505"],"information_content":100.0}
{"id":"MONDO:0044138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyalitis","equivalent_identifiers":["MONDO:0044138","EFO:0008628","UMLS:C0235812","MEDDRA:10047663","MEDDRA:10054835","MEDDRA:10054870","MEDDRA:10054900","MEDDRA:10054901","NCIT:C50587","SNOMEDCT:95802009","medgen:68620","HP:0011531"],"information_content":90.9}
{"id":"MONDO:0044202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic kinesigenic dyskinesia","equivalent_identifiers":["MONDO:0044202","OMIM.PS:128200","orphanet:98809","UMLS:C1868682","medgen:358268"],"information_content":90.9}
{"id":"MONDO:0044203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"foveal hypoplasia","equivalent_identifiers":["MONDO:0044203","OMIM.PS:136520","UMLS:C2673946","UMLS:C4072863","medgen:393047","HP:0007750"],"information_content":87.2}
{"id":"MONDO:0044204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shwachman-Diamond syndrome 1","equivalent_identifiers":["MONDO:0044204","OMIM:260400","UMLS:C4692625","medgen:1640046"],"information_content":100.0}
{"id":"MONDO:0044205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shwachman-Diamond syndrome 2","equivalent_identifiers":["MONDO:0044205","OMIM:617941","UMLS:C4693704","medgen:1634617"],"information_content":100.0}
{"id":"MONDO:0044206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otospondylomegaepiphyseal dysplasia, autosomal recessive","equivalent_identifiers":["MONDO:0044206","OMIM:215150","UMLS:C5551484","medgen:1790497"],"information_content":100.0}
{"id":"MONDO:0044207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"specific granule deficiency 1","equivalent_identifiers":["MONDO:0044207","OMIM:245480","UMLS:C4551556","medgen:1644049"],"information_content":100.0}
{"id":"MONDO:0044208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"specific granule deficiency 2","equivalent_identifiers":["MONDO:0044208","OMIM:617475","UMLS:C4479548","medgen:1371952"],"information_content":100.0}
{"id":"MONDO:0044299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myasthenic syndrome, congenital, 22","equivalent_identifiers":["MONDO:0044299","DOID:0080587","OMIM:616224","UMLS:C4479088","medgen:1393545"],"information_content":100.0}
{"id":"MONDO:0044301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic aneurysm, familial thoracic 11, susceptibility to","inheritance":"Typified by incomplete penetrance","equivalent_identifiers":["MONDO:0044301","OMIM:617349","UMLS:C4479235","medgen:1377970"],"information_content":100.0}
{"id":"MONDO:0044302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder","equivalent_identifiers":["MONDO:0044302","DOID:0112247","OMIM:617360","orphanet:646278","UMLS:C4479246","medgen:1385307"],"information_content":100.0}
{"id":"MONDO:0044303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital heart defects and ectodermal dysplasia","equivalent_identifiers":["MONDO:0044303","OMIM:617364","UMLS:C4479250","medgen:1387409"],"information_content":100.0}
{"id":"MONDO:0044304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperphenylalaninemia due to DNAJC12 deficiency","equivalent_identifiers":["MONDO:0044304","OMIM:617384","orphanet:508523","UMLS:C4479270","NCIT:C159654","medgen:1391882"],"information_content":100.0}
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{"id":"MONDO:0044705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paranasal sinus squamous cell carcinoma","equivalent_identifiers":["MONDO:0044705","orphanet:500464","UMLS:C0280334","MEDDRA:10041864","NCIT:C8193","medgen:79105"],"information_content":84.2}
{"id":"MONDO:0044714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome","equivalent_identifiers":["MONDO:0044714","OMIM:617675","orphanet:502423","UMLS:C4540096","SNOMEDCT:1237514002","medgen:1620960"],"information_content":100.0}
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{"id":"MONDO:0044721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe combined immunodeficiency due to LAT deficiency","equivalent_identifiers":["MONDO:0044721","DOID:0111983","OMIM:617514","orphanet:504523","UMLS:C4479588","SNOMEDCT:1179284005","medgen:1384124"],"information_content":100.0}
{"id":"MONDO:0044723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria type 8","equivalent_identifiers":["MONDO:0044723","DOID:0070000","OMIM:617248","orphanet:505208","UMLS:C4310650","medgen:934617"],"information_content":100.0}
{"id":"MONDO:0044724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria type 9","equivalent_identifiers":["MONDO:0044724","DOID:0070002","OMIM:617698","orphanet:505216","UMLS:C4540171","SNOMEDCT:1222672002","medgen:1622927"],"information_content":100.0}
{"id":"MONDO:0044725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined immunodeficiency due to GINS1 deficiency","equivalent_identifiers":["MONDO:0044725","DOID:0111993","OMIM:617827","orphanet:505227","UMLS:C5568132","SNOMEDCT:1179286007","medgen:1799555"],"information_content":100.0}
{"id":"MONDO:0044726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome","equivalent_identifiers":["MONDO:0044726","OMIM:617595","orphanet:505242","UMLS:C4539828","medgen:1621949"],"information_content":100.0}
{"id":"MONDO:0044737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction","equivalent_identifiers":["MONDO:0044737","DOID:0112349","orphanet:506353","UMLS:C5568576","SNOMEDCT:1186734006","medgen:1799999"],"information_content":100.0}
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{"id":"MONDO:0044742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive epidermolytic ichthyosis","equivalent_identifiers":["MONDO:0044742","orphanet:512103","UMLS:C5437635","SNOMEDCT:890235002","medgen:1725198","icd11.foundation:244597687"],"information_content":95.4}
{"id":"MONDO:0044751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic diarrheal disease","equivalent_identifiers":["MONDO:0044751","UMLS:C0401151","MEDDRA:10066533","MEDDRA:10066534","MEDDRA:10066556","MEDDRA:10066557","SNOMEDCT:236071009","medgen:96036","HP:0002028"],"information_content":95.4}
{"id":"MONDO:0044753","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lumbar spinal stenosis","equivalent_identifiers":["MONDO:0044753","UMLS:C0158288","MEDDRA:10025005","MEDDRA:10041595","MEDDRA:10041597","NCIT:C177445","SNOMEDCT:18347007","medgen:488791","HP:0004610"],"information_content":100.0}
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{"id":"MONDO:0044768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vagus nerve paraganglioma","equivalent_identifiers":["MONDO:0044768","EFO:1000621","UMLS:C0474819","NCIT:C8427","SNOMEDCT:253030004","medgen:141635","HP:0002886"],"information_content":100.0}
{"id":"MONDO:0044776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 10","equivalent_identifiers":["MONDO:0044776","DOID:0080867","OMIM:612885","UMLS:C2752067","UMLS:C4225402","medgen:898849"],"information_content":100.0}
{"id":"MONDO:0044777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 14","equivalent_identifiers":["MONDO:0044777","DOID:0080871","OMIM:618014","UMLS:C4693941","medgen:1646133"],"information_content":100.0}
{"id":"MONDO:0044778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular lymphocyte predominant Hodgkin lymphoma","equivalent_identifiers":["MONDO:0044778","orphanet:86893","UMLS:C1334968","MEDDRA:10080201","NCIT:C7258","medgen:233758","icd11.foundation:331115338"],"information_content":82.6}
{"id":"MONDO:0044792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"large congenital melanocytic nevus","equivalent_identifiers":["MONDO:0044792","DOID:0111359","OMIM:137550","orphanet:626","UMLS:C1318558","UMLS:C1842036","MESH:C536819","MEDDRA:10072036","MEDDRA:10072037","NCIT:C3944","NCIT:C4234","SNOMEDCT:10291008","SNOMEDCT:1260467009","SNOMEDCT:254815002","SNOMEDCT:398696001","SNOMEDCT:398943008","SNOMEDCT:400151006","medgen:330752","icd11.foundation:618273329","HP:0005600"],"information_content":85.5}
{"id":"MONDO:0044843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"torsion dystonia","equivalent_identifiers":["MONDO:0044843","UMLS:C0013423","SNOMEDCT:431034009","medgen:3941","HP:0001304"],"information_content":95.4}
{"id":"MONDO:0044871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia, focal, task-specific","equivalent_identifiers":["MONDO:0044871","OMIM:611284","UMLS:C1969807","UMLS:C2749929","MESH:C566973","MEDDRA:10072250","SNOMEDCT:230330004","medgen:370752"],"information_content":100.0}
{"id":"MONDO:0044872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysautonomia","equivalent_identifiers":["MONDO:0044872","UMLS:C0013363","UMLS:C4022952","MEDDRA:10013889","NCIT:C53439","medgen:8511","HP:0012332"],"information_content":72.1}
{"id":"MONDO:0044877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paraneoplastic cerebellar degeneration","equivalent_identifiers":["MONDO:0044877","orphanet:623626","UMLS:C0393534","MESH:D020362","MEDDRA:10048705","NCIT:C4685","medgen:98273","icd11.foundation:1087616692"],"information_content":90.9}
{"id":"MONDO:0044903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myelofibrosis","equivalent_identifiers":["MONDO:0044903","UMLS:C0026987","MEDDRA:10028537","MEDDRA:10028580","MEDDRA:10028581","MEDDRA:10028583","MEDDRA:10077183","NCIT:C3248","SNOMEDCT:52967002","medgen:10146","HP:0011974"],"information_content":83.6}
{"id":"MONDO:0045048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxemia of pregnancy","equivalent_identifiers":["MONDO:0045048","UMLS:C4551893","MEDDRA:10044130","MEDDRA:10044133","NCIT:C34943","medgen:1638686","HP:0100603"],"information_content":84.2}
{"id":"MONDO:0045050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nuclear cataract","equivalent_identifiers":["MONDO:0045050","UMLS:C0392557","UMLS:C1112705","MEDDRA:10007759","MEDDRA:10029813","MEDDRA:10057735","NCIT:C135176","SNOMEDCT:359766000","SNOMEDCT:53889007","medgen:140274","icd11.foundation:2020818341","HP:0100018"],"information_content":88.2}
{"id":"MONDO:0045051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortical cataract","equivalent_identifiers":["MONDO:0045051","UMLS:C0271160","MEDDRA:10007748","MEDDRA:10011167","NCIT:C135177","SNOMEDCT:193576003","medgen:82868","icd11.foundation:1118806999","HP:0100019"],"information_content":89.4}
{"id":"MONDO:0045057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"delirium","equivalent_identifiers":["MONDO:0045057","EFO:0009267","UMLS:C0011206","UMLS:C0029221","UMLS:C1285577","UMLS:C1306588","MESH:D003693","MEDDRA:10000685","MEDDRA:10000693","MEDDRA:10000694","MEDDRA:10000702","MEDDRA:10006150","MEDDRA:10012217","MEDDRA:10012218","MEDDRA:10012219","MEDDRA:10031077","MEDDRA:10042790","NCIT:C2981","NCIT:C34868","SNOMEDCT:130987000","SNOMEDCT:2776000","SNOMEDCT:419567006","medgen:41445","icd11.foundation:897917531","HP:0031258"],"information_content":90.9}
{"id":"MONDO:0049221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopia 26, X-linked, female-limited","inheritance":"X-linked inheritance","equivalent_identifiers":["MONDO:0049221","OMIM:301010","UMLS:C4538795","medgen:1618364"],"information_content":100.0}
{"id":"MONDO:0049222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, X-linked 107","equivalent_identifiers":["MONDO:0049222","DOID:0112054","OMIM:301013","UMLS:C4692652","medgen:1639885"],"information_content":100.0}
{"id":"MONDO:0049223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta, type 19","equivalent_identifiers":["MONDO:0049223","DOID:0111847","OMIM:301014","UMLS:C4746956","NCIT:C164153","medgen:1648353"],"information_content":100.0}
{"id":"MONDO:0054549","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroxisome biogenesis disorder 10B","equivalent_identifiers":["MONDO:0054549","DOID:0081440","OMIM:617370","UMLS:C4479254","medgen:1379481"],"information_content":100.0}
{"id":"MONDO:0054550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"avascular necrosis of femoral head, primary, 1","equivalent_identifiers":["MONDO:0054550","OMIM:608805","UMLS:C0410480","UMLS:C4551562","MEDDRA:10003860","NCIT:C35447","SNOMEDCT:203476003","medgen:1639295"],"information_content":100.0}
{"id":"MONDO:0054551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"avascular necrosis of femoral head, primary, 2","equivalent_identifiers":["MONDO:0054551","OMIM:617383","UMLS:C4479260","medgen:1386338"],"information_content":100.0}
{"id":"MONDO:0054559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type IIq","equivalent_identifiers":["MONDO:0054559","DOID:0070269","OMIM:617395","orphanet:435934","UMLS:C4479353","SNOMEDCT:1197753005","medgen:1390458"],"information_content":100.0}
{"id":"MONDO:0054560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anauxetic dysplasia 1","equivalent_identifiers":["MONDO:0054560","DOID:0050640","OMIM:607095","UMLS:C4551965","medgen:1638106"],"information_content":100.0}
{"id":"MONDO:0054561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anauxetic dysplasia 2","equivalent_identifiers":["MONDO:0054561","DOID:0080962","OMIM:617396","UMLS:C4479357","medgen:1384439"],"information_content":100.0}
{"id":"MONDO:0054565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short-rib thoracic dysplasia 17 with or without polydactyly","equivalent_identifiers":["MONDO:0054565","OMIM:617405","UMLS:C4479416","medgen:1372794"],"information_content":100.0}
{"id":"MONDO:0054573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lopes-Maciel-Rodan syndrome","equivalent_identifiers":["MONDO:0054573","OMIM:617435","EFO:0009904","UMLS:C4479491","medgen:1379711"],"information_content":100.0}
{"id":"MONDO:0054577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bleeding disorder, platelet-type, 21","equivalent_identifiers":["MONDO:0054577","OMIM:617443","UMLS:C4479515","medgen:1386863"],"information_content":100.0}
{"id":"MONDO:0054581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Townes-Brocks syndrome 1","equivalent_identifiers":["MONDO:0054581","OMIM:107480","UMLS:C1862683","UMLS:C4551481","MESH:C566272","medgen:1635275"],"information_content":100.0}
{"id":"MONDO:0054582","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Townes-Brocks syndrome 2","equivalent_identifiers":["MONDO:0054582","OMIM:617466","UMLS:C4479534","medgen:1381939"],"information_content":100.0}
{"id":"MONDO:0054588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome-like disorder with loose anagen hair 2","equivalent_identifiers":["MONDO:0054588","DOID:0080693","OMIM:617506","UMLS:C4479577","NCIT:C176940","medgen:1376945"],"information_content":100.0}
{"id":"MONDO:0054591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stankiewicz-Isidor syndrome","equivalent_identifiers":["MONDO:0054591","OMIM:617516","UMLS:C4479599","medgen:1375936"],"information_content":100.0}
{"id":"MONDO:0054593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 18, primary, autosomal dominant","equivalent_identifiers":["MONDO:0054593","DOID:0070295","OMIM:617520","UMLS:C4479608","medgen:1391110"],"information_content":100.0}
{"id":"MONDO:0054601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary adenoma 5, multiple types","equivalent_identifiers":["MONDO:0054601","DOID:0112008","OMIM:617540","UMLS:C4539685","medgen:1615593"],"information_content":100.0}
{"id":"MONDO:0054602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gaze palsy, familial horizontal, with progressive scoliosis, 2","equivalent_identifiers":["MONDO:0054602","OMIM:617542","UMLS:C4479640","medgen:1393733"],"information_content":100.0}
{"id":"MONDO:0054615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 18","equivalent_identifiers":["MONDO:0054615","DOID:0070165","OMIM:617576","UMLS:C4539783","medgen:1617309"],"information_content":100.0}
{"id":"MONDO:0054636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skraban-Deardorff syndrome","equivalent_identifiers":["MONDO:0054636","OMIM:617616","orphanet:513456","UMLS:C4539927","SNOMEDCT:1177167002","medgen:1627555"],"information_content":100.0}
{"id":"MONDO:0054637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Noonan syndrome-like disorder with loose anagen hair 1","equivalent_identifiers":["MONDO:0054637","DOID:0080692","OMIM:607721","UMLS:C4478716","NCIT:C176939","medgen:1379805"],"information_content":100.0}
{"id":"MONDO:0054654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 32","equivalent_identifiers":["MONDO:0054654","DOID:0111492","OMIM:617664","UMLS:C4540029","medgen:1617600"],"information_content":100.0}
{"id":"MONDO:0054665","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary adenoma 3, multiple types","equivalent_identifiers":["MONDO:0054665","DOID:0112010","OMIM:617686","UMLS:C4540135","medgen:1620824"],"information_content":100.0}
{"id":"MONDO:0054666","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian dysgenesis 5","equivalent_identifiers":["MONDO:0054666","DOID:0080497","OMIM:617690","UMLS:C4540141","medgen:1627972"],"information_content":100.0}
{"id":"MONDO:0054669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia, type 11","equivalent_identifiers":["MONDO:0054669","DOID:0112324","OMIM:617695","orphanet:611247","UMLS:C4540164","medgen:1627627"],"information_content":100.0}
{"id":"MONDO:0054677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 33","equivalent_identifiers":["MONDO:0054677","DOID:0111495","OMIM:617713","EFO:0009159","UMLS:C4540209","NCIT:C174440","medgen:1623699"],"information_content":100.0}
{"id":"MONDO:0054680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiphyseal dysplasia, multiple, 7","equivalent_identifiers":["MONDO:0054680","DOID:0070302","OMIM:617719","orphanet:647676","UMLS:C4540251","medgen:1620874"],"information_content":100.0}
{"id":"MONDO:0054695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, centronuclear, 6, with fiber-type disproportion","equivalent_identifiers":["MONDO:0054695","DOID:0111221","OMIM:617760","UMLS:C4540345","medgen:1627492"],"information_content":100.0}
{"id":"MONDO:0054696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 53","equivalent_identifiers":["MONDO:0054696","DOID:0111992","OMIM:617585","orphanet:688594","UMLS:C4539811","medgen:1612104"],"information_content":100.0}
{"id":"MONDO:0054697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 11b with atopic dermatitis","equivalent_identifiers":["MONDO:0054697","DOID:0111958","OMIM:617638","UMLS:C4539957","NCIT:C176630","medgen:1627819"],"information_content":100.0}
{"id":"MONDO:0054698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CANDLE syndrome","equivalent_identifiers":["MONDO:0054698","OMIM:256040","UMLS:C4746851","UMLS:C4749059","MEDDRA:10073960","MEDDRA:10073961","NCIT:C176619","medgen:1648310"],"information_content":100.0}
{"id":"MONDO:0054699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proteasome-associated autoinflammatory syndrome 3","equivalent_identifiers":["MONDO:0054699","DOID:0060916","OMIM:617591","UMLS:C4747850","UMLS:C4749149","medgen:1648456"],"information_content":100.0}
{"id":"MONDO:0054700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proteasome-associated autoinflammatory syndrome 2","equivalent_identifiers":["MONDO:0054700","DOID:0060914","OMIM:618048","UMLS:C4747989","medgen:1648482"],"information_content":100.0}
{"id":"MONDO:0054701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kleefstra syndrome 2","inheritance":"Autosomal dominant germline de novo mutation","equivalent_identifiers":["MONDO:0054701","DOID:0080598","OMIM:617768","UMLS:C4540395","medgen:1623903"],"information_content":100.0}
{"id":"MONDO:0054708","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 80","equivalent_identifiers":["MONDO:0054708","DOID:0061111","OMIM:617781","UMLS:C4540439","medgen:1619674"],"information_content":100.0}
{"id":"MONDO:0054716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 19, primary, autosomal recessive","equivalent_identifiers":["MONDO:0054716","DOID:0070281","OMIM:617800","UMLS:C4540488","medgen:1616860"],"information_content":100.0}
{"id":"MONDO:0054722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"geleophysic dysplasia 3","equivalent_identifiers":["MONDO:0054722","DOID:0111727","OMIM:617809","UMLS:C4540511","medgen:1615724"],"information_content":100.0}
{"id":"MONDO:0054723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 19","equivalent_identifiers":["MONDO:0054723","DOID:0070170","OMIM:617592","UMLS:C4539818","medgen:1614356"],"information_content":100.0}
{"id":"MONDO:0054724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 20","equivalent_identifiers":["MONDO:0054724","DOID:0070166","OMIM:617593","UMLS:C4539824","medgen:1621256"],"information_content":100.0}
{"id":"MONDO:0054725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 21","equivalent_identifiers":["MONDO:0054725","DOID:0070163","OMIM:617644","UMLS:C4539991","medgen:1617056"],"information_content":100.0}
{"id":"MONDO:0054726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 22","equivalent_identifiers":["MONDO:0054726","DOID:0070177","OMIM:617706","UMLS:C4540179","medgen:1618089"],"information_content":100.0}
{"id":"MONDO:0054727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 23","equivalent_identifiers":["MONDO:0054727","DOID:0070181","OMIM:617707","UMLS:C4540185","medgen:1626589"],"information_content":100.0}
{"id":"MONDO:0054728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 24","equivalent_identifiers":["MONDO:0054728","DOID:0111929","OMIM:617959","UMLS:C4693751","medgen:1646063"],"information_content":100.0}
{"id":"MONDO:0054729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 25","equivalent_identifiers":["MONDO:0054729","DOID:0111920","OMIM:617960","UMLS:C4693765","medgen:1646677"],"information_content":100.0}
{"id":"MONDO:0054730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 26","equivalent_identifiers":["MONDO:0054730","DOID:0111924","OMIM:617961","UMLS:C4693773","medgen:1644751"],"information_content":100.0}
{"id":"MONDO:0054731","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 27","equivalent_identifiers":["MONDO:0054731","DOID:0111928","OMIM:617965","UMLS:C4693784","medgen:1634748"],"information_content":100.0}
{"id":"MONDO:0054732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 28","equivalent_identifiers":["MONDO:0054732","DOID:0111916","OMIM:618086","UMLS:C4748117","medgen:1648494"],"information_content":100.0}
{"id":"MONDO:0054733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 29","equivalent_identifiers":["MONDO:0054733","DOID:0111930","OMIM:618091","UMLS:C4748142","medgen:1648499"],"information_content":100.0}
{"id":"MONDO:0054737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fraser syndrome 1","equivalent_identifiers":["MONDO:0054737","DOID:0111405","OMIM:219000","UMLS:C4551480","medgen:1639061"],"information_content":100.0}
{"id":"MONDO:0054738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fraser syndrome 2","equivalent_identifiers":["MONDO:0054738","DOID:0111407","OMIM:617666","UMLS:C4540036","medgen:1624349"],"information_content":100.0}
{"id":"MONDO:0054739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fraser syndrome 3","equivalent_identifiers":["MONDO:0054739","DOID:0111406","OMIM:617667","UMLS:C4540040","medgen:1621907"],"information_content":100.0}
{"id":"MONDO:0054740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharocheilodontic syndrome 1","equivalent_identifiers":["MONDO:0054740","DOID:0080345","OMIM:119580","UMLS:C4551988","medgen:1632198"],"information_content":100.0}
{"id":"MONDO:0054741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 34","equivalent_identifiers":["MONDO:0054741","DOID:0111497","OMIM:617872","orphanet:457223","UMLS:C4693450","SNOMEDCT:1260133007","medgen:1631307"],"information_content":100.0}
{"id":"MONDO:0054742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 35","equivalent_identifiers":["MONDO:0054742","DOID:0111464","OMIM:617873","UMLS:C4693466","medgen:1639653"],"information_content":100.0}
{"id":"MONDO:0054743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic liver disease 3 with or without kidney cysts","equivalent_identifiers":["MONDO:0054743","DOID:0060976","OMIM:617874","UMLS:C4693472","medgen:1646969"],"information_content":100.0}
{"id":"MONDO:0054748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia, complementation group S","equivalent_identifiers":["MONDO:0054748","DOID:0060979","OMIM:617883","UMLS:C4554406","medgen:1632414"],"information_content":100.0}
{"id":"MONDO:0054750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis, susceptibility to, 24","equivalent_identifiers":["MONDO:0054750","DOID:0081378","OMIM:617892","UMLS:C4693523","medgen:1632999"],"information_content":100.0}
{"id":"MONDO:0054752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple synostoses syndrome 4","equivalent_identifiers":["MONDO:0054752","DOID:0081320","OMIM:617898","UMLS:C4693531","medgen:1638842"],"information_content":100.0}
{"id":"MONDO:0054754","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8","equivalent_identifiers":["MONDO:0054754","OMIM:617900","UMLS:C4693542","medgen:1646997"],"information_content":100.0}
{"id":"MONDO:0054761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 20, primary, autosomal recessive","equivalent_identifiers":["MONDO:0054761","DOID:0051031","OMIM:617914","UMLS:C4693572","medgen:1641618"],"information_content":100.0}
{"id":"MONDO:0054763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration with brain iron accumulation 7","equivalent_identifiers":["MONDO:0054763","OMIM:617916","UMLS:C4693583","medgen:1647672"],"information_content":100.0}
{"id":"MONDO:0054764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration with brain iron accumulation 8","equivalent_identifiers":["MONDO:0054764","OMIM:617917","UMLS:C4693587","medgen:1645224"],"information_content":100.0}
{"id":"MONDO:0054765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyloidosis, primary localized cutaneous, 3","equivalent_identifiers":["MONDO:0054765","OMIM:617920","UMLS:C4554421","medgen:1640641"],"information_content":100.0}
{"id":"MONDO:0054770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome 18","equivalent_identifiers":["MONDO:0054770","DOID:0060961","OMIM:617927","orphanet:508501","UMLS:C5567903","SNOMEDCT:1177179002","medgen:1799326"],"information_content":100.0}
{"id":"MONDO:0054771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratoconus 9","equivalent_identifiers":["MONDO:0054771","OMIM:617928","UMLS:C4693660","medgen:1645093"],"information_content":100.0}
{"id":"MONDO:0054776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial focal, with variable foci 4","equivalent_identifiers":["MONDO:0054776","DOID:0081424","OMIM:617935","UMLS:C4693694","medgen:1644614"],"information_content":100.0}
{"id":"MONDO:0054780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"elliptocytosis 3","equivalent_identifiers":["MONDO:0054780","OMIM:617948","UMLS:C1866810","UMLS:C4016380","MESH:C566678","medgen:357139"],"information_content":100.0}
{"id":"MONDO:0054781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 36","equivalent_identifiers":["MONDO:0054781","DOID:0111482","OMIM:617950","UMLS:C4693722","medgen:1644927"],"information_content":100.0}
{"id":"MONDO:0054782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukodystrophy, hypomyelinating, 15","equivalent_identifiers":["MONDO:0054782","DOID:0070398","OMIM:617951","UMLS:C4693733","medgen:1633653"],"information_content":100.0}
{"id":"MONDO:0054785","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple mitochondrial dysfunctions syndrome 6","equivalent_identifiers":["MONDO:0054785","DOID:0070332","OMIM:617954","orphanet:569290","UMLS:C4693741","SNOMEDCT:1279891002","medgen:1643082"],"information_content":100.0}
{"id":"MONDO:0054791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukodystrophy, hypomyelinating, 16","equivalent_identifiers":["MONDO:0054791","DOID:0070405","OMIM:617964","UMLS:C4693779","medgen:1631337"],"information_content":100.0}
{"id":"MONDO:0054794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrocephalus, congenital, 3, with brain anomalies","equivalent_identifiers":["MONDO:0054794","OMIM:617967","UMLS:C4747885","medgen:1648319"],"information_content":100.0}
{"id":"MONDO:0054801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrocytosis, familial, 6","equivalent_identifiers":["MONDO:0054801","DOID:0111632","OMIM:617980","UMLS:C4693822","medgen:1634191"],"information_content":100.0}
{"id":"MONDO:0054802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrocytosis, familial, 7","equivalent_identifiers":["MONDO:0054802","DOID:0111631","OMIM:617981","UMLS:C4693823","medgen:1642594"],"information_content":100.0}
{"id":"MONDO:0054804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 21, primary, autosomal recessive","equivalent_identifiers":["MONDO:0054804","DOID:0051032","OMIM:617983","UMLS:C4693831","medgen:1646916"],"information_content":100.0}
{"id":"MONDO:0054805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 22, primary, autosomal recessive","equivalent_identifiers":["MONDO:0054805","DOID:0051033","OMIM:617984","UMLS:C4693834","medgen:1635688"],"information_content":100.0}
{"id":"MONDO:0054806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcephaly 23, primary, autosomal recessive","equivalent_identifiers":["MONDO:0054806","DOID:0051034","OMIM:617985","UMLS:C4693843","medgen:1631589"],"information_content":100.0}
{"id":"MONDO:0054813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome, classic-like, 2","equivalent_identifiers":["MONDO:0054813","DOID:0080732","OMIM:618000","orphanet:536532","UMLS:C4693870","SNOMEDCT:1255121003","medgen:1632001"],"information_content":100.0}
{"id":"MONDO:0054817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukodystrophy, hypomyelinating, 17","equivalent_identifiers":["MONDO:0054817","DOID:0070404","OMIM:618006","UMLS:C4693912","medgen:1644557"],"information_content":100.0}
{"id":"MONDO:0054831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Coffin-Siris syndrome 7","equivalent_identifiers":["MONDO:0054831","DOID:0112369","OMIM:618027","UMLS:C4747954","medgen:1648281"],"information_content":100.0}
{"id":"MONDO:0054832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal dystrophy, posterior polymorphous, 4","equivalent_identifiers":["MONDO:0054832","DOID:0080669","OMIM:618031","UMLS:C4747961","medgen:1648359"],"information_content":100.0}
{"id":"MONDO:0054833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-tooth disease, axonal, type 2DD","equivalent_identifiers":["MONDO:0054833","DOID:0111558","OMIM:618036","orphanet:521414","UMLS:C4747974","SNOMEDCT:1187620007","medgen:1648475"],"information_content":100.0}
{"id":"MONDO:0054835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"classic dopamine transporter deficiency syndrome","equivalent_identifiers":["MONDO:0054835","DOID:0070489","OMIM:613135","UMLS:C5700336","NCIT:C129866","SNOMEDCT:722763000","medgen:1814585"],"information_content":100.0}
{"id":"MONDO:0054837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability, autosomal dominant 57","equivalent_identifiers":["MONDO:0054837","DOID:0061031","OMIM:618050","UMLS:C4748003","medgen:1648280"],"information_content":100.0}
{"id":"MONDO:0054838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, familial hypertrophic 27","equivalent_identifiers":["MONDO:0054838","DOID:0061102","OMIM:618052","UMLS:C4748014","NCIT:C179054","medgen:1648325"],"information_content":100.0}
{"id":"MONDO:0054842","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycystic kidney disease 6 with or without polycystic liver disease","equivalent_identifiers":["MONDO:0054842","DOID:0060951","OMIM:618061","UMLS:C4748044","medgen:1648469"],"information_content":100.0}
{"id":"MONDO:0054843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary dyskinesia, primary, 38","equivalent_identifiers":["MONDO:0054843","DOID:0111852","OMIM:618063","UMLS:C4748052","medgen:1648465"],"information_content":100.0}
{"id":"MONDO:0054844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia, type 1D","equivalent_identifiers":["MONDO:0054844","DOID:0112323","OMIM:618065","UMLS:C4748058","medgen:1648387"],"information_content":100.0}
{"id":"MONDO:0054845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy, 66","equivalent_identifiers":["MONDO:0054845","DOID:0080446","OMIM:618067","UMLS:C4748070","NCIT:C198576","medgen:1648486"],"information_content":100.0}
{"id":"MONDO:0054846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial adult myoclonic, 6","equivalent_identifiers":["MONDO:0054846","DOID:0111696","OMIM:618074","UMLS:C4748079","medgen:1648448"],"information_content":100.0}
{"id":"MONDO:0054847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial adult myoclonic, 7","equivalent_identifiers":["MONDO:0054847","DOID:0111694","OMIM:618075","UMLS:C4748080","medgen:1648435"],"information_content":100.0}
{"id":"MONDO:0054849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 29","equivalent_identifiers":["MONDO:0054849","DOID:0112155","OMIM:618077","UMLS:C4748083","medgen:1648318"],"information_content":100.0}
{"id":"MONDO:0054850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian dysgenesis 6","equivalent_identifiers":["MONDO:0054850","DOID:0080498","OMIM:618078","UMLS:C4748084","medgen:1648307"],"information_content":100.0}
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{"id":"MONDO:0060507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal dystrophy with or without macular staphyloma","equivalent_identifiers":["MONDO:0060507","OMIM:617547","orphanet:653709","UMLS:C4479651","medgen:1381980"],"information_content":100.0}
{"id":"MONDO:0060510","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cohen-Gibson syndrome","equivalent_identifiers":["MONDO:0060510","OMIM:617561","orphanet:659396","UMLS:C4479654","medgen:1386939"],"information_content":100.0}
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{"id":"MONDO:0060532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital heart defects and skeletal malformations syndrome","equivalent_identifiers":["MONDO:0060532","OMIM:617602","orphanet:643503","UMLS:C4539857","medgen:1618340"],"information_content":100.0}
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{"id":"MONDO:0060564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HELIX syndrome","equivalent_identifiers":["MONDO:0060564","OMIM:617671","orphanet:528105","UMLS:C4522164","SNOMEDCT:1217380005","medgen:1621482"],"information_content":100.0}
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{"id":"MONDO:0060707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ververi-Brady syndrome","equivalent_identifiers":["MONDO:0060707","OMIM:617982","orphanet:580940","UMLS:C4693824","SNOMEDCT:1220568003","medgen:1647785"],"information_content":100.0}
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{"id":"MONDO:0060714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tumoral calcinosis, hyperphosphatemic, familial, 2","equivalent_identifiers":["MONDO:0060714","OMIM:617993","EFO:0009383","UMLS:C4693863","medgen:1640532"],"information_content":100.0}
{"id":"MONDO:0060715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tumoral calcinosis, hyperphosphatemic, familial, 3","equivalent_identifiers":["MONDO:0060715","OMIM:617994","EFO:0009384","UMLS:C4693864","medgen:1638917"],"information_content":100.0}
{"id":"MONDO:0060724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glycosylphosphatidylinositol biosynthesis defect 17","equivalent_identifiers":["MONDO:0060724","OMIM:618010","UMLS:C4747891","medgen:1648437"],"information_content":100.0}
{"id":"MONDO:0060729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"protoporphyria, erythropoietic, 2","equivalent_identifiers":["MONDO:0060729","OMIM:618015","UMLS:C4693947","medgen:1645733"],"information_content":100.0}
{"id":"MONDO:0060732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetraamelia syndrome 2","equivalent_identifiers":["MONDO:0060732","DOID:0112193","OMIM:618021","UMLS:C4747923","medgen:1648284"],"information_content":100.0}
{"id":"MONDO:0060733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"humerofemoral hypoplasia with radiotibial ray deficiency","equivalent_identifiers":["MONDO:0060733","OMIM:618022","UMLS:C4747940","medgen:1648393"],"information_content":100.0}
{"id":"MONDO:0060745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder with or without epilepsy or cerebellar ataxia","equivalent_identifiers":["MONDO:0060745","OMIM:618060","UMLS:C4748041","medgen:1648354"],"information_content":100.0}
{"id":"MONDO:0060752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with spasticity and poor growth","equivalent_identifiers":["MONDO:0060752","DOID:0070421","OMIM:618076","UMLS:C4748081","medgen:1648309"],"information_content":100.0}
{"id":"MONDO:0060758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits","equivalent_identifiers":["MONDO:0060758","OMIM:618087","UMLS:C4748120","medgen:1648308"],"information_content":100.0}
{"id":"MONDO:0060759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures","equivalent_identifiers":["MONDO:0060759","DOID:0081327","OMIM:618088","orphanet:597623","UMLS:C4748127","medgen:1648345"],"information_content":100.0}
{"id":"MONDO:0060760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder with dysmorphic facies and behavioral abnormalities","equivalent_identifiers":["MONDO:0060760","DOID:0061129","OMIM:618089","UMLS:C4748135","medgen:1648498"],"information_content":100.0}
{"id":"MONDO:0060761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum","equivalent_identifiers":["MONDO:0060761","OMIM:618090","UMLS:C4748137","medgen:1648487"],"information_content":100.0}
{"id":"MONDO:0060763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities","equivalent_identifiers":["MONDO:0060763","OMIM:618092","orphanet:662829","UMLS:C4748152","medgen:1648327"],"information_content":100.0}
{"id":"MONDO:0060764","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetraamelia syndrome 1","equivalent_identifiers":["MONDO:0060764","DOID:0112192","OMIM:273395","UMLS:C4012268","medgen:860705"],"information_content":100.0}
{"id":"MONDO:0060778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult Fanconi syndrome","equivalent_identifiers":["MONDO:0060778","UMLS:C0341703","NCIT:C4377","SNOMEDCT:236468006","SNOMEDCT:44673006","medgen:137960","HP:0001994"],"information_content":100.0}
{"id":"MONDO:0100003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"susceptibility to angioedema induced by ACE inhibitors","equivalent_identifiers":["MONDO:0100003","OMIM:300909","UMLS:C3806711","medgen:813041"],"information_content":100.0}
{"id":"MONDO:0100038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex neurodevelopmental disorder","equivalent_identifiers":["MONDO:0100038","orphanet:528084","UMLS:C5568766","SNOMEDCT:1187038009","medgen:1800189"],"information_content":64.8}
{"id":"MONDO:0100040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FOXG1 disorder","equivalent_identifiers":["MONDO:0100040","OMIM:613454","orphanet:561854","orphanet:598164","UMLS:C3150705","NCIT:C176903","SNOMEDCT:702450004"],"information_content":100.0}
{"id":"MONDO:0100042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac conduction defect","equivalent_identifiers":["MONDO:0100042","OMIM:115080","EFO:0004278","UMLS:C0085298","UMLS:C1861884","MESH:C566172","MESH:D016757","MEDDRA:10049418","NCIT:C50911","SNOMEDCT:95281009","medgen:78114","HP:0001645"],"information_content":92.8}
{"id":"MONDO:0100044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrofrontofacionasal dysostosis 1","equivalent_identifiers":["MONDO:0100044","OMIM:201180","UMLS:C4551987","MESH:C538186","medgen:1632008"],"information_content":100.0}
{"id":"MONDO:0100045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermodysplasia verruciformis, susceptibility to, 1","equivalent_identifiers":["MONDO:0100045","OMIM:226400","UMLS:C4722564","medgen:1648341"],"information_content":100.0}
{"id":"MONDO:0100046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exfoliation syndrome, susceptibility to","equivalent_identifiers":["MONDO:0100046","OMIM:177650","UMLS:C4016255","medgen:864692"],"information_content":100.0}
{"id":"MONDO:0100048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"graft-versus-host disease, susceptibility to","equivalent_identifiers":["MONDO:0100048","OMIM:614395","UMLS:C3280677","UMLS:C3280678","medgen:482307"],"information_content":100.0}
{"id":"MONDO:0100053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anaphylaxis","equivalent_identifiers":["MONDO:0100053","UMLS:C0002792","UMLS:C4316895","MESH:D000707","MEDDRA:10002198","MEDDRA:10002199","MEDDRA:10002218","MEDDRA:10042930","MEDDRA:10042931","MEDDRA:10069526","NCIT:C107101","NCIT:C50460","SNOMEDCT:39579001","SNOMEDCT:735173007","medgen:1373755","icd11.foundation:1868068711","HP:0100845"],"information_content":87.2}
{"id":"MONDO:0100058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypervalinemia and hyperleucine-isoleucinemia","equivalent_identifiers":["MONDO:0100058","DOID:0060950","OMIM:618850","UMLS:C5394277","medgen:1719306"],"information_content":100.0}
{"id":"MONDO:0100073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"methicillin-resistant staphylococcus aureus infectious disease","equivalent_identifiers":["MONDO:0100073","EFO:0008555","UMLS:C0343401","MEDDRA:10021839","MEDDRA:10027508","MEDDRA:10069145","NCIT:C115248","SNOMEDCT:266096002","medgen:575565","HP:0032326"],"information_content":95.4}
{"id":"MONDO:0100077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital alveolar dysplasia","equivalent_identifiers":["MONDO:0100077","UMLS:C0035220","MESH:D012127","MEDDRA:10013494","MEDDRA:10021735","MEDDRA:10028974","MEDDRA:10038690","MEDDRA:10038692","MEDDRA:10038693","MEDDRA:10042608","MEDDRA:10042840","medgen:20539","HP:0033210"],"information_content":92.8}
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{"id":"MONDO:0100082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LEOPARD syndrome 1","equivalent_identifiers":["MONDO:0100082","DOID:0080548","OMIM:151100","UMLS:C4551484","medgen:1631694"],"information_content":100.0}
{"id":"MONDO:0100092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonus, familial, 2","equivalent_identifiers":["MONDO:0100092","OMIM:618364","UMLS:C5193056","medgen:1683864"],"information_content":100.0}
{"id":"MONDO:0100093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonus, familial, 1","equivalent_identifiers":["MONDO:0100093","OMIM:614937","UMLS:C3539916","medgen:761667"],"information_content":100.0}
{"id":"MONDO:0100095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures","equivalent_identifiers":["MONDO:0100095","DOID:0070352","OMIM:618170","UMLS:C4748527","medgen:1648391"],"information_content":100.0}
{"id":"MONDO:0100101","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal akinesia deformation sequence 1","equivalent_identifiers":["MONDO:0100101","DOID:0111377","OMIM:208150","orphanet:994","medgen:220903"],"information_content":100.0}
{"id":"MONDO:0100102","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal akinesia deformation sequence 2","equivalent_identifiers":["MONDO:0100102","DOID:0111378","OMIM:618388","UMLS:C4760576","medgen:1678048"],"information_content":100.0}
{"id":"MONDO:0100103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal akinesia deformation sequence 3","equivalent_identifiers":["MONDO:0100103","DOID:0111376","OMIM:618389","UMLS:C4760599","medgen:1680087"],"information_content":100.0}
{"id":"MONDO:0100104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal akinesia deformation sequence 4","equivalent_identifiers":["MONDO:0100104","DOID:0111379","OMIM:618393","UMLS:C4760578","medgen:1675450"],"information_content":100.0}
{"id":"MONDO:0100105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain small vessel disease 3","equivalent_identifiers":["MONDO:0100105","DOID:0112315","OMIM:618360","EFO:0008493","UMLS:C2733158","UMLS:C5193053","MESH:D059345","MEDDRA:10067466","MEDDRA:10086408","SNOMEDCT:443929000","medgen:1677948"],"information_content":100.0}
{"id":"MONDO:0100111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal segmental glomerulosclerosis and neurodevelopmental syndrome","equivalent_identifiers":["MONDO:0100111","OMIM:619428","UMLS:C5561938","medgen:1794148"],"information_content":100.0}
{"id":"MONDO:0100119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Knobloch syndrome 2","equivalent_identifiers":["MONDO:0100119","OMIM:618458","UMLS:C5676897","medgen:1812153"],"information_content":100.0}
{"id":"MONDO:0100130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult acute respiratory distress syndrome","equivalent_identifiers":["MONDO:0100130","DOID:11394","orphanet:70578","UMLS:C0035222","UMLS:C0852283","UMLS:C1368020","UMLS:C4281993","MESH:D012128","MEDDRA:10000036","MEDDRA:10001052","MEDDRA:10001407","MEDDRA:10001409","MEDDRA:10001410","MEDDRA:10003083","MEDDRA:10028973","MEDDRA:10038688","MEDDRA:10038691","MEDDRA:10040579","MEDDRA:10042787","MEDDRA:10042839","SNOMEDCT:1179627006","SNOMEDCT:196153002","SNOMEDCT:67782005","medgen:20540","icd11.foundation:1466842111","ICD10:J80","HP:0002643"],"information_content":92.8}
{"id":"MONDO:0100131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pediatric acute respiratory distress syndrome","equivalent_identifiers":["MONDO:0100131","orphanet:685082"],"information_content":92.8}
{"id":"MONDO:0100133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex I deficiency","equivalent_identifiers":["MONDO:0100133","DOID:0060536","orphanet:2609","UMLS:C1838979","MESH:C537475","SNOMEDCT:237988006","medgen:374101"],"information_content":75.2}
{"id":"MONDO:0100151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephropathic cystinosis","equivalent_identifiers":["MONDO:0100151","OMIM:219800","UMLS:C2749685","UMLS:C2930877","UMLS:C2931187","MESH:C535335","MEDDRA:10071112","NCIT:C129932","medgen:419735","icd11.foundation:810546659"],"information_content":92.8}
{"id":"MONDO:0100156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Imerslund-Grasbeck syndrome type 1","equivalent_identifiers":["MONDO:0100156","OMIM:261100","UMLS:C4016819","NCIT:C131677","medgen:865256"],"information_content":100.0}
{"id":"MONDO:0100157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Imerslund-Grasbeck syndrome type 2","equivalent_identifiers":["MONDO:0100157","OMIM:618882","UMLS:C4016948","medgen:865385"],"information_content":100.0}
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{"id":"MONDO:0100165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"permanent neonatal diabetes mellitus 1","equivalent_identifiers":["MONDO:0100165","OMIM:606176","UMLS:C5393570","medgen:1717586"],"information_content":100.0}
{"id":"MONDO:0100177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"allergic rhinitis, susceptibility to","equivalent_identifiers":["MONDO:0100177","OMIM:607154","UMLS:C4017540","medgen:865977"],"information_content":100.0}
{"id":"MONDO:0100180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetes mellitus, ketosis-prone","equivalent_identifiers":["MONDO:0100180","OMIM:612227","UMLS:C3837958","MEDDRA:10023392","SNOMEDCT:890171006","medgen:1381503"],"information_content":100.0}
{"id":"MONDO:0100183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radioulnar synostosis, nonsyndromic, susceptibility to","equivalent_identifiers":["MONDO:0100183","OMIM:179300","UMLS:C5241445","medgen:1712799"],"information_content":100.0}
{"id":"MONDO:0100186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GTP cyclohydrolase I deficiency with hyperphenylalaninemia","equivalent_identifiers":["MONDO:0100186","DOID:0112225","OMIM:233910","orphanet:2102","NCIT:C141442","SNOMEDCT:23447005"],"information_content":100.0}
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{"id":"MONDO:0100193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic liver failure","equivalent_identifiers":["MONDO:0100193","EFO:1001311","UMLS:C0745744","UMLS:C2936476","MESH:D058625","MEDDRA:10050060","MEDDRA:10057573","NCIT:C84428","SNOMEDCT:235886005","SNOMEDCT:708248004","medgen:423539","HP:0100626"],"information_content":100.0}
{"id":"MONDO:0100211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth hormone insensitivity with immune dysregulation 1, autosomal recessive","equivalent_identifiers":["MONDO:0100211","DOID:0080836","OMIM:245590","orphanet:220465","UMLS:C1855548","UMLS:C4510411","UMLS:C5435698","MESH:C537871","SNOMEDCT:724179008","medgen:1734133"],"information_content":100.0}
{"id":"MONDO:0100212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IFAP syndrome","equivalent_identifiers":["MONDO:0100212","OMIM.PS:308205","orphanet:2273","UMLS:C1839988","medgen:327007"],"information_content":92.8}
{"id":"MONDO:0100213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IFAP syndrome 1, with or without BRESHECK syndrome","equivalent_identifiers":["MONDO:0100213","DOID:0111821","OMIM:308205","UMLS:C5399971","MESH:C536085","medgen:1746744"],"information_content":100.0}
{"id":"MONDO:0100215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rajab interstitial lung disease with brain calcifications 1","equivalent_identifiers":["MONDO:0100215","OMIM:613658","orphanet:178506","UMLS:C5436276","SNOMEDCT:720576001","medgen:1750003"],"information_content":100.0}
{"id":"MONDO:0100216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DICER1 syndrome","equivalent_identifiers":["MONDO:0100216","DOID:0081063","orphanet:284343","UMLS:C3839822","NCIT:C123317","SNOMEDCT:702411003","medgen:825667"],"information_content":85.5}
{"id":"MONDO:0100217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental delay with short stature, dysmorphic facial features, and sparse hair 2","equivalent_identifiers":["MONDO:0100217","DOID:0070478","OMIM:620062","UMLS:C5774223","medgen:1823996"],"information_content":100.0}
{"id":"MONDO:0100218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis multiplex congenita 5","equivalent_identifiers":["MONDO:0100218","DOID:0080981","OMIM:618947","UMLS:C5436453","medgen:1731112"],"information_content":100.0}
{"id":"MONDO:0100219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant","equivalent_identifiers":["MONDO:0100219","DOID:0080837","OMIM:618985","UMLS:C5436546","medgen:1723138"],"information_content":100.0}
{"id":"MONDO:0100220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rajab interstitial lung disease with brain calcifications 2","equivalent_identifiers":["MONDO:0100220","OMIM:619013","UMLS:C5436603","medgen:1770895"],"information_content":100.0}
{"id":"MONDO:0100221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IFAP syndrome 2","equivalent_identifiers":["MONDO:0100221","OMIM:619016","UMLS:C5436607","medgen:1763502"],"information_content":100.0}
{"id":"MONDO:0100224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex I deficiency, nuclear type 1","equivalent_identifiers":["MONDO:0100224","DOID:0112074","OMIM:252010"],"information_content":100.0}
{"id":"MONDO:0100226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Somnambulism","equivalent_identifiers":["MONDO:0100226","OMIM:613938","UMLS:C0037672","UMLS:C3151363","MESH:D013009","MEDDRA:10041012","MEDDRA:10041346","MEDDRA:10041347","NCIT:C95078","SNOMEDCT:80495009","medgen:462713","HP:0025236"],"information_content":100.0}
{"id":"MONDO:0100232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriatic arthritis, susceptibility to","equivalent_identifiers":["MONDO:0100232","OMIM:607507","UMLS:C1835223","medgen:322604"],"information_content":95.4}
{"id":"MONDO:0100234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal familial ventricular fibrillation","equivalent_identifiers":["MONDO:0100234","orphanet:228140","UMLS:C0340493","MESH:C537182","medgen:83310"],"information_content":92.8}
{"id":"MONDO:0100244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paroxysmal nocturnal hemoglobinuria","equivalent_identifiers":["MONDO:0100244","DOID:0060284","OMIM.PS:300818","orphanet:447","UMLS:C0019050","UMLS:C0024790","MESH:D006457","MEDDRA:10034042","MEDDRA:10055629","NCIT:C61233","SNOMEDCT:1963002","medgen:7471","icd11.foundation:859588467","ICD10:D59.5","ICD10:D59.6","HP:0004818"],"information_content":92.8}
{"id":"MONDO:0100249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XX testicular disorder of sex development","equivalent_identifiers":["MONDO:0100249","DOID:0111760","orphanet:393","UMLS:C2936419","MESH:D058531","MEDDRA:10087158","NCIT:C127170","SNOMEDCT:890089005","medgen:424734","icd11.foundation:1357942532"],"information_content":89.4}
{"id":"MONDO:0100250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XX sex reversal 1","equivalent_identifiers":["MONDO:0100250","DOID:0111761","OMIM:400045","UMLS:C2748895","NCIT:C179867","SNOMEDCT:1234907000","medgen:411324"],"information_content":100.0}
{"id":"MONDO:0100251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome","equivalent_identifiers":["MONDO:0100251","DOID:0111063","orphanet:306661","UMLS:C1876187","MESH:C566870","NCIT:C131851","SNOMEDCT:860796007","medgen:360297","ICD10:M11.2"],"information_content":100.0}
{"id":"MONDO:0100252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tumoral calcinosis, hyperphosphatemic, familial, 1","equivalent_identifiers":["MONDO:0100252","OMIM:211900","UMLS:C4692564","medgen:1642611"],"information_content":100.0}
{"id":"MONDO:0100253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Roberts-SC phocomelia syndrome","equivalent_identifiers":["MONDO:0100253","DOID:5325","OMIM:268300","orphanet:3103","UMLS:C0392475","MESH:C535687","MEDDRA:10084326","MEDDRA:10084330","NCIT:C126326","NCIT:C4681","SNOMEDCT:48718006","medgen:95931"],"information_content":95.4}
{"id":"MONDO:0100255","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenosine kinase deficiency","equivalent_identifiers":["MONDO:0100255","DOID:0111038","OMIM:614300","orphanet:289290","UMLS:C1970196","UMLS:C4706555","MESH:C567015","SNOMEDCT:763721006","medgen:1632232"],"information_content":100.0}
{"id":"MONDO:0100280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waldenstrom macroglobulinemia","equivalent_identifiers":["MONDO:0100280","DOID:0060901","DOID:9080","OMIM.PS:153600","orphanet:33226","EFO:0002616","EFO:0009441","UMLS:C0024419","UMLS:C2936755","UMLS:C4477091","MESH:D008258","MEDDRA:10025389","MEDDRA:10025390","MEDDRA:10047714","MEDDRA:10047801","MEDDRA:10047802","MEDDRA:10047803","MEDDRA:10054693","MEDDRA:10054695","MEDDRA:10054696","MEDDRA:10062831","MEDDRA:10081211","MEDDRA:10081215","NCIT:C115212","NCIT:C80307","SNOMEDCT:190817009","SNOMEDCT:190818004","SNOMEDCT:35562000","medgen:6174","ICD10:C88.0","ICD9:273.3","HP:0005508"],"information_content":89.4}
{"id":"MONDO:0100281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macroglobulinemia, Waldenstrom, 1","equivalent_identifiers":["MONDO:0100281","OMIM:153600","UMLS:C1835192","medgen:320546"],"information_content":100.0}
{"id":"MONDO:0100285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extrahepatic biliary atresia","equivalent_identifiers":["MONDO:0100285","OMIM:210500","UMLS:C4520983","NCIT:C97069","SNOMEDCT:82821008","medgen:1621383","icd11.foundation:1813934523","HP:0005242"],"information_content":100.0}
{"id":"MONDO:0100288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enhanced S-cone syndrome","equivalent_identifiers":["MONDO:0100288","DOID:0090059","OMIM:268100","UMLS:C1849394","MESH:C564835","medgen:341446"],"information_content":100.0}
{"id":"MONDO:0100289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Goldmann-Favre syndrome","equivalent_identifiers":["MONDO:0100289","orphanet:53540","UMLS:C0339541","SNOMEDCT:232065000","medgen:87387","icd11.foundation:890235941"],"information_content":100.0}
{"id":"MONDO:0100292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carey-Fineman-Ziter syndrome 2","equivalent_identifiers":["MONDO:0100292","DOID:0061116","OMIM:619941","UMLS:C5677012","medgen:1800921"],"information_content":100.0}
{"id":"MONDO:0100294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex II deficiency, nuclear type 1","equivalent_identifiers":["MONDO:0100294","DOID:0060537","OMIM:252011","orphanet:3208","UMLS:C1291270","UMLS:C1855008","UMLS:C4020801","UMLS:C4024705","UMLS:C5700310","MESH:C565375","NCIT:C187258","SNOMEDCT:124165006","SNOMEDCT:237989003","medgen:1814582","ICD10:G71.3","HP:0008314"],"information_content":100.0}
{"id":"MONDO:0100295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease, susceptibility to, mitochondrial","equivalent_identifiers":["MONDO:0100295","OMIM:502500","UMLS:C1838990","medgen:325148"],"information_content":100.0}
{"id":"MONDO:0100296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Olmsted syndrome 1","equivalent_identifiers":["MONDO:0100296","DOID:0112013","OMIM:614594","UMLS:C5542829","medgen:1778121"],"information_content":100.0}
{"id":"MONDO:0100297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1","equivalent_identifiers":["MONDO:0100297","DOID:0060989","OMIM:617877","UMLS:C5542952","medgen:1778119"],"information_content":100.0}
{"id":"MONDO:0100302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LADD syndrome 1","equivalent_identifiers":["MONDO:0100302","OMIM:149730","UMLS:C5774323","medgen:1824096"],"information_content":100.0}
{"id":"MONDO:0100303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis, annular epidermolytic 1","equivalent_identifiers":["MONDO:0100303","OMIM:607602"],"information_content":100.0}
{"id":"MONDO:0100311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sensory ataxia","equivalent_identifiers":["MONDO:0100311","UMLS:C0037921","UMLS:C0240991","MEDDRA:10073686","SNOMEDCT:445458007","SNOMEDCT:69131009","medgen:66020","HP:0010871"],"information_content":92.8}
{"id":"MONDO:0100312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vestibular ataxia","equivalent_identifiers":["MONDO:0100312","UMLS:C0235927","UMLS:C4015052","MEDDRA:10003595","MEDDRA:10047385","MEDDRA:10080749","SNOMEDCT:22443004","medgen:863489","HP:0008568"],"information_content":100.0}
{"id":"MONDO:0100313","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal segmental glomerulosclerosis","equivalent_identifiers":["MONDO:0100313","DOID:1312","EFO:0004236","UMLS:C0017668","MESH:D005923","MEDDRA:10016832","MEDDRA:10065581","MEDDRA:10067757","MEDDRA:10087691","NCIT:C37308","SNOMEDCT:236403004","SNOMEDCT:25821008","medgen:4904","HP:0000097"],"information_content":83.1}
{"id":"MONDO:0100316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome 1","equivalent_identifiers":["MONDO:0100316","DOID:0110644","OMIM:192500","UMLS:C1843738","UMLS:C3277700","UMLS:C4551647","MESH:D029597","MEDDRA:10039211","NCIT:C85049","SNOMEDCT:20852007","medgen:1641146","ICD10:I45.8"],"information_content":100.0}
{"id":"MONDO:0100325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"odontochondrodysplasia 1","equivalent_identifiers":["MONDO:0100325","OMIM:184260","orphanet:166272","UMLS:C5542277","SNOMEDCT:717823001","medgen:1784281"],"information_content":100.0}
{"id":"MONDO:0100326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thrombasthenia","equivalent_identifiers":["MONDO:0100326","OMIM.PS:273800","orphanet:849","UMLS:C0040015","UMLS:C4021767","MEDDRA:10018303","MEDDRA:10019905","MEDDRA:10043529","MEDDRA:10043543","medgen:52736","icd11.foundation:1927726560","HP:0001975"],"information_content":92.8}
{"id":"MONDO:0100339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Friedreich ataxia","equivalent_identifiers":["MONDO:0100339","DOID:12705","orphanet:95","UMLS:C0016719","MESH:D005621","MEDDRA:10017374","NCIT:C84718","SNOMEDCT:10394003","medgen:5276","icd11.foundation:980686666","ICD10:G11.11","ICD9:334.0"],"information_content":90.9}
{"id":"MONDO:0100340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Friedreich ataxia 1","equivalent_identifiers":["MONDO:0100340","DOID:0111218","OMIM:229300","UMLS:C1856689","MESH:C565561","medgen:383962"],"information_content":100.0}
{"id":"MONDO:0100344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartter disease type 1","equivalent_identifiers":["MONDO:0100344","DOID:0110142","OMIM:601678","orphanet:620217","UMLS:C1866495","MESH:C537652","NCIT:C178412","SNOMEDCT:700107006","medgen:355727","ICD10:E26.8"],"information_content":100.0}
{"id":"MONDO:0100345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lactose intolerance","equivalent_identifiers":["MONDO:0100345","DOID:10604","EFO:1000062","UMLS:C0022951","UMLS:C4721810","MESH:D007787","MEDDRA:10001545","MEDDRA:10023681","NCIT:C3154","SNOMEDCT:267425008","SNOMEDCT:700094005","SNOMEDCT:782415009","medgen:6001","icd11.foundation:1026224967","ICD10:E73","HP:0004789"],"information_content":95.4}
{"id":"MONDO:0100347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carcinoid syndrome","equivalent_identifiers":["MONDO:0100347","orphanet:100093","EFO:1000852","UMLS:C0024586","MESH:D008303","MEDDRA:10007270","NCIT:C3215","SNOMEDCT:35868009","medgen:6191","icd11.foundation:111763187"],"information_content":90.9}
{"id":"MONDO:0100348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities","equivalent_identifiers":["MONDO:0100348","OMIM:619091","UMLS:C5436783","medgen:1731507"],"information_content":100.0}
{"id":"MONDO:0100349","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COACH syndrome","equivalent_identifiers":["MONDO:0100349","DOID:0111589","orphanet:1454","UMLS:C1857662","MESH:C536430","SNOMEDCT:721847002","medgen:387879"],"information_content":90.9}
{"id":"MONDO:0100350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, type 5","equivalent_identifiers":["MONDO:0100350","DOID:0111203","orphanet:139536","UMLS:C1833308","MESH:C563443","SNOMEDCT:1197152005","medgen:318838"],"information_content":90.9}
{"id":"MONDO:0100352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"episodic kinesigenic dyskinesia 1","equivalent_identifiers":["MONDO:0100352","DOID:0090053","OMIM:128200","UMLS:C4552000","MESH:C537180","NCIT:C178413","SNOMEDCT:609221008","medgen:1636366"],"information_content":100.0}
{"id":"MONDO:0100354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MMIH Syndrome","equivalent_identifiers":["MONDO:0100354","DOID:0060610","OMIM:249210","orphanet:2241","UMLS:C5542316","MESH:C536138","NCIT:C98982","SNOMEDCT:253781004","medgen:1778116"],"information_content":100.0}
{"id":"MONDO:0100367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"port-wine nevi-mega cisterna magna-hydrocephalus syndrome","equivalent_identifiers":["MONDO:0100367","orphanet:2703","UMLS:C5191040","SNOMEDCT:783701002","medgen:1682989"],"information_content":100.0}
{"id":"MONDO:0100428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive bulbar palsy of childhood","equivalent_identifiers":["MONDO:0100428","DOID:0080632","OMIM:211500","UMLS:C0015708","UMLS:C0393540","SNOMEDCT:230246005","medgen:41975"],"information_content":100.0}
{"id":"MONDO:0100429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intrahepatic cholestasis of pregnancy","equivalent_identifiers":["MONDO:0100429","DOID:0070227","orphanet:69665","EFO:0009048","UMLS:C0268318","MESH:C535932","MEDDRA:10049055","MEDDRA:10088491","medgen:82788","icd11.foundation:1576251337"],"information_content":92.8}
{"id":"MONDO:0100431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Common Migraine","equivalent_identifiers":["MONDO:0100431","DOID:12783","UMLS:C0338480","MESH:D020326","MEDDRA:10010108","MEDDRA:10052787","MEDDRA:10089706","NCIT:C117004","SNOMEDCT:56097005","medgen:137899","icd11.foundation:2048783472","ICD10:G43.0","ICD9:346.1","HP:0002083"],"information_content":92.8}
{"id":"MONDO:0100433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ACTB-associated syndromic thrombocytopenia","equivalent_identifiers":["MONDO:0100433","OMIM:620475","orphanet:674653","UMLS:C5882677","medgen:1851006"],"information_content":100.0}
{"id":"MONDO:0100435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schwartz-Jampel syndrome type 1","equivalent_identifiers":["MONDO:0100435","DOID:0090005","OMIM:255800","UMLS:C4551479","medgen:1647990"],"information_content":100.0}
{"id":"MONDO:0100436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cataract 2, multiple types","equivalent_identifiers":["MONDO:0100436","DOID:0110235","OMIM:604307","UMLS:C1852438","UMLS:C4021237","UMLS:C4721890","medgen:1648415","HP:0010698"],"information_content":100.0}
{"id":"MONDO:0100450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAPN5-related vitreoretinopathy","equivalent_identifiers":["MONDO:0100450","DOID:9719","OMIM:193235","orphanet:329211","UMLS:C4721549","SNOMEDCT:770791000","medgen:1648542"],"information_content":100.0}
{"id":"MONDO:0100457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"achalasia, familial esophageal","equivalent_identifiers":["MONDO:0100457","OMIM:200400","UMLS:C1860213","MESH:C536011","medgen:395436"],"information_content":100.0}
{"id":"MONDO:0100459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"azoospermia","equivalent_identifiers":["MONDO:0100459","DOID:14227","UMLS:C0004509","UMLS:C1704202","MESH:D053713","MESH:D053714","MEDDRA:10003495","MEDDRA:10003883","NCIT:C80076","SNOMEDCT:425558002","SNOMEDCT:448921000","SNOMEDCT:48188009","medgen:2150","icd11.foundation:532688254","ICD10:N46.0","ICD9:606.0","HP:0000027"],"information_content":88.2}
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{"id":"MONDO:0700342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monilethrix-3","equivalent_identifiers":["MONDO:0700342","OMIM:621170"],"information_content":100.0}
{"id":"MONDO:0700343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monilethrix-1","equivalent_identifiers":["MONDO:0700343","OMIM:158000"],"information_content":100.0}
{"id":"MONDO:0800001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"delayed sleep phase syndrome, susceptibility to","equivalent_identifiers":["MONDO:0800001","OMIM:614163","UMLS:C3279991","medgen:481621"],"information_content":100.0}
{"id":"MONDO:0800025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Teebi hypertelorism syndrome 1","equivalent_identifiers":["MONDO:0800025","DOID:0080698","OMIM:145420","orphanet:1519","SNOMEDCT:724284005"],"information_content":100.0}
{"id":"MONDO:0800026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease","equivalent_identifiers":["MONDO:0800026","DOID:0060731","OMIM:209880","orphanet:661","UMLS:C0020681","UMLS:C5562075","MEDDRA:10007982","NCIT:C98889","SNOMEDCT:230499002","SNOMEDCT:405272003","medgen:1794285","icd11.foundation:1750742010"],"information_content":100.0}
{"id":"MONDO:0800027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy, diffuse hereditary, with spheroids 1","equivalent_identifiers":["MONDO:0800027","DOID:0080523","OMIM:221820","orphanet:313808","UMLS:C5561929","MESH:C580150","NCIT:C153289","SNOMEDCT:702427005","medgen:1794139"],"information_content":100.0}
{"id":"MONDO:0800028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyskinesia with orofacial involvement, autosomal dominant","equivalent_identifiers":["MONDO:0800028","OMIM:606703","orphanet:324588","UMLS:C1847627","UMLS:C5551343","MESH:C564676","SNOMEDCT:763352005","medgen:1790407"],"information_content":100.0}
{"id":"MONDO:0800029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interstitial lung disease 2","equivalent_identifiers":["MONDO:0800029","DOID:0050156","DOID:0060971","OMIM:178500","orphanet:2032","EFO:0000768","UMLS:C1800706","UMLS:C4721507","UMLS:C4721508","UMLS:C4721509","UMLS:C4721952","UMLS:C5561926","MESH:D054990","MEDDRA:10001892","MEDDRA:10011495","MEDDRA:10016640","MEDDRA:10016641","MEDDRA:10021240","NCIT:C35715","NCIT:C35716","SNOMEDCT:196125002","SNOMEDCT:237121003","SNOMEDCT:426437004","SNOMEDCT:700250006","medgen:1794136","ICD10:J84.112","ICD9:516.31","HP:0031950"],"information_content":100.0}
{"id":"MONDO:0800030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastrointestinal defects and immunodeficiency syndrome 1","equivalent_identifiers":["MONDO:0800030","OMIM:243150","orphanet:436252","UMLS:C5680044","SNOMEDCT:1197428008","medgen:1806192"],"information_content":100.0}
{"id":"MONDO:0800042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"restrictive dermopathy 1","equivalent_identifiers":["MONDO:0800042","DOID:0070369","OMIM:275210","UMLS:C5676878","MESH:C536920","SNOMEDCT:400128006","medgen:1812447"],"information_content":100.0}
{"id":"MONDO:0800043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Stüve-Wiedemann syndrome 1","equivalent_identifiers":["MONDO:0800043","OMIM:601559","orphanet:3206","UMLS:C5676888","MESH:C537502","SNOMEDCT:254097005","medgen:1803541"],"information_content":100.0}
{"id":"MONDO:0800044","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of deglycosylation 1","equivalent_identifiers":["MONDO:0800044","DOID:0060728","OMIM:615273","orphanet:404454","NCIT:C126746","SNOMEDCT:768846004","ICD10:E77.8"],"information_content":100.0}
{"id":"MONDO:0800045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammatory syndrome, familial, Behcet-like 1","equivalent_identifiers":["MONDO:0800045","DOID:0080944","OMIM:616744","orphanet:674762","EFO:0020034","UMLS:C4225218","medgen:898541"],"information_content":100.0}
{"id":"MONDO:0800046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid hormone metabolism, abnormal 1","equivalent_identifiers":["MONDO:0800046","OMIM:609698","orphanet:171706","UMLS:C5676891","MESH:C566454","medgen:1801974"],"information_content":100.0}
{"id":"MONDO:0800047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrothrombocytopenia, isolated, 1, autosomal dominant","equivalent_identifiers":["MONDO:0800047","DOID:0090102","OMIM:613112","UMLS:C2751259","UMLS:C5676892","MESH:C567747","medgen:1811721"],"information_content":100.0}
{"id":"MONDO:0800103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COACH syndrome 1","equivalent_identifiers":["MONDO:0800103","OMIM:216360","UMLS:C5435651","medgen:1769861"],"information_content":100.0}
{"id":"MONDO:0800104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 105","equivalent_identifiers":["MONDO:0800104","DOID:0061074","OMIM:619924","UMLS:C5677005","medgen:1809425"],"information_content":100.0}
{"id":"MONDO:0800127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary amyloidosis","equivalent_identifiers":["MONDO:0800127","EFO:1001910","UMLS:C0700376","MEDDRA:10063945","SNOMEDCT:196135008","medgen:675153","HP:0033247"],"information_content":100.0}
{"id":"MONDO:0800129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammatory disease, X-linked","equivalent_identifiers":["MONDO:0800129","OMIM:301081","UMLS:C5676885","medgen:1811268"],"information_content":100.0}
{"id":"MONDO:0800130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammatory syndrome with immunodeficiency","equivalent_identifiers":["MONDO:0800130","OMIM:619375","UMLS:C5543547","medgen:1784363"],"information_content":100.0}
{"id":"MONDO:0800131","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgE recurrent infection syndrome 4A, autosomal dominant","equivalent_identifiers":["MONDO:0800131","OMIM:619752","UMLS:C5676920","medgen:1809613"],"information_content":100.0}
{"id":"MONDO:0800132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency","equivalent_identifiers":["MONDO:0800132","OMIM:619858","UMLS:C5676977","medgen:1803642"],"information_content":100.0}
{"id":"MONDO:0800133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary hypoplasia","equivalent_identifiers":["MONDO:0800133","UMLS:C0265783","MEDDRA:10037407","NCIT:C99035","SNOMEDCT:80825009","medgen:78574","HP:0002089"],"information_content":95.4}
{"id":"MONDO:0800167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Knobloch syndrome 1","equivalent_identifiers":["MONDO:0800167","OMIM:267750","orphanet:1571","UMLS:C4551775","MESH:C537209","NCIT:C201594","SNOMEDCT:703542000","medgen:1642123"],"information_content":100.0}
{"id":"MONDO:0800175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiogenic shock","equivalent_identifiers":["MONDO:0800175","orphanet:97292","UMLS:C0036980","MESH:D012770","MEDDRA:10007625","MEDDRA:10040563","NCIT:C50482","SNOMEDCT:89138009","medgen:48650","icd11.foundation:1974956233","HP:0030149"],"information_content":86.3}
{"id":"MONDO:0800187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 83, susceptibility to viral infections","equivalent_identifiers":["MONDO:0800187","OMIM:613002","UMLS:C2751803","UMLS:C5562079","medgen:416638"],"information_content":100.0}
{"id":"MONDO:0800215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multicentric Castleman disease, susceptibility to","equivalent_identifiers":["MONDO:0800215","OMIM:148000","UMLS:C3538945","UMLS:C3541461","medgen:762089"],"information_content":100.0}
{"id":"MONDO:0800306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonic epilepsy of Lafora 2","equivalent_identifiers":["MONDO:0800306","OMIM:620681","UMLS:C1850764","MESH:C564976","medgen:340621"],"information_content":100.0}
{"id":"MONDO:0800337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute tubulointerstitial nephritis","equivalent_identifiers":["MONDO:0800337","UMLS:C1843274","MESH:C564356","MEDDRA:10000819","MEDDRA:10022614","MEDDRA:10029135","SNOMEDCT:28637003","medgen:334716","HP:0004729"],"information_content":100.0}
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{"id":"MONDO:0800410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"UV-induced skin damage, susceptibility to","equivalent_identifiers":["MONDO:0800410","OMIM:266300","UMLS:C1849452","UMLS:C2678403","medgen:394510"],"information_content":100.0}
{"id":"MONDO:0800431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"efavirenz central nervous system toxicity, susceptibility to","equivalent_identifiers":["MONDO:0800431","OMIM:614546","UMLS:C3281153","UMLS:C3281154","medgen:482783"],"information_content":100.0}
{"id":"MONDO:0800432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obesity, susceptibility to","equivalent_identifiers":["MONDO:0800432","OMIM:617885","UMLS:C1866432","UMLS:C4693522","medgen:356231"],"information_content":100.0}
{"id":"MONDO:0800436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1","equivalent_identifiers":["MONDO:0800436","DOID:0081124","OMIM:213980","orphanet:1394","UMLS:C1859252","UMLS:C5677021","MESH:C565862","SNOMEDCT:720635002","medgen:1808104"],"information_content":100.0}
{"id":"MONDO:0800437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carey-Fineman-Ziter syndrome 1","equivalent_identifiers":["MONDO:0800437","DOID:0061115","DOID:0080194","OMIM:254940","UMLS:C5676876","MESH:C536102","SNOMEDCT:429753001","medgen:1804638"],"information_content":100.0}
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{"id":"MONDO:0800446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bleeding diathesis due to thromboxane synthesis deficiency","equivalent_identifiers":["MONDO:0800446","orphanet:220443","EFO:0700023","UMLS:C5190857","SNOMEDCT:783194008","medgen:1678745","icd11.foundation:1676860885"],"information_content":95.4}
{"id":"MONDO:0800447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bleeding disorder, platelet-type, 13, susceptibility to","equivalent_identifiers":["MONDO:0800447","OMIM:614009","UMLS:C3279614","medgen:481244"],"information_content":100.0}
{"id":"MONDO:0800448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy with vanishing white matter","equivalent_identifiers":["MONDO:0800448","DOID:0060868","OMIM.PS:603896","orphanet:135","UMLS:C1858991","NCIT:C122664","SNOMEDCT:447351004","medgen:347037"],"information_content":84.8}
{"id":"MONDO:0800449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lysosomal acid lipase deficiency","equivalent_identifiers":["MONDO:0800449","DOID:0080217","OMIM.PS:278000","orphanet:275761","EFO:0700022","UMLS:C5574740","MESH:C531854","MEDDRA:10077267","SNOMEDCT:715923003","medgen:1807768","icd11.foundation:381622932","ICD10:E75.5"],"information_content":92.8}
{"id":"MONDO:0800452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital amegakaryocytic thrombocytopenia 1","equivalent_identifiers":["MONDO:0800452","DOID:0061005","DOID:0090118","OMIM:604498","orphanet:3319","UMLS:C5882667","MESH:C535982","NCIT:C115207","SNOMEDCT:716336002","medgen:1845022"],"information_content":100.0}
{"id":"MONDO:0800453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile absence epilepsy","equivalent_identifiers":["MONDO:0800453","DOID:0060172","orphanet:1941","UMLS:C4317339","MEDDRA:10085031","NCIT:C129868","SNOMEDCT:230413002","medgen:1388059","icd11.foundation:519416529"],"information_content":90.9}
{"id":"MONDO:0800455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Birt-Hogg-Dube syndrome 2","equivalent_identifiers":["MONDO:0800455","OMIM:620459","UMLS:C5830676","medgen:1841312"],"information_content":100.0}
{"id":"MONDO:0800491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-infantile DEE","equivalent_identifiers":["MONDO:0800491","DOID:0050709","DOID:308","orphanet:1934","UMLS:C0270855","NCIT:C116593","SNOMEDCT:230429005","SNOMEDCT:44423001","icd11.foundation:1877241469"],"information_content":90.9}
{"id":"MONDO:0810000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroidal neovascularization","equivalent_identifiers":["MONDO:0810000","UMLS:C0600518","UMLS:C4023323","MESH:D020256","MEDDRA:10060823","MEDDRA:10060837","medgen:154726","HP:0011506"],"information_content":90.9}
{"id":"MONDO:0850053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"F12-associated cold autoinflammatory syndrome","equivalent_identifiers":["MONDO:0850053","orphanet:617919","UMLS:C5681829","SNOMEDCT:1348303000","medgen:1843368"],"information_content":100.0}
{"id":"MONDO:0850059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary persistence of fetal hemoglobin-intellectual disability syndrome","equivalent_identifiers":["MONDO:0850059","orphanet:619233"],"information_content":100.0}
{"id":"MONDO:0850065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NOCARH syndrome","equivalent_identifiers":["MONDO:0850065","orphanet:619363","UMLS:C5925147","medgen:1863412"],"information_content":100.0}
{"id":"MONDO:0850066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SAMD9L-SAAD","equivalent_identifiers":["MONDO:0850066","orphanet:619367","UMLS:C5680414","medgen:1842521"],"information_content":100.0}
{"id":"MONDO:0850067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immune deficiency due to impaired neutrophil phagocytosis and migration","equivalent_identifiers":["MONDO:0850067","orphanet:619941","UMLS:C5680413","medgen:1843340"],"information_content":100.0}
{"id":"MONDO:0850068","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset autoimmunity-autoinflammation-immunodeficiency syndrome","equivalent_identifiers":["MONDO:0850068","orphanet:619948","UMLS:C5680416","SNOMEDCT:1351844007","medgen:1842754"],"information_content":100.0}
{"id":"MONDO:0850069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hyperinflammatory lymphoproliferative immunodeficiency","equivalent_identifiers":["MONDO:0850069","orphanet:619953","UMLS:C5680415","SNOMEDCT:1351853000","medgen:1842618"],"information_content":100.0}
{"id":"MONDO:0850070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CADINS disease","equivalent_identifiers":["MONDO:0850070","orphanet:619972","UMLS:C5680417","SNOMEDCT:1336113009","medgen:1842902"],"information_content":100.0}
{"id":"MONDO:0850071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome","equivalent_identifiers":["MONDO:0850071","orphanet:619979","UMLS:C5681830","SNOMEDCT:1340174002","medgen:1842938"],"information_content":100.0}
{"id":"MONDO:0850073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-syndromic unicoronal craniosynostosis","equivalent_identifiers":["MONDO:0850073","orphanet:620102","UMLS:C5680401","medgen:1842408"],"information_content":100.0}
{"id":"MONDO:0850078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-syndromic non-specific multisutural craniosynostosis","equivalent_identifiers":["MONDO:0850078","orphanet:620158","UMLS:C5680398","medgen:1842261"],"information_content":100.0}
{"id":"MONDO:0850087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome","equivalent_identifiers":["MONDO:0850087","orphanet:620363","UMLS:C5681826","SNOMEDCT:1351854006","medgen:1842330"],"information_content":100.0}
{"id":"MONDO:0850088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"EGF-related primary hypomagnesemia with intellectual disability","equivalent_identifiers":["MONDO:0850088","orphanet:620368","UMLS:C5681825","SNOMEDCT:1351962002","medgen:1843381"],"information_content":100.0}
{"id":"MONDO:0850089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation","equivalent_identifiers":["MONDO:0850089","orphanet:620371","UMLS:C5680390","medgen:1843117"],"information_content":100.0}
{"id":"MONDO:0850090","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrosis-neurodegeneration-cerebral angiomatosis syndrome","equivalent_identifiers":["MONDO:0850090","orphanet:621758"],"information_content":100.0}
{"id":"MONDO:0850095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked severe syndromic thoracic aortic aneurysm and dissection","equivalent_identifiers":["MONDO:0850095","orphanet:622925"],"information_content":100.0}
{"id":"MONDO:0850096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SBDS-related severe neonatal spondylometaphyseal dysplasia","equivalent_identifiers":["MONDO:0850096","orphanet:622934","UMLS:C5680412","medgen:1843152"],"information_content":100.0}
{"id":"MONDO:0850097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune limbic encephalitis","equivalent_identifiers":["MONDO:0850097","orphanet:623615","UMLS:C2930824","MESH:C531729","SNOMEDCT:1300193002","medgen:419645","icd11.foundation:1254443511"],"information_content":100.0}
{"id":"MONDO:0850099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MIR140-related spondyloepiphyseal dysplasia","equivalent_identifiers":["MONDO:0850099","orphanet:623695","UMLS:C5680411","medgen:1842455"],"information_content":100.0}
{"id":"MONDO:0850100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"body integrity dysphoria","equivalent_identifiers":["MONDO:0850100","orphanet:623789","UMLS:C4546282","SNOMEDCT:762532001","medgen:1626910","icd11.foundation:256572629"],"information_content":100.0}
{"id":"MONDO:0850112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast implant-associated anaplastic large cell lymphoma","equivalent_identifiers":["MONDO:0850112","DOID:0070333","orphanet:667662","UMLS:C4528210","MEDDRA:10082495","NCIT:C139012","SNOMEDCT:1172730009","SNOMEDCT:783541009","medgen:1611347","icd11.foundation:1216213663"],"information_content":92.8}
{"id":"MONDO:0850115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early-onset obesity-hyperphagia-severe developmental delay syndrome","equivalent_identifiers":["MONDO:0850115","orphanet:99704"],"information_content":100.0}
{"id":"MONDO:0850231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythema nodosum","equivalent_identifiers":["MONDO:0850231","DOID:0080750","UMLS:C0014743","MESH:D004893","MEDDRA:10015226","SNOMEDCT:32861005","medgen:41858","icd11.foundation:1628519266","HP:0012219"],"information_content":95.4}
{"id":"MONDO:0850302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracranial meningioma","equivalent_identifiers":["MONDO:0850302","DOID:0060106","DOID:0080842","UMLS:C0349604","NCIT:C4656","SNOMEDCT:302820008","medgen:83891","HP:0100009"],"information_content":74.3}
{"id":"MONDO:0850514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inclusion body myopathy and brain white matter abnormalities","equivalent_identifiers":["MONDO:0850514","DOID:0081121","OMIM:619733","UMLS:C5676909","medgen:1812978"],"information_content":100.0}
{"id":"MONDO:0851095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"KINSSHIP syndrome","equivalent_identifiers":["MONDO:0851095","DOID:0112383","OMIM:619297","UMLS:C5543317","medgen:1779339"],"information_content":100.0}
{"id":"MONDO:0858998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesomelic dysplasia-digital anomalies-intellectual disability syndrome","equivalent_identifiers":["MONDO:0858998","orphanet:632603","UMLS:C5816803","medgen:1843408"],"information_content":100.0}
{"id":"MONDO:0858999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome","equivalent_identifiers":["MONDO:0858999","orphanet:633004"],"information_content":100.0}
{"id":"MONDO:0859002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability-early-onset cataract-microcephaly syndrome","equivalent_identifiers":["MONDO:0859002","orphanet:633035"],"information_content":100.0}
{"id":"MONDO:0859006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proximal femoral focal deficiency","equivalent_identifiers":["MONDO:0859006","orphanet:633228","UMLS:C0431996","MEDDRA:10078473","SNOMEDCT:205211001","medgen:609280","HP:0030772"],"information_content":100.0}
{"id":"MONDO:0859046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhabdomyosarcoma, embryonal, 2","equivalent_identifiers":["MONDO:0859046","OMIM:180295","UMLS:C1867234","MESH:C566709","medgen:357232"],"information_content":100.0}
{"id":"MONDO:0859050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Schistosoma mansoni infection, susceptibility/resistance to","equivalent_identifiers":["MONDO:0859050","OMIM:181460","UMLS:C1866993","medgen:401132"],"information_content":100.0}
{"id":"MONDO:0859080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies","equivalent_identifiers":["MONDO:0859080","OMIM:301066","UMLS:C5561930","medgen:1794140"],"information_content":100.0}
{"id":"MONDO:0859081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome Xq13 duplication syndrome","equivalent_identifiers":["MONDO:0859081","OMIM:301069","UMLS:C5677057","medgen:1809227"],"information_content":100.0}
{"id":"MONDO:0859082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophilia, X-linked, due to factor 8 defect","equivalent_identifiers":["MONDO:0859082","OMIM:301071","UMLS:C5676879","medgen:1805414"],"information_content":100.0}
{"id":"MONDO:0859083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic lupus erythematosus 17","equivalent_identifiers":["MONDO:0859083","OMIM:301080","UMLS:C5676884","medgen:1804329"],"information_content":100.0}
{"id":"MONDO:0859085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked","equivalent_identifiers":["MONDO:0859085","OMIM:301094","UMLS:C5774179","medgen:1823953"],"information_content":100.0}
{"id":"MONDO:0859086","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, X-linked 110","equivalent_identifiers":["MONDO:0859086","OMIM:301095","UMLS:C5774180","medgen:1823954"],"information_content":100.0}
{"id":"MONDO:0859136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzahrani-Kuwahara syndrome","equivalent_identifiers":["MONDO:0859136","OMIM:619268","UMLS:C5543274","medgen:1782127"],"information_content":100.0}
{"id":"MONDO:0859137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia","equivalent_identifiers":["MONDO:0859137","OMIM:619286","UMLS:C5543306","medgen:1781371"],"information_content":100.0}
{"id":"MONDO:0859139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharophimosis-impaired intellectual development syndrome","equivalent_identifiers":["MONDO:0859139","DOID:0081442","OMIM:619293","orphanet:637013","UMLS:C5443984","medgen:1779966"],"information_content":100.0}
{"id":"MONDO:0859141","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia","equivalent_identifiers":["MONDO:0859141","OMIM:619306","UMLS:C5543332","medgen:1786150"],"information_content":100.0}
{"id":"MONDO:0859142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hiatt-Neu-Cooper neurodevelopmental syndrome","equivalent_identifiers":["MONDO:0859142","OMIM:619311","UMLS:C5543338","medgen:1785187"],"information_content":100.0}
{"id":"MONDO:0859143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Radio-Tartaglia syndrome","equivalent_identifiers":["MONDO:0859143","OMIM:619312","orphanet:662234","UMLS:C5543339","medgen:1778557"],"information_content":100.0}
{"id":"MONDO:0859144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Buratti-Harel syndrome","equivalent_identifiers":["MONDO:0859144","OMIM:619314","UMLS:C5543351","medgen:1788293"],"information_content":100.0}
{"id":"MONDO:0859146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth restriction, hypoplastic kidneys, alopecia, and distinctive facies","equivalent_identifiers":["MONDO:0859146","OMIM:619321","UMLS:C5543375","medgen:1784590"],"information_content":100.0}
{"id":"MONDO:0859147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marbach-Rustad progeroid syndrome","equivalent_identifiers":["MONDO:0859147","OMIM:619322","orphanet:659873","UMLS:C5543388","medgen:1784907"],"information_content":100.0}
{"id":"MONDO:0859148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with seizures and gingival overgrowth","equivalent_identifiers":["MONDO:0859148","OMIM:619323","UMLS:C5543395","medgen:1784299"],"information_content":100.0}
{"id":"MONDO:0859149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertriglyceridemia 2","equivalent_identifiers":["MONDO:0859149","OMIM:619324","UMLS:C5543398","medgen:1783778"],"information_content":100.0}
{"id":"MONDO:0859150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BDV syndrome","equivalent_identifiers":["MONDO:0859150","OMIM:619326","orphanet:633028","UMLS:C5543403","SNOMEDCT:1340175001","medgen:1785671"],"information_content":100.0}
{"id":"MONDO:0859151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibromuscular dysplasia, multifocal","equivalent_identifiers":["MONDO:0859151","OMIM:619329","UMLS:C5543412","medgen:1778238"],"information_content":100.0}
{"id":"MONDO:0859152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with cerebellar atrophy and motor dysfunction","equivalent_identifiers":["MONDO:0859152","DOID:0070443","OMIM:619333","UMLS:C5543427","medgen:1781936"],"information_content":100.0}
{"id":"MONDO:0859154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartsocas-Papas syndrome 2","equivalent_identifiers":["MONDO:0859154","OMIM:619339","UMLS:C5543445","medgen:1778443"],"information_content":100.0}
{"id":"MONDO:0859155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 1p36 deletion syndrome, proximal","equivalent_identifiers":["MONDO:0859155","OMIM:619343","UMLS:C5562114","medgen:1794324"],"information_content":100.0}
{"id":"MONDO:0859156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysostosis multiplex, Ain-Naz type","equivalent_identifiers":["MONDO:0859156","OMIM:619345","UMLS:C5444223","medgen:1780944"],"information_content":100.0}
{"id":"MONDO:0859157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"visceral myopathy 2","equivalent_identifiers":["MONDO:0859157","OMIM:619350","UMLS:C5543466","medgen:1783630"],"information_content":100.0}
{"id":"MONDO:0859158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia, intention tremor, and hypotonia syndrome, childhood-onset","equivalent_identifiers":["MONDO:0859158","OMIM:619352","UMLS:C5543478","medgen:1787902"],"information_content":100.0}
{"id":"MONDO:0859159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deafness, cataract, impaired intellectual development, and polyneuropathy","equivalent_identifiers":["MONDO:0859159","OMIM:619354","UMLS:C5543482","medgen:1781637"],"information_content":100.0}
{"id":"MONDO:0859160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex IV deficiency, nuclear type 22","equivalent_identifiers":["MONDO:0859160","DOID:0070507","OMIM:619355","UMLS:C5543491","medgen:1786100"],"information_content":100.0}
{"id":"MONDO:0859161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome","equivalent_identifiers":["MONDO:0859161","OMIM:619356","UMLS:C5543496","medgen:1788511"],"information_content":100.0}
{"id":"MONDO:0859162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with infantile epileptic spasms","equivalent_identifiers":["MONDO:0859162","OMIM:619373","UMLS:C5543538","medgen:1781627"],"information_content":100.0}
{"id":"MONDO:0859163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Faundes-Banka syndrome","equivalent_identifiers":["MONDO:0859163","OMIM:619376","UMLS:C5543554","medgen:1782083"],"information_content":100.0}
{"id":"MONDO:0859164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteootohepatoenteric syndrome","equivalent_identifiers":["MONDO:0859164","OMIM:619377","UMLS:C5543557","NCIT:C201597","medgen:1785846"],"information_content":100.0}
{"id":"MONDO:0859165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities","equivalent_identifiers":["MONDO:0859165","OMIM:619383","UMLS:C5543591","medgen:1780615"],"information_content":100.0}
{"id":"MONDO:0859167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypokalemic tubulopathy and deafness","equivalent_identifiers":["MONDO:0859167","OMIM:619406","UMLS:C5543621","medgen:1785163"],"information_content":100.0}
{"id":"MONDO:0859168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy","equivalent_identifiers":["MONDO:0859168","DOID:0051044","OMIM:619424","UMLS:C5561937","medgen:1794147"],"information_content":100.0}
{"id":"MONDO:0859169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"White-Kernohan syndrome","equivalent_identifiers":["MONDO:0859169","OMIM:619426","UMLS:C5543635","medgen:1785087"],"information_content":100.0}
{"id":"MONDO:0859170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal dystrophy and microvillus inclusion disease","equivalent_identifiers":["MONDO:0859170","OMIM:619446","UMLS:C5561943","medgen:1794153"],"information_content":100.0}
{"id":"MONDO:0859171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Luo-Schoch-Yamamoto syndrome","equivalent_identifiers":["MONDO:0859171","DOID:0070416","OMIM:619460","UMLS:C5561946","medgen:1794156"],"information_content":100.0}
{"id":"MONDO:0859172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic disease of fetus and newborn, RH-induced","equivalent_identifiers":["MONDO:0859172","OMIM:619462","UMLS:C0748400","medgen:1789316"],"information_content":100.0}
{"id":"MONDO:0859173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sick sinus syndrome 4","equivalent_identifiers":["MONDO:0859173","OMIM:619464","UMLS:C5561949","medgen:1794159"],"information_content":100.0}
{"id":"MONDO:0859174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usmani-Riazuddin syndrome, autosomal dominant","equivalent_identifiers":["MONDO:0859174","OMIM:619467","UMLS:C5561952","medgen:1794162"],"information_content":100.0}
{"id":"MONDO:0859175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephronophthisis-like nephropathy 2","equivalent_identifiers":["MONDO:0859175","OMIM:619468","UMLS:C5561953","medgen:1794163"],"information_content":100.0}
{"id":"MONDO:0859176","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with motor and speech delay and behavioral abnormalities","equivalent_identifiers":["MONDO:0859176","OMIM:619470","UMLS:C5561954","medgen:1794164"],"information_content":100.0}
{"id":"MONDO:0859177","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"VISS syndrome","equivalent_identifiers":["MONDO:0859177","OMIM:619472","UMLS:C5561955","NCIT:C198610","medgen:1794165"],"information_content":100.0}
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{"id":"MONDO:0859181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DEGCAGS syndrome","equivalent_identifiers":["MONDO:0859181","OMIM:619488","UMLS:C5561967","medgen:1794177"],"information_content":100.0}
{"id":"MONDO:0859182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short stature, Dauber-Argente type","equivalent_identifiers":["MONDO:0859182","OMIM:619489","UMLS:C5561968","medgen:1794178"],"information_content":100.0}
{"id":"MONDO:0859183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 24, autosomal dominant, susceptibility to","equivalent_identifiers":["MONDO:0859183","OMIM:619491","UMLS:C5561969","medgen:1794179"],"information_content":100.0}
{"id":"MONDO:0859184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ventriculomegaly and arthrogryposis","equivalent_identifiers":["MONDO:0859184","OMIM:619501","UMLS:C5561973","medgen:1794183"],"information_content":100.0}
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{"id":"MONDO:0859191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biliary, renal, neurologic, and skeletal syndrome","equivalent_identifiers":["MONDO:0859191","OMIM:619534","UMLS:C5561990","medgen:1794200"],"information_content":100.0}
{"id":"MONDO:0859192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral cavernous malformation 4","inheritance":"Autosomal dominant germline de novo mutation","equivalent_identifiers":["MONDO:0859192","OMIM:619538","UMLS:C5561991","medgen:1794201"],"information_content":100.0}
{"id":"MONDO:0859194","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Boudin-Mortier syndrome","equivalent_identifiers":["MONDO:0859194","OMIM:619543","UMLS:C5561992","medgen:1794202"],"information_content":100.0}
{"id":"MONDO:0859196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usmani-Riazuddin syndrome, autosomal recessive","equivalent_identifiers":["MONDO:0859196","OMIM:619548","UMLS:C5561994","medgen:1794204"],"information_content":100.0}
{"id":"MONDO:0859197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies","equivalent_identifiers":["MONDO:0859197","DOID:0081262","OMIM:619556","UMLS:C5561997","medgen:1794207","KEGG.DISEASE:H02463"],"information_content":100.0}
{"id":"MONDO:0859198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies","equivalent_identifiers":["MONDO:0859198","OMIM:619557","UMLS:C5561998","medgen:1794208"],"information_content":100.0}
{"id":"MONDO:0859199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental delay with or without intellectual impairment or behavioral abnormalities","equivalent_identifiers":["MONDO:0859199","OMIM:619575","UMLS:C5562004","medgen:1794214"],"information_content":100.0}
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{"id":"MONDO:0859203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhizomelic dysplasia, Ain-Naz type","equivalent_identifiers":["MONDO:0859203","OMIM:619598","UMLS:C5562013","medgen:1794223"],"information_content":100.0}
{"id":"MONDO:0859204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies","equivalent_identifiers":["MONDO:0859204","OMIM:619602","UMLS:C5562015","medgen:1794225"],"information_content":100.0}
{"id":"MONDO:0859205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"delayed puberty, self-limited","equivalent_identifiers":["MONDO:0859205","OMIM:619613","UMLS:C2874202","medgen:1789612"],"information_content":100.0}
{"id":"MONDO:0859206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with hearing loss and spasticity","equivalent_identifiers":["MONDO:0859206","OMIM:619616","orphanet:659975","UMLS:C5562024","medgen:1794234"],"information_content":100.0}
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{"id":"MONDO:0859208","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hengel-Maroofian-Schols syndrome","equivalent_identifiers":["MONDO:0859208","DOID:0070408","OMIM:619641","UMLS:C5562032","medgen:1794242"],"information_content":100.0}
{"id":"MONDO:0859209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zaki syndrome","equivalent_identifiers":["MONDO:0859209","DOID:0070473","OMIM:619648","UMLS:C5562037","medgen:1794247"],"information_content":100.0}
{"id":"MONDO:0859210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 16q12 duplication syndrome","equivalent_identifiers":["MONDO:0859210","OMIM:619649","UMLS:C5562082","medgen:1794292"],"information_content":100.0}
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{"id":"MONDO:0859212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus","equivalent_identifiers":["MONDO:0859212","OMIM:619653","UMLS:C5562040","medgen:1794250"],"information_content":100.0}
{"id":"MONDO:0859213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital heart defects, multiple types, 8, with or without heterotaxy","equivalent_identifiers":["MONDO:0859213","OMIM:619657","UMLS:C5562042","medgen:1794252"],"information_content":100.0}
{"id":"MONDO:0859214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marbach-Schaaf neurodevelopmental syndrome","equivalent_identifiers":["MONDO:0859214","OMIM:619680","UMLS:C5562050","medgen:1794260"],"information_content":100.0}
{"id":"MONDO:0859215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia, early-onset, and/or spastic paraplegia","equivalent_identifiers":["MONDO:0859215","DOID:0070445","OMIM:619681","UMLS:C5562051","medgen:1794261"],"information_content":100.0}
{"id":"MONDO:0859216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis","equivalent_identifiers":["MONDO:0859216","OMIM:619685","UMLS:C5562052","medgen:1794262"],"information_content":100.0}
{"id":"MONDO:0859217","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brunet-Wagner neurodevelopmental syndrome","equivalent_identifiers":["MONDO:0859217","DOID:0061126","OMIM:619690","UMLS:C5562056","medgen:1794266"],"information_content":100.0}
{"id":"MONDO:0859218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental delay with variable neurologic and brain abnormalities","equivalent_identifiers":["MONDO:0859218","OMIM:619694","UMLS:C5562060","medgen:1794270"],"information_content":100.0}
{"id":"MONDO:0859219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rauch-Steindl syndrome","equivalent_identifiers":["MONDO:0859219","OMIM:619695","orphanet:659642","UMLS:C5562061","MEDDRA:10090741","medgen:1794271"],"information_content":100.0}
{"id":"MONDO:0859220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ferguson-Bonni neurodevelopmental syndrome","equivalent_identifiers":["MONDO:0859220","OMIM:619699","UMLS:C5562065","medgen:1794275"],"information_content":100.0}
{"id":"MONDO:0859221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Yoon-Bellen neurodevelopmental syndrome","equivalent_identifiers":["MONDO:0859221","DOID:0070468","OMIM:619701","UMLS:C5562066","medgen:1794276"],"information_content":100.0}
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{"id":"MONDO:0859223","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type Iw, autosomal dominant","equivalent_identifiers":["MONDO:0859223","OMIM:619714","UMLS:C5562068","medgen:1794278"],"information_content":100.0}
{"id":"MONDO:0859224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual disability and myopathy syndrome","equivalent_identifiers":["MONDO:0859224","DOID:0070600","OMIM:619719","UMLS:C5676904","medgen:1808193"],"information_content":100.0}
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{"id":"MONDO:0859228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 55","equivalent_identifiers":["MONDO:0859228","DOID:0070428","OMIM:619743","UMLS:C5676915","medgen:1806598"],"information_content":100.0}
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{"id":"MONDO:0859230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kury-Isidor syndrome","equivalent_identifiers":["MONDO:0859230","OMIM:619762","UMLS:C5676925","medgen:1807460"],"information_content":100.0}
{"id":"MONDO:0859231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin","equivalent_identifiers":["MONDO:0859231","OMIM:619769","UMLS:C5676928","medgen:1802903"],"information_content":100.0}
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{"id":"MONDO:0859233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa, junctional 6, with pyloric atresia","equivalent_identifiers":["MONDO:0859233","OMIM:619817","UMLS:C5676957","medgen:1803348"],"information_content":100.0}
{"id":"MONDO:0859234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"agammaglobulinemia 8b, autosomal recessive","equivalent_identifiers":["MONDO:0859234","DOID:0081143","OMIM:619824","UMLS:C5676958","medgen:1808468"],"information_content":100.0}
{"id":"MONDO:0859235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"auditory neuropathy, autosomal dominant 3","equivalent_identifiers":["MONDO:0859235","DOID:0112373","OMIM:619832","UMLS:C5676964","medgen:1805371"],"information_content":100.0}
{"id":"MONDO:0859236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with neuromuscular and skeletal abnormalities","equivalent_identifiers":["MONDO:0859236","OMIM:619833","UMLS:C5676965","medgen:1803456"],"information_content":100.0}
{"id":"MONDO:0859237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"3-methylglutaconic aciduria, type VIIA","equivalent_identifiers":["MONDO:0859237","DOID:0081133","OMIM:619835","UMLS:C5676967","medgen:1813022"],"information_content":100.0}
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{"id":"MONDO:0859239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chilton-Okur-Chung neurodevelopmental syndrome","equivalent_identifiers":["MONDO:0859239","OMIM:619841","UMLS:C5677022","medgen:1803276"],"information_content":100.0}
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{"id":"MONDO:0859244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phosphoribosylaminoimidazole carboxylase deficiency","equivalent_identifiers":["MONDO:0859244","OMIM:619859","UMLS:C1291561","SNOMEDCT:124597000","medgen:713858"],"information_content":100.0}
{"id":"MONDO:0859245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia, autosomal recessive 32","equivalent_identifiers":["MONDO:0859245","DOID:0070413","OMIM:619862","UMLS:C5676978","medgen:1802496"],"information_content":100.0}
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{"id":"MONDO:0957303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palmoplantar keratoderma, epidermolytic, 2","equivalent_identifiers":["MONDO:0957303","DOID:0070551","OMIM:620411","UMLS:C2936837","medgen:445412"],"information_content":100.0}
{"id":"MONDO:0957307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"woolly hair-skin fragility syndrome","equivalent_identifiers":["MONDO:0957307","OMIM:620415","UMLS:C1843292","medgen:375148"],"information_content":100.0}
{"id":"MONDO:0957308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia 90A, autosomal dominant","equivalent_identifiers":["MONDO:0957308","DOID:0070459","OMIM:620416","UMLS:C5830574","medgen:1841210"],"information_content":100.0}
{"id":"MONDO:0957309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia 90B, autosomal recessive","equivalent_identifiers":["MONDO:0957309","DOID:0070460","OMIM:620417","UMLS:C5830578","medgen:1841214"],"information_content":100.0}
{"id":"MONDO:0957314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 97","equivalent_identifiers":["MONDO:0957314","DOID:0061110","OMIM:620422","UMLS:C5830579","medgen:1841215"],"information_content":100.0}
{"id":"MONDO:0957318","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrolithiasis, calcium oxalate","equivalent_identifiers":["MONDO:0957318","OMIM:167030","OMIM.PS:167030","EFO:0009065","UMLS:C1833683","UMLS:C4280806","UMLS:C5779632","MESH:C563477","NCIT:C123242","SNOMEDCT:444717006","medgen:318935","HP:0008672"],"information_content":92.8}
{"id":"MONDO:0957382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple mitochondrial dysfunctions syndrome 7","equivalent_identifiers":["MONDO:0957382","OMIM:620423","UMLS:C5830586","medgen:1841222"],"information_content":100.0}
{"id":"MONDO:0957385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 37, early-onset, with striatal lesions","equivalent_identifiers":["MONDO:0957385","DOID:0060956","OMIM:620427","UMLS:C5830592","medgen:1841228"],"information_content":100.0}
{"id":"MONDO:0957386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities","equivalent_identifiers":["MONDO:0957386","DOID:0081387","OMIM:620428","UMLS:C5830596","medgen:1841232"],"information_content":100.0}
{"id":"MONDO:0957388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune disease, multisystem, infantile-onset, 3","equivalent_identifiers":["MONDO:0957388","OMIM:620430","UMLS:C5830600","medgen:1841236"],"information_content":100.0}
{"id":"MONDO:0957396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary dyskinesia, primary, 51","equivalent_identifiers":["MONDO:0957396","OMIM:620438","UMLS:C5830608","medgen:1841244"],"information_content":100.0}
{"id":"MONDO:0957397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal dominant 72","equivalent_identifiers":["MONDO:0957397","DOID:0061045","OMIM:620439","orphanet:652487","UMLS:C5830612","medgen:1841248"],"information_content":100.0}
{"id":"MONDO:0957427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)","equivalent_identifiers":["MONDO:0957427","orphanet:641372","UMLS:C5816790","medgen:1843410"],"information_content":100.0}
{"id":"MONDO:0957428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B-lymphoblastic leukemia/lymphoma with t(17;19)","equivalent_identifiers":["MONDO:0957428","orphanet:641375","UMLS:C5816789","medgen:1843405"],"information_content":100.0}
{"id":"MONDO:0957442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive ataxia due to PEX16 deficiency","equivalent_identifiers":["MONDO:0957442","orphanet:642954","UMLS:C5816797","medgen:1843419"],"information_content":100.0}
{"id":"MONDO:0957443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive ataxia due to PEX2 deficiency","equivalent_identifiers":["MONDO:0957443","orphanet:642965","UMLS:C5816796","medgen:1843414"],"information_content":100.0}
{"id":"MONDO:0957473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome","equivalent_identifiers":["MONDO:0957473","orphanet:647681","UMLS:C5816752","medgen:1843399"],"information_content":100.0}
{"id":"MONDO:0957477","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MYT1L-related developmental delay-intellectual disability-obesity syndrome","equivalent_identifiers":["MONDO:0957477","orphanet:647799","UMLS:C5816753","SNOMEDCT:1303866001","medgen:1843395"],"information_content":100.0}
{"id":"MONDO:0957487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic catatonia","equivalent_identifiers":["MONDO:0957487","orphanet:648919","UMLS:C5816742","SNOMEDCT:1335868004","medgen:1843416"],"information_content":100.0}
{"id":"MONDO:0957494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoinflammatory disease, multisystem, with immune dysregulation, X-linked","equivalent_identifiers":["MONDO:0957494","OMIM:301109","UMLS:C5829577","medgen:1840213"],"information_content":92.8}
{"id":"MONDO:0957495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature","equivalent_identifiers":["MONDO:0957495","OMIM:301110","UMLS:C5829585","medgen:1840221"],"information_content":100.0}
{"id":"MONDO:0957496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, X-linked 112","equivalent_identifiers":["MONDO:0957496","OMIM:301111","UMLS:C5829589","medgen:1840225"],"information_content":100.0}
{"id":"MONDO:0957497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disabling pansclerotic morphea of childhood","equivalent_identifiers":["MONDO:0957497","DOID:0081373","OMIM:620443","UMLS:C3898649","NCIT:C116787","medgen:858243"],"information_content":100.0}
{"id":"MONDO:0957530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast-ovarian cancer, familial, susceptibility to, 5","equivalent_identifiers":["MONDO:0957530","OMIM:620442","UMLS:C5830615","medgen:1841251"],"information_content":100.0}
{"id":"MONDO:0957531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with microcephaly and movement abnormalities","equivalent_identifiers":["MONDO:0957531","OMIM:620445","UMLS:C5830624","medgen:1841260"],"information_content":100.0}
{"id":"MONDO:0957533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephalic leukoencephalopathy with subcortical cysts 3","equivalent_identifiers":["MONDO:0957533","OMIM:620447","UMLS:C5830625","medgen:1841261"],"information_content":100.0}
{"id":"MONDO:0957534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megalencephalic leukoencephalopathy with subcortical cysts 4, remitting","equivalent_identifiers":["MONDO:0957534","OMIM:620448","UMLS:C5830628","medgen:1841264"],"information_content":100.0}
{"id":"MONDO:0957535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 112","equivalent_identifiers":["MONDO:0957535","DOID:0061079","OMIM:620449","UMLS:C5830633","medgen:1841269"],"information_content":100.0}
{"id":"MONDO:0957536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intellectual developmental disorder, autosomal dominant 73","equivalent_identifiers":["MONDO:0957536","DOID:0061046","OMIM:620450","UMLS:C5830636","medgen:1841272"],"information_content":100.0}
{"id":"MONDO:0957537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 58","equivalent_identifiers":["MONDO:0957537","OMIM:620451","UMLS:C5830641","medgen:1841277"],"information_content":100.0}
{"id":"MONDO:0957538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis 28","equivalent_identifiers":["MONDO:0957538","DOID:0081382","OMIM:620452","UMLS:C5830642","medgen:1841278"],"information_content":100.0}
{"id":"MONDO:0957539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 22, juvenile-onset","equivalent_identifiers":["MONDO:0957539","DOID:0060966","OMIM:620453","UMLS:C5830645","medgen:1841281"],"information_content":100.0}
{"id":"MONDO:0957540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type IIaa","equivalent_identifiers":["MONDO:0957540","OMIM:620454","UMLS:C5830651","medgen:1841287"],"information_content":100.0}
{"id":"MONDO:0957541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with hypotonia and speech delay, with or without seizures","equivalent_identifiers":["MONDO:0957541","DOID:0070512","OMIM:620455","UMLS:C5830654","medgen:1841290"],"information_content":100.0}
{"id":"MONDO:0957542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dystonia 22, adult-onset","equivalent_identifiers":["MONDO:0957542","DOID:0060967","OMIM:620456","UMLS:C5830658","medgen:1841294"],"information_content":100.0}
{"id":"MONDO:0957543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"auriculocondylar syndrome 4","equivalent_identifiers":["MONDO:0957543","OMIM:620457","UMLS:C5830659","medgen:1841295"],"information_content":100.0}
{"id":"MONDO:0957544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"auriculocondylar syndrome 2B","equivalent_identifiers":["MONDO:0957544","OMIM:620458","UMLS:C5830664","medgen:1841300"],"information_content":100.0}
{"id":"MONDO:0957545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, dilated, 2I","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["MONDO:0957545","OMIM:620462","UMLS:C5830685","medgen:1841321"],"information_content":100.0}
{"id":"MONDO:0957563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay","equivalent_identifiers":["MONDO:0957563","OMIM:620469","UMLS:C5882675","medgen:1848439"],"information_content":100.0}
{"id":"MONDO:0957564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital smooth muscle hamartoma, with or without hemihypertrophy","inheritance":"Somatic mosaicism","equivalent_identifiers":["MONDO:0957564","OMIM:620470","UMLS:C5882676","medgen:1847218"],"information_content":100.0}
{"id":"MONDO:0957572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 9","equivalent_identifiers":["MONDO:0957572","OMIM:620478","UMLS:C5882678","medgen:1844414"],"information_content":100.0}
{"id":"MONDO:0957575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amegakaryocytic thrombocytopenia, congenital, 2","equivalent_identifiers":["MONDO:0957575","DOID:0061002","OMIM:620481","UMLS:C5882679","medgen:1848998"],"information_content":100.0}
{"id":"MONDO:0957576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development","equivalent_identifiers":["MONDO:0957576","DOID:0070486","OMIM:620482","UMLS:C5882680","medgen:1845571"],"information_content":100.0}
{"id":"MONDO:0957577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"variegate porphyria, childhood-onset","equivalent_identifiers":["MONDO:0957577","OMIM:620483","UMLS:C5882681","medgen:1849794"],"information_content":100.0}
{"id":"MONDO:0957578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 10","equivalent_identifiers":["MONDO:0957578","OMIM:620484","UMLS:C5882682","medgen:1847819"],"information_content":100.0}
{"id":"MONDO:0957580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bleeding disorder, platelet-type, 25","equivalent_identifiers":["MONDO:0957580","OMIM:620486","UMLS:C5882683","medgen:1846290"],"information_content":100.0}
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{"id":"MONDO:0957584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 85","equivalent_identifiers":["MONDO:0957584","DOID:0070584","OMIM:620490","UMLS:C5882685","medgen:1849976"],"information_content":100.0}
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{"id":"MONDO:0957593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 86","equivalent_identifiers":["MONDO:0957593","DOID:0070585","OMIM:620499","UMLS:C5882755","medgen:1847370"],"information_content":100.0}
{"id":"MONDO:0957594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 87","equivalent_identifiers":["MONDO:0957594","DOID:0070586","OMIM:620500","UMLS:C5882687","medgen:1852637"],"information_content":100.0}
{"id":"MONDO:0957595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ziegler-Huang syndrome","equivalent_identifiers":["MONDO:0957595","OMIM:620501","UMLS:C5882688","medgen:1844409"],"information_content":100.0}
{"id":"MONDO:0957779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with language delay and variable cognitive abnormalities","equivalent_identifiers":["MONDO:0957779","OMIM:620502","UMLS:C5882689","medgen:1850358"],"information_content":100.0}
{"id":"MONDO:0957780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental and epileptic encephalopathy 111","equivalent_identifiers":["MONDO:0957780","OMIM:620504","UMLS:C5882690","medgen:1846991"],"information_content":100.0}
{"id":"MONDO:0957783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ichthyosis with erythrokeratoderma","equivalent_identifiers":["MONDO:0957783","OMIM:620507","UMLS:C5882691","medgen:1852819"],"information_content":100.0}
{"id":"MONDO:0957786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"xerosis and growth failure with immune and pulmonary dysfunction syndrome","equivalent_identifiers":["MONDO:0957786","OMIM:620510","UMLS:C5882692","medgen:1848919"],"information_content":100.0}
{"id":"MONDO:0957787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fliedner-Zweier syndrome","equivalent_identifiers":["MONDO:0957787","OMIM:620511","UMLS:C5882693","medgen:1845438"],"information_content":100.0}
{"id":"MONDO:0957788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic paraplegia 18a, autosomal dominant","equivalent_identifiers":["MONDO:0957788","OMIM:620512","UMLS:C5882694","medgen:1844217"],"information_content":100.0}
{"id":"MONDO:0957790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immune dysregulation, autoimmunity, and autoinflammation","equivalent_identifiers":["MONDO:0957790","OMIM:620514","UMLS:C5848750","medgen:1847968"],"information_content":100.0}
{"id":"MONDO:0957791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction","equivalent_identifiers":["MONDO:0957791","OMIM:620515","UMLS:C5882695","medgen:1846192"],"information_content":100.0}
{"id":"MONDO:0957795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic cardiomyopathy with variable ectodermal abnormalities","equivalent_identifiers":["MONDO:0957795","OMIM:620519","UMLS:C5882696","medgen:1847702"],"information_content":100.0}
{"id":"MONDO:0957807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgE syndrome 6, autosomal dominant, with recurrent infections","equivalent_identifiers":["MONDO:0957807","OMIM:620532","UMLS:C5848786","medgen:1851769"],"information_content":100.0}
{"id":"MONDO:0957809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutropenia, severe congenital, 10, autosomal recessive","equivalent_identifiers":["MONDO:0957809","OMIM:620534","UMLS:C5882756","medgen:1851433"],"information_content":100.0}
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{"id":"MONDO:0957811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alport syndrome 3b, autosomal recessive","equivalent_identifiers":["MONDO:0957811","OMIM:620536","UMLS:C5882699","medgen:1848447"],"information_content":100.0}
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{"id":"MONDO:0957819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis, distal, type 12","equivalent_identifiers":["MONDO:0957819","OMIM:620545","UMLS:C5882704","medgen:1847896"],"information_content":100.0}
{"id":"MONDO:0957820","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation, type IIbb","equivalent_identifiers":["MONDO:0957820","DOID:0051047","OMIM:620546","UMLS:C5882705","medgen:1846347"],"information_content":100.0}
{"id":"MONDO:0957821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatogenic failure 88","equivalent_identifiers":["MONDO:0957821","DOID:0070587","OMIM:620547","UMLS:C5882706","medgen:1845113"],"information_content":100.0}
{"id":"MONDO:0957822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ovarian failure 22","equivalent_identifiers":["MONDO:0957822","OMIM:620548","UMLS:C5882707","medgen:1849005"],"information_content":100.0}
{"id":"MONDO:0957824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 14","equivalent_identifiers":["MONDO:0957824","OMIM:620550","UMLS:C5882708","medgen:1851745"],"information_content":100.0}
{"id":"MONDO:0957825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, autosomal recessive 121","equivalent_identifiers":["MONDO:0957825","OMIM:620551","UMLS:C5882709","medgen:1844128"],"information_content":100.0}
{"id":"MONDO:0957832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"craniometadiaphyseal osteosclerosis with hip dysplasia","equivalent_identifiers":["MONDO:0957832","OMIM:620558","UMLS:C5882710","medgen:1844026"],"information_content":100.0}
{"id":"MONDO:0957870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy with vanishing white matter 2","equivalent_identifiers":["MONDO:0957870","DOID:0070373","OMIM:620312","UMLS:C5830404","medgen:1841040"],"information_content":100.0}
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{"id":"MONDO:0957872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukoencephalopathy with vanishing white matter 4","equivalent_identifiers":["MONDO:0957872","DOID:0070371","OMIM:620314","UMLS:C5830406","medgen:1841042"],"information_content":100.0}
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{"id":"MONDO:0957875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal dominant 11","equivalent_identifiers":["MONDO:0957875","DOID:0081400","OMIM:620528","UMLS:C5882697","medgen:1849676"],"information_content":100.0}
{"id":"MONDO:0957876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronopathy, distal hereditary motor, autosomal recessive 10","equivalent_identifiers":["MONDO:0957876","DOID:0081429","OMIM:620542","UMLS:C5882703","medgen:1846713"],"information_content":100.0}
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{"id":"MONDO:0957921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cornelia de Lange syndrome 6","equivalent_identifiers":["MONDO:0957921","DOID:0060970","OMIM:620568","UMLS:C5882712","medgen:1848930"],"information_content":100.0}
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{"id":"MONDO:0957928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otosclerosis 11","equivalent_identifiers":["MONDO:0957928","DOID:0060928","OMIM:620576","UMLS:C5882715","medgen:1846918"],"information_content":100.0}
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{"id":"MONDO:0957953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Garg-Mishra progeroid syndrome","equivalent_identifiers":["MONDO:0957953","OMIM:620601","UMLS:C5882717","medgen:1847272"],"information_content":100.0}
{"id":"MONDO:0957954","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphatic malformation 14","equivalent_identifiers":["MONDO:0957954","OMIM:620602","UMLS:C5882718","medgen:1851480"],"information_content":100.0}
{"id":"MONDO:0957955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 114, folate-responsive","equivalent_identifiers":["MONDO:0957955","DOID:0061080","OMIM:620603","UMLS:C5882719","medgen:1848890"],"information_content":100.0}
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{"id":"MONDO:0957960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Long-Olsen-Distelmaier syndrome","equivalent_identifiers":["MONDO:0957960","OMIM:620609","UMLS:C5882721","medgen:1847052"],"information_content":100.0}
{"id":"MONDO:0957961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oocyte/zygote/embryo maturation arrest 21","equivalent_identifiers":["MONDO:0957961","OMIM:620610","UMLS:C5882722","medgen:1845812"],"information_content":100.0}
{"id":"MONDO:0957978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 16","equivalent_identifiers":["MONDO:0957978","OMIM:620629","UMLS:C5882723","medgen:1851641"],"information_content":100.0}
{"id":"MONDO:0957981","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 115 with autoinflammation","equivalent_identifiers":["MONDO:0957981","DOID:0061081","OMIM:620632","UMLS:C5882724","medgen:1847791"],"information_content":100.0}
{"id":"MONDO:0957984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, dilated, 2j","equivalent_identifiers":["MONDO:0957984","OMIM:620635","UMLS:C5882725","medgen:1846005"],"information_content":100.0}
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{"id":"MONDO:0957988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteogenesis imperfecta, type 23","equivalent_identifiers":["MONDO:0957988","OMIM:620639","UMLS:C5882757","medgen:1846121"],"information_content":100.0}
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{"id":"MONDO:0957992","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency 59","equivalent_identifiers":["MONDO:0957992","OMIM:620646","UMLS:C5882730","medgen:1845781"],"information_content":100.0}
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{"id":"MONDO:0958000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies","equivalent_identifiers":["MONDO:0958000","OMIM:620654","UMLS:C5882734","medgen:1846947"],"information_content":100.0}
{"id":"MONDO:0958001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alfadhel syndrome","equivalent_identifiers":["MONDO:0958001","OMIM:620655","UMLS:C5882735","medgen:1845825"],"information_content":100.0}
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{"id":"MONDO:0958037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental dysplasia of the hip 3","equivalent_identifiers":["MONDO:0958037","OMIM:620690","UMLS:C5882750","medgen:1850976"],"information_content":100.0}
{"id":"MONDO:0958071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hao-Fountain syndrome due to USP7 mutation","equivalent_identifiers":["MONDO:0958071","OMIM:616863","orphanet:643538","UMLS:C5816734","medgen:1853151"],"information_content":100.0}
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{"id":"MONDO:0958085","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digenic hemochromatosis","equivalent_identifiers":["MONDO:0958085","orphanet:648581","UMLS:C5816744","SNOMEDCT:1299153008","medgen:1853200"],"information_content":100.0}
{"id":"MONDO:0958094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset progressive leukoencephalopathy-early-onset deafness","equivalent_identifiers":["MONDO:0958094","orphanet:652532","UMLS:C5921954","SNOMEDCT:1299152003","medgen:1859137"],"information_content":100.0}
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{"id":"MONDO:0958180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bradyopsia 1","equivalent_identifiers":["MONDO:0958180","DOID:0070363","OMIM:608415","UMLS:C5829874","medgen:1840510"],"information_content":100.0}
{"id":"MONDO:0958181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial trifunctional protein deficiency 1","equivalent_identifiers":["MONDO:0958181","DOID:0070619","OMIM:609015","UMLS:C5830705"],"information_content":100.0}
{"id":"MONDO:0958182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C1Q deficiency 1","equivalent_identifiers":["MONDO:0958182","OMIM:613652"],"information_content":100.0}
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{"id":"MONDO:0958187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C1Q deficiency 2","equivalent_identifiers":["MONDO:0958187","OMIM:620321","UMLS:C5830422","medgen:1841058"],"information_content":100.0}
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{"id":"MONDO:0958326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular dystrophy with or without cone dysfunction","equivalent_identifiers":["MONDO:0958326","OMIM:620762","UMLS:C5935594","medgen:1853300"],"information_content":100.0}
{"id":"MONDO:0958328","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seckel syndrome 11","equivalent_identifiers":["MONDO:0958328","OMIM:620767","UMLS:C5935595","medgen:1855399"],"information_content":100.0}
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{"id":"OMIM:110800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"i>adult< phenotype","equivalent_identifiers":["OMIM:110800","UMLS:C1292164","SNOMEDCT:115752000"]}
{"id":"OMIM:110900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"KELL-NULL PHENOTYPE","equivalent_identifiers":["OMIM:110900","UMLS:C1292244","SNOMEDCT:115838005"]}
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{"id":"OMIM:111200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"111200","equivalent_identifiers":["OMIM:111200"]}
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{"id":"OMIM:112050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"112050","equivalent_identifiers":["OMIM:112050"]}
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{"id":"OMIM:120080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLCHICINE RESISTANCE","equivalent_identifiers":["OMIM:120080","UMLS:C1861502"]}
{"id":"OMIM:124060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PHENACETIN METABOLISM, DEFECT IN","equivalent_identifiers":["OMIM:124060","UMLS:C1852336","UMLS:C1852337","MESH:C565127"]}
{"id":"OMIM:125260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF","equivalent_identifiers":["OMIM:125260","UMLS:C1852265"]}
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{"id":"OMIM:129150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ECHO VIRUS 11 SENSITIVITY","equivalent_identifiers":["OMIM:129150","UMLS:C1851888","MESH:C565071"]}
{"id":"OMIM:130190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT LOCUS","equivalent_identifiers":["OMIM:130190","UMLS:C3549684"]}
{"id":"OMIM:130400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES","equivalent_identifiers":["OMIM:130400","UMLS:C1851755"]}
{"id":"OMIM:132500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Epistaxis, Hereditary","equivalent_identifiers":["OMIM:132500","UMLS:C0339819","MESH:C562751"]}
{"id":"OMIM:132700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ancell-Spiegler cylindromas","equivalent_identifiers":["OMIM:132700","UMLS:C1851526","MESH:C536611","NCIT:C205363"],"information_content":92.8}
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{"id":"OMIM:133600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Exostoses Of Heel","equivalent_identifiers":["OMIM:133600","UMLS:C0877431","MESH:C563167","MEDDRA:10049108"]}
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{"id":"OMIM:136580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)","equivalent_identifiers":["OMIM:136580","UMLS:C3890175"]}
{"id":"OMIM:137000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FUTCHER LINE","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["OMIM:137000","UMLS:C1850937"]}
{"id":"OMIM:137130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gastric Sneezing","equivalent_identifiers":["OMIM:137130","UMLS:C1850930","MESH:C564990"]}
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{"id":"OMIM:139500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hairy Ears","equivalent_identifiers":["OMIM:139500","UMLS:C0263482","MESH:C562484","SNOMEDCT:247246005","SNOMEDCT:89000008"]}
{"id":"OMIM:142335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5","equivalent_identifiers":["OMIM:142335","UMLS:C1969758"]}
{"id":"OMIM:142395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HEPATITIS B VACCINE, RESPONSE TO","equivalent_identifiers":["OMIM:142395","UMLS:C1840634"]}
{"id":"OMIM:142470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2","equivalent_identifiers":["OMIM:142470","UMLS:C1840598"]}
{"id":"OMIM:145001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperparathyroidism-Jaw Tumor Syndrome","equivalent_identifiers":["OMIM:145001","UMLS:C1704981","UMLS:C1840394","MESH:C563273","MESH:C564165","MEDDRA:10090585","MEDDRA:10090586","NCIT:C48287","SNOMEDCT:702378002"],"information_content":92.8}
{"id":"OMIM:146830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Immune Deficiency, Familial Variable","equivalent_identifiers":["OMIM:146830","UMLS:C1840266","MESH:C564136"]}
{"id":"OMIM:146850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNE SUPPRESSION","equivalent_identifiers":["OMIM:146850","UMLS:C1840264"]}
{"id":"OMIM:147300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"INCISORS, LONG UPPER CENTRAL","equivalent_identifiers":["OMIM:147300","UMLS:C1840227"]}
{"id":"OMIM:152600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LUNULAE OF FINGERNAILS","equivalent_identifiers":["OMIM:152600"]}
{"id":"OMIM:155150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Median-Ulnar Nerve Communications","equivalent_identifiers":["OMIM:155150","UMLS:C1835086","MESH:C563598"]}
{"id":"OMIM:155601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2","equivalent_identifiers":["OMIM:155601","UMLS:C1835044"]}
{"id":"OMIM:159300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MUSICAL PERFECT PITCH","equivalent_identifiers":["OMIM:159300","UMLS:C1834650"]}
{"id":"OMIM:159410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["OMIM:159410","UMLS:C1834634"]}
{"id":"OMIM:159420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mydriasis, Congenital","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["OMIM:159420","UMLS:C1303010","MESH:C563221","SNOMEDCT:400963000"]}
{"id":"OMIM:161070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NAIL HIGH-SULFUR PROTEIN","equivalent_identifiers":["OMIM:161070","UMLS:C1834404"]}
{"id":"OMIM:161080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NAIL LOW-SULFUR PROTEIN","equivalent_identifiers":["OMIM:161080","UMLS:C1834403"]}
{"id":"OMIM:161100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NAILBEDS, PIGMENTATION OF","equivalent_identifiers":["OMIM:161100","UMLS:C1834402"]}
{"id":"OMIM:161550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2","equivalent_identifiers":["OMIM:161550","UMLS:C2750548"]}
{"id":"OMIM:161600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Accessory navicular bone of foot (disorder)","equivalent_identifiers":["OMIM:161600","UMLS:C1267087","MESH:C536002","SNOMEDCT:109423001"]}
{"id":"OMIM:162091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SCHWANNOMATOSIS 1","equivalent_identifiers":["OMIM:162091","UMLS:C4048809"]}
{"id":"OMIM:162210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NEUROFIBROMATOSIS, FAMILIAL SPINAL","equivalent_identifiers":["OMIM:162210","UMLS:C1834235","MESH:C563523","SNOMEDCT:1003465006"]}
{"id":"OMIM:162260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neurofibromas, Palmar Cutaneous","equivalent_identifiers":["OMIM:162260","UMLS:C1834231","UMLS:C2931480","MESH:C537389"]}
{"id":"OMIM:164170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Voluntary nystagmus","equivalent_identifiers":["OMIM:164170","UMLS:C0339667","SNOMEDCT:232124002"]}
{"id":"OMIM:175050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia","equivalent_identifiers":["OMIM:175050","UMLS:C1832942","MESH:C563412","SNOMEDCT:1149069001"]}
{"id":"OMIM:175500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cronkhite-Canada Syndrome","equivalent_identifiers":["OMIM:175500","UMLS:C0282207","MESH:D000098858","MEDDRA:10062907","SNOMEDCT:76304001"]}
{"id":"OMIM:178800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pupil, Egg-Shaped","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["OMIM:178800","UMLS:C1867405","MESH:C566731"]}
{"id":"OMIM:179620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"179620","equivalent_identifiers":["OMIM:179620"]}
{"id":"OMIM:181300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SCAPULA, CONTOUR OF VERTEBRAL BORDER OF","equivalent_identifiers":["OMIM:181300","UMLS:C1867019"]}
{"id":"OMIM:190351","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Trichorhinophalangeal Syndrome, Type III","equivalent_identifiers":["OMIM:190351","UMLS:C1860823","MESH:C566033"]}
{"id":"OMIM:191530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urate-Binding Globulin, Decrease in","equivalent_identifiers":["OMIM:191530","UMLS:C1860587","MESH:C566013"]}
{"id":"OMIM:193520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cafe-au-lait macules with pulmonary stenosis","equivalent_identifiers":["OMIM:193520","UMLS:C0553586","SNOMEDCT:403820003"]}
{"id":"OMIM:194470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ZINC, ELEVATED PLASMA","equivalent_identifiers":["OMIM:194470","UMLS:C1860228"]}
{"id":"OMIM:200300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ACETOPHENETIDIN SENSITIVITY","equivalent_identifiers":["OMIM:200300","UMLS:C1860214"]}
{"id":"OMIM:203760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alpha-2-Deficient Collagen Disease","equivalent_identifiers":["OMIM:203760","UMLS:C1859850","MESH:C565963"]}
{"id":"OMIM:209800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AUSTRALIA ANTIGEN","equivalent_identifiers":["OMIM:209800"]}
{"id":"OMIM:210750","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin-Hair-Eye Pigmentation, Variation In, 6","equivalent_identifiers":["OMIM:210750","UMLS:C2673866","MESH:C567139"]}
{"id":"OMIM:212060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CARBIMAZOLE SENSITIVITY","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:212060","UMLS:C1859352"]}
{"id":"OMIM:221760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:221760","UMLS:C1857329"]}
{"id":"OMIM:221780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:221780","UMLS:C1857315"]}
{"id":"OMIM:223200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DISORGANIZATION, MOUSE, HOMOLOG OF","equivalent_identifiers":["OMIM:223200","UMLS:C1857230"]}
{"id":"OMIM:223380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF","equivalent_identifiers":["OMIM:223380","UMLS:C1857198"]}
{"id":"OMIM:224230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1","equivalent_identifiers":["OMIM:224230","UMLS:C1857144","NCIT:C176925"],"information_content":100.0}
{"id":"OMIM:227220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1","equivalent_identifiers":["OMIM:227220","UMLS:C1856895"]}
{"id":"OMIM:227240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin-Hair-Eye Pigmentation, Variation In, 5","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:227240","UMLS:C2673584","MESH:C567119"]}
{"id":"OMIM:234580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Deafness enamel hypoplasia nail defects","equivalent_identifiers":["OMIM:234580","UMLS:C1856186","UMLS:C4551980","MESH:C535994","SNOMEDCT:721085000"]}
{"id":"OMIM:240500","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 2","equivalent_identifiers":["OMIM:240500","UMLS:C3150354"]}
{"id":"OMIM:247420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LuLu phenotype","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:247420","UMLS:C1292230","SNOMEDCT:115823009"]}
{"id":"OMIM:257000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neurovisceral Storage Disease with Curvilinear Bodies","equivalent_identifiers":["OMIM:257000","UMLS:C1850382","MESH:C564944"]}
{"id":"OMIM:260200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pallidal Degeneration, Progressive, with Retinitis Pigmentosa","equivalent_identifiers":["OMIM:260200","UMLS:C1850101","MESH:C564910"]}
{"id":"OMIM:265850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pygmy (disorder)","equivalent_identifiers":["OMIM:265850","UMLS:C1849524"]}
{"id":"OMIM:267800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole","equivalent_identifiers":["OMIM:267800","UMLS:C1849407","MESH:C564844"]}
{"id":"OMIM:268130","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Revesz Syndrome","equivalent_identifiers":["OMIM:268130","UMLS:C1327916","MESH:C538371","NCIT:C152064","SNOMEDCT:723512008"],"information_content":100.0}
{"id":"OMIM:270350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ANOSMIA FOR BUTYL MERCAPTAN","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:270350","UMLS:C1849192"]}
{"id":"OMIM:272370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS","equivalent_identifiers":["OMIM:272370","UMLS:C1848953"]}
{"id":"OMIM:273600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"THALIDOMIDE SUSCEPTIBILITY","equivalent_identifiers":["OMIM:273600","UMLS:C1848866"]}
{"id":"OMIM:274190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thumb Agenesis, Short Stature, And Immunodeficiency","equivalent_identifiers":["OMIM:274190","UMLS:C1848818","MESH:C564770"]}
{"id":"OMIM:300455","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["OMIM:300455","UMLS:C2749137","MESH:C567595"]}
{"id":"OMIM:300488","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1","equivalent_identifiers":["OMIM:300488","UMLS:C1970897"]}
{"id":"OMIM:300910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18","equivalent_identifiers":["OMIM:300910","UMLS:C3806712"]}
{"id":"OMIM:301120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PROSTATE CANCER, HEREDITARY, X-LINKED 3","inheritance":"X-linked inheritance","equivalent_identifiers":["OMIM:301120","UMLS:C5935569"]}
{"id":"OMIM:301148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinitis pigmentosa 99","equivalent_identifiers":["OMIM:301148"]}
{"id":"OMIM:304300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CYANIDE, INABILITY TO SMELL","equivalent_identifiers":["OMIM:304300","UMLS:C1844681"]}
{"id":"OMIM:305000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-Linked Dyskeratosis Congenita","equivalent_identifiers":["OMIM:305000","UMLS:C1148551","UMLS:C1846142","UMLS:C3806774","MESH:C536068","NCIT:C126352","SNOMEDCT:707276009","SNOMEDCT:708536001"],"information_content":100.0}
{"id":"OMIM:305435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3","equivalent_identifiers":["OMIM:305435","UMLS:C1844568"]}
{"id":"OMIM:305690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Genitourinary Tract Anomalies","equivalent_identifiers":["OMIM:305690","UMLS:C1844502","MESH:C564424"]}
{"id":"OMIM:309050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LUTHERAN SUPPRESSOR, X-LINKED","inheritance":"X-linked recessive inheritance","equivalent_identifiers":["OMIM:309050","UMLS:C3887995"]}
{"id":"OMIM:312200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER","inheritance":"X-linked inheritance","equivalent_identifiers":["OMIM:312200","UMLS:C1839409"]}
{"id":"OMIM:314240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TOOTH SIZE","equivalent_identifiers":["OMIM:314240","UMLS:C1839140"]}
{"id":"OMIM:314900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"XM SYSTEM","equivalent_identifiers":["OMIM:314900","UMLS:C1839088"]}
{"id":"OMIM:475000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GROWTH CONTROL, Y-CHROMOSOME INFLUENCED","equivalent_identifiers":["OMIM:475000","UMLS:C1868676"]}
{"id":"OMIM:600209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Exostoses, Multiple, Type III","equivalent_identifiers":["OMIM:600209","UMLS:C1838420","MESH:C563975"]}
{"id":"OMIM:600952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Transsexual (finding)","equivalent_identifiers":["OMIM:600952","UMLS:C0558141","MEDDRA:10079981","SNOMEDCT:407374003"]}
{"id":"OMIM:601096","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Micromelic dwarfism Fryns type","equivalent_identifiers":["OMIM:601096","UMLS:C1832800","MESH:C537556","SNOMEDCT:1003371001"]}
{"id":"OMIM:601228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"POLYPOSIS SYNDROME, HEREDITARY MIXED, 1","equivalent_identifiers":["OMIM:601228","UMLS:C1832587","UMLS:C2677290","UMLS:C2677291","MESH:C563365"]}
{"id":"OMIM:601399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Platelet Disorder, Familial, with Associated Myeloid Malignancy","equivalent_identifiers":["OMIM:601399","UMLS:C1832388","MESH:C563324","NCIT:C162696","SNOMEDCT:725034002"],"information_content":100.0}
{"id":"OMIM:601550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"601550","equivalent_identifiers":["OMIM:601550"]}
{"id":"OMIM:601606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial multiple trichoepitheliomata","equivalent_identifiers":["OMIM:601606","UMLS:C1275122","NCIT:C205364","SNOMEDCT:403825008"],"information_content":92.8}
{"id":"OMIM:601800","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3","equivalent_identifiers":["OMIM:601800","OMIM:614456","UMLS:C2677190","UMLS:C3152204"]}
{"id":"OMIM:601816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1","equivalent_identifiers":["OMIM:601816","UMLS:C1866173"]}
{"id":"OMIM:602025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9","equivalent_identifiers":["OMIM:602025","UMLS:C2677162"]}
{"id":"OMIM:602197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3","equivalent_identifiers":["OMIM:602197","UMLS:C1865782"]}
{"id":"OMIM:603383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glaucoma 1, Open Angle, F","equivalent_identifiers":["OMIM:603383","UMLS:C1863926","MESH:C566383"]}
{"id":"OMIM:603688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY","equivalent_identifiers":["OMIM:603688","UMLS:C1863600"]}
{"id":"OMIM:605429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["OMIM:605429","UMLS:C1854274"]}
{"id":"OMIM:606660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1","equivalent_identifiers":["OMIM:606660","UMLS:C1847724"]}
{"id":"OMIM:606661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2","equivalent_identifiers":["OMIM:606661","UMLS:C1847723"]}
{"id":"OMIM:606719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA-PANCREATIC CANCER SYNDROME","equivalent_identifiers":["OMIM:606719","UMLS:C1838547","MESH:C563985","NCIT:C176904"],"information_content":100.0}
{"id":"OMIM:606856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PANCREATIC CANCER, SUSCEPTIBILITY TO, 1","equivalent_identifiers":["OMIM:606856","UMLS:C1847351"]}
{"id":"OMIM:606960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"INSULINOMA TUMOR SUPPRESSOR GENE LOCUS","inheritance":"Somatic mosaicism","equivalent_identifiers":["OMIM:606960","UMLS:C1847015"]}
{"id":"OMIM:607174","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO","inheritance":"Typified by incomplete penetrance","equivalent_identifiers":["OMIM:607174","UMLS:C3551915"]}
{"id":"OMIM:607276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RESTING HEART RATE","equivalent_identifiers":["OMIM:607276","UMLS:C1821417","SNOMEDCT:444981005"]}
{"id":"OMIM:607447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4","equivalent_identifiers":["OMIM:607447","UMLS:C1843898"]}
{"id":"OMIM:607457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GIL BLOOD GROUP","equivalent_identifiers":["OMIM:607457","UMLS:C1843889"]}
{"id":"OMIM:607486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"607486","equivalent_identifiers":["OMIM:607486"]}
{"id":"OMIM:607514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10","equivalent_identifiers":["OMIM:607514","UMLS:C2675659"]}
{"id":"OMIM:608456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mutyh-associated polyposis","equivalent_identifiers":["OMIM:608456","EFO:0009296","UMLS:C3272841","MESH:C563924","MEDDRA:10090739","NCIT:C96520"],"information_content":92.8}
{"id":"OMIM:608622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypertension, Diastolic, Resistance to","equivalent_identifiers":["OMIM:608622","UMLS:C1837739","MESH:C563897"]}
{"id":"OMIM:608812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLORECTAL CANCER, SUSCEPTIBILITY TO, 1","equivalent_identifiers":["OMIM:608812","UMLS:C1837315"]}
{"id":"OMIM:609027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"609027","equivalent_identifiers":["OMIM:609027"]}
{"id":"OMIM:609048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3","equivalent_identifiers":["OMIM:609048","UMLS:C1836892"]}
{"id":"OMIM:609070","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HEMOGLOBIN, HIGH ALTITUDE ADAPTATION PHENOTYPE","equivalent_identifiers":["OMIM:609070","UMLS:C1836778"]}
{"id":"OMIM:609265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TUMOR PREDISPOSITION SYNDROME 4","equivalent_identifiers":["OMIM:609265","UMLS:C5882668"]}
{"id":"OMIM:609310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hereditary Non-Polyposis Colon Cancer Type 2","equivalent_identifiers":["OMIM:609310","UMLS:C1333991","MESH:D055847","NCIT:C6726"],"information_content":92.8}
{"id":"OMIM:609338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carotid Intimal Medial Thickness 1","equivalent_identifiers":["OMIM:609338","UMLS:C1836302","MESH:C563733"]}
{"id":"OMIM:609887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glaucoma 1, Open Angle, G","equivalent_identifiers":["OMIM:609887","UMLS:C1835933","MESH:C563692"]}
{"id":"OMIM:610069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Polyposis Syndrome, Hereditary Mixed, 2","equivalent_identifiers":["OMIM:610069","UMLS:C1864730","MESH:C566451"]}
{"id":"OMIM:610738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neutropenia, Severe Congenital, Autosomal Recessive 3","equivalent_identifiers":["OMIM:610738","UMLS:C5235141","MESH:C537592","NCIT:C166153","SNOMEDCT:770942003"],"information_content":100.0}
{"id":"OMIM:610762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6","equivalent_identifiers":["OMIM:610762","UMLS:C1853096","NCIT:C168987"],"information_content":100.0}
{"id":"OMIM:611276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Glaucoma 1, Open Angle, H","equivalent_identifiers":["OMIM:611276","UMLS:C1969811","MESH:C566976"]}
{"id":"OMIM:611664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin/Hair/Eye Pigmentation, Variation In, 7","equivalent_identifiers":["OMIM:611664","UMLS:C2674081","MESH:C567155"]}
{"id":"OMIM:611724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin-Hair-Eye Pigmentation, Variation In, 8","equivalent_identifiers":["OMIM:611724","UMLS:C2673265","MESH:C567096"]}
{"id":"OMIM:611742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin-Hair-Eye Pigmentation, Variation In, 9","equivalent_identifiers":["OMIM:611742","UMLS:C2673200","MESH:C567091"]}
{"id":"OMIM:611862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1","equivalent_identifiers":["OMIM:611862","UMLS:C2676078"]}
{"id":"OMIM:612042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1","equivalent_identifiers":["OMIM:612042","UMLS:C2677576"]}
{"id":"OMIM:612229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLORECTAL CANCER, SUSCEPTIBILITY TO, 3","equivalent_identifiers":["OMIM:612229","UMLS:C2677123"]}
{"id":"OMIM:612267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin-Hair-Eye Pigmentation, Variation In, 10","equivalent_identifiers":["OMIM:612267","UMLS:C2677088","MESH:C567376"]}
{"id":"OMIM:612271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Skin-Hair-Eye Pigmentation, Variation In, 11","equivalent_identifiers":["OMIM:612271","UMLS:C2677086","MESH:C567374"]}
{"id":"OMIM:612362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12","equivalent_identifiers":["OMIM:612362","UMLS:C2676498"]}
{"id":"OMIM:612460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:612460","UMLS:C2675914"]}
{"id":"OMIM:612469","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome","equivalent_identifiers":["OMIM:612469","UMLS:C2675904","MESH:C567292","NCIT:C122804"],"information_content":100.0}
{"id":"OMIM:612542","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1","equivalent_identifiers":["OMIM:612542","UMLS:C2674252"]}
{"id":"OMIM:612556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1","equivalent_identifiers":["OMIM:612556","UMLS:C2675517"]}
{"id":"OMIM:612560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12","equivalent_identifiers":["OMIM:612560","UMLS:C2675513"]}
{"id":"OMIM:612591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLORECTAL CANCER, SUSCEPTIBILITY TO, 10","equivalent_identifiers":["OMIM:612591","UMLS:C2675481"]}
{"id":"OMIM:612630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HAIR MORPHOLOGY 1","equivalent_identifiers":["OMIM:612630","UMLS:C2675460"]}
{"id":"OMIM:612671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["OMIM:612671","UMLS:C2675207"]}
{"id":"OMIM:612797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12","equivalent_identifiers":["OMIM:612797","UMLS:C2675071"]}
{"id":"OMIM:612874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Erythrocyte Amp Deaminase Deficiency","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:612874","UMLS:C2752073","MESH:C567878"]}
{"id":"OMIM:612975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SHORT SLEEP, FAMILIAL NATURAL, 1","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["OMIM:612975","UMLS:C5200932"]}
{"id":"OMIM:613014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NEUROBLASTOMA, SUSCEPTIBILITY TO, 3","equivalent_identifiers":["OMIM:613014","UMLS:C2751681"]}
{"id":"OMIM:613024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1","equivalent_identifiers":["OMIM:613024","UMLS:C2751665"]}
{"id":"OMIM:613028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GLIOMA SUSCEPTIBILITY 2","equivalent_identifiers":["OMIM:613028","UMLS:C2751642"]}
{"id":"OMIM:613029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GLIOMA SUSCEPTIBILITY 3","equivalent_identifiers":["OMIM:613029","UMLS:C2751641"]}
{"id":"OMIM:613032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GLIOMA SUSCEPTIBILITY 7","equivalent_identifiers":["OMIM:613032","UMLS:C2751638"]}
{"id":"OMIM:613098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC","equivalent_identifiers":["OMIM:613098","UMLS:C2751296"]}
{"id":"OMIM:613099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5","equivalent_identifiers":["OMIM:613099","UMLS:C2751295"]}
{"id":"OMIM:613244","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8","equivalent_identifiers":["OMIM:613244","UMLS:C2750471","MESH:C567685"]}
{"id":"OMIM:613325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rhabdoid Tumor Predisposition Syndrome 2","equivalent_identifiers":["OMIM:613325","UMLS:C2750074","MESH:C567643","NCIT:C178394"],"information_content":92.8}
{"id":"OMIM:613347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PANCREATIC CANCER, SUSCEPTIBILITY TO, 2","equivalent_identifiers":["OMIM:613347","UMLS:C3150546"]}
{"id":"OMIM:613348","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PANCREATIC CANCER, SUSCEPTIBILITY TO, 3","equivalent_identifiers":["OMIM:613348","UMLS:C3150547"]}
{"id":"OMIM:613418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15","equivalent_identifiers":["OMIM:613418","UMLS:C3150680"]}
{"id":"OMIM:613463","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5","equivalent_identifiers":["OMIM:613463","UMLS:C3150714"]}
{"id":"OMIM:613493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Antibody Deficiency due to Defect in CD19","equivalent_identifiers":["OMIM:613493","UMLS:C3150738","MESH:C566275"]}
{"id":"OMIM:613494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 4","equivalent_identifiers":["OMIM:613494","UMLS:C3150739"]}
{"id":"OMIM:613495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 5","equivalent_identifiers":["OMIM:613495","UMLS:C3150740"]}
{"id":"OMIM:613496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 6","equivalent_identifiers":["OMIM:613496","UMLS:C3150741"]}
{"id":"OMIM:613566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6","equivalent_identifiers":["OMIM:613566","UMLS:C3150805"]}
{"id":"OMIM:613589","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6","equivalent_identifiers":["OMIM:613589","UMLS:C3150834"]}
{"id":"OMIM:613793","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Blood group, cromer system","equivalent_identifiers":["OMIM:613793"]}
{"id":"OMIM:613972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6","equivalent_identifiers":["OMIM:613972","UMLS:C3151417"]}
{"id":"OMIM:613987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2","equivalent_identifiers":["OMIM:613987","UMLS:C3151441","NCIT:C176926"],"information_content":100.0}
{"id":"OMIM:613988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dyskeratosis Congenita, Autosomal Recessive 3","equivalent_identifiers":["OMIM:613988","UMLS:C3151442","NCIT:C176927"],"information_content":100.0}
{"id":"OMIM:613989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2","equivalent_identifiers":["OMIM:613989","UMLS:C3151443","UMLS:C3151444","NCIT:C176922"],"information_content":100.0}
{"id":"OMIM:613990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dyskeratosis Congenita, Autosomal Dominant 3","equivalent_identifiers":["OMIM:613990","UMLS:C3151445","NCIT:C176923"],"information_content":100.0}
{"id":"OMIM:614114","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mosaic Variegated Aneuploidy Syndrome 2","equivalent_identifiers":["OMIM:614114","UMLS:C3279843","NCIT:C168989"],"information_content":100.0}
{"id":"OMIM:614122","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chitotriosidase deficiency","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:614122","EFO:0022489","UMLS:C3279902"]}
{"id":"OMIM:614320","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PANCREATIC CANCER, SUSCEPTIBILITY TO, 4","equivalent_identifiers":["OMIM:614320","UMLS:C3280442"]}
{"id":"OMIM:614327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TUMOR PREDISPOSITION SYNDROME 1","equivalent_identifiers":["OMIM:614327","UMLS:C3280492"]}
{"id":"OMIM:614331","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6","equivalent_identifiers":["OMIM:614331","UMLS:C1860896","MESH:C566039"]}
{"id":"OMIM:614337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4","equivalent_identifiers":["OMIM:614337","UMLS:C1838333","MESH:C563971"]}
{"id":"OMIM:614350","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5","equivalent_identifiers":["OMIM:614350","UMLS:C1833477","MESH:C563456"]}
{"id":"OMIM:614374","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"614374","equivalent_identifiers":["OMIM:614374"]}
{"id":"OMIM:614385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Colorectal Cancer, Hereditary Nonpolyposis, Type 7","equivalent_identifiers":["OMIM:614385","UMLS:C1858380","MESH:C565777"]}
{"id":"OMIM:614401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO","equivalent_identifiers":["OMIM:614401","UMLS:C3280690"]}
{"id":"OMIM:614419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1","equivalent_identifiers":["OMIM:614419","UMLS:C3280741"]}
{"id":"OMIM:614490","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"614490","equivalent_identifiers":["OMIM:614490"]}
{"id":"OMIM:614564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL","equivalent_identifiers":["OMIM:614564","UMLS:C3281203"]}
{"id":"OMIM:614689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS","equivalent_identifiers":["OMIM:614689","UMLS:C3553493"]}
{"id":"OMIM:614699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 7","equivalent_identifiers":["OMIM:614699","UMLS:C3542922"]}
{"id":"OMIM:614700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY","equivalent_identifiers":["OMIM:614700","UMLS:C3553512","NCIT:C176809","SNOMEDCT:1197477000"],"information_content":100.0}
{"id":"OMIM:614740","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7","equivalent_identifiers":["OMIM:614740","UMLS:C3553606"]}
{"id":"OMIM:614745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"614745","equivalent_identifiers":["OMIM:614745"]}
{"id":"OMIM:614752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS","equivalent_identifiers":["OMIM:614752","UMLS:C3540094"]}
{"id":"OMIM:615018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sd(a) POLYAGGLUTINATION SYNDROME","equivalent_identifiers":["OMIM:615018","UMLS:C5562071","UMLS:C5562080"]}
{"id":"OMIM:615021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"615021","equivalent_identifiers":["OMIM:615021"]}
{"id":"OMIM:615082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"C3HEX, ABILITY TO SMELL","equivalent_identifiers":["OMIM:615082","UMLS:C3554456"]}
{"id":"OMIM:615083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COLORECTAL CANCER, SUSCEPTIBILITY TO, 12","equivalent_identifiers":["OMIM:615083","UMLS:C3554460"]}
{"id":"OMIM:615134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9","equivalent_identifiers":["OMIM:615134","UMLS:C3554574"]}
{"id":"OMIM:615190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5","equivalent_identifiers":["OMIM:615190","UMLS:C3554656","UMLS:C3808802","NCIT:C176928"],"information_content":100.0}
{"id":"OMIM:615221","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16","equivalent_identifiers":["OMIM:615221","UMLS:C3714945"]}
{"id":"OMIM:615264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"VEL-NULL PHENOTYPE","equivalent_identifiers":["OMIM:615264","UMLS:C3808966"]}
{"id":"OMIM:615311","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17","equivalent_identifiers":["OMIM:615311","UMLS:C3714987"]}
{"id":"OMIM:615457","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18","equivalent_identifiers":["OMIM:615457","UMLS:C3714940"]}
{"id":"OMIM:615577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 10","equivalent_identifiers":["OMIM:615577","UMLS:C3809991"]}
{"id":"OMIM:615602","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MEMORY QUANTITATIVE TRAIT LOCUS","equivalent_identifiers":["OMIM:615602","UMLS:C3810089"]}
{"id":"OMIM:615619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CHOLANGIOCARCINOMA, SUSCEPTIBILITY TO","equivalent_identifiers":["OMIM:615619","UMLS:C3810156"]}
{"id":"OMIM:615670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SCHWANNOMATOSIS 2","equivalent_identifiers":["OMIM:615670","UMLS:C3810283"]}
{"id":"OMIM:615749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ECULIZUMAB, POOR RESPONSE TO","equivalent_identifiers":["OMIM:615749","UMLS:C3810402"]}
{"id":"OMIM:615767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IL21-related infantile inflammatory bowel disease","equivalent_identifiers":["OMIM:615767","UMLS:C5567788","NCIT:C176801","SNOMEDCT:1173999006"],"information_content":100.0}
{"id":"OMIM:615789","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ROTHMUND-THOMSON SYNDROME, TYPE 3","equivalent_identifiers":["OMIM:615789","UMLS:C4014339"]}
{"id":"OMIM:615848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10","equivalent_identifiers":["OMIM:615848","UMLS:C4014476"]}
{"id":"OMIM:615881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS","equivalent_identifiers":["OMIM:615881","UMLS:C4014553"]}
{"id":"OMIM:615969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alpha-Fetoprotein Deficiency","inheritance":"Autosomal recessive inheritance","equivalent_identifiers":["OMIM:615969","UMLS:C1863081","MESH:C566300"]}
{"id":"OMIM:615970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF","equivalent_identifiers":["OMIM:615970","UMLS:C1863080","SNOMEDCT:716697002"]}
{"id":"OMIM:616060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"616060","equivalent_identifiers":["OMIM:616060"]}
{"id":"OMIM:616089","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"616089","equivalent_identifiers":["OMIM:616089"]}
{"id":"OMIM:616093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"616093","equivalent_identifiers":["OMIM:616093"]}
{"id":"OMIM:616200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Progeroid features, hepatocellular carcinoma predisposition syndrome","equivalent_identifiers":["OMIM:616200","UMLS:C4015461","SNOMEDCT:1216939003"]}
{"id":"OMIM:616216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"THROMBOCYTOPENIA 5","equivalent_identifiers":["OMIM:616216","UMLS:C4015537","NCIT:C203436"],"information_content":100.0}
{"id":"OMIM:616353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6","equivalent_identifiers":["OMIM:616353","UMLS:C4225356","NCIT:C176929"],"information_content":100.0}
{"id":"OMIM:616373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3","equivalent_identifiers":["OMIM:616373","UMLS:C4225346"]}
{"id":"OMIM:616415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FAMILIAL ADENOMATOUS POLYPOSIS 3","equivalent_identifiers":["OMIM:616415","UMLS:C4225157"]}
{"id":"OMIM:616553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7","equivalent_identifiers":["OMIM:616553","UMLS:C4225283","UMLS:C4225284","NCIT:C176924"],"information_content":100.0}
{"id":"OMIM:616576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY","equivalent_identifiers":["OMIM:616576","UMLS:C4225277"]}
{"id":"OMIM:616617","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HEIMLER SYNDROME 2","equivalent_identifiers":["OMIM:616617","UMLS:C4225267"]}
{"id":"OMIM:616814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15","equivalent_identifiers":["OMIM:616814","UMLS:C4225197"]}
{"id":"OMIM:616871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO","equivalent_identifiers":["OMIM:616871","UMLS:C4225174"]}
{"id":"OMIM:616873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 13","equivalent_identifiers":["OMIM:616873","UMLS:C4225173"]}
{"id":"OMIM:616903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NUDT15 deficiency","inheritance":"Autosomal dominant inheritance","equivalent_identifiers":["OMIM:616903","UMLS:C4225160","SNOMEDCT:781386002"]}
{"id":"OMIM:617075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3","equivalent_identifiers":["OMIM:617075","UMLS:C4310729"]}
{"id":"OMIM:617100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FAMILIAL ADENOMATOUS POLYPOSIS 4","equivalent_identifiers":["OMIM:617100","UMLS:C4310719"]}
{"id":"OMIM:617108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SESSILE SERRATED POLYPOSIS CANCER SYNDROME","equivalent_identifiers":["OMIM:617108","UMLS:C4310714"]}
{"id":"OMIM:617234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16","equivalent_identifiers":["OMIM:617234","UMLS:C4310659"]}
{"id":"OMIM:617343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HYPERPARATHYROIDISM 4","equivalent_identifiers":["OMIM:617343","UMLS:C4479229"]}
{"id":"OMIM:617598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3","equivalent_identifiers":["OMIM:617598","UMLS:C4539839"]}
{"id":"OMIM:617749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ACTN3 deficiency","equivalent_identifiers":["OMIM:617749","EFO:0022192","UMLS:C3888203","UMLS:C3888204"]}
{"id":"OMIM:617765","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 14","equivalent_identifiers":["OMIM:617765","UMLS:C4540380"]}
{"id":"OMIM:617956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BETA-GLUCOPYRANOSIDE TASTING","equivalent_identifiers":["OMIM:617956","UMLS:C4693750"]}
{"id":"OMIM:617970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RH-NULL, AMORPH TYPE","equivalent_identifiers":["OMIM:617970","UMLS:C4693796"]}
{"id":"OMIM:617995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMPDH2 ENZYME ACTIVITY, VARIATION IN","equivalent_identifiers":["OMIM:617995","UMLS:C3888196"]}
{"id":"OMIM:618018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DRUG METABOLISM, ALTERED, CYP2C8-RELATED","equivalent_identifiers":["OMIM:618018","UMLS:C4693948"]}
{"id":"OMIM:618057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Monocyte Esterase Deficiency","equivalent_identifiers":["OMIM:618057","UMLS:C1861889","UMLS:C4748035","UMLS:C4749152","MESH:C566173"]}
{"id":"OMIM:618079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8","equivalent_identifiers":["OMIM:618079","UMLS:C4748092"]}
{"id":"OMIM:618377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1","equivalent_identifiers":["OMIM:618377","UMLS:C4760611"]}
{"id":"OMIM:618591","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SHORT SLEEP, FAMILIAL NATURAL, 2","equivalent_identifiers":["OMIM:618591","UMLS:C5231420"]}
{"id":"OMIM:618680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PANCREATIC CANCER, SUSCEPTIBILITY TO, 5","equivalent_identifiers":["OMIM:618680","UMLS:C5231459"]}
{"id":"OMIM:618807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lp(A) Deficiency, Congenital","equivalent_identifiers":["OMIM:618807","UMLS:C1835362","UMLS:C5394134","UMLS:C5394595","MESH:C563618","NCIT:C202076"],"information_content":100.0}
{"id":"OMIM:618983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LEWIS-NEGATIVE PHENOTYPE","equivalent_identifiers":["OMIM:618983","UMLS:C5436967"]}
{"id":"OMIM:619030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS","equivalent_identifiers":["OMIM:619030","UMLS:C5436642"]}
{"id":"OMIM:619545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HYPOPLASTIC FEMURS AND PELVIS","equivalent_identifiers":["OMIM:619545","UMLS:C5561993"]}
{"id":"OMIM:619812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"EMM-NULL PHENOTYPE","equivalent_identifiers":["OMIM:619812","UMLS:C5677026"]}
{"id":"OMIM:619975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TUMOR PREDISPOSITION SYNDROME 2","equivalent_identifiers":["OMIM:619975","UMLS:C5774186"]}
{"id":"OMIM:620040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYSKERATOSIS CONGENITA, DIGENIC","equivalent_identifiers":["OMIM:620040","UMLS:C5774217"]}
{"id":"OMIM:620116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FATTY LIVER DISEASE, PROTECTION FROM","equivalent_identifiers":["OMIM:620116","UMLS:C5774254"]}
{"id":"OMIM:620133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8","equivalent_identifiers":["OMIM:620133","UMLS:C5774257"]}
{"id":"OMIM:620153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4","equivalent_identifiers":["OMIM:620153","UMLS:C5774267"]}
{"id":"OMIM:620184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ATELIS SYNDROME 1","equivalent_identifiers":["OMIM:620184","UMLS:C5774281"]}
{"id":"OMIM:620185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ATELIS SYNDROME 2","equivalent_identifiers":["OMIM:620185","UMLS:C5774282"]}
{"id":"OMIM:620189","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION","equivalent_identifiers":["OMIM:620189","UMLS:C5774284"]}
{"id":"OMIM:620207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"620207","equivalent_identifiers":["OMIM:620207"]}
{"id":"OMIM:620343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BASAL CELL NEVUS SYNDROME 2","equivalent_identifiers":["OMIM:620343","UMLS:C5830451"]}
{"id":"OMIM:620410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3","equivalent_identifiers":["OMIM:620410","UMLS:C3888197"]}
{"id":"OMIM:620461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12","equivalent_identifiers":["OMIM:620461","UMLS:C5882673"]}
{"id":"OMIM:620670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IMMUNODEFICIENCY, COMMON VARIABLE, 15","equivalent_identifiers":["OMIM:620670","UMLS:C5882741"]}
{"id":"OMIM:620819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ROTHMUND-THOMSON SYNDROME, TYPE 4","equivalent_identifiers":["OMIM:620819","UMLS:C5935619"]}
{"id":"OMIM:621185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Houge-Janssens syndrome 4","equivalent_identifiers":["OMIM:621185"]}
{"id":"OMIM:621196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Maturity-onset diabetes of the young, type 12","equivalent_identifiers":["OMIM:621196"]}
{"id":"OMIM:621212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Li-Takada-Miyake syndrome","equivalent_identifiers":["OMIM:621212"]}
{"id":"OMIM:621224","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ectodermal dysplasia 17 with or without limb malformations","equivalent_identifiers":["OMIM:621224"]}
{"id":"OMIM:621225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital myopathy 26","equivalent_identifiers":["OMIM:621225"]}
{"id":"OMIM:621226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spastic ataxia 11, autosomal dominant","equivalent_identifiers":["OMIM:621226"]}
{"id":"OMIM:621231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oocyte/zygote/embryo maturation arrest 23","equivalent_identifiers":["OMIM:621231"]}
{"id":"OMIM:621232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oocyte/zygote/embryo maturation arrest 24","equivalent_identifiers":["OMIM:621232"]}
{"id":"OMIM:621235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Autoimmune disease, multisystem, infantile-onset, 5","equivalent_identifiers":["OMIM:621235"]}
{"id":"OMIM:621250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Developmental and epileptic encephalopathy 118","equivalent_identifiers":["OMIM:621250"]}
{"id":"OMIM:621251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cardiomyopathy, dilated, 1QQ","equivalent_identifiers":["OMIM:621251"]}
{"id":"OMIM:621252","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAOP syndrome","equivalent_identifiers":["OMIM:621252"]}
{"id":"OMIM:621254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy","equivalent_identifiers":["OMIM:621254"]}
{"id":"OMIM:621258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi anemia, complementation group X","equivalent_identifiers":["OMIM:621258"]}
{"id":"OMIM:621260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Short-rib thoracic dysplasia 22 without polydactyly","equivalent_identifiers":["OMIM:621260"]}
{"id":"OMIM:621262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Diamond-Blackfan anemia 22","equivalent_identifiers":["OMIM:621262"]}
{"id":"OMIM:621268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Exudative vitreoretinopathy 8","equivalent_identifiers":["OMIM:621268"]}
{"id":"OMIM:621269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spermatogenic failure 101","equivalent_identifiers":["OMIM:621269"]}
{"id":"OMIM:621270","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cardiomyopathy, familial hypertrophic, 31","equivalent_identifiers":["OMIM:621270"]}
{"id":"OMIM:621280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Retinitis pigmentosa 100","equivalent_identifiers":["OMIM:621280"]}
{"id":"OMIM:621285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Intellectual developmental disorder, autosomal dominant 76","equivalent_identifiers":["OMIM:621285"]}
{"id":"UMLS:C0015927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fetal Death","equivalent_identifiers":["UMLS:C0015927","UMLS:C0595939","MESH:D005313","MESH:D050497","MEDDRA:10011908","MEDDRA:10011909","MEDDRA:10011911","MEDDRA:10016479","MEDDRA:10016484","MEDDRA:10022747","MEDDRA:10042062","MEDDRA:10042063","MEDDRA:10055690","MEDDRA:10055691","MEDDRA:10076683","MEDDRA:10076696","NCIT:C49151","NCIT:C50620","SNOMEDCT:237364002","SNOMEDCT:276507005","HP:0003826"],"information_content":89.4}
{"id":"UMLS:C0521169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Compression fracture","equivalent_identifiers":["UMLS:C0521169","MESH:D050815","MEDDRA:10010214","NCIT:C27170","SNOMEDCT:21947006","SNOMEDCT:443395009","HP:4000047"],"information_content":95.4}
{"id":"UMLS:C0565599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Maternal hypertension","equivalent_identifiers":["UMLS:C0565599","SNOMEDCT:288250001","HP:0008071"],"information_content":95.4}
{"id":"UMLS:C1855496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Contiguous gene syndrome","equivalent_identifiers":["UMLS:C1855496","HP:0001466"],"information_content":100.0}
{"id":"UMLS:C3203523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Seizure cluster","equivalent_identifiers":["UMLS:C3203523","MEDDRA:10071350","SNOMEDCT:460681000124100","SNOMEDCT:460731000124105","HP:0033349"],"information_content":100.0}
{"id":"UMLS:C3279439","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Recurrent spontaneous abortion","equivalent_identifiers":["UMLS:C3279439","HP:0200067"],"information_content":88.2}
{"id":"UMLS:C3544104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pregnancy exposure","equivalent_identifiers":["UMLS:C3544104","MEDDRA:10073513","HP:0031437"],"information_content":95.4}
{"id":"UMLS:C4023358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Maternal autoimmune disease","equivalent_identifiers":["UMLS:C4023358","HP:0011437"],"information_content":95.4}
{"id":"UMLS:C4552766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Miscarriage","equivalent_identifiers":["UMLS:C4552766","MEDDRA:10027649","MEDDRA:10027650","SNOMEDCT:17369002","HP:0005268"],"information_content":100.0}
{"id":"orphanet:1052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mosaic variegated aneuploidy syndrome","equivalent_identifiers":["orphanet:1052"]}
{"id":"orphanet:1055","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital left ventricular aneurysm","equivalent_identifiers":["orphanet:1055"]}
{"id":"orphanet:1059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Blue rubber bleb nevus","equivalent_identifiers":["orphanet:1059"]}
{"id":"orphanet:109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bannayan-Riley-Ruvalcaba syndrome","equivalent_identifiers":["orphanet:109"]}
{"id":"orphanet:116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Beckwith-Wiedemann syndrome","equivalent_identifiers":["orphanet:116"]}
{"id":"orphanet:137634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Overgrowth-macrocephaly-facial dysmorphism syndrome","equivalent_identifiers":["orphanet:137634"]}
{"id":"orphanet:137698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk","equivalent_identifiers":["orphanet:137698"]}
{"id":"orphanet:141074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"141074","equivalent_identifiers":["orphanet:141074"]}
{"id":"orphanet:144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lynch syndrome","equivalent_identifiers":["orphanet:144"]}
{"id":"orphanet:145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hereditary breast and/or ovarian cancer syndrome","equivalent_identifiers":["orphanet:145"]}
{"id":"orphanet:157794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hereditary mixed polyposis syndrome","equivalent_identifiers":["orphanet:157794"]}
{"id":"orphanet:157798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Serrated polyposis syndrome","equivalent_identifiers":["orphanet:157798"]}
{"id":"orphanet:158048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hemophagocytic syndrome associated with an infection","equivalent_identifiers":["orphanet:158048"]}
{"id":"orphanet:163634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Maffucci syndrome","equivalent_identifiers":["orphanet:163634"]}
{"id":"orphanet:163717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"163717","equivalent_identifiers":["orphanet:163717"]}
{"id":"orphanet:168612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"168612","equivalent_identifiers":["orphanet:168612"]}
{"id":"orphanet:168615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"168615","equivalent_identifiers":["orphanet:168615"]}
{"id":"orphanet:168629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"168629","equivalent_identifiers":["orphanet:168629"]}
{"id":"orphanet:1775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dyskeratosis congenita","equivalent_identifiers":["orphanet:1775"]}
{"id":"orphanet:184","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cherubism","equivalent_identifiers":["orphanet:184"]}
{"id":"orphanet:2038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pulmonary arteriovenous malformation","equivalent_identifiers":["orphanet:2038"]}
{"id":"orphanet:208999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Paraneoplastic sensory ganglionopathy","equivalent_identifiers":["orphanet:208999"]}
{"id":"orphanet:211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial cylindromatosis","equivalent_identifiers":["orphanet:211"]}
{"id":"orphanet:2197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Idiopathic hypercalciuria","equivalent_identifiers":["orphanet:2197"]}
{"id":"orphanet:220386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Semilobar holoprosencephaly","equivalent_identifiers":["orphanet:220386"]}
{"id":"orphanet:220460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Attenuated familial adenomatous polyposis","equivalent_identifiers":["orphanet:220460"]}
{"id":"orphanet:221008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rothmund-Thomson syndrome type 1","equivalent_identifiers":["orphanet:221008"]}
{"id":"orphanet:221016","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rothmund-Thomson syndrome type 2","equivalent_identifiers":["orphanet:221016"]}
{"id":"orphanet:226316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Genetic transient congenital hypothyroidism","equivalent_identifiers":["orphanet:226316"]}
{"id":"orphanet:228429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"228429","equivalent_identifiers":["orphanet:228429"]}
{"id":"orphanet:231080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"High-grade dysplasia in patients with Barrett esophagus","equivalent_identifiers":["orphanet:231080"]}
{"id":"orphanet:231108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"231108","equivalent_identifiers":["orphanet:231108"]}
{"id":"orphanet:231117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"231117","equivalent_identifiers":["orphanet:231117"]}
{"id":"orphanet:231120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"231120","equivalent_identifiers":["orphanet:231120"]}
{"id":"orphanet:231127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"231127","equivalent_identifiers":["orphanet:231127"]}
{"id":"orphanet:238505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"238505","equivalent_identifiers":["orphanet:238505"]}
{"id":"orphanet:238613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"238613","equivalent_identifiers":["orphanet:238613"]}
{"id":"orphanet:244275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"244275","equivalent_identifiers":["orphanet:244275"]}
{"id":"orphanet:244305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"244305","equivalent_identifiers":["orphanet:244305"]}
{"id":"orphanet:247198","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247198","equivalent_identifiers":["orphanet:247198"]}
{"id":"orphanet:247511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247511","equivalent_identifiers":["orphanet:247511"]}
{"id":"orphanet:247522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247522","equivalent_identifiers":["orphanet:247522"]}
{"id":"orphanet:247638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247638","equivalent_identifiers":["orphanet:247638"]}
{"id":"orphanet:247651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247651","equivalent_identifiers":["orphanet:247651"]}
{"id":"orphanet:247667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247667","equivalent_identifiers":["orphanet:247667"]}
{"id":"orphanet:247676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247676","equivalent_identifiers":["orphanet:247676"]}
{"id":"orphanet:247698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247698","equivalent_identifiers":["orphanet:247698"]}
{"id":"orphanet:247709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"247709","equivalent_identifiers":["orphanet:247709"]}
{"id":"orphanet:247798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MUTYH-related polyposis","equivalent_identifiers":["orphanet:247798"]}
{"id":"orphanet:250984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Autosomal recessive Stickler syndrome","equivalent_identifiers":["orphanet:250984"]}
{"id":"orphanet:252206","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"252206","equivalent_identifiers":["orphanet:252206"]}
{"id":"orphanet:254704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Genetic hyperferritinemia without iron overload","equivalent_identifiers":["orphanet:254704"]}
{"id":"orphanet:2608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"N syndrome","equivalent_identifiers":["orphanet:2608"]}
{"id":"orphanet:261584","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"5q22 microdeletion syndrome","equivalent_identifiers":["orphanet:261584"]}
{"id":"orphanet:2680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypomyelination neuropathy-arthrogryposis syndrome","equivalent_identifiers":["orphanet:2680"]}
{"id":"orphanet:275798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"275798","equivalent_identifiers":["orphanet:275798"]}
{"id":"orphanet:276152","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Multiple endocrine neoplasia type 4","equivalent_identifiers":["orphanet:276152"]}
{"id":"orphanet:276234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"276234","equivalent_identifiers":["orphanet:276234"]}
{"id":"orphanet:276399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial multinodular goiter","equivalent_identifiers":["orphanet:276399"]}
{"id":"orphanet:280195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Septopreoptic holoprosencephaly","equivalent_identifiers":["orphanet:280195"]}
{"id":"orphanet:280654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"280654","equivalent_identifiers":["orphanet:280654"]}
{"id":"orphanet:280763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Severe intellectual disability and progressive spastic paraplegia","equivalent_identifiers":["orphanet:280763"]}
{"id":"orphanet:284973","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"284973","equivalent_identifiers":["orphanet:284973"]}
{"id":"orphanet:2869","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Peutz-Jeghers syndrome","equivalent_identifiers":["orphanet:2869"]}
{"id":"orphanet:289539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"289539","equivalent_identifiers":["orphanet:289539"]}
{"id":"orphanet:2909","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rothmund-Thomson syndrome","equivalent_identifiers":["orphanet:2909"]}
{"id":"orphanet:2929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Juvenile polyposis syndrome","equivalent_identifiers":["orphanet:2929"]}
{"id":"orphanet:2930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cronkhite-Canada syndrome","equivalent_identifiers":["orphanet:2930"]}
{"id":"orphanet:293822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"293822","equivalent_identifiers":["orphanet:293822"]}
{"id":"orphanet:293978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Deficiency in anterior pituitary function-variable immunodeficiency syndrome","equivalent_identifiers":["orphanet:293978"]}
{"id":"orphanet:2969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Proteus-like syndrome","equivalent_identifiers":["orphanet:2969"]}
{"id":"orphanet:300373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked acrogigantism","equivalent_identifiers":["orphanet:300373"]}
{"id":"orphanet:306577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"306577","equivalent_identifiers":["orphanet:306577"]}
{"id":"orphanet:3088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Revesz syndrome","equivalent_identifiers":["orphanet:3088"]}
{"id":"orphanet:313846","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"313846","equivalent_identifiers":["orphanet:313846"]}
{"id":"orphanet:317473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"317473","equivalent_identifiers":["orphanet:317473"]}
{"id":"orphanet:321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Multiple osteochondromas","equivalent_identifiers":["orphanet:321"]}
{"id":"orphanet:3220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Deafness-enamel hypoplasia-nail defects syndrome","equivalent_identifiers":["orphanet:3220"]}
{"id":"orphanet:329971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Generalized juvenile polyposis/juvenile polyposis coli","equivalent_identifiers":["orphanet:329971"]}
{"id":"orphanet:33069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dravet syndrome","equivalent_identifiers":["orphanet:33069"]}
{"id":"orphanet:3322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hoyeraal-Hreidarsson syndrome","equivalent_identifiers":["orphanet:3322"]}
{"id":"orphanet:35093","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Non-syndromic sagittal craniosynostosis","equivalent_identifiers":["orphanet:35093"]}
{"id":"orphanet:35099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Non-syndromic bicoronal craniosynostosis","equivalent_identifiers":["orphanet:35099"]}
{"id":"orphanet:353327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital myasthenic syndromes with glycosylation defect","equivalent_identifiers":["orphanet:353327"]}
{"id":"orphanet:357027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"357027","equivalent_identifiers":["orphanet:357027"]}
{"id":"orphanet:363700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","equivalent_identifiers":["orphanet:363700"]}
{"id":"orphanet:364028","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked intellectual disability due to GRIA3 mutations","equivalent_identifiers":["orphanet:364028"]}
{"id":"orphanet:370959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital muscular dystrophy with cerebellar involvement","equivalent_identifiers":["orphanet:370959"]}
{"id":"orphanet:377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gorlin syndrome","equivalent_identifiers":["orphanet:377"]}
{"id":"orphanet:397590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Silver-Russell syndrome due to a point mutation","equivalent_identifiers":["orphanet:397590"]}
{"id":"orphanet:397692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"397692","equivalent_identifiers":["orphanet:397692"]}
{"id":"orphanet:397755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"397755","equivalent_identifiers":["orphanet:397755"]}
{"id":"orphanet:399805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Male infertility with azoospermia or oligozoospermia due to single gene mutation","equivalent_identifiers":["orphanet:399805"]}
{"id":"orphanet:400025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"400025","equivalent_identifiers":["orphanet:400025"]}
{"id":"orphanet:401911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AXIN2-related polyposis","equivalent_identifiers":["orphanet:401911"]}
{"id":"orphanet:404560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"404560","equivalent_identifiers":["orphanet:404560"]}
{"id":"orphanet:422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Idiopathic/heritable pulmonary arterial hypertension","equivalent_identifiers":["orphanet:422"]}
{"id":"orphanet:425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Apolipoprotein A-I deficiency","equivalent_identifiers":["orphanet:425"]}
{"id":"orphanet:435953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"435953","equivalent_identifiers":["orphanet:435953"]}
{"id":"orphanet:436151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"436151","equivalent_identifiers":["orphanet:436151"]}
{"id":"orphanet:436182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Microcephalic primordial dwarfism-insulin resistance syndrome","equivalent_identifiers":["orphanet:436182"]}
{"id":"orphanet:44","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neonatal adrenoleukodystrophy","equivalent_identifiers":["orphanet:44"]}
{"id":"orphanet:440437","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial colorectal cancer Type X","equivalent_identifiers":["orphanet:440437"]}
{"id":"orphanet:445018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"445018","equivalent_identifiers":["orphanet:445018"]}
{"id":"orphanet:447788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cerebral visual impairment","equivalent_identifiers":["orphanet:447788"]}
{"id":"orphanet:447877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Polymerase proofreading-related polyposis","equivalent_identifiers":["orphanet:447877"]}
{"id":"orphanet:454840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NTHL1-related polyposis","equivalent_identifiers":["orphanet:454840"]}
{"id":"orphanet:465508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Symptomatic form of HFE-related hemochromatosis","equivalent_identifiers":["orphanet:465508"]}
{"id":"orphanet:466729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"466729","equivalent_identifiers":["orphanet:466729"]}
{"id":"orphanet:477661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"477661","equivalent_identifiers":["orphanet:477661"]}
{"id":"orphanet:480536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MSH3-related polyposis","equivalent_identifiers":["orphanet:480536"]}
{"id":"orphanet:488647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"488647","equivalent_identifiers":["orphanet:488647"]}
{"id":"orphanet:498494","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"498494","equivalent_identifiers":["orphanet:498494"]}
{"id":"orphanet:505395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ventilator-induced diaphragmatic dysfunction","equivalent_identifiers":["orphanet:505395"]}
{"id":"orphanet:508410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial intestinal malrotation","equivalent_identifiers":["orphanet:508410"]}
{"id":"orphanet:523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hereditary leiomyomatosis and renal cell cancer","equivalent_identifiers":["orphanet:523"]}
{"id":"orphanet:524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Li-Fraumeni syndrome","equivalent_identifiers":["orphanet:524"]}
{"id":"orphanet:536545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kyphoscoliotic Ehlers-Danlos syndrome","equivalent_identifiers":["orphanet:536545"]}
{"id":"orphanet:53721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Spinal arteriovenous metameric syndrome","equivalent_identifiers":["orphanet:53721"]}
{"id":"orphanet:542323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAR T cell therapy-associated cytokine release syndrome","equivalent_identifiers":["orphanet:542323"]}
{"id":"orphanet:555874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Congenital tricuspid valve dysplasia","equivalent_identifiers":["orphanet:555874"]}
{"id":"orphanet:564178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Primary hypomagnesemia-refractory seizures-intellectual disability syndrome","equivalent_identifiers":["orphanet:564178"]}
{"id":"orphanet:566243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta","equivalent_identifiers":["orphanet:566243"]}
{"id":"orphanet:576227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"576227","equivalent_identifiers":["orphanet:576227"]}
{"id":"orphanet:576232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"576232","equivalent_identifiers":["orphanet:576232"]}
{"id":"orphanet:576235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"576235","equivalent_identifiers":["orphanet:576235"]}
{"id":"orphanet:580933","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"580933","equivalent_identifiers":["orphanet:580933"]}
{"id":"orphanet:599376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"599376","equivalent_identifiers":["orphanet:599376"]}
{"id":"orphanet:636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neurofibromatosis type 1","equivalent_identifiers":["orphanet:636"]}
{"id":"orphanet:637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Full NF2-related schwannomatosis","equivalent_identifiers":["orphanet:637"]}
{"id":"orphanet:638","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Neurofibromatosis-Noonan syndrome","equivalent_identifiers":["orphanet:638"]}
{"id":"orphanet:652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Multiple endocrine neoplasia type 1","equivalent_identifiers":["orphanet:652"]}
{"id":"orphanet:653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Multiple endocrine neoplasia type 2","equivalent_identifiers":["orphanet:653"]}
{"id":"orphanet:65748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"65748","equivalent_identifiers":["orphanet:65748"]}
{"id":"orphanet:71290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"71290","equivalent_identifiers":["orphanet:71290"]}
{"id":"orphanet:733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial adenomatous polyposis","equivalent_identifiers":["orphanet:733"]}
{"id":"orphanet:75249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial isolated restrictive cardiomyopathy","equivalent_identifiers":["orphanet:75249"]}
{"id":"orphanet:772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Infantile Refsum disease","equivalent_identifiers":["orphanet:772"]}
{"id":"orphanet:77258","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Trichorhinophalangeal syndrome type 1","equivalent_identifiers":["orphanet:77258"]}
{"id":"orphanet:79076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Juvenile polyposis of infancy","equivalent_identifiers":["orphanet:79076"]}
{"id":"orphanet:79493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brooke-Spiegler syndrome","equivalent_identifiers":["orphanet:79493"]}
{"id":"orphanet:805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tuberous sclerosis complex","equivalent_identifiers":["orphanet:805"]}
{"id":"orphanet:867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial multiple trichoepithelioma","equivalent_identifiers":["orphanet:867"]}
{"id":"orphanet:88637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome","equivalent_identifiers":["orphanet:88637"]}
{"id":"orphanet:893","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"WAGR syndrome","equivalent_identifiers":["orphanet:893"]}
{"id":"orphanet:90051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sepsis in premature infants","equivalent_identifiers":["orphanet:90051"]}
{"id":"orphanet:90064","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Acute peripheral arterial occlusion","equivalent_identifiers":["orphanet:90064"]}
{"id":"orphanet:906","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wiskott-Aldrich syndrome","equivalent_identifiers":["orphanet:906"]}
{"id":"orphanet:90796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"46,XY difference of sex development due to isolated 17,20-lyase deficiency","equivalent_identifiers":["orphanet:90796"]}
{"id":"orphanet:93921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Full schwannomatosis","equivalent_identifiers":["orphanet:93921"]}
{"id":"orphanet:93926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Midline interhemispheric variant of holoprosencephaly","equivalent_identifiers":["orphanet:93926"]}
{"id":"orphanet:94059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Uremic pruritus","equivalent_identifiers":["orphanet:94059"]}
{"id":"orphanet:97286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Carney-Stratakis syndrome","equivalent_identifiers":["orphanet:97286"]}
{"id":"orphanet:97685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"17q11 microdeletion syndrome","equivalent_identifiers":["orphanet:97685"]}
{"id":"orphanet:98619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"98619","equivalent_identifiers":["orphanet:98619"]}
{"id":"orphanet:98676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"98676","equivalent_identifiers":["orphanet:98676"]}
{"id":"orphanet:98827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Unclassified myelodysplastic syndrome","equivalent_identifiers":["orphanet:98827"]}
{"id":"orphanet:98855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Autosomal recessive Emery-Dreifuss muscular dystrophy","equivalent_identifiers":["orphanet:98855"]}
{"id":"orphanet:98914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Presynaptic congenital myasthenic syndromes","equivalent_identifiers":["orphanet:98914"]}
{"id":"orphanet:98915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Synaptic congenital myasthenic syndromes","equivalent_identifiers":["orphanet:98915"]}
{"id":"orphanet:98990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"98990","equivalent_identifiers":["orphanet:98990"]}
{"id":"orphanet:99361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"99361","equivalent_identifiers":["orphanet:99361"]}
{"id":"orphanet:99749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"99749","equivalent_identifiers":["orphanet:99749"]}
{"id":"orphanet:99853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"99853","equivalent_identifiers":["orphanet:99853"]}
{"id":"orphanet:99879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Familial isolated hyperparathyroidism","equivalent_identifiers":["orphanet:99879"]}
{"id":"orphanet:99880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hyperparathyroidism-jaw tumor syndrome","equivalent_identifiers":["orphanet:99880"]}